Wednesday, November 26, 2014

Happy & Safe Thanksgiving Greetings from the NNPDF!


Dear NNPDF Families and Friends,

The National Niemann-Pick Disease Foundation would like to send everyone wishes for a safe and happy Thanksgiving.

Time and again, our NPD families have shown that, despite the challenges faced, they give thanks for all the opportunities which arise from those struggles through Perseverance, as only NPD families can.

We are very thankful for your continued support and that you allow us into your lives, where we hold you close in our thoughts and our hearts year round.

Best wishes to all for a warm and love-filled Thanksgiving holiday,

~ The Board Members and Staff of the NNPDF

Tuesday, November 25, 2014

"NNPDF Participates in Giving Tuesday" ~ News Article

Dear NNPDF Families and Friends,

As we continue with our #GivingTuesday campaign, our local newspaper, the Jefferson Daily Union released an article detailing the Foundation's efforts to raise awareness and funds for Niemann-Pick Disease programs on December 2nd, 2014!

The article, written by Pam Wilson, details not only what the intent behind the #GivingTuesday campaign is in general, but why the Giving Tree was the decided theme the NNPDF developed for this year.

Read the article here:


We would like to encourage our friends and families to help raise funds this #GivingTuesday by making their year-end donation online on December 2nd, 2014 to earn matching funds via

Monday, November 24, 2014

Follow us on Twitter and Facebook!


Dear NNPDF Families and Friends,

Our goal is to open up further avenues of communication between the NNPDF Central Office and all those battling with Niemann-Pick Disease, whether family, friend or patient. With the majority of day to day interactions occurring via smart phones and tablets, it makes the most sense that communities are turning to social media web sites for news and other media outlets due to their popularity and ease of use. 

We would like to encourage our NNPDF community to follow us on Twitter and Like us on Facebook so you are ensured to receive accurate and timely posts with the most recent NPD related news and clinical trial updates. Share our pages with your own followers and help our NPD community and families to reach a larger audience.

It is our hope that as we expand in the social media networks the NNPDF and our family membership will benefit by raising awareness and promoting online giving in support of our programs and research. In addition, it is our goal that families diagnosed in the future, who may not know where to turn, can more readily find their way into our unique and supportive community. 

Join/Like us on Facebook:

Follow us on Twitter:

CNN Article & Video ~ "Could a Form of Sugar Treat Deadly Niemann-Pick Disease?"


Dear NNPDF Families and Friends,

"Hugh & Chris Hempel have two young daughters who suffer from a rare disorder, called Niemann-Pick Type C. Patients struggle with movement, gradually lose the ability to speak and eventually the ability to think. But Hugh and Chris have never given up on looking for a cure.

Visit the NNPDF Newsline web page for links to the November 22nd, 2014 article and the full report shown in a CNN TV spot on Sanjay Gupta, M.D the same day.

Friday, November 21, 2014

Simple Ways To Raise Awareness on #GivingTuesday ~ 2014

Dear NNPDF Families and Friends,

Are you interested in learning simple ways you can support your loved ones this #GivingTuesday?


Tuesday, November 18, 2014

NNPDF November 2014 E-Newsletter Now Available


Dear NNPDF Families and Friends, 

Highlights include:
  •  NNPDF Giving "Tree" Tuesday
  •  Genzyme's "Expression of Hope" Art Contest
  •  November 2014 ~ National Family Caregiver's Month
  •  NPD Type C in Connection to the Ebola Virus 

ALERT: Let us Help You Raise Awareness into Niemann-Pick Disease with Custom Facebook Graphics created specifically for you and your loved ones!

While GivingTuesday isn't until December 2nd, the NNPDF is working to get an early start on raising awareness across its websites, social media links & within the NPD community.

How can you get involved? It's simple! Request a custom Facebook cover and profile graphics to help raise awareness on your social media pages leading up to GivingTuesday!

For instructions on how to request a custom Facebook cover or profile picture:

Friday, November 14, 2014

NNPDF Giving "Tree" Tuesday Custom Facebook Covers and Icons


Dear NNPDF Families and Friends,

With Thanksgiving right around the corner, it also means Black Friday and Cyber Monday are not far behind. Sometimes we can get caught up in the hustle and bustle of these retail days and forget that the holidays are not about the best deals you can get, or even the gifts themselves. It's about giving of our time and our love to those dearest to us. For this, there is GivingTuesday on December 2nd, 2014. 

GivingTuesday was created by the United Nations and 92Y in 2012 and is a national day of giving to kick off the holiday giving season, which takes place on the first Tuesday following the Thanksgiving, Black Friday and Cyber Monday shopping madness. Volunteering, making donations, or even paying forward a kindness you were shown are only a few of many ways you can participate.

The NNPDF, wanting to raise awareness, as well as, honor all those with Niemann-Pick Disease and their families, have put together our Giving "Tree" Tuesday campaign. Every Tuesday and Friday leading up to December 2nd, we will highlight ways in which to give back this holiday season.

We've also created custom Facebook covers & icons for both our US and Canadian families to help spread awareness leading up to December 2nd! These graphics were made to the exact Facebook dimensions and specifications to fit your profile cover and icon.

To view the Facebook covers/icons and instructions on how to request them, visit the NNPDF Giving "Tree" Tuesday web page:

Thursday, November 13, 2014

CBS News ~ "Twins with Rare Genetic Disorder Could Hold Clue to Cure for Ebola"

Hempel Twins

Dear NNPDF Families and Friends,

With the world's eyes currently on the Ebola topic, as well as the interest in how the NPC1 gene could help to develop a cure for it, more news coverage is being released.

CBS News published an online article on November 12th that discusses how current research may lead to the development of drug that uses NPC1 to stop an Ebola infection.  It also follows the Hempel families journey and how the disease they have been fighting for 8 years could prove beneficial in saving lives.

Tuesday, November 11, 2014

NNPDF #GivingTuesday ~ December 2nd, 2014


Dear NNPDF Families and Friends,

#GivingTuesday is a global day dedicated to giving back. On Tuesday, December 2, 2014, charities, families, businesses, community centers, and students around the world will come together for one common purpose: to celebrate generosity and to give.

It’s a simple idea. Just find a way for your family, your community, your company or your organization to come together to give something more. Then tell everyone you can about how you are giving. Join us and be a part of a global celebration of a new tradition of generosity.

The National Niemann-Pick Disease Foundation and its Canadian Chapter are working on a global #GivingTuesday campaign to raise optimal awareness and funds in 2014 for NPD programs.  It all begins with our Persevere for Life Tree, or in this case, our NNPDF Giving "Tree" Tuesday.

Stay tuned to learn about matching fund opportunities for donations made to the NNPDF on Giving "Tree" Tuesday, December 2nd, 2014 and through year end.

Visit the 2014 NNPDF Giving "Tree" Tuesday web page for more details:

Thursday, November 6, 2014

Genzyme Clinical Trial Update ~ Safety and Tolerability of Within-Patient Dose Escalation

Dear NNPDF Families and Friends,

During the 2014 Annual Meeting of the American Society of Human Genetics (ASHG), held from October 18th-22nd in San Diego, California, Dr. Melissa Wasserstein M.D. was honored to give a presentation on the results of the safety and tolerability of the enzyme replacement therapy (ERT) 1b clinical trial being funded by Genzyme, a Sanofi Company. 

The key information noted within the abstract was that: “The dose escalation regimen was well tolerated, with all patients reaching the maximum dose of 3.0 mg/kg. No serious or severe adverse events or deaths were reported. Related AEs consisted predominantly of infusion-associated reactions, the majority of which were mild and resolved without sequalae. A positive response to treatment with rhASM was observed in liver sphingomyelin content and several exploratory efficacy parameters, including spleen and liver volumes, pulmonary function testing, lung imaging, lipid profile, and quality of life assessments.” 

Click here to review the abstract from the presentation:

Wednesday, November 5, 2014

NPC vs. Ebola ~ Q&A with Dr. Daniel Ory

Dear NNPDF Families and Friends,

Due to the amount of interest surrounding Ebola and NPC, which has been directed to the NNPDF Central Offices, we reached out to Dr. Daniel Ory, past NNPDF Scientific Advisory Board Chair, with a request to further clarify some of the inquiries that were received.  We hope that the following Q & A segment with Dr. Ory helps to offer better insight to the Niemann-Pick Disease (NPD) community about these findings and how it may affect your loved one diagnosed with NPD.

In addition, we have created a web page dedicated exclusively to this topic, provided previously published research papers, and will support future updates as they become available.

Visit the NPD Type C in Connection to Ebola web page for the full Q&A:


Tuesday, November 4, 2014

Bryce A. Bigler (NPA) 08/29/2012 ~ 10/19/2014

Dear NNPDF Families and Friends,

It is with profound heartbreak that we inform our NPD community that Bryce Bigler (Age 2, NPA) beloved son of Cortney Showalter & Matthew Bigler, lost his battle with Niemann-Pick Disease type A. This courageous little boy passed away surrounded by love and family at home on October 19th, 2014.

Bryce’s family shared that he was a loving, happy, precious baby boy whose smile could light up a room. At his tender age of two years, Bryce was wise beyond his years, and didn't want to be treated differently because of his disease.

His love and passion for fire trucks offered him so many wonderful opportunities to reach out past his family and connect with Fire departments in his community.  Little Bryce was bestowed, by several local fire departments, with the honorary titles of Chief, Lieutenant and Paramedic.

While all of our hearts are broken for Bryce and his family for his short time on this earth, we also stand in awe of all this “little man” accomplished in the time he was given. He is an inspiration to all who knew, loved and would ultimately come to love him at first meeting and be pulled in deeper with a flash of his happy grin!

The NNPDF would like to extend our thoughts and hearts out to Bryce's family at this time.  When times seem their very darkest, sometimes all it takes to find the calm after the storm is a guiding hand and a comforting shoulder to lean on. 

If you would like to read Bryce's beautifully written on-line obituary, visit the NNPDF Newsline web page:


Monday, November 3, 2014

Bradley Greg Mackie ~ 07/22/1960 - 07/31/2014


Dear NNPDF Families and Friends,

The NNPDF was so sorry to learn that Bradley Greg Mackie lost his battle with adult on-set Niemann-Pick type C on August 31st of this year.  Nine days prior to his death, all his family, friends and those who held him dear, gathered to celebrate with Brad as he marked his 54th birthday. In the end, he is remembered by those who loved him deeply, including his brother Bart who is also facing the day-to-day struggles associated with NPC.

Brad was featured in our October Awareness Month in 2013, regarding adult NPC. We shared a video of him in a quiet moment with his loyal companion Dusty.

His mother, Lynne Lambright, shared the following loving thoughts of her son:

"He was beautiful, strong, kind and brave.  Brad never once complained about anything; a true statement to his character.  He deserves to be honored for his long fight with NPC".

To view the full post, visit the NNPDF Newsline web page:

Wall Street Journal ~ Researchers Study Ebola Link to Gene in Rare Disease ~ Niemann-Pick Type C


Hugh and Chris Hempel (parents of Addi and Cassi (NPC) donating to Coriell Science biobank
to further research in connection to Niemann-Pick Type C & the Ebola virus.

Dear NNPDF Families and Friends,
Right on the heels of October 2014 as GLOBAL Niemann-Pick Disease Awareness Month, a news article has been posted in the Wall Street Journal highlighting the unique connection between NPD Type C and Ebola. Wall Street Journal Medical writer, Amy Dockser Marcus, who previously wrote an in-depth article on the Hugh and Chris Hempel family, their twin daughters, Addi & Cassi and their journey with NPD Type C, brings the research around full-circle.

Hugh Hempel noted, "In 2009 we donated our cells (a little punch biopsy under our arm) to a non-profit bio-bank in order to make it easier for scientists to research NPC. Never imagined that Ebola researchers would take our cells and use them to discover that our RareDisease could enlighten a treatment for Ebola... Check out the Wall Street Journal Article about this amazing connection."

The members of the NNPDF Scientific Advisory Board have indicated for years that the NPC gene is so very complex and likely holds the key to answers for a wide array of diseases and illnesses.

To see a WSJ Health & Science Video and to read more about this finding in the Wall Street Journal article~ click here:

**For anyone attempting to view the article, it seems that it has now been locked to those without a paid subscription to the Wall Street Journal. If you have a subscription, you should have no issue viewing the article.

For those who don't have a WSJ paid subscription, the article has been reposted here:

To view the accompanying article video, visit the Newsline:

Kind thanks to the Hempel family and Amy Marcus for continuing to keep NPC in the focus of researchers and the medical community.

Nadine Hill, Executive Director
National Niemann-Pick Disease Foundation ~