Thursday, December 30, 2010

Time is Short - Make a Year-End Gift Today

Two Days Left to Make a Tax-Deductible Contribution

When you make a financial donation to the National Niemann-Pick Disease Foundation, you get so much more than a tax deduction. You will enjoy the wonderful feeling of knowing you’re making a tangible difference in the lives of children, adults and families living with the challenges of NPD!

Your gift drives the essential research that will unlock the mysteries of NPD, bringing effective treatments and therapies for the ravages it wreaks on the body and brain.

Your generosity also provides important support services for the families who walk the lonely road of a rare disease, helping them connect with others who know and understand, and providing them with the information they so desperately need.

Even the most modest donation can make an enormous difference when added together with the gifts of others. Please, remember the families of the NNPDF in your year-end charitable giving!

Thank you for making a difference in the lives of those battling Niemann-Pick Disease!

Make a donation to the NNPDF

Wednesday, December 29, 2010

Happy New Year from the NNPDF!

During these final days of 2010, we at the National Niemann-Pick Disease Foundation give thanks for individuals like you who are vital to fulfilling our mission.

Thank you for being part of our efforts to offer support to families and to further research into treatments and a cure for Niemann-Pick Disease!

We'd like to humbly remind our generous supporters that a year-end gift to the NNPDF can reduce one's income tax obligation while providing meaningful support for the work of the foundation and offering the gift of hope for all those suffering from NPD.

The NNPDF gratefully accepts direct financial donations, United Way and Combined Federal Campaign contributions, gifts of stock, in-kind donations, and planned gifts such as bequests, beneficiary designations or life insurance policies.

If you'd like to designate your gift in honor of a loved one, the NNPDF will gladly send out a card to the honoree acknowledging your gift.

One item of special note -- a late-breaking tax measure allows IRA year-end donations until January 31st. This key charitable tax break took effect December 17th, allowing those age 70 1/2 or older to make tax-free 2010 year-end charitable gifts of up to $100,000 from their IRA accounts up until January 31st, 2011.

Please visit our Web site for more information about philanthropic year-end gift ideas, and as always, we invite you to contact us with any questions.

With deepest gratitude, we thank you for your continued support, and we send our most sincere wishes to you and your family for a wonderful holiday season and a healthy, happy New Year!

Thursday, December 23, 2010

Season's Greetings!

As 2010 draws to a close, we at the National Niemann-Pick Disease Foundation give thanks for all who have supported our foundation's vital mission throughout the past year.

Thank you for being part of our efforts to offer much-needed support to families struggling with the challenges of Niemann-Pick Disease, and to further research into treatments and a cure for NPD!

Through your generosity we have been able to offer the gift of hope for all those affected by Niemann-Pick Disease, across the country and even around the world.

With sincere gratitude, we send our Best Wishes to you and your family for a wonderful Holiday Season and a happy, healthy New Year filled with Peace, Joy and Love!

Monday, December 20, 2010

Holiday Gifts & Year-End Giving to Support NNPDF

Programs of Research and Family Services Benefit

Online Shoppers: Use this special link to shop online, and GoodSearch when you surf the Web – both benefit the NNPDF-- and you can receive special coupons and discounts, as well.

Each year, a growing number of families depend on the NNPDF for medical information, research updates and emotional support as they struggle to learn about a rare disease while caring for an ill family member.

We, in turn, depend on those with the compassion and the financial resources to help us drive forward the research that will ultimately result in treatments and a cure for NPD, and to provide support services to those affected by this disease.

As you consider your year-end tax planning, we’d like to remind you that a gift to the NNPDF can reduce your income tax obligation, while providing meaningful support for the work of the foundation. If you designate your gift in honor of a loved one, the NNPDF will gladly send them an acknowledgement card.

The NNPDF gratefully accepts direct financial donations, United Way and Combined Federal Campaign contributions, gifts of stock, in-kind donations, and planned gifts such as bequests, beneficiary designations, or life insurance policies. Please visit our special page for more information about these philanthropic year-end gift ideas.

Donations may be mailed to: NNPDF; P.O. Box 49; Fort Atkinson, WI, 53538. Online credit card donations may be made here. We invite you to contact the NNPDF Central Office with any questions.

If you have friends or relatives who might be interested in making a year-end gift in honor of a loved one, please forward this information to them, as well.

2011 Wall Calendars and PERSEVERE Clothing
Ring in 2011 with these quality 2011 wall calendars in two very special designs! Choose from playful puppies or lush scenic paintings by New England Artist Don Greer, grandpa of 7-year-old Naomi Tyrrell (NPC). Calendars are just $10 each, and shipping is free on quantities of five or more.

Encourage your family and friends to “Press On! Keep At It! Get it Done!” with the very popular, stylish and comfortable PERSEVERE wear t-shirts and hoodies.

Sales of these calendars and PERSEVERE wear benefits the NNPDF, raising funds for research and family support services.

Order calendars and PERSEVERE wear directly from Lorna Tyrrell – click the links above for complete details and order forms.

Thank you for your generous support, and "Happy Holidays" to you!

Wednesday, December 8, 2010

2011 Calendars Make Great Gifts!

Choose Playful Puppies or Beautiful Scenic Paintings

Still in time for holiday gift-giving, these very special wall calendars offer a choice of two designs: playful puppies or gorgeous scenic paintings. Your purchase of these calendars brings hope to the children and families who face the challenges of Niemann-Pick Disease, as $5 from the sale of each calendar supports the NNPDF.

Treasuring Each Day: Working Together to Cure Niemann-Pick Disease is full of playful puppies and sayings of hope and inspiration. Love Always Hopes is a collection of New England Artist Don Greer's works, compiled in honor of his granddaughter's fight against Niemann-Pick Disease (seven-year-old Naomi Tyrrell, NPC). Along with Mr. Greer's beautiful paintings, the calendar features inspirational Bible verses on each month's pages

A great gift idea for teachers, family and friends, the calendars are $10 each, plus $2 shipping for one, $3 shipping for two, $5 shipping for three or four. Free shipping on orders of five or more calendars. (Approximate size is 17 inches by 11 inches when open.)

Order directly from the calendars' creator, Lorna Tyrrell. Visit for more details and the order form.

Friday, November 19, 2010

Oxidative Stress in Niemann-Pick Disease Type C

Molecular Genetics and Metabolism recently published a new article titled, "Oxidative stress in Niemann-Pick disease, type C," from authors Fu R, Yanjanin NM, Bianconi S, Pavan WJ, Porter FD.

The article is summarized as follows:

Oxidative stress is caused by an imbalance between the production of reactive oxygen and a biological system's ability to detoxify the reactive intermediates or easily repair the resulting damage. Increased oxidative stress has been reported in human NPC1 mutant fibroblasts and in tissues from Npc1 mutant mice. However, oxidative stress in NPC patients has not been established. This study demonstrated increased oxidative stress in NPC patients.

Blood samples from 37 children and adults with NPC were tested. Compared to control values, the NPC samples showed significant decreases in both the fraction of reduced coenzyme Q10 (CoQ10) and Trolox equivalent antioxidant capacity (TEAC). Reduced CoQ10 functions as an antioxidant protecting cells from oxidative damage. Trolox is used as a reference substance to measure the combined antioxidant capacity in biological specimens. Both findings are consistent with increased oxidative stress in NPC. However, supplementation with CoQ10 was not effective in correcting the decreased fraction of reduced CoQ10. Demonstration of increased oxidative stress in NPC patients provides both a rationale and the biomarkers necessary to test the efficacy of antioxidant therapy in NPC.

Visit the NNPDF's Latest Research page for a link to the complete article or for more information about Niemann-Pick Disease.

Thursday, November 4, 2010

Future Blood Test for Niemann-Pick C

Diagnosis of NPC May Soon be Done Via Blood Test

Niemann-Pick Disease Type C (NPC) may soon be diagnosed with a simple blood test, according to a report from the Washington University School of Medicine, St. Louis, Missouri, published recently in Science Translational Medicine.

Dr. Dan Ory of Washington University, and the chair of the NNPDF's Scientific Advisory Board (SAB), is one of the report's authors, along with Dr. Forbes "Denny" Porter, of the National Institutes of Health (NIH), also on the NNPDF's SAB; and Nicole Yanjanin, R.N., NIH, and on the NNPDF's Board of Directors; and others.

Visit Newswise for the complete story and video clip, which features Dr. Ory along with Nancy and Art Sullivan, parents of Karen Sullivan, who passed away from NPC in 2004, at the age of 33.

For more information about Niemann-Pick Disease and recent research news, visit the National Niemann-Pick Disease Foundation at

Monday, October 25, 2010

Online Auction for Niemann-Pick Disease

The NNPDF’s Online Auction has something for everyone!
Get a jump on holiday gift shopping, while benefiting research and support services for families battling Niemann-Pick Disease.

The auction offers a full array of exciting items, with all proceeds to advance our Quest for a Cure! Pictured is just a small sampling of the items you’ll find there.

The NNPDF Online Auction is accepting bids up until midnight October 31st. Many new items have been added recently, with items ranging in value from $10 to fabulous trips worth several thousand dollars -- something for every budget and some real “steals” to be snapped up -- gourmet foods, sporting event tickets, “Persevere” clothing, autographed memorabilia, handmade crafts, jewelry, travel, artwork, etc.

Your participation is key to our success. Please help us raise funds to advance research for a cure and to provide important support services for our families!

Please don’t hesitate to contact us if you have any questions or need further information about the October Awareness Online Auction or about Niemann-Pick Disease. Visit the NNPDF at

Thursday, October 14, 2010

Institute of Medicine Releases Report on Rare Diseases

The Institute of Medicine (IOM) recently released a report calling for implementing an integrated national strategy to promote rare diseases research and product development.

The report, Rare Diseases and Orphan Products: Accelerating Research and Development, is the result of a two-year study commissioned by the National Institutes of Health (NIH) and the Food and Drug Administration (FDA).

To read the full report, visit the NNPDF's Latest Research page and click the link.

Thursday, October 7, 2010

One Child's Journey through Niemann-Pick Disease

One Child’s Story Through Niemann-Pick Disease Type C

Stacey Lynne Vorpahl (NPC)
January 3, 1985 – October 9, 2004

In loving memory of Stacey and all the other precious children lost to NPD, and in honor of those still struggling, please join with us in our Quest for a Cure. Follow the link to view Stacey's story, as told by her parents in text and photos.

10 – 10 – 10 Challenge
Please Help Raise Awareness for Niemann-Pick Disease

Meet the NNPDF's 10-10-10 Challenge and take at least one simple action on October 10,2010, to spread the word about this devastating disease.

Thank you for your help and support, on 10-10-10 and always!

Tuesday, October 5, 2010

2011 Puppies Calendar Now Available!

Get ready for 2011 with the latest edition of the darling Puppies Calendar, "Treasuring Each Day!"

Featuring playful puppies and sayings of inspiration and hope, this very special wall calendar is dedicated to the children and families who struggle every day with the challenges of Niemann-Pick Disease (NPD).

Get a jump on your holiday shopping by ordering ten calendars on 10-10-10, supporting the NNPDF's program of research and important Family Support Services at the same time!

Your purchase of these calendars gives hope to families affected by NPD as funds are raised for essential research into treatments and a cure. Turning the page each month, we are reminded that we are in a race against time to find treatments and a cure for all children and adults with NPD.

NNPDF member Lorna Tyrrell created the Puppies Calendars in honor of their seven-year-old daughter (who loves puppies and bunnies and all things cuddly!), Naomi (NPC). Please order calendars directly from the Tyrrells using the order form available here.

Thank you for your support of all those affected by Niemann-Pick Disease, on 10-10-10 and every day!

Friday, October 1, 2010

Take the 10-10-10 Niemann-Pick Disease Challenge!

Intriguing dates such as 10/10/10 don’t come around all that often, and it seems fitting to proactively observe this once-in-a-lifetime occasion, especially since it falls during October National Niemann-Pick Disease Awareness Month!

Participating in the NNPDF Central Office Challenge and showing support for the many families coping with Niemann-Pick Disease is one simple way you can mark the day by making a positive difference. With just a few minutes of your time, you can help raise awareness and funding for all whose lives are affected and cut short by Niemann-Pick Disease.

Our 10-10-10 Challenge is to get 300 people to share information about Niemann-Pick Disease with 10 other people, via email, Facebook, Twitter, or other means (even via the hospitable old-fashioned way, face-to-face!).

Spreading the word about this rare disease is key to raising the essential funding for research which will find the treatments and cure we all work fervently toward, and to providing important family services for those who rely on us. Please, will you help us meet our goal? Click here for six easy ways you can help us meet this October Awareness Month challenge!

One decidedly FUN way to participate in October Niemann-Pick Disease Awareness Month is to shop the Online Auction! Bidding is now open! Bid high, bid often!

It's also not too late to donate items to the auction. Check out this page for more details, or contact the NNPDF Central Office.

As always, Thank You most sincerely for the continued love and support you give the families who deal with the challenges and heartbreak of Niemann-Pick Disease!

Wednesday, September 29, 2010

FDA Grants Clearance for Experimental Intrathecal Administration of Cyclodextrin

The FDA has granted clearance of an Investigational New Drug (IND) application for administration of Hydroxypropyl Beta Cyclodextrin (cyclodextrin) into the central nervous systems of two patients with Niemann-Pick Disease Type C.

The cyclodextrin will be given intrathecally (into the space under the arachnoid membrane of the brain or spinal cord), first via lumbar injection, and then into the brain’s ventricle system. Children’s Hospital & Research Center of Oakland, California, issued a press release, which can be accessed from the NNPDF's NewsLine page.

The NNPDF would like to note the following regarding cyclodextrin:

1. Cyclodextrin has shown promise as a potential therapeutic in animal trials. However, issues of toxicity have also arisen.
2. The NNPDF is aware that cyclodextrin is being used on a single-patient Investigational New Drug (IND) basis in the U.S. and in Brazil.
3. More research is needed to understand issues related to drug delivery, efficacy and safety.
4. The NNPDF will keep the NPC community apprised of developments regarding cyclodextrin.

Amy Dockser Marcus published this related article in her Wall Street Journal Health Blog on September 23.

For more information about cyclodextrin, cyclodextrin's orphan drug designation, a glossary of terms, and links to the FDA, please visit our cyclodextrin page.

Thursday, September 23, 2010

Cassandra Phillipa Stallard

Cassandra Phillipa Stallard (NPC)
May 30, 1989 - September 21, 2010

We are very sad to learn of the death of 21-year-old Cassie Stallard due to the effects of Niemann-Pick Disease Type C (NPC).

According to Cassie's mom, Trish, Cassie died peacefully in her sleep after a day enjoyed strolling on the beach and a trip to a favorite coffee house.

All our sympathy to the Stallards and their extended family and friends in their loss.

To learn more about Niemann-Pick Disease, please visit the National Niemann-Pick Disease Foundation Web site.

Wednesday, September 22, 2010

Online Auction Site LIVE! Your help is requested!

The NNPDF's Niemann-Pick Disease Awareness Online Auction site is now live and operational!

Please visit the NNPDF October Awareness Month Online Auction site now and see what we are cooking up for October 1st, when opening bids will be accepted.

New auction items are being added daily, and you can begin window shopping today! Some exciting items already posted include an autographed Brett Favre Minnesota Vikings jersey, a handmade quilt, authentic Chinese wall scrolls and masks, a DVD of the Super Bowl Champion New Orleans Saints, and gift cards from R.E.I. and Target.

The list is growing daily as families around the U.S. and Canada are busy making, collecting and donating items for this important event which will raise funds in support of family services programs and essential research into Niemann-Pick Disease.

Please Help!
Your participation is needed to help make this auction the huge success we know it can be!

Please think about what you and your family might donate to the auction. Popular auction items include handmade crafts and gifts, gift cards to nationwide retailers or service providers (restaurants, department stores, home improvement stores, hotels, bookstores, carpet cleaning, etc.), sports memorabilia, collectors’ items, vacation packages, tickets to sporting or theater events, jewelry, artwork, tools, etc.

Items may be donated by an individual/family, or donations may be solicited from your area businesses.

(Please, no glass or fragile items that may be damaged in shipping, no alcohol or firearms, and nothing that cannot be shipped or for which shipping costs would be prohibitive.) (Shipping costs will be the responsibility of the buyer, unless the donor elects to donate shipping costs.)

Auction to Feature State-Themed Baskets
One special feature of the NNPDF auction will be state-themed “baskets,” or “collections,” with items unique to a state or region. Examples might be non-perishable food items representative of a state or region, regional-flavor clothing or jewelry, professional or college sports memorabilia or tickets, souvenir/collectors’ items, etc.

How to Donate
Please let us know ASAP what you plan to donate for the auction, so we can post it to the site. Please complete the form available on the NNPDF Web site and send the form, together with a photo (jpg format if possible), to NNPDF Board Member/Development Committee Co-Chair Ryan Kelly.

Please do NOT send auction items to the NNPDF; items will be shipped directly from the donor to the winning bidder at the close of the auction (October 31st), with the buyer responsible for the cost of shipping. (Donors may choose to cover the cost of shipping, particularly for small or lightweight items which cost little to ship.)

Spread the Word!
Please email the link to the NNPDF October Awareness Online Auction Site to all your friends, family and acquaintances so they can get in on the fun and excitement, as well! This is a fabulous opportunity to raise significant funds for the Quest for a Cure, but we need your help in getting the word out.

Contact Us
Please feel free to contact the NNPDF Central Office with any questions you may have about the Online Auction. We look forward to working together with you on this exciting opportunity! Together, we can make a difference!

Friday, September 17, 2010

October is Niemann-Pick Disease Awareness Month!

October is the time to raise awareness about Niemann-Pick Disease!

We need to get the word out about this rare disease to doctors, families, government leaders and the general public.

We invite and encourage each family to look within their family structure, friends and community support networks to create their own team and sponsor an awareness campaign and/or fundraising event during October 2010.

The NNPDF has a wealth of experience and resources to support you in any fundraising/awareness project you'd like to undertake, from a simple "Persevere" wristband sale or a "Family and Friends" letter, up to an all-out gala or golf tournament. Take a look at what other NNPDF families are cooking up for October.

One easy and effective way to support the foundation's goals of research into treatments and a cure, and to support families affected by Niemann-Pick Disease, is to participate in this October's Online Auction as a donor and/or a buyer.

It’s a win-win-win situation – the winning bidder gets a great deal on something they like with the added satisfaction of knowing their money is supporting a favorite cause, while the donor has a great feeling knowing their gift will go far to help families affected by NPD. Best of all, the NNPDF is able to use the proceeds to diligently advance our mutual Quest for a Cure!

There are three ways you can help us make this auction a big success: donate an item(s) for auction; bid on auction items; and spread the word to all your family and friends so they can bid, too! (Please visit our Web site for all the details.)

We are busy getting our auction site set up so you can start to "window shop" the items up for sale. Please check the foundation's Online Auction Web page next week for a link to the auction itself. And we hope to hear from you soon regarding what you might be able to donate for this exciting new fundraising opportunity!

As always, Thank You for your continued support! Together, we can make a difference!

Tuesday, September 14, 2010

2010 Pentchev Research Fellowships Announced

The NNPDF is pleased to announce the recipients of the 2010 Peter G. Pentchev Postdoctoral Research Fellowships!

The research projects of Dr. Nicholas Cianciola of Case Western Reserve University, and Dr. Dorothea Maetzel of the Whitehead Institute for Biomedical Research, were selected through an application process which included reviews by the members of the NNPDF's Scientific Advisory Board (SAB).

Dr. Dan Ory, Chair of the NNPDF's Scientific Advisory Board summarized the two selected projects:

1. Nicholas Cianciola - "Activation of an alternative cholesterol homeostatic mechanism in NPC"
Dr. Cianciola’s project builds upon an exciting observation he made while a graduate student and will explore the role of a viral protein in facilitating movement of cholesterol from lysosomes. The research has the potential to identify new therapeutic targets to stimulate release of cholesterol from lysosomes in the absence of a functional NPC1 protein.

2. Dorothea Maetzel - "In Vitro modelling of Niemann-Pick type C Disease Using Patient-Specific Induced Pluripotent Stem Cells"
Dr. Maetzel’s project will lead to development of pluripotent stem cells from human NPC mutant fibroblasts. The stem cells will then be used for high throughput assays to identify small molecules that can correct the cholesterol accumulation in the NPC cells. Development of these cell lines will allow allow testing of whether the genetic defect can be corrected in the stem cells, which could have therapeutic potential.

For more details, including links to the two researchers' Lay Summaries, please visit the National Niemann-Pick Disease Foundation's Latest Research page.

Congratulations, Dr. Cianciola and Dr. Maetzel! Thank you for your work in advancing Our Quest for a Cure!

Tuesday, August 31, 2010

Sarah Elisabeth Glassman

Sarah Elisabeth Glassman (NPA/B)
Jan. 30, 2007 - Aug. 30, 2010

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 ( or the National Niemann-Pick Disease Foundation.

Monday, August 30, 2010

Aaditya Michael Dasgupta

Aaditya Michael Dasgupta (NPC)
Feb. 15, 2001 - Aug. 12, 2010

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 NNDPF member Duriya Lakdawala of Michigan.

A funeral mass was held on Saturday, August 14.

Our deepest sympathy to Aaditya's family and many friends.

To learn more about Niemann-Pick Disease and to join our Quest for a Cure, please visit the National Niemann-Pick Disease Foundation's Web site.

Friday, August 27, 2010

Carnival Raises Funds in Memory of Karen Sullivan

Jason, Sarah and Abby Sullivan, ages 10, 7 and 5, respectively, organized and held a backyard carnival to raise funds for the NNPDF in memory of their aunt, Karen Sullivan, who died in 2004 as a result of Niemann-Pick Disease Type C (NPC).

After several weeks of planning, the children made signs and posters to advertise and invite their friends and neighbors to come for games, prizes, and food.

The whole family got involved as one grandma made funnel cakes and another ran the bean bag toss, while the two grandpas ran the golf game and served as the event photographer. The late-summer heat wave even broke in time for a perfect evening, and the neighborhood was very supportive, raising almost $500 for the fight against NPD!

Jason, Sarah and Abby are the children of Kevin and Jean Sullivan and the grandkids of Art and Nancy Sullivan of Chesterfield, Missouri. Nancy recently retired from the NNPDF Board of Directors and Art serves on the NNPDF's Finance Committee.

Thank you, Jason, Sarah and Abby, and the entire Sullivan family!

To see more photos from the carnival, and to read about other family fundraisers advancing the Quest for a Cure, visit the NNPDF's Upcoming Events page.

Friday, August 13, 2010

Princess Monica Celebrates First Birthday!

The 18th Annual National Niemann-Pick Disease Family Support and Medical Conference was held August 5th through 8th, in Toronto, Canada.

One of many highlights of the conference was the "Princess Party" held in honor of the first birthday of Monica Taillefer, daughter of Heather Patenaude-Taillefer and Simon Taillefer of Quebec.

The party was complete with a tiara for Princess Monica, crowns for all the kids, cake, of course, and special appearances by Cinderella and Snow White.

For more conference details and a link to see dozens of great photos from the event, visit the NNPDF NewsLine page.

Friday, July 9, 2010

Promising Therapies for NPC

"Promising Therapies for Niemann-Pick Type C Disease"
NINDS 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 in Rockville, Maryland, June 3-4.

Visit the NNPDF's Latest Research page to read the presentation abstracts from this important conference.

Thursday, July 1, 2010

Emily Jane Hrbacek

Emily Jane Hrbacek
July 15, 1999 - July 1, 2010

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.
To learn more about Niemann-Pick Disease, visit the National Niemann-Pick Disease Foundation (NNPDF) Web site.

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

Thursday, May 27, 2010

Joseph James Colton

Joseph James Colton
May 18, 2005 - May 19, 2010

It is with great sadness that we pass along news of the passing of little Joseph Colton, the son of James and Alexa Colton of Florida. Joseph James Colton, 5 years old, passed away on Wednesday, May 19th due to conditions resulting from Niemann- Pick Disease Type A/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.
For more information about Niemann-Pick Disease, please visit the NNPDF Web site.

Tuesday, May 25, 2010

Ironman Competitor to Raise Funds for Niemann-Pick Disease!

Ironman Mike Smith of Florida will compete in the Ford Ironman Triathlon in Coeur d'Alene (Idaho)on Sunday, June 27, to raise money and awareness for the National Niemann-Pick Disease Foundation.

The triathlon is the ultimate test of strength, endurance and determination, consisting of swimming 2.4 miles, biking 112 miles, and running 26.2 miles. An Ironman certainly embodies the NNPDF motto -- "Persevere!"

Mike's fundraising goal is $3,000 and he hopes to raise enough to qualify for a Janus matching fund donation, as well. Visit Mike's page to make a donation and read more about his motivation -- his vivacious wife, Annie OConnor-Smith, who is affected by Niemann-Pick Disease Type B.

Visit the National Niemann-Pick Disease Foundation's Web site to learn more about Niemann-Pick Disease and how you can help advance our Quest for a Cure!

Friday, May 21, 2010

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 the NNPDF's cyclodextrin page for a bit of background and glossary terms that will help you to understand this latest development.

Thursday, May 20, 2010

18th Annual NNPDF Family Support and Medical Conference

Register now for the National Niemann-Pick Disease Foundation's 18th Annual Family Support and Medical Conference, scheduled for Thursday, August 5th through Sunday, August 8th, 2010!

This year's conference will be held in Toronto, Ontario, Canada, co-hosted by our sister chapter, the Canadian Chapter of the National Niemann-Pick Disease Foundation.

The NNPDF Family Conference is your best opportunity to learn the latest information about Niemann-Pick Disease directly from the eminent experts in the field, including physicians, researchers and scientists.

You will also meet, make friends, and have fun with many other families who are facing the challenges of NPD. We promise, you will remember forever the family connections you make at the Family Conference.

Family Conference registration packets were mailed out to NNPDF and CCNNPDF members last week. If you did not receive a packet, contact the NNPDF Central Office, or access the registration packet via the Family Conference page of the NNPDF Web site.

The Family Conference page is chock-full of information about the conference, including a conference schedule-at-a-glance, international travel tips, hotel reservation info, etc.

The deadline for registration is July 1st, so don't delay! Mark your calendar for Toronto, and start making plans to attend.

Thursday, May 13, 2010

"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.

For more information, including the tentative agenda, travel and lodging information and a link to register, please visit our NewsLine page.

Friday, April 30, 2010

23-Month-Old Succumbs to Niemann-Pick Disease Type A/B

Caileen Harley Harrison (NPA/B)
May 7, 2008 - April 19, 2010

We are very saddened to pass along word of the death of little Caileen Harley Harrison, just short of her second birthday, due to complications of Niemann-Pick Disease Type A/B. Caileen was the daughter of NNPDF member Valerie Montgomery and Collis Harrison of California.

Kelly Puente of the Long Beach California Press-Telegram filed a story earlier this week about Valerie and Caileen. Caileen brought her family great joy despite her struggle with Niemann-Pick Disease. Visit the NNPDF NewsLine for a link to the Press-Telegram story and more photos.

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

[photo credit: Brittany Murray/Press-Telegram]

Thursday, April 22, 2010

Join us in Toronto August 5 - 8, 2010!

Mark your calendar and start planning your trip! The National Niemann-Pick Disease Foundation's 18th Annual Family Support and Medical Conference will be held in Toronto, Ontario, August 5th - 8th, and we want YOU to join us there!

We are so excited about this first-ever international conference, co-hosted by our sister chapter, the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF). We have already heard from several families from other countries that they plan to join us for this conference, and we expect an excellent turnout from the NPD scientific community.

We are planning a conference chock-full of information, inspiration and fun for families affected by Niemann-Pick Disease. This is your opportunity to hear the latest in NPD research directly from the eminent doctors, scientists and researchers in the field. You will have ample opportunities to meet and network with other families facing similar challenges, and you will take home friendships and memories that will last a lifetime!

Visit our Web page for all the details about our conference, travel tips, a link for hotel reservations, conference registration forms, and more. Be sure to check back often, as we are updating conference information almost daily.

Complete registration packets will also be mailed to all NNPDF and CCNNPDF member families in May, so be sure to let us know if your mailing address has changed.

Conference attendees from outside Canada, including the U.S., will need passports, so dig yours out and make sure it is still valid, or go apply for one ASAP, and start making your travel arrangements today. There are some great airfares out there, and for some, the train or bus may be even more reasonable options.

Please contact us if you have any questions about this year's Niemann-Pick Disease Family Support and Medical Conference, and we hope to see you in Toronto!

Thursday, April 1, 2010

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.

For more details, click here.

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