Foundation NewsLine

**FAMILY NOTIFICATIONS**

Corynne Michelle Bouchard (NPC)

My dearest NNPDF families and friends,
It is with great sadness that I let you know of another young beautiful child lost to Niemann-Pick Disease Type C.  We received word from Kristen Bouchard that little Corynne passed away on Sunday, May 4th, 2008. 

Please keep his family and friends in your hearts during this difficult time.  Our deepest condolences and heartfelt sorrow go out to her twin Cathryn, brothers Caleb and Collin, her parents Justin and Kristen, and other family members. Included is a note from her mom, Kristen:

"Our precious, sweet, ever-smiling Corynne is no longer sick - she died yesterday, Sunday, May 4th, around 3:00 pm.  She fought an amazing battle against this horrible disease, and never complained about it.  She taught us so much.

Our hearts are broken, but I know that she is finally able to rest and that she is in a place that is truly incredible.We will send out details about arrangements when they are made. I know I have said this so many times, but we are truly grateful for the love and support that our friends and family have shown to us.  God bless you all.

Love,

The Bouchard Family"

"Angel Twins" Corynne and Cathryn

[May 7th, 2008]

**FAMILY NOTIFICATIONS** 

Michael Landry (NPC)

My dearest NNPDF families and friends,
We received word from Maureen Landry that her son, Michael, lost his battle with NPD Type C last week Wednesday (4/16/08)

after spending a wonderful day with surrounded by family and friends. 

Please keep his family and friends in your hearts during this difficult time.  Our deepest condolences and heartfelt sorrow go out to his family.

Damon Cardinal (NPA)

It is with the heaviest of hearts that I advise you of another young child lost to Niemann-Pick Disease Type A. We received word over the listserv that little Damon passed away also on April 16th, 2008 at the young age of 16 months with his mother and father holding him.
Please keep his family in your hearts as they journey on in the days ahead without their beloved little boy.

[April 17th, 2008]

**Family Update** 

The family of baby Damon (NPD Type A ~ age 1 year) has sent an update on his recent status:

Hello,

We just wanted to update everyone on how our little Damon is doing since coming home February 8th.
Damon slipped into a coma last night and is sleeping peacefully.   His doctors said his heart is so very strong, but his liver is ready to shut down. He has been such a little trooper through all his suffering.

Elsa & Delaney (Mom and Dad of Damon)

Damon just before his 1st Birthday

[April 15, 2008]

**ANNOUNCEMENT** 

Madison Woman of the Year ~ Update!

The "Daily Jefferson County Union" newspaper ran a front page article about the history of the NNPDF as it pertains to our current Board Chair, Barbara Vorpahl.  You may read a copy of the full article here:  Barb Vorpahl WOY Daily Union Article 032408

You may continue to vote for Barb and the NNPDF until March 31st, 2008 at:  www.madisonwoy.com.  The nominee with the most votes will garner a contribution to the charity of her choice, lots of recognition for her accomplishments on behalf of the her work and a shopping spree at Macy's!!

You may vote for Barb and the NNPDF once-a-day until March 31st, 2008.

Woman of the Year

[March 24, 2008]

**FAMILY NOTIFICATIONS** 

Ibrahim Hamdan (NPC)

My dearest NNPDF families and friends,
We received word via the NPC list-serv that little Ibrahim Hamdan has lost his battle with NPD Type C last week Thursday (3/20/08) after
being in a coma for a week.  Ibrahim's older brother, Ahmad, also died from NPC.  Please keep his family and friends in your hearts during this difficult time.  Our deepest condolences and heartfelt sorrow go out to his family.

Anthony Paul Sanchez (NPC)

It is with the heaviest of hearts that I advise you of another young adult lost to Niemann-Pick Disease Type C. We received word over the weekend that Anthony Paul Sanchez ~ NPC ~ passed away on March 3rd, 2008 just a few days short of his 23rd birthday.
Please keep his family in your hearts as they journey on in the days ahead without their beloved son.

[March 23, 2008]

**VOTE NOW ~ VOTE OFTEN** 

Our very own, Barb Vorpahl, NNPDF Volunteer Board Chair, has been nominated as one of the top TEN finalists in the Madison, Wisconsin's Woman of the Year contest!!  Voting begins TODAY, March 17th and ends on March 31st, 2008.  The nominee with the most votes will garner a contribution to the charity of her choice, lots of recognition for her accomplishments on behalf of the her work and a shopping spree at Macy's!!

You may vote for Barb once-a-day until March 31st, 2008.

Woman of the Year

The NNPDF has been spirited on in great part due to the energy and perseverance of so many of our families and board of director members, one of the most prominent being Barbara Vorpahl. We can now take a moment to read her story as posted by her good friend, and work to share this information with our families, friends and community members. By sharing Barb and Stacey's story, we will also be sharing many of our individual stories of courage, strength and perseverance as our loved ones journey on with Niemann-Pick Disease. Read Barb's posting below, vote for her and share this with all of your family and friends. Thank you.

Charity: National Niemann-Pick Disease Foundation

It is every parent’s worst nightmare, "Your child has a rare terminal disease with no treatment or cure. Take her home and love her." Despite this devastating news, Barb Vorpahl not only lovingly cared for her daughter, Stacey, until her death from Niemann-Pick Disease (NPD) at age 19, but she persevered over the years and applied lessons learned to help found and establish the only patient support, education, advocacy & research group in the United States for NPD.

Due to Barb’s diligent efforts the past 21 years, when a family now receives this tragic diagnosis they are referred to the National Niemann-Pick Disease Foundation (NNPDF), of which Barb currently acts as the Board Chair in a volunteer capacity. The NNPDF, a non-profit agency with foundation headquarters operating from Fort Atkinson, WI, offers services free of charge to families with a loved one diagnosed with this rare terminal disease.

Under Barb’s leadership, the NNPDF (www.nnpdf.org) just celebrated its 15th Anniversary and is truly a life-line of support to NPD family membership in the US & internationally. Foundation services have grown and now include newsletters, educational materials/videos, medical referrals, genetic counseling, an annual family support & medical conference, as well as funding for research & scientific fellowships.

Barb inspires all who know her with her perseverance to create a living legacy to Stacey and to ensure that "today, well lived, makes every yesterday a dream of happiness and every tomorrow a vision of hope".

Woman of the Year

[March 17, 2008]

**ANNOUNCEMENT** 

16th Annual NNPDF Family Support and Medical Conference

Thursday, July 31st, 2008 - Sunday, August 3rd, 2008

Atlanta, Georgia

The NNPDF Board of Director's along with our family hosts, Melissa and Jimmy King, are pleased to announce plans for the 16th Annual NNPDF Family Support and Medical Conference to be held in Atlanta, Georgia over the weekend of July 31st - August 3, 2008.  This years theme:  Dixieland Delight will certainly help to set the pace for another weekend conference filled with warm family experiences while offering the much needed clinical/medical information and research updates into NPD.

Please continue to watch this website for location updates and conference registration packets.

[March 2008]

**INTRODUCING** 

The NEW NNPDF Equipment Exchange Program

We have an exciting announcement for all of our Foundation members as we introduce the new NNPDF Equipment Exchange Program.

As NPD patient and family needs change during a chronic illness there may be equipment stored in homes that is no longer needed and could be put to use by another family. 

Our goal is to ensure that all NPD families have access to equipment that they need to assist their loved ones affected by Niemann-Pick Disease. The NNPDF will assist families who wish to donate this equipment. The foundation will retain and post on the web site a log that describes the type, size and location of available equipment and information about equipment needs. 

This program is being funded in large part by the Jami and Lisa Chavez family in memory of their daughter, Breann, who passed away from NPD Type C in June 2006, at the age of 3.  Their annual "Ducks for Bucks" event generated the monies to assist in offsetting the cost to ship equipment from home to home. 

Please refer to the foundation web site at:  Family Services/Information for Families/Equipment or via this link for more details and information: http://www.nnpdf.org/familyservices_09.html

We are excited to be able to assist families with this new project and look forward to working with you all.

[March 5th, 2008]

**INTRODUCING** 

Understanding Niemann-Pick Disease Type C and its potential treatment.

We at the NNPDF are very pleased to let you all know about a new, comprehensive booklet that is now available about NPC. The booklet, called "Understanding Niemann-Pick disease type C and its potential treatment," was written by Jackie Imrie and Dr. Ed Wraith from the United Kingdom NPD program and is sponsored by a generous grant from Actelion Corporation. It is an excellent overview of all aspects of NPC for the physician and other health care providers. It includes a summary of our current understanding of the disease processes based on research, as well as a summary of the clinical symptoms of the disease, genetics,diagnosis and treatment strategies. Because the authors are from the UK,the printed booklet contains a resource list for the UK, but I have updated our NNPDF resource page and will include it with each US mailing. I have only a limited number of copies, so will be happy to send one copy to any family that requests it. Please note: it is designed for health care providers so may be a bit technical for somefamilies. Our intent is that you share it with your child's health care team.

If you would like a copy, please e-mail me directly at catherine.walshvockley@chp.edu. Do not hit the reply button or your message will go to the listserv. Please include your mailing address in your note to help me more quickly get the booklet delivered to you.

Regards,

Cate

[March 4th, 2008]

Hello NNPDF Family and Friends,

Word has trickled down from our friends to the "north" (Canada ~ that is!!) that the 7th Annual Life for Luke Foundation Charity Dinner Gala and Silent Auction was, yet again, another HUGE success.

Enio and Lucy Liegghio, along with their event committee, somehow manage to pull together unique and successful events year after year. In reality, we know that it is through countless hours of volunteer time, talent, sweat equity and PERSEVERANCE.

This years gala theme revolved around the mystery of NPC research and accordingly puzzle pieces accompanied this statement:
"YOU are the most important piece to the "Life for Luke Foundation". Help us to solve the mystery of NPC one piece at a time..."

Check out the "Life for Luke Foundation" home page at:
http://www.lifeforluke.com/gala2008.htm

This year, proceeds from their event are being sent to Sick Kids Foundation of Toronto Canada and the Canadian Chapter of the NNPDF. Tammy Vaughan and her family were able to attend the Gala on Saturday night and was "blown away" by the number of attendees, as well as, the number of beautiful and exquisite auction items and the unique take on the evening's meals and entertainment.

The NNPDF would like to take a moment to add a note of thanks to the
Liegghio family and their supporters for the work that they are doing in memory of Luke Daniel Liegghio (NPC: 05/05/97 ~ 06/10/05) and their continued support of research into NPC.

Luke's Dad, Enio, penned this poem for his precious son which encompasses so much for so many:

Do not cry for me as I am not here...
The sun is my smile,
The stars are my eyes,
The wind is my touch,
The rainbow is my endless love for you.

Words of thanks may be sent directly to the Liegghio web site at: info@lifeforluke.com.

All my best,
Nadine
Director of Family Services
National Niemann-Pick Disease Foundation

[March 4, 2008]

Hello NNPDF Family, Friends and Supporters,

We have received word from contacts at the America's Giving Challenge that based on the account activity for the NNPDF in the America's Giving Challenge ~ we are one of the 50 nationwide non-profits with the greatest number of total donations and are eligible for an additional $1,000.

The NNPDF received over $4,700 in direct donations to the foundation via 146 contributors ~ not bad considering we only had two weeks to take part in this 8-week long program. Congratulations to all who supported our efforts!! Nadine

**************************************************************************** **************************************************************

Congratulations!

Great news! Your organization has been awarded $1,000 through the America's Giving Challenge, an exciting online initiative designed to make giving part of living. Presented by Parade Magazine and the Case Foundation, with Network for Good as their donation partner, the Challenge called on participants to raise funds for and/or donate to the charities and causes they care about most.

The 50 nonprofits with the greatest number of total donations made to them through Network for Good were then eligible for an additional $1,000. And your organization is one of the top 50. Congratulations!

We believe America's Giving Challenge has shown the true power of online philanthropy, and we're excited to reward organizations doing interesting, inspiring work. You clearly have a lot of people who care deeply about your cause.

And again, congratulations!

Yours in giving,

Network for Good, The Case Foundation, and Parade Magazine

Rebecca Ruby
Marketing Specialist, Network for Good

[March 4th, 2008]

The NNPDF Board meeting will be February 1-3, 2008 in Milwaukee, WI. This is the main annual business meeting of the Foundation and will include budgetary approval, the annual business plan, and consideration of research grant applications. The meetings are open for NNPDF members to observe. If you wish to observe the Board meeting, contact Barb Vorpahl, Chairman for additional information.

[ Jan. 4, 2008 ]

New information about diagnostic and genetic testing for all forms of Niemann-Pick is available.  A number of laboratories have recently expanded testing services for a variety of lysosomal storage diseases, including Niemann-Pick disease types A, B and C. This is particularly significant due to the recent discontinuation of some types of biochemical testing for NPA and NPB, especially prenatal testing in the USA.

DNA based testing, also called molecular testing, is now clinically available to look for mutations causing NPA and NPB in affected individuals, and is available in an additional 2 laboratories for NPC for testing of affected individuals. If such testing reveals the mutations that caused the disease in the affected family member, carrier testing for immediate family members and prenatal testing for the parents of the affected individual would also be available. Costs and time to complete the testing vary depending on the type of testing, the disease and the laboratory doing the testing. Interpretation of test results may be complex and thus involvement of a genetics health care professional (genetic counselor, genetics nurse, MD geneticist) in the testing process is highly recommended.

For more details about the testing, or for referral to local genetic services to obtain testing contact NNPDF's Coordinator of Education, Referral and Advocacy.

[ Feb. 26, 2007 ]

A new listserv is now available for Type A families, friends, and supporters. This email list allows families to communicate with others who face the same situation. You can join online or by email by clicking here.

NNPDF now offers four support listservs - one for each Niemann-Pick Type (A, B, and C) and one for siblings. We also provide access to For The Angels, a list for families who have lost children to Niemann-Pick.

[ Jan 12, 2007 ]

The Type B clinical trial for enzyme replacement therapy has been approved by the FDA and recruiting has begun. The Phase I trial will recruit 15 patients to evaluate dose levels and possible side effects.  Genzyme Corp. developed the enzyme replacement therapy and has worked to obtain FDA approval for this trial. There have been repeated delays as the FDA requested more information about clincial progression of Type B, manufacturing, and other issues. NNPDF has invited Genzyme representatives to the annual Family Conference for many years and the collaboration of Genzyme, Mount Sinai, and the Type B families has led to this exciting advance. News concerning the trial will be reported on this web site as it becomes available.

Click here to learn more.

[ Nov. 16, 2006 ]

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