Wednesday, June 30, 2010

NNPDF Announcement

A 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

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

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 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

Any questions or inquiries may be directed to the NNPDF Central Office.

Friday, June 18, 2010

Brooke Lynn Thomas

Brooke Lynn Thomas
March 5, 2001 - June 16, 2010

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.

Despite the challenges of Niemann-Pick Disease Type C, Brooke was able to complete the school year. She subsequently developed a case of pneumonia which she was unable to overcome.

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.

A visitation and celebration of Brooke's life will be held on Sunday and Monday, June 20 and 21. Please visit the NNPDF NewsLine page for more details.

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

Thursday, June 17, 2010

NNPDF Families Working to Raise Awareness and Find a Cure

The summer fundraising season is upon us, and many NNPDF families are pulling out all the stops to raise awareness and funds for the fight against Niemann-Pick Disease.

Of course, many of our families do fundraising year-round, but the warmer weather lends itself to many types of outdoor fundraisers that bring out the crowds looking for something fun to do while supporting a worthy cause.

This Saturday, June 19, golfers will compete in the Alex and Laura Vaughan Memorial Golf Tournament in Durham, Ontario, to benefit the Canadian Chapter of the NNPDF. Next Friday, June 25, an Evening of Jazz in Vaughan, Ontario, will benefit the Life for Luke (Liegghio) Foundation.

The weekend of June 26-27 will see four events benefitting the NNPDF. Saturday, June 26, is the date for this year's Hanover (Massachusetts) 5K Road Race in memory of Erin Roberts, as well as the Golf "FORE" Stacey (Vorpahl) Memorial Classic event in Cold Spring, Wisconsin.

On Sunday, June 27, the Perugini family will host the Marcello and Matthew Perugini Memorial Walk (Waterbury, Connecticut), and Annie OConnor-Smith's husband, Mike, will compete in the Ironman Triathlon in Coeur d'Alene, Idaho.

Thank you to all our NNPDF families, friends and supporters, who organize, donate and participate in these events to raise funding for essential research and to provide all-important family support services!

More events are scheduled around the nation for the coming weeks. Visit the NNPDF Web site's Upcoming Events page for all the details.

One final note -- as many are celebrating graduations around the country, the Naugatuck, Connecticut, High School lovingly dedicated their 2010 yearbook to the memory of Bryanna DeSouza (NPC), who would have graduated this year. Visit the NNPDF's Recent Events page for the complete posting.

Wednesday, June 9, 2010

LoganFest Basketball Tournament a Roaring Success!

The Kalles (Puyallup, Washington) 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."

For all the details, including links to videos from LoganFest, please visit the National Niemann-Pick Disease Foundation's NewsLine page.

Tuesday, June 8, 2010

Genzyme Marathon Team Runs for Rare Diseases

Genzyme Marathoners Raise Funds and Awareness for Rare Diseases
Two Run Boston Marathon in Honor of Niemann-Pick Disease Type B

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! "

For all the latest news from the National Niemann-Pick Disease Foundation, visit