Foundation Newsline and Recent Website Updates
Sarah Elisabeth Glassman
January 30, 2007 - August 30, 2010
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Sarah Elisabeth Glassman (NPA/B) |
With great sadness we pass along word of the death of Sarah Elisabeth Glassman, age 3 years, from the effects of Niemann-Pick Disease Type A/B (ASMD).
Sarah is survived by her parents, Aaron and Valerie Glassman of Norfolk, Virginia; her brother, Zachary; grandparents Dr. Myron and Nanci Glassman and Brenda Bowling; and many aunts, uncles, cousins, friends and admirers.
"Loved by all who knew her, delicate and tiny Sarah was an amazing inspiration. It was an honor to be with this little angel. She taught everyone the true value of each day on earth and gave us all so many happy memories."
In lieu of flowers, memorials can be made to the Edmarc Hospice for Children (www.edmarc.org) or the National Niemann-Pick Disease Foundation.
[Aug 31, 2010 mem]
Every Life is a Promise...
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| Ty Quandt (NPC) |
The NNPDF recently sent out a letter featuring the Quandt family, specifically, Ty Quandt's battle with Niemann-Pick Disease Type C. This letter is one of two annual appeals for support from our friends and families to help us continue the Quest for a Cure for Niemann-Pick Disease, and to help provide family support services through the foundation.
Please click here to read the letter from Ty's mom and Chair of the NNPDF Board of Directors, Karen Quandt.
[Aug 30, 2010 mem]
Coping with Change: Strategies for Responsive Behaviors
Presentation on Dementia
At the recent NNPDF Family Support and Medical Conference, Lisa Loiselle, MA, and Leah Sadler, MHS, gave a presentation for families coping with issues of dementia. As Niemann-Pick Disease progresses, neurological changes may result in "responsive behaviors," also known as challenging or disruptive behaviors. These may include verbal or physical behaviors, either non-aggressive or aggressive in nature.
Loiselle, Associate Director of Research, and Sadler, Associate Director of Education, both at the Murray Alzheimer's Research and Education Program (MAREP) at the University of Waterloo, Ontario, spoke to families about strategies for dealing with these behaviors.
Their presentation included a PowerPoint presentation which they have graciously given permission to post to our Web site. Please click here to view the PowerPoint.
[Aug 27, 2010 mem]
Aaditya Michael Dasgupta
February 15, 2001- August 12, 2010
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Aaditya Dasgupta (NPC) |
We sadly inform you of the death of Aaditya Michael Dasgupta due to Niemann-Pick Disease Type C (NPC), on August 12. Nine-year-old Aaditya is the son of Aaditya Ravi Dasgupta and Tasneem Tankiwala of India, and the nephew of NNPDF member Duriya Lakdawala of Michigan.
A funeral mass was held on Saturday, August 14.
Our deepest sympathy to Aaditya's family and many friends.
[Aug 23, 2010 mem]
Christopher Lee Fox
November 27, 1987 - September 29, 2009
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Christopher Lee Fox (NPB) |
On Friday, September 25, 2009, surrounded by the love of his family, Christopher Lee Fox, age 21, entered into rest and is finally at peace after a long and courageous battle with Niemann-Pick Disease Type B (ASMD).
Chris was born on November 27, 1987, and was a 2009 graduate of Networks School. He was a fan of professional wrestling, particularly "Triple H," and he enjoyed the Wolverine character from the X-Men series. Chris also maintained a varied collection of nutcracker figurines from all over the world. A friendly and outgoing person, Chris loved life and had a smile for everyone he met. He will be sadly missed by the many people who both loved and admired him.
He is survived by his parents, Terry and Mike Fox; brother, Michael Fox and his wife, Alecia; sister, Ashley Fox; maternal grandparents, Sue and Gordon Saltar; paternal grandparents, Peggy and Jack Fox; and many aunts, uncles, cousins, and friends.
All our sympathy goes out to the Fox family in their loss.
[Aug 19, 2010 mem]
2010 Family Conference is a "Wrap!"
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| Kids had a great time in the Childcare/Activity Room at the 2010 NNPDF Family Support and Medical Conference. Thanks to the many volunteers who all played an important part! | Monica Taillefer (NPC), daughter of Simon Taillefer and Heather Patenaude-Taillefer, celebrated her 1st birthday at the conference with a "Princess Party." |
The 18th Annual NNPDF Family Support and Medical Conference was held August 5 - 8, at the beautiful Delta Chelsea Hotel in downtown Toronto. With the largest attendance at any Family Conference to date, the conference was a great success! Families in attendance benefited from an array of sessions with physicians, researchers, support professionals, and other families affected by NPD.
Attendees enjoyed the many amenities of the very diverse city of Toronto, and Friday evening were treated to a Toronto Blue Jays baseball game, and on Saturday evening, to a family celebration banquet and dance, complete with a magician to entertain the kiddies.
Many attendees are posting photos from the conference to Facebook, and you can see over 300 photos shot by conference volunteer Nancy Kreuger at Snapfish. (A free membership is required to view Snapfish albums.)
Keep an eye on this Web site for links to more fun conference photos in the near future!.
[Aug 13, 2010 mem]
NIH Takes on New Role in Fight Against Rare Diseases
The Wall Street Journal recently published an article about the National Institutes of Health's Therapeutics for Rare and Neglected Diseases (TRND) program. According to the article, TRND pilot projects will take the NIH in a new direction -- that of developing drugs.
Due to the small potential market for drugs for rare and neglected diseases, pharmaceutical companies are often reluctant to put forth resources to developing drugs for those conditions. The NIH TRND program will work to overcome the obstacles that lie between patients and promising new treatments.
Click here to read the article by Amy Dockser Marcus.
[Aug 13, 2010 mem]
Notre Dame Dean Rides to Raise Funds and Awareness
for Partnership with Ara Parseghian Medical Research Foundation
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UND Dean Greg Crawford and wife, Renate |
Greg Crawford, Dean of the College of Science at the University of Notre Dame (UND), and his wife, Renate, are riding bicycles from Arizona to Indiana in celebration of the new partnership between UND and the Ara Parseghian Medical Research Foundation (APMRF). The 2200 mile ride began in Tucson, home of the APMRF, on July 24, and is expected to wind up at UND in South Bend, Indiana, on August 23.
An article about the ride, by Julie Hail Flory, gives more background about the motivation for the ride:
Notre Dame and the Parseghian Foundation last month announced an enhanced relationship formed in order to support and advance research initiatives to find treatment and cure options for Niemann-Pick Type C (NPC), a rare and deadly neurodegenerative disease that primarily strikes children before or during adolescence.
“The ride is a celebration of the unique relationship between Notre Dame and the Parseghian Foundation,” Dean Crawford said. “Through the partnership, we will fund not just Notre Dame scientists looking for treatments and cures for this disease, but also young researchers at other universities in order to form new partnerships – and build on existing ones – as we work toward our common goal of tackling this devastating disease.”
Click here to read the full article.
Supporters can make donations via the Crawfords' blog, Desert to Dome: Riding for the Lives of Children, at http://blogs.nd.edu/gregcrawford/ . Photos and frequent posts keep readers up-to-date on the pair's progress, with the ride being tracked on Google maps.
[Aug 4, 2010 mem]
2010 NNPDF Family Directory, Posters and Brochures
The Central Office of the NNPDF has been busy developing and updating some important foundation publications which are now available to the membership.
Family Directory -- One important benefit of membership in the NNPDF is the ability for families affected by Niemann-Pick Disease to network with other families who understand and care. The NNPDF Family Directory has proven to be a useful tool in establishing and fostering those family connections and relationships, and it provides a means for families to reach out to other families for support and sharing of information.
Member families should be watching their mail for the newly-updated 2010 NNPDF Family Directory. (The directory is only distributed to member families.) The information in the Family Directory is published with the permission of those included, and must be kept confidential. In providing the directory, the NNPDF expects all recipients to be respectful and courteous in the use of personal contact information.
Posters -- Also included in the mailing is an order form for some exciting new posters to raise awareness of Niemann-Pick Disease. There are four different posters, all available for your fundraising and awareness events. Follow these links to view the posters and to access an order form:
Research Is Our Only Hope poster "Apple" poster "Chalkboard" poster "DNA Ball" poster
All four posters are 18" wide by 24" high. You can also print the posters from the PDFs linked above.
Brochures -- The mailing also includes copies of two new brochures about NPD ASMD (also known as Type A, A/B, or B) and NPD Type C (NPC). Please use the order form linked above to request additional brochures and newsletters for your family's fundraising and awareness events.
Online Auction -- Also included in the mailing is information about an important (and very fun!) new fundraising project of the NNPDF. During October National Niemann-Pick Disease Awareness Month, the NNPDF will sponsor a nationwide online auction to raise funds in support of research and family services. Online auctions are growing in popularity and are proving an exciting and effective means for charities to raise much-needed funds. The success of the NNPDF auction depends on you, the families of the NNPDF membership. Please read the information about the auction and determine what you might be able to donate (or solicit from corporate donors) for the auction, and then get ready to bid high, bid often!
We look forward to receiving your feedback on these projects which are in support of our "Quest for a Cure."
[July 30, 2010 mem]
Promising Therapies for Niemann-Pick Type C Disease
National Institute of Neurological Disorders and Stroke Meeting
June 2010
We have had quite a bit of discussion on our listserv pertaining to the recent research and treatment options for Niemann-Pick Type C (NPC) Disease.
To provide some background and insight for these continuing discussions, we have compiled a summary of the presentation abstracts from the "Promising Therapies for Niemann-Pick Type C Disease" meeting sponsored by the National Institute of Neurological Disorders and Stroke (a division of the US National Institute of Health) in Rockville, Maryland, June 3-4.
[July 9, 2010 mem]
Emily Jane Hrbacek
July 15, 1999 - July 1, 2010
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Emily Jane Hrbacek (NPC) |
It is with great sadness that we pass along word of the loss of Emily Jane Hrbacek due to Niemann-Pick Disease Type C. The beloved daughter of Scott and Laura Hrbacek of Eureka, Missouri, Emily was just shy of her 11th birthday.
We received this message from Emily's family:
This morning Emily passed away peacefully and is no longer suffering. Emily passed from the complications of Niemann-Pick Disease. Emily put up a long fight but in the end now the fight is over. Emily had the most beautiful eyes and a smile that melted everyone's heart. Emily was the best child that God could have given us and she will be missed by many. God bless our angel.
A visitation will be held at Most Sacred Heart Church, 350 East Fourth Street, Eureka, on Sunday, July 4th, from 3:00 - 8:00 p.m. Funeral mass will be at 10:00 a.m. on Monday, July 5th, also at Most Sacred Heart, with burial at Holy Cross Cemetery.
Our deepest sympathy to Emily's parents, family and many friends.
[July 1, 2010 mem]
NNPDF Announcement
Please read the following message from NNPDF Board Chair Karen Quandt:
Cate Walsh Vockley, the National Niemann-Pick Disease Foundation’s Coordinator of Education, Referral and Advocacy, has resigned her position with the NNPDF as of June 30, 2010. The NNPDF Board of Directors and the Central Office will be addressing all inquiries to assist our family membership and work to ensure that there is no interruption of family support, referrals and services. Please contact the Central Office at 1-877-287-3672 or email nnpdf@nnpdf.org.
Cate has been a passionate advocate at the NNPDF for the patients and families affected by all types of Niemann-Pick Disease for the past six years. She has been an integral part of our family support services and has helped many families navigate through the uncharted emotional and medical maze that goes along with a rare disease. We will miss her and we wish her well in all her future endeavors.
Thank you, Cate, for your dedicated service to help make the foundation a strong and reliable place for families to seek assistance and advice in our quest to care for our family members and to find a treatment or cure for Niemann-Pick Disease.Karen Quandt
NNPDF Chair
Cate's message to the membership of the NNPDF:
Dear NNPDF Friends,
My contract with the Foundation will end as of June 30, 2010. I have enjoyed my work with the Foundation and especially with the many families with whom I have interacted over the years. Dealing as we have, with the many sensitive issues that affect families of those with chronic, debilitating conditions, has created connections that will stay with me forever.
I will continue to support the goals and mission of the Foundation, and pray that the effective treatment and cure you seek will come soon. I will be continuing my work in the field of rare disease recognition and therapeutics, but with a different focus for now. I do hope to see some of you in the future, at meetings or gatherings that support common goals.
I wish you all the best!
Kind regards,
Cate
Cate Walsh Vockley, MS, CGC
Senior Genetic Counselor
Division of Medical Genetics
Children's Hospital of Pittsburgh
One Children's Hospital Drive
4401 Penn Avenue
Pittsburgh, PA 15224
Tele: 412-692-7349
Fax: 412-692-7073
catherine.walshvockley@chp.edu
Any questions or inquiries may be directed to the NNPDF Central Office.
[June 30, 2010 mem]
2010 Alex and Laura Vaughan Memorial Golf Tournament
Raises $22,000 for the Fight Against NPD!
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| The 2010 Alex and Laura Vaughan Memorial Golf Event featured a silent auction and dinner in addition to golf. | |
The 8th Annual Alex and Laura Vaughan Memorial Golf Event, held on June 19, was a huge success, raising $22,000 for the fight against Niemann-Pick Disease. Thanks to the many participants, donors and supporters and to cooperation from the weather, a wonderful day was enjoyed by those in attendance, all while benefiting a worthy cause.
Visit our Recent Events page for more details and a photo of the winning team of golfers.
[June 21, 2010 mem]
Brooke Lynn Thomas (NPC)
March 5, 2001 - June 16, 2010
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Brooke Lynn Thomas (NPC) |
With very heavy hearts, we inform you of the passing of little Brooke Thomas, 9-year-old daughter of D.J. and Vicki Thomas of Blair, Nebraska. Brooke was able to complete the school year which ended a few weeks ago, but developed complications from a case of pneumonia. Despite their heartbreaking loss, the family is taking comfort in the knowledge that prior to her unexpected death, Brooke was a happy, carefree and engaged little girl who enjoyed life.
Brooke is survived by her parents; a sister, Shawn McAllister; and grandparents, aunts, uncles, cousins and many loving friends.
A celebration of Brooke's life will be held Monday, June 21st, at 10:00 am at Salvation Army Citadel, 3738 Cuming Street, Omaha, with a visitation Sunday, June 20th, from 2:00 -6:00 pm at Braman Mortuary, 1702 N. 72nd Street, Omaha. Visit www.bramanmortuary.com to leave a message of condolence.
Memorials may be directed to the National Niemann-Pick Disease Foundation.
Our deepest sympathy to all Brooke's family and friends in their loss.
[June 18, 2010 mem]
LoganFest III a Roaring Success!
Puyallup, Washington
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| Karen and Gene Quandt with son Ty at LoganFest III |
The Kalles Junior High School's LoganFest 3-on-3 basketball tournament saw 35 teams of all ages competing to help raise funds and awareness for Niemann-Pick Disease in honor of Kalles seventh-grader Ty Quandt (NPC).
Teams played a minimum of four 20-minute games, leading up to the championship games. Prizes for first and second place teams, raffle prizes, "Persevere" t-shirts, team t-shirts and concessions added to the action.
In addition to Kalles students, teachers, staff and families, donors and supporters included Ty's friends and former teachers from Mt. View Elementary School.
LoganFest is named in honor of a child who inspired the first event in his fight against neuroblastoma cancer. The school's motto, "Tyee Goodness" (from the Chinook Jargon), implies acts of kindness, and LoganFest is just one example of how Kalles Junior High embodies "Big Goodness."
Videos from LoganFest III are posted to YouTube:
Set to "I Gotta Feeling" by Black Eyed Peas (1:45)
Set to "Wait til You See My Smile" by Alicia Keys (4:03)
[June 9, 2010 mem]
Genzyme Marathoners Raise Funds and Awareness for Rare Diseases
Two Run Boston Marathon in Honor of Niemann-Pick Disease Type B
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A team of runners from Genzyme (left) competed in the 2010 Boston Marathon, raising funds and awareness for the National Organization of Rare Diseases. Two Genzyme team members ran in honor of Collin and Cohen Parody (NPB) (right) and wore shirts with the boys' photo on them. |
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A team of runners from Genzyme Corporation competed in the 2010 Boston Marathon this spring, raising approximately $25,000 for the National Organization of Rare Diseases (NORD). Each runner or pair of runners raced in honor of someone affected by a rare disease, and two of the marathoners were matched up with Collin and Cohen Parody, both affected by Niemann-Pick Disease Type B. The runners wore shirts with a photo of the boys, and ran in their name.
The runners spoke of their excitement and sense of meaning in running in honor of a specific individual affected by a rare disease. As one runner commented, "I just have to say that working on this has made the experience so much more significant for me. Besides putting a human connection on the whole venture, it puts what we’re doing in perspective....
The fundraising and awareness are as much a part of this – if not more so – than the running is now. And that’s saying a lot, considering we’re runners! "
[June 7, 2010 mem]
Joseph James Colton (NPA/B)
May 18, 2005 - May 19, 2010
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Joseph James Colton (NPA/B) |
Joseph was a happy child from the day he was born until the day he died. His enthusiastic smile brightened the room. Joseph loved to attend his brother's baseball and football games, watching and rooting for the teams to score. Joseph enjoyed birthday parties, listening to music while dancing in his chair, hanging out in his community pool, taking morning or evening walks through his neighborhood and stopping to toss acorns into the water from the bridges.
We can all learn from Joseph's example how to embrace the simple pleasures available to us in each precious day. While his life was far too short, it was a life well-enjoyed and well-lived.
Our deepest sympathies go out to Joseph's family and friends in their loss.
[May 27, 2010 mem]
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18th Annual NNPDF Family Support and Medical Conference |
The NNPDF Family Support and Medical Conference Planning Group is hard at work developing an agenda chock-full of information (and fun!) for the 18th annual conference, scheduled for August 5 - 8, at Toronto's Delta Chelsea Hotel. A detailed agenda will be available in the next few weeks. In the meantime, to help you plan your travel, here is a Schedule-at-a-Glance. For attendees who will be driving to the conference, or who may plan to rent cars during their trip, we have parking information, as follows: Patrolled underground parking is available at the Delta Chelsea Hotel, at a special conference rate of $20 per day (CAD) (normally $28 per day), with 24-hour access. The $20/day (CAD) rate also applies to oversized vehicles, with a limited number of spaces available. Ground-level public parking is also available adjacent to the hotel on Gerrard Street, at a rate of $16 (CAD) per 12 hours. This conference will be the first international conference of its kind, and is being co-hosted by the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF), and the Cowie, Vaughan and Liegghio families, all of Canada. If you did not receive a conference registration packet, please contact the NNPDF, or visit our Family Conference page for complete details and links to download the registration packet and forms. [May 26, 2010 mem] |
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Deborah Pleasant Williford
January 29, 1949 - May 2, 2010
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Deborah Pleasant Williford |
We have received word of the death of 61-year-old Deborah Pleasant Williford of North Carolina from Niemann-Pick Disease.
Deborah is survived by her sister, Sharon Marsha P. Kendall of Wendell; and many special nieces and nephews and aunts and uncles.
The family will receive relatives and friends from 6:00 to 8:00 p.m. Wednesday, May 5, 2010 at L. Harold Poole Funeral Service & Crematory, 944 Old Knight Road, Knightdale, North Carolina.
Funeral services will be held at 11:00 a.m. Thursday, May 6, 2010, also at L. Harold Poole Funeral Service chapel.
Memorials may be made to the National Niemann-Pick Disease Foundation at the family's request.
Our deepest sympathy to Deborah's family in their loss.
Ironman Raising Funds and Awareness for Niemann-Pick Disease
A message from NNPDF member, Anne Marie OConnor-Smith:
https://www.kintera.org/faf/donorreg/donorpledge.asp?ievent=318597&supID=279813450 There are currently 48 registered participants, Janus matches the top 50. |
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Here are the rules for the Janus fund matching donations:
So, if we can get another $445 in the next 5 weeks, we will get the extra $750 from Janus!! Total contribution would be $1,500 to the NNPDF!!!!!! But why stop there! Let’s see if we can’t propel Mike into the top 6 and really leverage our efforts ~ not only his work and sweat equity on the day of the event ~ but the heart and determination that every person diagnosed with NPD utilizes each and every day ~ we could truly make a difference to the work and research supported by the NNPDF! If you are able we would consider your support of his efforts on June 27th at the Coueur d'Alene IronMan Triathlon a true testament to every NPD child, adult and family. Thank you in advance for your consideration, To read more about the Janus Ironman Charity Challenge, visit: http://www.januscharitychallenge.com/site/c.egLOIYOGKtF/b.591535/k.4568/Program_Overview_and_Requirements.htm [May 25, 2010 mem] |
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FDA grants “Orphan Drug Designation” to Cyclodextrin for treatment of
Niemann-Pick Disease Type C
Due to the efforts of Hugh and Chris Hempel, Dr. Caroline Hastings and Ron Browne, an application to the Food and Drug Administration requesting “Orphan Drug Status” for Cyclodextrin has been approved.
What exactly does that mean for our NPD community? It is important to emphasize that an Orphan designation does not make any assessment at all on how the drug works in clinical trials, whether it is safe or effective in patients, nor whether it will ever be commercially available – the Orphan designation’s main purpose is to make the development of the drug more financially viable for the developer.
Please visit our cyclodextrin page for a bit of background and glossary terms that will help you to understand this latest development.
[May 21, 2010 mem]
Helping Children with Grief
"Sargeant's Heaven" Deals with the Loss of a Sibling
NNPDF member Judy DeSouza recently met Connecticut State Senator L. Scott Frantz and his wife Icy Frantz, who lost their 2-year-old son, Sargeant, to a mitochondrial disease. Icy Frantz has written and published a children's book titled, "Sargeant's Heaven," which may help children cope with the grief of losing a sibling.
NBC's Ann Curry interviewed Icy Frantz in this Making a Difference segment.
For additional resources, check out our Grief Support Resources and Coping with NPD pages.
[May 18, 2010 mem]
"Promising Therapies for Niemann-Pick Type C Disease"
NIH (NINDS) to Sponsor Meeting
June 3 - 4, 2010
The National Institutes of Health (NIH) National Institute of Neurological Disorders and Stroke (NINDS) is sponsoring a meeting in early June titled "Promising Therapies for Niemann-Pick Disease Type C Disease." This meeting, set for June 3 - 4, at the Rockville, Maryland Hilton Hotel, is open to scientists, physicians and families until the maximum registration has been reached.
The tentative agenda for the meeting (subject to change) is available here, and travel and lodging information for non-sponsored attendees is available here. To register online, please visit Promising Therapies for Niemann-Pick Type C Disease Registration Link .
[May 12, 2010 mem]
"Embracing Every Moment"
Newspaper Features Spencer Family
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Rebecca Spencer and son, Johnathan |
The Gilroy Dispatch (California) ran a feature April 29th on 4-year-old Johnathan Spencer's recent diagnosis with Niemann-Pick Disease Type C. Johnathan, the son of Keith Spencer and Rebecca Spencer, lives life with joy despite the challenges of the disease. The article, titled, "Embracing Every Moment," details the family's journey to the diagnosis and how they are coping with the heartbreak of an NPC diagnosis.
Click here to read the article and see more photos.
[May 3, 2010 mem]
Caileen Harley Harrison (NPA/B)
May 7, 2008 - April 19, 2010
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Caileen Harrison and her mom, Valerie Montgomery |
We are very sorry to pass along word of the death of little Caileen Harley Harrison, just short of her 2nd birthday, due to complications of Niemann-Pick Disease Type A/B. Caileen was the daughter of Valerie Montgomery and Collis Harrison, both of California.
Kelly Puente of the Long Beach (California) Press-Telegram filed this story on the joy Caileen brought her family despite her struggle with Niemann-Pick Disease.
Our deepest sympathy goes out to all Caileen's family and friends in their loss.
[April 30, 2010 mem]
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New Communication Tools in Use at NNPDFFacebook, blog, RSS.....we are learning some new language at the NNPDF. The above are all electronic communication tools to help us relay up-to-the minute news and information about our Niemann-Pick Disease community and happenings to all our members and friends. |
On each page of our Web site, in the blue border on the left (between the words "Donate Now" and the Pico Search feature), you will see three square icon buttons. Click on them and they will link you to our blog, our Facebook page, and the RSS feed, left to right. [April 30, 2010 mem] |
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Ty's Story in 2010 Neuro Film Festival
Sponsored by American Academy of Neurology Foundation
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| Karen Quandt and Ty Quandt (NPC) |
Hi all,
Here is the video of Ty (Ty's Story) that is on YouTube as part of the 2010 Neuro Film Festival sponsored by the American Academy of Neurology Foundation (AANF). They are having a Neuro Film Festival at the convention in Toronto this Sunday. It is the largest convention of neurologists in the world.
So far Ty's video has been viewed 1,057 times! They have given the YouTube link to the neurologists attending or interested in this conference, so many of those views were by neurologists. They may show Ty's video at the conference on Sunday; I won't know for sure until they post information this weekend. Dr. Patterson will be at this conference and I sent him the video so he would know it is part of the Neuro Film Festival on YouTube and may be shown at the conference as well.
They said they will be doing the AANF Neuro Film Festival again next year. The convention is in Hawaii next year and the winners of the Neuro Film Festival get to attend the conference. Since we have so many families making videos, maybe we should let everyone know about this and have the families submit their videos if they so choose!
Karen Quandt, MN
NNPDF Board Chair
Mom of Ty Quandt (NPC)
[Apr 9, 2010 mem]
Save the Date!
Watch Your Mail for 2010 Family Conference Info
The NNPDF is mailing out "Save the Date" card for this summer's 18th Annual Family Support and Medical Conference scheduled for August 5 - 8, in Toronto! Put the card up on your refrigerator and mark your calendar now for your visit to our good friends to the north.
For more conference details, visit our Family Conference page frequently, as new information is added almost daily. Complete registration packets will be mailed to member families in May. Early birds can find conference registration forms, Helping Hand Stipend application forms, and many tips for trip planning on our Web page in the meantime.
[Apr 1, 2010 mem]
Health Canada Approves Zavesca for Use in Niemann-Pick Type C
First Authorized Treatment in Canada
Health Canada recently announced its approval of the drug Zavesca (miglustat) as the first authorized treatment for neurological symptoms of Niemann-Pick Disease Type C (NPC). Zavesca is not a cure for NPC, but it has shown promise in treating symptoms related to NPC and in slowing the progression of the disease for some patients.
In addition to Canada, Zavesca has been approved for use in NPC in the European Union, South Korea, Brazil, Russia and Australia. (Currently, in the United States, Zavesca can only be prescribed "off-label" for use in NPC. Visit the Treatment Options for NPC page for more information.)
For more details and the press releases, click here.
[Mar 24, 2010 mem]
Passport Day in the USA
Saturday, March 27th
On Saturday, March 27th, the U.S. Department of State will celebrate “Passport Day in the USA,” a national outreach event to inform the public about upcoming changes to U.S. travel document requirements, provide passport information and accept passport applications.
All Department of State Passport Agencies, and many Passport Acceptance Facilities around the country, will host passport application acceptance events. U.S. citizens without a valid passport book or passport card are encouraged to apply on this day.
The 18th Annual NNPDF Family Support and Medical Conference is being held in Toronto this August, and everyone traveling to Toronto from outside Canada (including the United States) will need passports. Saturday's event is a great opportunity to tick that item off your list.
Visit the U.S. Department of State Web site for more information about the March 27th event and to find locations near you.
[Mar 23, 2010 mem]
Puyallup School District Honors Nancy Kreuger
Educator, Volunteer and Friend
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| Ty Quandt (NPC), with paraeducator and friend, Nancy Kreuger |
The Puyallup (Washington) School District recently recognized Mt. View Elementary paraeducator Nancy Kreuger as a District Employee of the Year. Kreuger assisted Ty Quandt (NPC) at school one-on-one for the past five years. (Ty, as a seventh-grader, has now moved on from the elementary school.)
Kreuger has been with the Puyallup District since 1990 and has been a paraeducator at Mt. View Elementary all of those 20 years. This year she works in the school library, coordinates Associated Student Body leadership and community service activities, and mentors a student in the district's Advance Program.
Mt. View Elementary Principal Nancy Strobel said about Nancy, "She has such a positive attitude and takes initiative. When Nancy sees that something needs to be done, she figures out a way to make it happen ... She has made a difference in many, many lives."
"Kreuger," as many call Nancy, has also been a valued volunteer for the NNPDF at fundraisers and at the 2009 Family Conference, and plans to also help at the 2010 conference.
Congratulations, and many thanks, "Kreuger," for all you do!
[Mar 22, 2010 mem]
"March Gladness" Strikes in Edgewood, Washington
Elementary Students' Service Project Benefits Two Causes
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| "Shoeboxes for Soldiers" combines with "Persevere" campaign for student service project |
Students at Mt. View Elementary School in Edgewood, Washington, participated in their district's "March Gladness" volunteer event with a creative project simultaneously benefiting soldiers and the Niemann-Pick Disease awareness "Persevere" campaign.
Visit our Recent Events page for more pictures and all the details.
[March 19, 2010 mem]
PBS TV SPECIAL
Rare Disease Diagnosis Through Technology - Part III
From its first days, DNA sequencing has proven to be invaluable to doctors and researchers. The completion of the Human Genome Project marked a significant achievement for the scientific and medical community, giving them important information about genetic diseases.
In the third of a three-part series on DNA sequencing, PBS’ To The Contrary continues its look at what the future holds for this rapidly developing area of scientific discovery. This series also showcases the potential for DNA diagnostics in advancing patient care while building awareness and understanding of this innovative technology and its impact on the rare disease community.
PBS air dates for the third segment are March 26th - 28th; check your local listings for air times. The program will also be available later via podcast through PBS' To The Contrary Web page.
A DVD of the previous segments, which aired in January and February, is available through the Children's Rare Disease Network.
[Mar 17, 2010 mem]
Daily Jefferson County Union Reports on FDA Announcement Regarding Zavesca
The newspaper of the NNPDF Central Office's hometown (Fort Atkinson, Wisconsin), the Daily Jefferson County Union, published an article regarding the FDA's recent "complete response letter" on Zavesca (miglustat) for the treatment of Niemann-Pick Disease Type C (NPC).
To read the March 16 Daily Union article, click here.
[Mar 17, 2010 mem]
Report from WORLD Meeting
Cate Walsh Vockley, NNPDF Coordinator of Education, Referral and Advocacy, recently returned from the 2010 WORLD (We're Organizing Research for Lysosomal Diseases) meeting.
Click here to read Cate's summary of the meeting's sessions.
[Mar 17, 2010 mem]
Puyallup Herald Features Karen Quandt, NNPDF Board Chair
The Puyallup (Washington) Herald recently published a feature on Karen Quandt of Edgewood, Washington, and her new role as NNPDF Board Chair.
[Mar 17, 2010 mem]
Actelion Receives FDA "Complete Response Letter" for Zavesca (miglustat)
for the Treatment of Niemann-Pick Type C Disease
ALLSCHWIL/BASEL, SWITZERLAND - 09 March 2010 - Actelion Ltd (SIX: ATLN) announced today that the company has received a complete response letter from the U.S. Food and Drug Administration (FDA) for its supplemental New Drug Application (sNDA) for Zavesca® (miglustat) for the treatment of progressive neurological manifestations in adult and pediatric patients with Niemann-Pick type C (NP-C) disease, a rare, neurodegenerative genetic disorder.
The FDA has requested additional preclinical and clinical information. Actelion will work diligently with the FDA to explore the best ways to address the points raised by the agency.
Jean-Paul Clozel, M.D. and Chief Executive Officer of Actelion commented: "We remain committed to bringing an approved treatment to patients suffering from NP-C disease and in this spirit we will continue the dialogue with the FDA."
Read the full press release here: http://www1.actelion.com/en/our-company/news-and-events/index.page?newsId=1392243
Dear Families of the NNPDF:
It is with deep regret that I pass along word that the United States FDA has chosen NOT to approve Zavesca (miglustat) for the treatment of NPC at this time. We have learned in our discussions with Actelion representatives that there are three possible outcome scenarios with regard to FDA announcements as it pertains to New Drug Applications:
1) An Approval Letter
2) A Non-Approval Letter (straight denial)
3) Complete Response Letter (which is what Actelion has received)
For more information about the FDA Complete Response Letter ~ please refer to this link:
http://www.fda.gov/Drugs/GuidanceComplianceRegulatoryInformation/LawsActsandRules/ucm084143.htm
With the "Complete Response Letter" the FDA allows the pharmaceutical company to continue to explore and collect data which might more clearly show the positive impact that the drug has on the treatment of the disease. In addition, the CEO of Actelion, Jean-Paul Clozel, MD has indicated that they intend to remain committed to moving forward towards an approval with regards to Zavesca for patients suffering from NP-C.
In the European Union, South Korea, Brazil, Russia, Australia and Canada, Zavesca® is indicated for the treatment of progressive neurological manifestations in adult and pediatric patients with Niemann-Pick type C disease.
We will keep you abreast of new developments as we become aware of them ~ WE WILL PERSEVERE!
Kind Regards,
Nadine
[Mar 9, 2010 mem]
Editorial Highlights FDA's Consideration of Zavesca
and the Work of the NNPDF
The Daily Jefferson County Union, published in Fort Atkinson, home of the NNPDF's Central Offices, recently ran an editorial highlighting the FDA's consideration of Zavesca for use in NPC, and in support of the years of hard work and progress made by the foundation.
Please click here to read the editorial.
[Mar 9, 2010 mem]
NIH and FDA Announce Collaborative Initiative
Partnership to Speed New Treatments to Patients
The U.S. Food and Drug Administration and the National Institutes of Health have announced an initiative intended to accelerate the timeline between scientific breakthrough and the availability of innovative medical therapies to patients.
From the NIH's press release:
The initiative involves two interrelated scientific disciplines: translational science, the shaping of basic scientific discoveries into treatments; and regulatory science, the development and use of new tools, standards and approaches to more efficiently develop products and to more effectively evaluate product safety, efficacy and quality. Both disciplines are needed to turn biomedical discoveries into products that benefit people.
As part of the effort, the agencies will establish a Joint NIH-FDA Leadership Council to spearhead collaborative work on important public health issues. The Joint Leadership Council will work together to help ensure that regulatory considerations form an integral component of biomedical research planning, and that the latest science is integrated into the regulatory review process.
Click here to read the entire press release.
[Mar 5, 2010 mem]
Ideas for Change in America
Cast Your Vote in Favor of Rare Disease Issues
Dear NNPDF Members,
Let your voice and your vote be heard!
Ideas for Change in America is a competition that empowers citizens to identify and build momentum around a diverse range of ideas for addressing the challenges our country faces.
From January - February 2010, more than 2,500 ideas were submitted and voted on by 100,000 people across the country. The top three rated ideas from each issue category qualified for the final round. These topics can be found at http://www.change.org/ideas.
Right now, 25 Million+, It is time to care about rare disease is rated as the #1 overall topic!
Let's help it stay at the top. Comments from voters focus on the needs of the rare disease community as research moves toward effective new therapies.
Final round voting begins on March 1 and ends on March 12. The 10 most popular ideas will be presented to relevant members of the Obama Administration, and Change.org will subsequently mobilize its full community to support a series of grassroots campaigns to help turn each idea into reality.
Please take a few minutes and cast your vote on behalf of all who are affected by rare disease.! Thank you!
Cate Walsh Vockley
NNPDF Coordinator of Education, Referral and Advocacy
[March 3, 2010 mem]
Newspaper Features FDA Review of Zavesca
Lead Story for Daily Jefferson County Union
The Daily Jefferson County Union ran as the lead story the FDA's review of Zavesca (miglustat) for use in Niemann-Pick Type C patients on February 24. The Daily Union interviewed NNPDF Board Vice Chair Barb Vorpahl regarding her testimony to the FDA advisory committee and the subsequent review of Zavesca by the FDA.
The story was triggered by a press release issued by the NNPDF Central Offices, and was then expanded into a full length news feature. Click here to read the story published by the Daily Union.
[Feb 25, 2010 mem]
Letter to FDA in Support of Zavesca (miglustat) Application
Request for NPD Families to Sign On
Good Afternoon NNPDF Families and Friends,
As many of you know, the United States Food and Drug Administration (FDA) is
currently reviewing trial data information
pertaining to the application for
Zavesca as the first-ever treatment regimen for Niemann-Pick Disease Type C.
A Drug Advisory Review Committee and Panel convened in January 2010, in
Maryland where much of this information was presented and at which Barb
Vorpahl, chair of the NNPDF, Cindy Parseghian, president of the APMRF, and
Phil Marella,
of DART, were able to make personal appeals to the
committee/panel members on behalf of all children and young adults diagnosed
with Niemann-Pick Disease Type C.
Many families submitted personal letters in support of this application
review process and these family statements and testimonials had a REAL
impact on the members of the review panel. As a follow-up to this effort
and in continued support of our family membership, Phil Marella [Dad to Dana
(NPC ~ age 16) and Andrew (NPC ~ age 10)] is submitting this letter to
the FDA.
Phil is hoping to gather the backing of as many NPC families as possible and
will add each family name, NPC child and age, city and state to this letter
in support of the FDA Zavesca review process.
If you would like to have your family information included with this letter
indicating your support of these efforts ~ please e-mail
Phil Marella
directly at: pmarella@optonline.net
Include the following information:
Family Name
NPC Family Member Name and Age
City and State
Phil will then submit this letter on behalf of all participants.
Thank you to Phil and all for your continued efforts on behalf of this
effort.
Kind Regards,
Nadine
Letter from Phil Marella to FDA in support of Zavesca (miglustat)
[Feb 18, 2010 mem]
PBS TV SPECIAL
Rare Disease Diagnosis Through Technology - Part II
From its first days, DNA sequencing has proven to be invaluable to doctors and researchers. The completion of the Human Genome Project marked a significant achievement for the scientific and medical community, giving them important information about genetic diseases.
In the second of a three-part series on DNA sequencing, PBS’ To The Contrary takes a look at second-generation DNA sequencing technology like the SOLiD 3 Sequencing System and what the future holds for this rapidly developing area of scientific discovery. Tune in the weekend of February 19th as Dr. Richard Gibbs, director of the Human Genome Sequencing Center at Baylor College of Medicine explains the science behind DNA sequencing and how it is helping children and families diagnosed with a rare disease.
PBS air dates are Feb. 19-21st; check your local listings for air times. The program will also be available later via podcast through PBS' To The Contrary Web page.
A DVD of the first segment, which aired in January, is available through the Children's Rare Disease Network.
[Feb 18, 2010 mem]
Social Security Expands "Compassionate Allowance" Conditions List
NPC Among Conditions Added
The U.S. Social Security Administration has expanded the list of conditions included in its "Compassionate Allowances" program, providing expedited review of disability applications from people with severely disabling conditions. The Compassionate Allowances program began in 2008, with a list of 50 diseases including 25 rare diseases and 25 cancers. This is the first expansion of the list, and Niemann-Pick Disease Type C is now included under the program.
The Social Security Administration (SSA) selected the 38 additional diseases from those recommended at public hearings and a process of information-gathering. The National Organization of Rare Disease (NORD) Medical Advisory Committee provided input to SSA during the process, along with medical experts from the National Institutes of Health and other organizations.
NORD issued this press release about the announcement, including the full list of 38 diseases added. You can also read more about the Compassionate Allowances program at the SSA Web page.
[Feb 11, 2010 mem]
Damon's Story
 |
| Damon Cardinal (NPA) 12/26/06 - 4/16/08 |
Little Damon Eli Cardinal, lost to Niemann-Pick Disease Type A at the age of 16 months, lives on in the hearts of his family as they work to increase awareness and raise funds for the fight against Niemann-Pick Disease. This video of a news story about Damon and the Cardinal family has now been uploaded to YouTube, spreading Damon's story and educating others about the disease just in time for World Rare Disease Day on February 28.
[Feb 4, 2010 mem]
"Inspirational Quilt" Showcases NPD Family Videos
The movie Extraordinary Measures, set to premier January 22, is hosting a video contest with a theme of "Make Your Own Miracle." Several of our NNPDF families have entered videos in the contest, focusing on the families' personal messages in support of NPC research. For more details, visit our Upcoming Events page.
[Jan 15, 2010 mem]
United States FDA Advisory Committee Backs Use of Zavesca for NPC
Significant Step Toward Possible FDA Approval
 |
| NNPDF Member families, researchers and media attended the FDA advisory committee's review of Zavesca (miglustat) on January 12. |
An advisory committee comprised of medical and clinical experts will recommend to the U.S. FDA that Zavesca (miglustat) be approved for use in Niemann-Pick Disease Type C (NPC) patients. The advisory committee reviewed data and heard statements and testimony from scientists, doctors and NPC families in a daylong review January 12.
If the FDA approves the use of Zavesca for NPC, it will be a historic step, as this would be the first authorized treatment for the symptoms of NPC in the United States.
Many NNPDF member families submitted letters to the advisory panel in advance of the hearing, regarding the impact Zavesca has had on their family member, or what the availability of Zavesca might have meant for a loved one already lost to NPC.
Barb Vorpahl, NNPDF Board Chair, addressed the panel on behalf of NNPDF families (read Barb's presentation here), along with Cindy Parseghian of the Ara Parseghian Medical Research Foundation (APMRF) and Phil Marella of Dana's Angels Research Trust (DART).
Dr. Isaac Kobrin, Actelion's chief medical officer, told the panel, "This is a relentlessly progressive disease. We clearly see a change in the progression rate (with Zavesca). It's a very clear signal."
Weighing the risk of the drug versus potential benefits, Katherine Flegal, a senior research scientist at the Centers for Disease Control and Prevention, stated, "The risk from the drug is not devastating, but the disease is devastating. I think patients deserve an opportunity to see if they can benefit."
Reuter's News Service published this article about the hearing and decision.
From the Reuter's article:
Doctors can prescribe Zavesca now for NP-C, but Actelion needs FDA clearance to market the drug specifically for that use. Patient advocates also said insurers are reluctant to pay for the drug for NP-C patients without the approval.......The FDA usually follows panel recommendations when deciding whether to approve medicines. A decision [from the FDA] is due by March 10.
[Jan 13, 2009 mem]
Richard Joseph Carpenter (NPC)
April 3, 1969 - January 4, 2010
 |
 |
Rich Carpenter (NPC) |
|
Richard J. "Rich" Carpenter, age 40, of Bloomfield Hills, Michigan, died on January 4, after a long battle against NPC. Beloved son of Edward and Mary Carpenter, Rich is also survived by four brothers and a sister: Catherine Kelly (Timothy), Edward S. Carpenter, III (Michelle); Charles M. Carpenter (Sara), Christopher F. Carpenter, M.D. (Shelley), and Thomas K. Carpenter (Julianne). Survivors also include thirteen nieces and nephews.
The family will receive friends and relatives at A.J. Desmond & Sons Funeral Home, 2600 Crooks Road, Troy, Michigan, on Monday, January 11, from 4 - 8 p.m., with a Scripture service at 7 p.m. A memorial mass will be held Tuesday, January 12, at 11 a.m., at St. Hugo of the Hills Stone Chapel, 2215 Opdyke, Bloomfield Hills.
Our sincere condolences to Rich's family and friends in this time of loss.
[Jan 8, 2010 mem]
 |
Rare Disease Day |
 |
|
An estimated 30 million Americans are affected by a rare disease! Rare Disease Day is an annual event observed worldwide on the last day of February. The purpose of this day is to raise awareness of rare diseases as a public health issue. Rare Disease Day 2010 will also celebrate the special relationship between patients and rare disease researchers. Visit our World Rare Disease Day page for more information about how you can get involved in raising awareness. The National Organization for Rare Diseases (NORD) is the sponsor of Rare Disease Day in the United States, and EURORDIS is the sponsor in Europe. Mark your calendar, and join hands with others affected by rare diseases to raise awareness. Watch this site for more information and ideas about how your family can get involved. |
|||
Ryan Richardson Practical Nursing Scholarships Presented
 |
 |
| Ryan Richardson (NPC)
5/27/00 - 10/18/05 |
Left to right: Amber Hunter, Sherry Richardson (Ryan's mom), and Jennifer Fair |
Congratulations to the two practical nursing program students who have been awarded the Ryan Richardson Practical Nursing Scholarship! Amber Hunter, SPN, and Jennifer Fair, SPN, each received the scholarship in memory of little Ryan Richardson, who passed away due to NPC in 2005 at the age of five years. Ryan is the son of Christopher and Sherry Richardson of Crestview, Florida. Hunter and Fair both attend Walton Career Development Center in Defuniak Springs, Florida, the same nursing school where Ryan's mom, Sherry, graduated in 2008. [Dec 31, 2009 mem] |
|
Endocrinologic and Metabolic Drug Advisory Committee Meeting
~ New Drug Application ~
ZAVESCA (miglustat) by Actelion Pharmaceuticals
Public Participation Information ~ Written NPC Testimonials
DEADLINE EXTENDED: Until Friday, January 1st, 2010
(Initial Deadline of Monday, December 28th, 2009 ~ extended until Friday, January 1st, 2010.)
GOAL: FDA approval for the use of Zavesca (miglustat) in NPC.
We have received word of an important and historic FDA related drug advisory committee meeting which is to be held in Maryland on January 12th, 2010, which will review Zavesca as a possible treatment and therapy for Niemann-Pick Disease Type C. An advisory committee panel of medical and clinical experts will gather together to review information and learn the data particulars as it relates to the use of Zavesca in NPC patients.
A segment of this meeting protocol allows for the participation of the public to submit written impact statements on the use of Zavesca ~ we would like to encourage our NPD family membership to take part in this portion of the meeting. With that in mind we have developed an informational sheet and guideline to assist those who wish to submit a written testimonial.
An announcement letter and helpful guidelines are available here.
You can read and learn more about this meeting at: http://www.fda.gov/AdvisoryCommittees/Calendar/ucm191156.htm
Please feel free to contact the NNPDF Central Office staff for more information and details.
Kind Regards,
Nadine
[Dec 28, 2009 nmh]
Brianna Michele Patterson (NPC)
February 16, 2003 - December 17, 2009
 |
 |
| Brianna Patterson, (left), 2/16/03 - 12/17/09 and sister,
Bailey Patterson 8/12/00 - 3/26/07 (Both NPC) |
Brianna and "Tinkerbell" |
We have received sad news of the loss of yet another precious child to Niemann-Pick Disease Type C. Little Brianna Michele Patterson, daughter of Tara Patterson and Jeremy Patterson, both of California, passed away on December 17, at the age of 6 years. Brianna touched the hearts of so many
people with her impish grin and infectious giggles. She loved to
dress up and her favorite outfits were anything to do with princesses,
fairies and make-believe. An opportunity to meet “Tinkerbell” is a memory
that her family will always cherish.
Brianna's obituary may be read here.
All our sympathies to Brianna's family and friends at this very difficult time.
[Dec 18, 2009 mem]
 |
Holiday Gift-Giving with a Purpose |
Each year hundreds of families from around the world depend on the NNPDF for medical information, research updates and emotional support as they struggle to care for a terminally-ill child or young adult. The NNPDF, in turn, depends on those wtih compassion and the financial resources to make a difference in the lives of those who are suffering.
In this season of holiday gift-giving, we would like to offer some ideas for ways to honor your loved ones and at the same time, advance our Quest for a Cure for Niemann-Pick Disease.
Online shoppers -- You can help the NNPDF by making any Amazon.com purchases via a special link. (To benefit NNPDF, you MUST enter Amazon via the link provided here.) MissionFish and GoodSearch are two more ways to benefit NNPDF when shopping online. Visit this article for more information about both MissionFish and GoodSearch, and how to use them to benefit NPD research and family services.
2010 Calendars -- The Tyrrell family (Naomi, age 7, NPC) has designed and produced this very special 2010 wall calendar, with sales benefiting the NNPDF. The calendars make wonderful gifts for friends and family. Supplies are limited, so don't delay!
Gifts to the NNPDF are tax-deductible and a year-end gift can significantly reduce income taxes while providing meaningful support for the work of the NNPDF. As you consider your year-end tax planning, we hope you will consider making good use of the income tax deduction. Your charitable gifts make an important difference in what we are able to accomplish.
Donations may be mailed to: NNPDF, P.O. Box 310, Fort Atkinson, WI, 53538-0310
Credit card donations may be made online: Donate to the NNPDF online
Tribute Gifts: Memorials, Anniversaries, Birthday Celebrations -- please let us know if you would like a card sent to your honoree notifying them of the donation in their honor.
Matching Gifts: Employee, business and corporate matching -- we can help with the verification process and documentation
Underwriting Gifts: Support a program or service that has special meaning to you
United Way Contributions: Employee payroll deductions. Tx ID # 35-1844264
Combined Federal Campaign (CFC): Employee payroll deductions. #10121
Gifts In-Kind: Donations of products or services in support of NNPDF programs
Gifts of Stock: A transfer of stock is a strong, tax-wise contribution
Planned Giving: Bequests through wills, trusts and estate planning
Please contact us if you would like further information about any of the above avenues for donation, and thank you for your consideration and generosity to the NNPDF!
Happy Holidays!
[Dec 8, 2009 mem]
Beware Emails from "NPD Group, Inc."
Subject Line
"PART-TIME MYSTERY SHOPPER POSITION WITH GOOD WAGES"
It has come to our attention that an email from a group calling itself "NPD Group, Inc." is circulating, promising employment as a part-time mystery shopper. While it is difficult to verify whether or not the "NPD Group, Inc." is a legitimate business concern, please be advised that this email is NOT from the NNPDF, nor from the NPD Group (UK), ( the Niemann-Pick Disease organization in the United Kingdom).
For more information regarding "secret shopper" scams, please read this article from Snopes.com. http://www.snopes.com/fraud/employment/shopper.asp
[Dec 8, 2009 mem]
Karlyne Ann Jones (NPC)
August 26, 1998 - December 2, 2009
 |
| Karly Jones (NPC) |
We received the sad news of the December 2nd death of Karlyne Ann Jones, age 11, from the effects of NPC.
Karly is survived by her dad and step-mom, Brent and Brenda Jones of McMinnville, Oregon; her mother, Gina Hamrick of Newport, Oregon; twin sister, Kaitlyn Jones of McMinnville, and two sisters, Karisa Lager and Kaylina Morley of Newport; step-sister, Jessica Layman of McMinnville; brother, Kylan Adams of Newport; and step-brother, Nick Layman of McMinnville. Also, grandparents Larry and Judy Jones of McMinnville; Darrell and Vickie Hamrick of Newport; Michele DeVries of Salem; and Don and Sheryl Simpson of Deer Lodge, Montana. She is also survived by numerous aunts, uncles, and cousins.
Brenda writes: " Our precious Karly has gone to heaven and is at peace at last. She is now running and playing soccer. I'm sure she enjoyed a chocolate brownie with whipped cream as soon as she could. Karly was a very strong little girl. She always had a smile for everyone and never complained regardless of how bad things got for her. She blessed others with her strength. She loved to visit with friends and family, have sleepovers, and watch her shows. She loved going places and 'cruising'. She will truly be missed by everyone who had the pleasure of meeting her."
A Celebration of Karly's Life will be held on December 12, at 2:00 p.m., at Church on the Hill in McMinnville, Oregon. Donations may be made at Key Bank for the family, or contact the NNPDF to make a memorial donation in Karly's name.
Karly's complete obituary may be viewed at newsregister.com.
Our deepest sympathies to all Karly's family and friends in this difficult time.
[Dec 7, 2009 mem]
 |
Recent Web Site Updates |
The NNPDF is pleased that Ed Schuchman, Ph. D., has rejoined our Scientific Advisory Board. Visit our SAB page for more information about Dr. Schuchman and the expertise he brings to our SAB..
A link to a booklet on palliative care from the National Institute of Nursing Research was recently added to our Hospice, Palliative, and Respite Care page.
A raffle for a vacation at the beautiful Massanutten Resort and a Scentsy (Flameless Candle) sale are the newest fundraisers added to the Upcoming Events page.
The hotel and dates for the 2010 Family Support and Medical Conference, to be held in Toronto, were announced this week on our Family Conference page.
Be sure to check back often for more Web site updates, as we work daily to keep you up-to-date!
[Dec 4, 2009 mem]
Elizabeth M. (FitzGerald) Roberts
October 15, 1923 - November 27, 2009
 |
| Elizabeth Roberts |
Mrs. Roberts' obituary may be viewed here.
[Dec 1, 2009 mem]
Curcumin FYI Document Updated
The FYI on use of curcumin in NPC patients has been updated to reflect new research data. Please see http://www.nnpdf.org/Curcumin.html for details.
[Nov 23, 2009 mem]
MissionFish, GoodSearch and Amazon.com Benefit NNPDF
Are you an internet surfer, Amazon.com shopper, or eBay shopper or seller? MissionFish, GoodSearch and Amazon.com offer super simple ways to donate to the NNDPF when you use the internet --and just in time for your holiday shopping!
MissionFish is the partner charity of eBay. Through MissionFish, eBay users are able to donate to registered nonprofit organizations when they buy and sell on eBay.com, through a program called eBay Giving Works. In June 2008, eBay announced that its global user base, through eBay Giving Works and eBay for Charity, had raised over 150 million dollars for good causes around the world.
Look for MissionFish next time you buy on eBay, and if you are an eBay seller, please consider donating a portion of your sales through MissionFish. (Many thanks to the sellers who have already designated the NNPDF as their beneficiary!)
GoodSearch makes a donation for every internet search made through its site. Also, GoodSearch posts thousands of money-saving coupons and free shipping offers from your favorite stores! Just go to the GoodSearch site, and enter NNPDF in the field marked "Who do you GoodSearch for?" Then enter your search term(s) in the Search field, and click the Search button.
Here's a clip from ABC News Channel 30 in Fresno, CA , about GoodSearch. (Thank you to those of you who already use GoodSearch, naming NNPDF as your charity of choice!)
And Amazon.com will donate to the NNPDF if you shop via our specific Amazon.com portal. (Use the yellow "Click here" button on the Amazon.com graphic.) Please note, you MUST enter Amazon.com via this Web page for it to count toward a donation to NNPDF.
Thank you for your support of the NNPDF through GoodSearch, MissionFish, and Amazon.com, and happy holiday shopping!
[Nov 24, 2009 mem]
How many parts of the brain can YOU name?
Ty knows them all!
 |
| Ty Quandt, age 13 (NPC) |
Ever wonder about all those complex parts that make the human brain the incredible organ that it is? Well, Steven Spielberg's Pinky and the Brain cartoon, which ran on the Kids WB! tv channel for several years, makes learning all those parts fun! The Emmy-winning Animaniacs spin-off included this segment, in which the character "Brain" recites all the parts of the brain.
Next, check out this YouTube video of 13-year-old Ty Quandt, son of Karen and Gene Quandt, having fun with it! Ty sings the parts of the brain
Way to go, Ty!
[Nov 19, 2009 mem]
U.S. Food and Drug Administration Grants Priority Review for Zavesca
Committee Discussion Scheduled for January 12, 2010
A press release issued by Actelion Ltd, makers of Zavesca (miglustat), announced that a supplemental new drug application for an extension of indication for Zavesca for the treatment of progressive neurological manifestations in NPC has been accepted by the U.S. Food and Drug Administration (FDA).
Further, the FDA has granted Zavesca a priority review designation, given to drugs that offer major advances in treatment or provide a treatment where no adequate therapy exists. It also means that the FDA will aim to complete the review within six months. Read the full press release here.
On January 12, 2010, the FDA's Endocrinologic and Metabolic Drugs Advisory Committee will discuss new drug application (NDA) 21–348, ZAVESCA (miglustat), 100 milligram (mg) capsules, by Actelion Pharmaceuticals, Ltd., proposed for the treatment of progressive neurological manifestations (symptoms related to the nervous system) in patients with Niemann-Pick Disease (type C). Read more, including how you can submit a written statement or make an oral presentation to the committee, here: http://www.fda.gov/AdvisoryCommittees/Calendar/ucm191156.htm
[Dec 1, 2009 mem]
Press Releases Create Awareness of Niemann-Pick Disease
Let Us Help You Raise Awareness in Your Community
The First International Meeting of Niemann-Pick Disease Non-Profit Organizations was held recently in Scotland. This meeting marked an important step forward in worldwide collaboration in the fight against Niemann-Pick Disease. As a follow-up to this meeting, the NNPDF issued press releases to help raise awareness of NPD and to highlight this important global alliance. Click here to read the press release sent out to the media outlets in Board Chair Barb Vorpahl's area. Press releases help create public awareness of Niemann-Pick Disease. Awareness is essential to fundraising, and funding is essential for accelerating research into treatments and a cure. We can tailor a press release for use in your community, as well. |
|
 Karen (NNPDF Board Vice Chair) and Gene Quandt in Scotland for the First International Meeting of NPD Non-Profit Organizations |
Click here to read the version of the press release sent to the media in Karen and Gene Quandt's area. We can customize this press release or create another to help promote your fundraising event, or just to raise awareness of NPD in your community. The recent International Meeting of NPD Non-Profit Organizations provides a springboard and an opportunity to let your community know about this rare disease, and to let community members know that there is someone nearby who is coping with the challenges of NPD. Press releases help create public awareness of Niemann-Pick Disease, which in turn helps advance our Quest for a Cure. Please contact the NNPDF for assistance with a press release in your community, or just complete and submit this form with your information, and we will get started on your press release today! |
[Nov 19, 2009 mem]
NNPDF Family Directory Update in Progress
Is Your Family's Contact Information Up-to-Date?
Dear Members of the National Niemann-Pick Disease Foundation,
We are working on updating our NNPDF Family Directory. The information in the NNPDF Family Directory is published with the permission of those included, and is strictly confidential. The NNPDF stringently protects your privacy and does NOT make any information contained within the directory available to any outside source. The directory is distributed ONLY to NNPDF member families.
The NNPDF Family Directory’s purpose is to facilitate a network of support between families affected by Niemann-Pick Disease. Our families have found that relationships with others who know firsthand the issues surrounding Niemann-Pick Disease to be a great source of information and comfort.
We are asking all member families to update their family’s contact information so we can be certain the Family Directory is as accurate as possible. The directory will be mailed out as soon as it is printed, with a target of mid-January 2010.
If you have had a change in email address, telephone number, mailing address, or family names since the last directory was published (spring 2008), please be certain to let us know as soon as possible. You may complete and return the NNPDF Membership Form, or you can simply email the NNPDF with the updated information.
Thank you in advance for your assistance in this matter!
[Nov 18, 2009 mem]
"Cyclodextrin overcomes deficient lysosome-to-endoplasmic reticulum transport
of cholesterol in Niemann-Pick type C cells."
New Paper's Abstract Now Available
Research from the lab of Drs. Michael Brown and Joseph Goldstein regarding cyclodextrin was published online recently in The Proceedings of the National Academy of Science.
For more information and to read the abstract, please visit our Latest Research page.
[Nov 16, 2009 mem]
"Psychosocial Aspects of Patients with Niemann-Pick Disease, Type B"
New Article by Dr. Wendy Packman, et al.
A new research article titled, "Psychosocial Aspects of Patients with Niemann-Pick Disease, Type B," was published recently in the online American Journal of Medical Genetics. The article is by Dr. Wendy Packman and colleagues.
For more information, including the abstract, please click here.
[Nov 16, 2009 mem]
Alexandria T. Bexton (NPC)
April 22, 1999 - November 11, 2009
 |
Alexandria T. Bexton (NPC) |
Alexandria T. Bexton, ten-year-old daughter of Michael and Stasha Bexton of Flint, Michigan, passed away November 11, from the effects of Niemann-Pick Disease Type C.
Funeral services will be held at 11:00 a.m. Monday, November 16, at Faith Missionary Church, 1327 North Elms Road, Flint, with Reverend Tom Knight officiating. The visitation will be from 5:00 - 8:00 p.m. Saturday, and 1:00 - 8:00 p.m. Sunday at the Swartz Funeral Home, 1225 West Hill Road, and at the church from 10:00 a.m. Monday until the time of the service.
Alexandria loved attending school at Marion Krause Instructional Center, and meeting and spending time with people. She enjoyed her dogs, being outside and her family.
Surviving are parents, Michael and Stasha Bexton; two sisters, Kaitlyn and Samantha; grandparents, Mark and Sherry Guenther of Flushing, Mary and Jim Bostic of Flint Township, Michael and Deborah Boswell of Crystal River, Florida; great-grandparents, Art and Florence Taylor of Lennon and William Guenther of Flint, Mark and Irene Bexton of Flint Township, Sandra Boswell of Crystal River, Florida; and many aunts, uncles and cousins.
All our sympathy goes out to Alexandria's family at this very sad and difficult time.
[Nov 12, 2009 mem]
Joele Jean Ruppert (NPA/B)
August 12, 2005 - November 8, 2009
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Joele Jean Ruppert (NPA/B) |
It is with great sadness that we report that Joele Ruppert, Niemann-Pick Type A/B, died on November 8. Joele was the 4-year-old daughter of Jeff and Kara Ruppert of Santa Barbara, California.
[Nov 11, 2009 mem]
2010 Wall Calendar to benefit NNPDF |
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$10 each plus shipping
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Calendars are ready for holiday gift-giving and make a wonderful way to show your appreciation to family, friends, and volunteers who have helped or shown support through the year. Welcome in the new year with these darling puppies! Click here for more details, or go directly to the order form. |
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[Nov 10, 2009 mem]
Gene Therapy Technique Slows Brain Disease ALD Featured In Movie 'Lorenzo's Oil'
Parents of children who have NPC are wondering if a new gene therapy technique might be useful in combating the disease affecting their children. Details of the therapy can be found at:
http://www.sciencedaily.com/releases/2009/11/091105143706.htm
And http://sciencenow.sciencemag.org/cgi/content/full/2009/1105/1
We do not currently have scientists working on this for NPC, but Dr. Marie Vanier, who is on the NNPDF Scientific Advisory Board, was collaborating with the group that published the article about adrenoleukodystrophy (ALD). Karen Quandt, Vice-Chair of the NNDPF Board, asked Dr. Vanier about the studies and whether this technique can be applied to NPC. Dr. Vanier’s response was as follows:
“Unfortunately the procedure described for adrenoleukodystrophy (ALD) is NOT applicable to NPC1 patients, because this strategy has a chance to work only in diseases where bone marrow or cord blood transplantation has proven efficient. In ALD, bone marrow transplantation (BMT) has been shown quite efficient, provided it is done early enough. The big advance in the trial has been to use the patient's own cells, after correction by gene therapy. In NPC1 we know that bone marrow transplantation (BMT) has no effect on the neurological disease.
Note that BMT has some chances to work in NPC2, although it is still too early to conclude in the one patient who survived the transplantation procedure.”
[Nov 9, 2009 mem]
H1N1 and Seasonal Flu Information and Resources
We have received a number of calls about the advisability of vaccinating NPD patients against the H1N1 virus that causes “swine flu.” To help respond to questions you may have, we developed a Web page with links to various official publications about the virus and the vaccination, and information from Dr. Patterson and Dr. Wasserstein regarding vaccination for H1N1.
Please check out the many resources on our H1N1 and Seasonal Flu Information page and the information sheet provided to you by your pediatrician, family practitioner, internist or clinic where vaccinations are being administered.
Please discuss any concerns you might have with your primary or specialty care physician who is most familiar with your own or your family member’s medical condition.
[Nov 4, 2009 mem]
NHGRI Launches Improved Online Talking Glossary of Genetic Terms
The National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, announced the launch of the next generation of its online Talking Glossary of Genetic Terms.
The glossary contains several new features, including more than 100 colorful illustrations and more than two dozen 3-D animations that allow the user to see genetic concepts in action at the cellular level. The glossary "talks" because users can actually hear an audio pronunciation of each term, and also listen to an audio explanation from scientists who provide context and other supplementary information.
The updated glossary provides a reliable resource for more than 200 terms and basic concepts behind today’s breakthroughs in genetics and genomics. The glossary is available at www.genome.gov/glossary.
[Oct 30, 2009 mem]
Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Clinical Trials
Enzyme Replacement Therapy Clinical Trial (Type B)
With Phase 1 completed, we recently received this update from Genzyme regarding the Enzyme Replacement Therapy Clinical Trial for ASMD (Type B). Also, read the message from Dr. Margaret McGovern regarding the conclusion of Phase 1, and view the poster she and her team presented at the International Congress for Inborn Errors of Metabolism and at the American Society of Human Genetics Meeting. (Read the abstract here.)
[Oct 29, 2009 mem]
*In the News*
Niemann-Pick Disease on the Radio
NNPDF Board Chair Barbara Vorpahl and Director of Family Services Nadine Hill appeared on WFAW Radio's Morning Magazine program to talk about October NPD Awareness Month activities (including the Wisconsin Governor's proclamation of Awareness Month), the NNPDF's online auction fundraiser, and the first international meeting of non-profit NPD organizations held recently in Scotland.
To hear the program, visit the WFAW Radio Web site, and scroll down to the Morning Magazine link for Wednesday, October 21st. Click "Play," and then advance the slider to about halfway, as Barb and Nadine appeared on the second half of the hour-long program.
[Oct 22, 2009 mem]
*In the News*
Stults Family Featured in The Pointe Newspaper
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| Brisan Stults (NPC) | Parker Stults (NPC) |
The Mike and Jennifer Stults family of Grain Valley, Missouri, was featured recently in their local newspaper. The article, "Strength of family endures despite nearly insurmountable odds," appeared in the The Pointe on October 6, focusing on the Stults' sons' battle against Niemann-Pick Disease Type C. Brisan and Parker, ages 5 and 3, respectively, were diagnosed with NPC a little more than a year ago.
Click the link above, or here to read the story.
[Oct 21, 2009 mem]
Dr. Patterson's Grand Rounds in Seattle
Video Posted
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| Marc C. Patterson, M.D. |
While in Seattle this past summer for the NNPDF Family Support and Medical Conference, Dr. Marc Patterson of Mayo Clinic was invited to present "Grand Rounds" at Children's Hospital, on the topic of Niemann-Pick Disease Type C. (Grand Rounds is a formal educational meeting at which physicians discuss the clinical case of one or more patients.)
Children's Hospital has posted a video of Dr. Patterson' presentation including his PowerPoint slides. Click here to view the video.
[Oct 19, 2009 mem]
"Compassionate Use"
Access to Investigational Drugs
FYI Article and NORD/FDA Podcast Now Available
The term "compassionate use" refers to the treatment of a seriously ill patient using a new, unapproved drug when no other treatments are available. Drugs that are being scientifically tested but have not yet been approved by the United States Food and Drug Administration (FDA) are called investigational drugs. Being able to use one of these drugs when you are not in a clinical trial specifically designed to study that drug has many names, but is most commonly referred to as compassionate use.
Given the recent discussions about access to cyclodextrin, we thought you might like to read more about compassionate access to drugs. Cate Walsh Vockley, the NNPDF's Coordinator of Education, Referral and Advocacy, has prepared an FYI article about compassionate use, including links to additional resources. You can read the FYI article posted here .
Also, the National Organization for Rare Disorders (NORD) and the FDA hosted a one-hour podcast on Oct. 16 on the FDA's new rules regarding patient access to investigational drugs. Visit the NORD Web site to listen to the podcast and to read the FDA's new rules.
[Oct 20, 2009 mem]
Leonard K. Whitehead
March 11, 1987 - September 5, 2009
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Leonard was born March 11, 1987, the son of Leonard and Peggy Whitehead. He was a member of the St. Joseph Catholic Church in Bonne Terre.
Leonard was preceded in death by his brother, Robert Whitehead (NPC); grandparents, Louis and Theresa Whitehead; and grandfather, Glenn Young. Leonard is survived by his parents, and brothers and sisters, James, Melissa, William, Stephen, Brian, Michael and Phillip Whitehead; and grandmother, Judith Young.
Our deepest sympathies go to the Whitehead family at this difficult time.
[Oct. 15, 2009 mem]
Proposed Legislation Would Protect Healthcare Coverage
for Rare Disease Clinical Trial Participants
Legislation currently under consideration by the U.S. Senate would allow patients with rare diseases to participate in clinical drug studies without losing their eligibility for public healthcare coverage.
Researchers often struggle to recruit participants for clinical trials because of limited patient populations. Current law prevents many people who receive Supplemental Security Income (SSI) from accepting research compensation because it would make them ineligible to continue receiving government medical benefits. This financial penalty prevents significant numbers of people with rare diseases from participating in clinical studies.
The "Improving Access to Clinical Trials Act" would remove financial penalties for participating in research studies. This legislation is supported by over 100 patient support and advocacy groups, including the NNPDF. You can track the bill and see the current list of co-sponsors here.
Please consider contacting your representatives and senators to show your support for this bill. Telephone numbers, email addresses and postal addresses are available here. If they have already signed on in support, be sure to thank them on behalf of the 30 million Americans affected by one of the nearly 7000 known rare and genetic conditions.
Click here to read more about the bill.
[Oct 14, 2009 mem]
FYI: Issues Regarding Curcumin Therapy in Niemann-Pick Disease, Type C Patients
Use of various supplements in NPD patients is routinely discussed by families and is a challenging issue. There is often little data on the use of supplements in children and teens, or even in adults, for that matter. There is also limited data on reasonable dosing and potential side effects.
One such supplement, curcumin, has been discussed over the last few months on the NNPDF list serv. There have also been concerns raised in the scientific community that higher doses of this compound are not as effective as lower doses, and in fact, may be toxic rather than being helpful to patients.
Although there is no current data on the use of curcumin in NPC patients, click here for a summary of the limited data on the use of curcumin. This information is not intended to be a medical directive or endorsement of the use of any product, but rather is for use by families as they consider the issue of curcumin supplementation for their affected family member.
[Oct 14, 2009 mem]
Rogers Family's Experience with Hospice
Covered by Keloland TV News
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| Tristian Norton Rogers (NPA) 4/3/08 - 9/21/09 |
[Oct 13, 2009 mem]
U.S. and European Rare Disease Organizations Sign Strategic Alliance
The leading advocacy groups for those with rare diseases in the U.S. and Europe have signed a Memorandum of Understanding to join forces on several key strategic initiatives on behalf of rare disease patients and their families. The National Organization for Rare Disorders (NORD) and the European Organization for Rare Diseases (EURORDIS) announced this alliance with an "...intent to increase global awareness, promote research and the development of new treatments, and provide advocacy for more compassionate public policies."
Read the full press release here.
[Oct 7, 2009 mem]
October is National Niemann-Pick Disease Awareness Month!
Raising Awareness and Funding for Research
October has begun, the month designated as National Niemann-Pick Disease Awareness Month. This is the time when we make an extra push to educate the public, extended family and friends about Niemann-Pick Disease, the devastation it causes families, and the need for essential research.
For October 2009, the 8th Annual Niemann-Pick Disease Awareness Month, we are pulling out all the stops to raise awareness and funding which is so critically needed to ensure that one day, NPD will no longer be such a dire diagnosis. Check out the October Awareness page and the Current Fundraising Events page to see all that families around the country (and in Canada!) are doing to raise awareness and funds.
Here at the NNPDF office we have been busy supporting these families in their efforts, and we would like to encourage everyone to consider doing something in their local community to raise awareness. This can be as simple as sending a press release (which we can help you write or edit), or asking your local city officials to proclaim October as NPD Awareness Month (we have samples and can help you do this, as well). If you are more ambitious, it's not too late to launch a fundraising event. Check out the pages linked above for some great ideas, from the most simple to the more complex.
Watch your mailbox -- you should be receiving, if you haven't already, a letter from our office regarding the Lorna and Leon Tyrrell family and their inspirational "Perseverence" in the face of daughter Naomi's NPC. We have extra copies of the mailing -- if you have family or friends who are not already on our mailing list, we can send them a copy if you wish -- just contact us.
Thank you for all you are doing this month, and all year through, to help us raise awareness and funds for our all-important Quest for a Cure!
[Oct 6, 2009 mem]
NNPDF Representatives to Attend First International Meeting of
Niemann-Pick Disease Non-Profit Organizations
The First International Meeting of Niemann-Pick Non-Profit Organizations is being held October 8 - 11, in Scotland. This meeting has been jointly organized and sponsored by the NNPDF and the NPDG(UK). The purpose of this International Meeting is to enhance communication and representation among the organizations supporting those with NPD around the world. It is about exploring ways to share information and help speed up progress in care and in the understanding of Niemann-Pick Disease.
Collaboration will help maximize efforts and avoid duplication of work, in good stewardship of hard-earned resources. This International Meeting marks an important step in global collaboration and cooperation in the fight against NPD.
The NNPDF and CC-NNPDF will be represented by: Barb Vorpahl, NNPDF Board Chair; Karen Quandt, NNPDF Vice Chair; Tammy Vaughan, NNPDF Secretary and CC-NNPDF Chair; Lucy Liegghio, CC-NNPDF Vice Chair; and Nadine Hill, NNPDF Director of Family Services.
We are grateful for the generous support of educational grants from Actelion Pharmaceuticals and Genzyme Corporation.
[Oct 6, 2009 mem]
NIH Announces Funding of Rare Diseases Clinical Research Network
The National Institutes of Health (NIH) has formally announced the funding of the Rare Diseases Clinical Research Network, with 19 research consortia receiving support. Niemann-Pick Disease has the distinction of being the only group of diseases represented in two of the funded consortia: the Lysosmal Disease Network and the Sterol and Isoprenoid Diseases Consortium.
A press release detailing the announcement can be found at http://www.nih.gov/news/health/oct2009/od-05.htm.
Funding coming from the two Networks will support:
1. Dr. Marc Patterson's study of neuro-cognitive changes as possible early markers of NPC
2. Dr. Porter's work
a. to identify clinical and biochemical markers that can be used as outcome measures in clinical trials
b. to continue the natural history study
c. to develop better tools for diagnosing NPC
The NNPDF is recognized as a patient advocacy group affiliated with both of these consortia, and NNPDF staff will be involved in ongoing discussions of the research and plans for future work. In addition, I will serve as the Patient Advocacy Group representative on the Steering Committee for the Sterol grant and will be interacting with the 18 other advocacy group representatives.
At a meeting last Thursday and Friday in Bethesda, it was very gratifying to see how much the NIH has recognized the importance of involvement of the advocacy and support groups in moving the work of these consortia forward. Families do have a voice in these proceedings!
Congratulations to all the researchers for this recognition of their excellence!
Regards,
Cate
Cate Walsh Vockley, MS, CGC
Coordinator of Education, Referral and Advocacy
NNPDF
[Oct 6, 2009 mem]
NNPDF Annual Meeting Scheduled
Jan. 29 - Jan. 31, 2010
The 2010 Annual NNPDF Board Meeting will be held the weekend of January 29th - 31st, in Milwaukee, Wisconsin. The Foundation's annual board meeting is open to all members of the NNPDF. Please contact the NNPDF Central Office if you would like more information pertaining to the annual meeting.
[Sept 28, 2009 mem]
NNPDF Nationwide Online Auction Fundraiser
Bid from October 1st - 31st
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In conjunction with October Niemann-Pick Disease Awareness Month, the NNPDF is sponsoring its first nationwide online auction. Items already listed include trips, gift certificates, sports memorabilia, and more. Items will be added to the auction list as donations are received. Families are being asked to donate items to the auction and to promote the auction to friends and relatives. The more items we have and the more bidders we can attract, the more money we can raise to support research and family support services. |
Please visit this page for more details about the auction and/or making a donation. View auction items and place bids
by visiting www.nnpdf.cmarket.com .
[Sept 24, 2009 mem]
Tristian Allen Norton-Rogers
April 3, 2008 - September 21, 2009
Tristian Allen Norton-Rogers, 17-month-old son of James and Sheila Rogers of Salem, South Dakota, passed away September 21st from the effects of Niemann-Pick Disease Type A.
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Tristian Allen Norton-Rogers (NPA) |
Tristian, known affectionately as "Bubba," loved having people talk and read to him, and going for walks and to the zoo. He enjoyed being outdoors and watching the trees move in the wind. He especially loved to talk to his daddy on the phone. Survivors include: his parents of Salem; brothers, Blaze Keller, Corsica and Christian Rogers, Jamestown, ND; and sisters, Jordan Keller, Salem, Harley Handrahan, Omaha, NE, Cherish Rogers, Salem, and Montana Rogers, Jamestown, ND.
All our love and sympathy go out to the Rogers family in this very sad time.
[Sept 25, 2009 mem]
Enzyme Replacement Therapy Clinical Trial (Type B)
Phase 1 Concluded
Results from Phase 1 of the Enzyme Replacement Therapy Clinical Trial (Type B) will be presented at the American Society of Human Genetics Meeting in October. Read the message from Dr. Margaret McGovern regarding the conclusion of Phase 1, and view the poster she and her team presented at the International Congress for Inborn Errors of Metabolism.
[Sept 14, 2009 mem]
2010 NNPDF Family Support and Medical Conference to be held in Toronto, Canada
Hello NNPDF Families and Friends,
It is official ~ the 18th Annual NNPDF Family Support and Medical Conference
to be hosted by our good friends to the north,
the Canadian Chapter of the
NNPDF, will be held in the beautiful city of Toronto, Ontario, Canada.
To see and learn more about all that this wonderful destination has to
offer, please visit the "See Toronto Now" web site:
http://www.seetorontonow.com/
The families of Tammy & Alan Vaughan and Lucy & Enio Liegghio, of the CC ~ NNPDF, have graciously stepped forward
to co-host this event in memory of
their precious children: Alex Vaughan (NPC ~ 04/18/88-12/23/92), Laura
Vaughan (NPC ~ 1/16/95-11/8/01), and Luke Liegghio (NPC ~ 5/5/97-6/10/05).
The Vaughans & Liegghios will work hand-in-hand with the Family Conference Committee of the NNPDF to develop a
meeting that will best meet the interests and needs of our family membership. The planning for this event
has begun in
earnest and we will forward information on a firm date and location announcement for the conference as soon as possible.
For those who like to get their family calendars in line early on ~ please
pencil in late July 2010 and/or early August 2010
as the most likely date options for this event.
We wanted to share the excitement over this Family Conference location site choice with all of our families and members
so that you too can join in the fun and begin planning your family trip for next summer!
In the interim, you may wish to visit our NNPDF Web site to view updates
from the wonderfully successful 2009 17th Annual NNPDF Family Support and
Medical Conference which was just held in Seattle, Washington, hosted by
the family of Karen & Gene Quandt, in honor of their son, Ty (Age 12, NPC). http://www.nnpdf.org/familyservices_03.html
This link includes two fun slide-show recaps and a link to the memorial video from this event. We are also working on
fine-tuning speaker recaps summaries and PowerPoint presentations so that we can post this information
for all of our members who weren't able to travel to Seattle and attend the conference in person.
Great thanks go out to the families who continue to step-up and assist the foundation with the planning of the annual
conferences ~ it is so greatly
appreciated.
Kind Regards,
Nadine
[Sept 10, 2009 mem]
Seasonal Flu and H1N1 Flu Information
Seasonal flu and the H1N1 flu are top-of-mind concerns for most everyone right now, especially families with members whose health may already be compromised by chronic illness.
Please visit our flu resources page for information about protecting your family from the flu, and for coping with it should a member of your family contract the flu despite taking precautions.
[Sept 10, 2009 mem]
Dillon Papier Celebrates 7th Birthday with the Baltimore Orioles
Benefit for NNPDF
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| Brian Roberts and Dillon Papier (NPC) |
Dillon Papier and a flock of family and friends attended the Baltimore Orioles game on Sunday, August 30, in celebration of Dillon's 7th birthday, and to raise funds in support of the NNPDF. Dillon loves baseball, so hanging out in the Orioles dugout with his pal, second baseman Brian Roberts, was no doubt his idea of a perfect day!
TV coverage of the game included this interview with Mark Papier, Dillon's dad.
Happy 7th birthday, Dillon!
[Sept 3, 2009 mem]
Free Online Seminar for Doctors and Clinicians
Diagnosis, Management & Treatment of Progressive Neurological Disease from Infancy to Adult
using Tay-Sachs Disease as a Model
Monday, September 21, 2009
1:00 - 5:00 p.m.
Susan Green, NNPDF Research Committee Chair, is pleased to forward information about this opportunity for neurologists, general practitioners, pediatricians, palliative and complex care pediatricians and physicians, psychologists, physical, occupational and speech therapists, nurses and others interested in improving differential diagnosis, clinical care and understanding of the family perspective.
NNPDF member families are invited to forward information about this free educational opportunity to their healthcare professionals and to encourage their participation.
The National Tay-Sachs & Allied Diseases Association and Brigham & Women’s Hospital are delighted to present a free seminar in Boston, also to be presented free online, for doctors & other clinicians to improve their diagnosis, management & treatment of progressive neurological disorders. The seminar will use Tay-Sachs as a teaching model from infancy to adult, which will conveniently also educate attendees about Tay-Sachs and related diseases.
The seminar will improve clinicians’ understanding of the family perspective, clinical care and diagnostic skills as well as provide CME credits. For more information including a list of presenters and the schedule, see the program brochure.
The in-person seminar will be held at Joseph B. Martin Conference Center at Harvard Medical School, 77 Avenue Louis Pasteur, Boston. Online participants should follow the link on www.ntsad.org on September 21st, at 1:00 pm. Advance registration is appreciated, but not required.
For further information, contact the NTSAD at Kim@ntsad.org or 800-906-8723, or visit www.ntsad.org.
[Aug 27, 2009 mem]
New Resource Available from NNPDF
Dementia Booklet
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Dementia is something usually associated with older people. However, children, teenagers and young adults can experience dementia as a result of a number of rare diseases and conditions. Niemann-Pick Disease Type C (NPC) is an example of one of these diseases, and one of its main symptoms is dementia. The NNPDF now has available a booklet for families, teachers and caregivers, explaining how dementia may be exhibited in the Niemann-Pick Disease patient, and offering practical tips for |
Contact the NNPDF if you would like to receive a copy of the booklet by mail.
[Aug 27, 2009 mem]
Dr. Peter G. Pentchev Honored at 2009 NNPDF Family Support and Medical Conference
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Peter G. Pentchev, Ph.D. |
In her presentation, NNPDF Board Chair Barb Vorpahl stated,
"Peter encouraged the families ... to take an active stance against this disease -- to become organized and start a foundation. So you might say he is the father of the NNPDF. He has guided us through the years, shared in our hopes and joys, and grieved deeply with our family and every family when yet another life was lost to this disease.
Peter was the force behind finding the gene for NPC in 1997…unlocking the key and pushing the door wide open in our understanding of this disease ….leading us to where we are today with promising therapies."
For more, click here.
Thank you for your dedication and support, Dr. Pentchev!
[Aug 19, 2009 mem]
Zavesca Officially Launched in United Kingdom
On July 21, 2009, Actelion Ltd. announced the launch of Zavesca® (miglustat) in the UK and Republic of Ireland; the first and only licensed treatment available for people with Niemann-Pick type C (NP-C) disease.
Ed Wraith, M.D., Royal Manchester Children's Hospital, commented: "For the first time we have an approved therapy for NP-C. The data on the effects of treatment with Zavesca® obtained in a clinical trial and in a retrospective cohort study consistently showed a favorable clinical response. As a treating physician I am acutely aware of the importance of reducing progression of neurological symptoms."
Zavesca®, which was granted orphan drug status allowing for a faster approval process, is now approved in all EU countries for the treatment of patients with NP-C and is available in all the EU countries according to the local reimbursement process. Regulatory proceedings to extend the use of Zavesca® in patients with NP-C are ongoing in other countries worldwide.
Click here to read the complete press release.
[Aug 19, 2009 mem]
U.S. Department of Health and Human Services Announces Confirmation of
Francis Collins as Director of the National Institutes of Health
Health and Human Services Secretary Kathleen Sebelius announced August 7th that the United States
Senate unanimously confirmed Dr. Francis Collins as the next Director of
the National Institutes of Health.
"Dr. Collins is one of our generation's great scientific leaders. A
physician and geneticist, Dr. Collins served as Director of the National
Human Genome Research Institute, where he led the Human Genome Project
to completion," said Secretary Sebelius. "Dr. Collins will be an
outstanding leader. Today is an exciting day for NIH and for science in
this country."
Bio for Francis S. Collins:
Francis S. Collins, M.D., Ph.D., a physician-geneticist noted for his
landmark discoveries of disease genes and his leadership of the Human
Genome Project, served as Director of the National Human Genome Research
Institute (NHGRI) at the National Institutes of Health from 1993-2008.
With Dr. Collins at the helm, the Human Genome Project consistently met
projected milestones ahead of schedule and under budget. This
remarkable international project culminated in April 2003 with the
completion of a finished sequence of the human DNA instruction book.
In
addition to his achievements as the NHGRI Director, Dr. Collins' own
research laboratory has discovered a number of important genes,
including those responsible for cystic fibrosis, neurofibromatosis,
Huntington's disease, a familial endocrine cancer syndrome, and most
recently, genes for adult onset (type 2) diabetes and the gene that
causes Hutchinson-Gilford progeria syndrome.
Dr. Collins has a longstanding interest in the interface between science and faith, and has written about this in The Language of God: A Scientist Presents Evidence for Belief (Free Press, 2006), which spent many weeks on the New York Times bestseller list. He has just completed a new book on personalized medicine, The Language of Life: DNA and the Revolution in Personalized Medicine (HarperCollins, to be published in early 2010).
Dr. Collins received a B.S. in Chemistry from the University of
Virginia, a Ph.D. in Physical Chemistry from Yale University, and an
M.D. with Honors from the University of North Carolina. Prior to coming
to NIH in 1993, he spent nine years on the faculty of the University of
Michigan, where he was an investigator of the Howard Hughes Medical
Institute. He has been elected to the Institute of Medicine and the
National Academy of Sciences and was awarded the Presidential Medal of
Freedom in November 2007.
[Aug 10, 2009 mem]
"It's Raining Hope in Seattle"
2009 Family Support and Medical Conference is a "Wrap"
The 2009 NNPDF Family Support and Medical Conference was held in Seattle, Washington, from Thursday, July 30, through Sunday, August 2. Families in attendance heard from researchers, doctors, therapists, inspirational speakers, and more, and were able to share hugs, tears, laughs and experiences with one other. Old friendships were rekindled and new friends were found. As you can see from the smiles on attendees' faces, the conference was a great experience and well worthwhile!
Many, many thanks go to Karen and Gene Quandt, and their host of friends, family, and supporters, who volunteered and helped make the conference a resounding success!
For a slideshow and more photos from the conference, click here.
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[Aug 6, 2009 mem]
California State Budget Cuts Threaten Availability of Care
Jessica Leoni and Family Featured in CNN Coverage
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Jessica Leoni |
Messages of support may be directed to the Leoni family via their Caring Bridge site.
[Aug 5, 2009 mem]
NPC Clinical Trial Opportunity
Message from Dr. Forbes "Denny" Porter, National Institutes of Health
The NNPDF has received an update from Dr. Denny Porter at the National Institutes of Health regarding an upcoming NPC Clinical Trial opportunity. Please click here to read Dr. Porter's message.
We encourage anyone with questions about the study to contact Nicole Yanjanin at Dr. Porter’s office: 1-301-594-1765; nyanjanin@nih.gov.
Dr. Porter plans to present more details related to this trial at our upcoming NNPDF Family Support and Medical Conference in Seattle, Washington, July 30 - Aug. 2. Please contact the NNPDF Central Office if you need assistance registering or finalizing your travel plans for the NNPDF Family Conference.
[July 9, 2009 mem]
In the News
Updates on OrphaNews
Newsletter of the Rare Diseases Task Force
Visit OrphaNews Europe to read the following updates:
National and International Policy Developments: A Canadian province adopts rare disease drug evaluation programme.
Ethical, Legal and Social Issues: An international expert group reiterates the need to adhere to guidelines for stem cell clinical applications.
[July 13, 2009 mem]
Papers Published in Cell Metabolism Journal
Dr. Heiko Runz of the University Clinic - Heidelberg (Germany), has a paper titled "Identification of Cholesterol-Regulating Genes by Targeted RNAi Screening" published in the July 2009 issue of Cell Metabolism.
Read the announcement here: http://www.eurekalert.org/pub_releases/2009-07/embl-sic070609.php
The full text of the paper is available here: http://www.cell.com/cell-metabolism/fulltext/S1550-4131(09)00157-0
This research was funded in part by the Ara Parseghian Medical Research Foundation.
In the same issue of Cell Metabolism is an article by Drs. Munkacsi, Pentchev and Sturley:
Spreading the Wealth: Niemann-Pick Type C Proteins Bind and Transport Cholesterol
[July 13, 2009 mem]
In the News
Judy Desouza Named to Cambridge Who's Who
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Judy Desouza |
Judith Desouza, Distribution Planner for BIC Consumer Products USA, has been recognized by Cambridge Who's Who for showing dedication, leadership and excellence in all aspects of her career. Judy is an active member of the NNPDF and the mother of Bryanna Desouza (1992 - 2006) (NPC).
To read more about it, visit Cambridge Who's Who.
Congratulations, Judy!
[July 7, 2009 mem]
Bridal Couple Honors Memory of Bride's Brothers
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Stephanie and Andrew Brown |
In lieu of wedding favors for their guests, this couple made a donation to the NNPDF in memory of the bride's brothers, Jeffery and Zachary Yates, both lost to Niemann-Pick Disease Type C.
For more details about this thoughtful donation, visit our Recent Events page, where you can see the many ways families across the country are raising awareness of Niemann-Pick Disease and funds for research into treatments and a cure for NPD.
[June 26, 2009 mem]
In the News
Two families affected by Niemann-Pick Disease have been in their local news lately, raising awareness and funds in the fight against NPD.
The Ryan Richardson Memorial American Legion Post 75 Poker Run will be held Saturday, June 27, in Crestview, Florida. Click here for a Crestview News Bulletin story by Kyle Wright about this event to raise funds in support of the NNPDF.
The Sanda family's fight against NPD was covered by the Merced Sun-Star in this article by Corinne Reilly.
[June 25, 2009 mem]
Considering Participating in a Research Study or Experimental Therapy?
Research Studies -- Occasionally, NNPDF member families are approached for participation in a research study. Although opportunities for such participation may, from time to time, be posted by NNPDF Staff on the listserv or Web site, the NNPDF will only recommend to its members a research study that has been reviewed by the NNPDF Research Committee and Scientific Advisory Board. This group of individuals works diligently to ensure that research studies are conducted in a way that provides you, the family affected by Niemann-Pick Disease, with all of the protections required by law.
We understand that not everyone will participate in all studies, but we certainly encourage you to consider the possibilities, gather information and make decisions that are right for you and your family. The NNPDF will never release the names or contact information of members to researchers or other groups.
As always, the NNPDF Staff is available to help if you have questions about any aspect of the services provided to the membership. This includes information about research studies that are offered. Please feel free to contact us at any time with questions and comments. We are here for you!
Experimental Therapies -- Our Web site has resources that may be helpful if you are considering trying experimental therapies or alternative approaches to treatment of your child(ren). These resources are designed to assist you in thinking about both the risks and benefits of interventions that are experimental in nature. Please visit this page to learn more.
[June 23, 2009 mem]
NNPDF Summer 2009 Newsletter
Coming to a Mailbox Near You!
The NNPDF 2009 Summer Newsletter is hot off the presses, ready to update you on the Foundation's Family Services Program, Research Program, Family Support and Medical Conference, etc. Watch your mail in the near future for your copy.
If you are not currently receiving the NNPDF newsletter and would like to join the mailing list, please contact us with your mailing details.
Want a sneak peek? Look here.
[June 19, 2009 mem]
Israel Lujan Macareno
08/22/98 ~ 06/09/09
We received word today that young Israel Lujan Macareno of New Jersey lost his brave battle with Niemann-Pick Disease Type C. There is no greater heartache than the loss of a child. All the members of the foundation send along our deepest sympathies to his family and loved ones.
Our hearts are breaking with you as you gather to remember this wonderful young boy.
[June 12, 2009 ~ nmh]
Bowie Baysox Event In the News
The Mark and Darrile Papier family recently hosted "Dillon Papier Baseball Day" with their local hometown Bowie Baysox baseball team in honor and support of their son, Dillon (age 6 ~ NPC). The event raised funds for the fight against Niemann-Pick Disease, and marks the fourth year that the team has participated in the fundraiser.
The sports editor from the Bowie Blade-News, Jake Linger, attended the event and wrote two follow-up articles. The first is titled, "Fourth Annual Dillon Papier Day in Bowie," and highlights the background of the event, the Papier family and how they became involved with this fundraiser.
The second article, an editorial, challenges the community and citizens of the Bowie area to "step up to the plate" and make an effort to have a bigger impact on this young boy's life, and to join with his family as they fight to raise awareness and funds into a cure for NPD. Mr. Linger voices his perspective on how he feels we should look at rare diseases and his challenge should act as a beacon of hope for all the families of the NNPDF.
Mr. Linger noted, "Dillon Papier Day is also a way to educate Baysox fans on Niemann-Pick. The disease afflicts only 500 people worldwide and Dillon is one of them. It's sad. Granted, this is sad. But if this disease afflicts just 500 people on the globe, why worry about awareness? Let's see, cancer at one time only affected 500 people on Earth. I'm sure the common cold once was only had by about 500 people on Earth. It becomes very clear to me that this planet is going into the toilet rather quickly, whether you believe global warming or not, and more and more diseases - heard of SARS or the swine flu? - are popping up and we are forced to research it all and come up with cures or vaccines. By the way, there was news this weekend that a vaccine for cancer may have been found. It would not prevent folks from getting cancer, but it would treat the disease. If this turns out to be the remarkable breakthrough for which mankind has been waiting, it wasn't luck that got us here. Try awareness and contributions and government funding."
Thank you to Jake Linger for this challenge and for helping to raise awareness about Dillon and NPD and the work of his family.
Nadine
You can also read the Bowie Blade-News article that ran prior to the Bowie Baysox event. This flyer was used to promote the event throughout the community.
Many thanks to the Papiers and their extended family and many friends for their continued support of the NNPDF in honor of Dillon!
[June 8, 2009 mem]
NIH Announces New Program to Develop Therapeutics
for
Rare and Neglected Diseases
The National Institutes of Health is launching the first integrated, drug development pipeline to produce new treatments for rare and neglected diseases. The $24 million program jumpstarts a trans-NIH initiative called the Therapeutics for Rare and Neglected Diseases program, or TRND.
For a progam overview and links to more information at the NIH website, please see:
NIH Program: Therapeutics for Rare and Neglected Diseases
A note of congratulations to Cindy Parseghian of the
Ara Parseghian Medical Research Foundation
The NNPDF wishes to send out a note of congratulations to Cindy Parseghian of the APMRF, upon the award of an honorary doctorate of science from her alma mater, Notre Dame. Cindy was honored at the University's Commencement address held on Sunday, May 17th, on the Notre Dame Campus. Cindy's recognition came in light of her work on behalf of research into Niemann-Pick Disease Type C. Cindy was able to share the stage during the commencement ceremony with the principal speaker, President Barack Obama.
Listed below is a portion of the presentation addressing Cindy's work and accomplishments:
Cindy Parseghian (doctor of science)-A 1977 Notre Dame graduate, Cindy Parseghian serves on the University's College of Science Advisory Council. Along with her husband, Michael, she is cofounder of the Ara Parseghian Medical Research Foundation, which they started in 1994 in an effort to find a cure for Niemann-Pick Type C disease, a rare and fatal genetic disorder that struck three of their four children. The foundation is named in honor of the children's grandfather and Notre Dame's legendary football coach. Cindy is president of the foundation, which has raised more than $33 million to help scientists identify the gene responsible for the disease and develop therapies to help the children affected.
http://commencement.nd.edu/commencement-weekend/honorary-degrees/
There is also a video of the full commencement on the Notre Dame University Web site at: http://commencement.nd.edu/commencement-weekend/commencement-videos/ (If you move the video cursor to a little less than half way through the video length ~ the honorary doctorates are presented just prior to President Obama's introduction and speech.)
Cindy, what an honor to be able to watch this moment and share such a special acknowledgement with you and your family. Congratulations on receiving this prestigious honor on behalf of your unwavering efforts towards research and a cure into NPC and in memory of your precious children, Michael, Marcia and Christa.
[May 18, 2009 nmh]
Fundraising Assistance and Tips
As we move into the summer and warmer weather, many families are planning and conducting fundraising and awareness events. We can help you with ideas for fundraisers, guidance, publicity, brochures and newsletters, and various NPD products.
See these NNPDF publications for valuable information and tips to help you get started:
NNPDF Fundraising Packet Guide to Getting Media Coverage
Bright, attractive signage is important for bringing attention to fundraising or awareness events. One of our member families can make high-quality, heavyweight vinyl banners with the colorful NNPDF rainbow swoosh logo and one line of personalization -- perfect for your next event! Click here for a picture and all the details. Contact the NNPDF at nnpdf@nnpdf.org if you are interested in ordering a banner.
We have available many NPD products that you can sell as fundraisers or use as thank you gifts for volunteers and donors. Lorna Tyrrell has recently added reusable Persevere Shopping Bags to her line of Persevere Wear. The bags are just $3 each, or 2 for $5. Click this link to see more Persevere Products .
If you would like, we can help you write a press release for your event. Please complete this Press Release Information Form and return it to the NNPDF several weeks prior to the event.
Please remember to have all donations made out to NNPDF rather than to an individual. There was an unfortunate incident in which a third party claimed to be raising funds for the NNPDF, but never turned in the proceeds to the foundation, resulting in criminal charges. The silver lining is that the community, upon hearing about this, has come forward to support the fight against NPD. You can learn more about this community outpouring of support here: Making-A-Difference
Please contact us if we can be of any assistance as you plan your fundraiser! We appreciate all our families do to advance the Quest for a Cure!
[May 19, 2009 mem]
Update from Genzyme: Completion of Phase 1 Clinical Trial
Genzyme is pleased to announce that its Phase 1 clinical trial of recombinant human acid sphingomyelinase (rhASM) as a potential treatment for Acid Sphingomyelinase Deficiency (ASMD, Niemann-Pick Disease Type B) was completed in April 2009. The main purpose of this trial was to evaluate the safety of different doses of rhASM in adults with ASMD. A total of eleven patients were treated with single doses of rhASM ranging from 0.03 mg/kg up to 1 mg/kg administered intravenously. The trial took place at Mt. Sinai Medical Center in New York City.
The results of this trial have given an indication for the best ways to administer the drug intravenously to patients and effectively monitor for potential side effects. Genzyme is completing the Phase 1 data analyses and preparing for a Phase 2 trial that is expected to begin in 2010 and will likely involve giving repeat doses of rhASM. Genzyme plans to disseminate key findings from the Phase 1 trial as they become available.
Completion of the Phase 1 trial marks an important, hard-earned, and long-awaited milestone for the Niemann-Pick B disease community. Our sincere appreciation goes to all the patients who participated in the trial and their families. Genzyme thanks Drs. McGovern and Wasserstein at Mt. Sinai for their leadership of the trial and Jessica Cristian and Erin Starrett for managing data collection activities.
Congratulations to the Niemann-Pick community on achieving this important milestone.
Betsy Bogard
Associate Director, Program Management
Genzyme Corporation
500 Kendall Street
Cambridge, MA
02142
e-mail: betsy.bogard@genzyme.com
www.genzyme.com
For more information pertinent to the Phase 1 Clinical Trial visit http://www.nnpdf.org/npresearch_11.html
[April 30, 2009 nmh]
New Resource Regarding Experimental Therapies
Recently, there has been more discussion on the listserv and elsewhere about experimental therapies for Niemann-Pick Disease. Some of these therapies are being used in the setting of formal clinical trials, while others are not. In either case, families are faced with considering whether a therapy is right for their affected family member.
Because of this, we have developed a new information sheet for you to use as you think about these issues. It is called "For Your Information - Thinking about Experimental Therapies." Eventually we hope to have a number of these "FYI" documents and they will have a permanent home on the site.
For Your Information: Thinking about Experimental Therapies.
In addition, please note the UK publication from Sense About Science (www.senseaboutscience.org.uk) called "I've Got Nothing to Lose." It is noted in the FYI document, but deserves separate mention. It is a very well-written consideration of issues related to use of experimental therapies. Many of the resources listed in the booklet are in the UK, but by contacting the Foundation Office or the NNPDF Coordinator of Education, Referral and Advocacy, similar US resources can be identified.
[April 7, 2009 cwv]
Niemann-Pick Disease Featured in The
Wall Street Journal
and on Good Morning America
Chris Hempel, with her daughters Addi and Cassi (NPC ~ age 5)
Niemann-Pick Disease is the subject of a Wall Street Journal article, titled: "A Mom Brokers Treatment for Her Twins' Fatal Illness." The article dated April 3, 2009, features the diligent efforts of Chris Hempel, of Reno, Nevada.
Chris and Hugh Hempel are the parents of 5-year old identical twins, Addi and Cassi, who are affected by Niemann-Pick Disease Type C. Due to her tenacity, research is moving forward as she searches for an effective treatment for her precious little girls.
Click here to read The Wall Street Journal article
The Hempel Family was also featured in recent television news stories on Good Morning America and a local story in Oakland, California. Congratulations, Hempels, on your successful efforts on behalf of your daughters and all affected by Niemann-Pick Disease!
Click here to view the KTVU (Oakland, CA) clip featuring the Hempel family
[April 3, 2009 nmh]
Niemann-Pick Disease Featured on CBS National News
Mark and Darrile Papier with their son, Dillon (NPC ~ age 6)
Niemann-Pick Disease was the subject of a CBS Evening National News
segment which aired March 1st, 2009, featuring the Papier family of Frederick,
Maryland.
Mark and Darrile Papier are the parents of Dillon, age 6, who is affected
by Niemann-Pick Type C. The Papiers are members of the NNPDF,
and Darrile recently joined the Foundation’s Board of Directors.
Click here to view the CBS Evening News Segment
[March 2009 nmh]
CTV Calgary
Television News Coverage
Who Inspires U?
Mariarosa Martino and her friend, Marchella Mafrica, garnered television coverage via a Calgary, Canada, news program. Mariarosa has NPD Type B and is a strong supporter of the Canadian Chapter of the National Niemann-Pick Disease Foundation. Click the link below to read about the story and to see a copy of the video.
(The link to the video is in the center of the page titled: “Sage Pullen talks to a young woman with a rare disease.”)
Also, Mariarosa’s friend Marchella is in a contest titled: Who Inspires U? Her video about their lifelong friendship is in the top 20 and there is an opportunity to win a grand prize of $10,000. If her video wins (by getting the most votes), Marchella plans to donate the funds for research into Niemann-Pick Disease……please vote today and daily until the end of the month of March at:
http://www.whoinspiresu.ca/whoinspiresu/whoinspiresu.html
Choose video #11 and vote for Marchella Mafrica.
Thank you to these two young women who, in their support of each other and their ongoing friendship, are an inspiration to us all!
[March 13, 2009 nmh]
Latest
Research Highlights from the NNPDF Research Committee
and our Scientific Advisory
Board Chair, Dr. Dan Ory, MD
Learn about the latest work being done in research laboaratories around the country and internationally via this update from our Scientific Advisory Board (SAB) Chair, Dr. Dan Ory, MD of the Washington University School of Medicine.
Research
Updates and Highlights ~ February 2009
[March 9, 2009 nmh]
Niemann-Pick
Disease in the National News
Your Assistance
is Needed!
Niemann-Pick Disease was the subject of a CBS News segment which aired
March 1st, featuring the Papier family of Frederick, Maryland.
Mark and Darrile Papier are the parents of Dillon, age 6, who is affected
by Niemann-Pick Type C. The Papiers are members of the NNPDF, and
Darrile recently joined the Foundation’s Board of Directors.
To view the segment, visit http://www.cbsnews.com/video/watch/?id=4836925n&tag=main_home_MediaBox .
Please view the link, post your comments, and forward the link
to your family and friends. Our goal is to make Dillon’s
segment the most-viewed story on the CBS Web site.
If enough interest is shown in the segment, perhaps CBS will do a more in-depth story and help raise awareness of our quest for a cure.
Great job, Mark and Darrile, for telling the
NPD story so well!
[March 2, 2009 mem]
Rare Disease Day ~ February 28, 2009
The main objective of Rare Disease Day 2009 is to raise awareness with policy makers and the public of rare diseases and of their impact on patients’ lives. See how you can take action on February 28th, 2009 in support of NPD families and their loved ones.
Rare diseases are chronic, progressive, debilitating, disabling, severe and often life-threatening. Information is scarce and research is insufficient. People affected face challenges such as diagnosis delay, misdiagnosis, psychological burden and lack of practical support. Many rare disease patients are denied their right to the highest attainable standard of health
and continue to advocate their need to overcome common obstacles. www.rarediseaseday.org
How Can NPD Families Get Involved?
In support of
February World Rare Disease Day to be held on February 28th, 2009 ~ two
special internet/web communication links have been established to help
our families "spread the word" about this Global Rare Disease
Day by friends of the foundation. Here is how it works:
Since learning about Global Rare Disease Day, I started thinking about
what we could do in the social media space to draw attention to Rare
Disease Day 2009. Since any public mention of rare diseases is, by definition,
a way to make them less rare, a few of us developed a very simple Web
page (http://retweet.us/) and twitter
presence (http://twitter.com/raretweet)
with the intention of drawing attention to the day within the twitter
social networking community.
We're calling the initiative the #Rare Project. I'm not sure how familiar
you are with how twitter works so the premise of what we're doing might
seem confusing at first, but the Web page should help explain things.
If you read the copy, you'll also notice a reference to Niemann-Pick
as one example of a rare disease.
Please check out: http://retweet.us/ ~
the #Rare Project @ Rare Tweet and http://twitter.com/raretweet ~
Rare Tweet using Twitter.
Begin using these links and sharing this information by forwarding this
page on to your family, friends and classmates and encourage them to
do the same.
Working together we WILL PERSEVERE in our quest for a cure for Niemann-Pick
Disease.
Thank you for your continued support of this effort.
[February 20, 2009 nmh]
**FAMILY NOTIFICATIONS**
Timothy Quandt
July 11, 1986 ~ February
20, 2009
It is with deep sadness and a broken heart that
I pass along news regarding the unexpected and untimely death of Tim
Quandt, loving son of Karen and Gene Quandt and "big brother extraordinaire" of
Ty Quandt (NPC ~ age 12).
Tim, age 22, died tragically over the weekend due to an accident at his
home.
Tim was a student enrolled at the University
of Washington ~ Tacoma and was studying the field of Environmental Sciences.
He had a special interest and strength in the area of chemistry. Tim's
first love was theatre and film -- "all that is theatre." He
spent countless hours videotaping and editing his own home movies and
documentaries, taking special pride in creating an adventure starring
his younger brother, Ty, with his favorite vice...gorillas!!
His family has planned a service in celebration of his life to be held
this Saturday (02/28/09) from 3-4pm at Point Defiance Lodge in Tacoma,
WA with a social gathering to follow the presentation.
Tim's family has asked that in lieu of flowers, donations be made to
create a student scholarship in his name. You may contact the family
at:
Karen and Gene Quandt; 4718 129th Avenue, East; Edgewood, WA 98732
Karen, Gene and Ty wish to thank all for the kind messages, notes and
contacts of support that they have received from the NNPDF community
thus far. They have indicated that they can feel all of the loving and
supportive embraces being sent their way.
Note: Karen was recently elected to the position of Vice-Chair for the
NNPDF board of directors. In addition, the Quandt family will host the
NNPDF Family Support and Medical Conference slated for this summer in
Seattle, Washington.
[February 25, 2009 nmh]
**FAMILY NOTIFICATIONS**
Leslie Barnette Overstreet
Hayes
March 22, 1973 ~ February
20, 2009
We received word that Leslie Barnette Overstreet Hayes, 35, of Jackson, Alabama, died Feb. 20, 2009, at a Mobile hospital. A native of Mobile, Leslie was born March 22, 1973. She was a member of Perry's Chapel United Methodist Church in Gainestown. Survivors include her husband, William Franklin Hayes III, of Jackson; and one daughter, Katie. She is also survived by her parents, Deanna and Ronnie Overstreet, of Gainestown, Alabama.
Leslie fought a brave and gallant battle all of her life
against the life-limiting disease known as Niemann-Pick Disease Type
B. Her extended family at the National Niemann-Pick Disease Foundation
grieve along with her loved ones at the loss of such a beautiful and
vibrant young woman, mother, wife, daughter and friend. She will
truly be missed.
[Feb 24, 2009 nmh]
**FAMILY NOTIFICATIONS**
Melanie Dawn Walters
September 13, 1973 - January
14, 2009
We received word that Melanie Dawn Walters (NPC), of Lumberton, North Carolina, passed away at the age of 35 years. She was the daughter of Bruce and Wanda Allen Walters. Melanie was a 1991 graduate of Littlefield High School and a member of Antioch Baptist Church. She served as a teacher's assistant with the Public Schools of Robeson County. Surviving are her parents; a sister, Rhonda Walters; maternal grandmother, Mary L. Allen; paternal grandmother, Mary Nell Walters; and a cousin, Dianne Wilkins. Memorials may be made to the NNPDF.
[Feb 13, 2009 mem]
Zavesca (Miglustat) Receives EU Approval
Actelion Ltd announced that Zavesca (miglustat) has been approved in the European Union for the treatment of progressive neurological manifestations in adult patients and pediatric patients with Niemann-Pick Type C disease (NPC). Zavesca is the first treatment to be approved for patients with NPC. To read the full release, click here.
**NNPDF Newsletter**
The latest issue of the NNPDF newsletter is out, full of the accomplishments made through the perseverance and collaboration of NPD families and supporters. The newsletter is available as a PDF for online viewing here: NNPDF Newsletter
Print copies of the newsletter were mailed out to NNPDF members and supporters. Additional copies are available for use at fundraisers and educational events. If you would like to help raise awareness of Niemann-Pick Disease, just contact our office at nnpdf@nnpdf.org..
[Jan 8, 2009 mem]
**NNPDF Annual Meeting**
The 2009 Annual NNPDF Board Meeting will be held the weekend of February 6 - 8, in Milwaukee, Wisconsin. The Foundation's annual board meeting is open to all members of the NNPDF. Please contact the NNPDF Central Office if you would like more information pertaining to the annual meeting.
[Jan 8, 2009 mem]
"It's Raining Hope in Seattle"
2009 Family
Support and Medical Conference
Thursday,
July 30th - Sunday, August 2nd, 2009
Seattle,
Washington
Doubletree Guest
Suites
Hosts for the NNPDF 2009 Family Conference, Karen and Gene Quandt, together with conference team members, have begun planning an event to address the needs of our families, including the opportunity to learn the latest on research and treatments for NPD.
Conference attendees will also have the opportunity to see such attractions as the Space Needle, the beauty of the Puget Sound Region, the majestic Cascade Range and the towering, volcanic Mount Rainier.
Mark your calendar and make plans to join us in Seattle this summer!
Family Conference Postcard Side 1 Family Conference Postcard Side 2
NNPDF Member Families -- Watch your mail for more details about the conference.
Click here to make your hotel reservations with Doubletree Guest Suites in Seattle as part of the NNPDF block of rooms..
[March 25, 2009 mem]