Kaitlyn Kay Bourgeault

Kaitlyn Kay Bourgeault (NPA)
7/1/09 - 3/22/12

With heavy hearts, we share the news that Kaitlyn Kay Bourgeault, the daughter of Deanna and Chip Bourgeault of Indian Trail, North Carolina, passed away due to the effects of Niemann-Pick Disease Type A (Acid Sphingomyelinase Deficiency or ASMD).

Kaitlyn and her family have touched and inspired so many with their strong faith and the support of their loving community, sharing their story and poignant photos through their family's blog, Kaitlyn's Korner.

For service information, visit the NNPDF's NewsLine page.

The family has asked that in lieu of flowers, donations may be made to the NNPDF in Kaitlyn's name.

Our deepest sympathy goes out to Chip and Deanna, and all of Kaitlyn's family and many friends.

Adelaida Kay Van Meter

Adelaida Kay Van Meter (NPA)
6/13/10 - 2/29/12

We are very sad to report that we have received word of the death of little Adelaida Kay Van Meter, at the age of 20 months, due to Acid Sphingomyelinase Deficiency (ASMD), i.e., Niemann-Pick Disease Type A.

The daughter of Murro Van Meter and Sophia Fox of Massachusetts, "Adelaida loved everyone and everything," writes her mom. "She especially loved singing songs, baby dolls, reading books, and going on adventures. No one ever told Adelaida she wasn’t supposed to be the happiest little girl in the world! Her vibrant personality brought joy to the lives of her family and friends. Adelaida was an old soul. Words cannot express how she will be missed. There will be an enormous emptiness for a long time."

To read and see more about Adelaida's beautiful, too-short life, read the March 11 post at the Bourgeault family's blog, Kaitlyn's Korner. For more information about Niemann-Pick Disease Type A, visit www.nnpdf.org.

Our deepest sympathy goes out to Adelaida's family and friends in their loss.

NNPDF 20th Anniversary - 1992 - 2012

This year, the National Niemann-Pick Disease Foundation will mark 20 years of providing services to families affected by NPD, and raising awareness and funding for research into the causes and treatment of NPD.

Though we all wish there was no need for an organization dealing with the heartbreaking disease that is Niemann-Pick, the reality is, that until there are effective treatments and a cure, the need is great, and the NNPDF can be proud of all that it has achieved in the fight against NPD.

To learn more about the history of the NNPDF and the progress made since it was established, and how you can join in the recognition of this milestone, visit our special NNPDF 20th Anniversary page.

Edward H. Schuchman Research Fellowship - Request for Applications

The National Niemann-Pick Disease Foundation is pleased to announce a request for applications for the 2012 Edward H. Schuchman Research Fellowship, examining the biology of Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease).

M.D., Ph.D., and/or D.V.M. postdoctoral fellows are eligible to apply for funding to improve our understanding of the biology and pathogenesis of Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease).

Preference will be given to research projects developing new therapies for ASMD, and for identifying biomarkers to improve diagnosis or to monitor disease progression and efficacy in clinical trials.

The fellowship provides support of $40,000 per annum for two years and may be renewable based on performance. Applicants must be currently associated with a recognized laboratory.

These fellowships are named for Edward H. Schuchman, Ph.D. a pioneer in ASMD research, and supporter of the NNPDF.

Applications are due May 1, 2012, and the fellowship will begin September 1, 2012. Visit the NNPDF's Web site for more information and application procedures.

Rare Disease Day - Hug Somebody Special and Rare!

Rare Disease Day - Leap Day
February 29, 2012

An opportunity to raise awareness and to give somebody special a hug!

World Rare Disease Day is a fitting time to highlight a special video/slideshow montage of some of our NNPDF member families.

The music video, created to honor the love and support of family relationships, is set to an upbeat song from singer/songwriter Rachel Taylor, titled "Here for You Always."

Rachel is the cousin of Lorna Tyrrell (mom to Naomi, NPC).

Listen to "Here for You Always" once, and we guarantee you will be humming its catchy tune the rest of the day! :-)

See the video on YouTube, then go hug someone rare and unique!

For more of Rachel Taylor's music, visit http://www.racheltaylormusic.com/.

For more about World Rare Disease Day, visit the NNPDF's special page.

Countdown to Rare Disease Day on February 29!

The 5th Annual Rare Disease Day will be recognized on the ultimate rare day -- Leap Day -- on Wednesday, February 29.

Join with five-year-old Johnathan Spencer in raising awareness of rare diseases -- Niemann-Pick Disease in particular.

Visit the NNPDF's Rare Disease Day page for many fun and easy ideas of how you can get involved!

Leap Day is World Rare Disease Day

Please Help Us Raise Awareness!

As we draw closer to World Rare Disease Day on Leap Day, February 29, we want to remind you that there are many simple ways you can get involved and help raise awareness and funding for those affected by rare diseases, including Niemann-Pick Disease.

One super-easy way to raise awareness is to right click the Rare Disease Day logo, copy it, save it, and use it as your Facebook profile photo.

Please visit the NNPDF's NewsLine page for more easy ideas to recognize Rare Disease Day and raise awareness for those who are affected by rare diseases the world over.