December 2018 Newsletter
Message from the Executive Director | 2018 Memorials
Clinical Trial Updates | Community News Update
In the Spotlight | Family Connections Chats
Save the Date – 2019 Family Conference!
Shop and Support the NNPDF | NNPDF Equipment Exchange
Stay Connected With Us
Dear Friends and Families,
In 2018 we lost six members of our community to Niemann-Pick disease, three of whom were young children. Although the future is hopeful thanks to multiple clinical trials in progress along with an exponentially increasing understanding of NPD and lysosomal storage diseases, this is still six too many losses for our community. The NNPDF is committed to work even harder in the New Year to fulfill our mission to help families in all stages of their Niemann-Pick journey through our family services and advocacy programs. We envision a future where Niemann-Pick disease is no longer a fatal rare disease and we will continue to work on your behalf to reach this goal.
As the year ends, I want to thank you for welcoming me into this unique community and for your phone calls, emails, shared ideas, and support over the past 6 months that I have been your Executive Director.
I am hopeful for 2019 and the progress that we will see in science, research, and innovation by our pharmaceutical industry partners. I’m excited to share positive program additions with you in the coming year including important community advocacy initiatives, more Family Service programming such as our new Family Connection Chats, and our webinar series. I am excited at the prospects that our community-owned patient registry, the INPDR, will bring towards timely diagnosis, understanding of disease progression, and research efforts. I am also excited to announce that a new look and logo is coming to NNPDF for the New Year!
For many, the holidays are a festive time but they can also be a very difficult time. The NNPDF is here for you if you need a resource or just need to talk.
Wishing you a Happy New Year,
Joslyn Crowe, MSW, MA
NNPDF Executive Director
As 2018 comes to an end please join the NNPDF in keeping all of our families in our thoughts now and throughout the year.
Update from CTD Holdings, Inc.:
CTD Holdings to present at WORLD Symposium on lysosomal storage diseases. Click here for complete announcement.
Update from Mallinckrodt Pharmaceuticals:
Mallinckrodt response to VTS-270 Q & A and video message to community. Click here for details.
Update from Orphazyme:
Orphazyme expects to announce results of full data set for Niemann-Pick Disease Type C (NPC) Phase II/III trial in Q1 of 2019. Click here for complete announcement.
The NNPDF posts new information regarding clinical trial updates as soon as it is received. Please review our Clinical Trial Update procedure for alerting you to these updates as they are made. READ MORE
Announcement: IntraBio receives Niemann-Pick Disease orphan drug designation from the FDA for IB1000 series. Click Here for complete announcement.
NNPDF Board Member and Mother of Dillon (2002 – 2017 NPC)
What was your first exposure Niemann-Pick disease?
Like many NPC families, we had to go through a long series of misdiagnoses before learning of the actual, life-changing diagnosis. Initially, when Dillon was 6 weeks old we were told it was just a case of newborn jaundice or simple reflux, which would resolve itself. After a blood test indicated abnormally high direct bilirubin, we were told his condition was more serious and they suspected biliary atresia. During a long stay at the hospital of invasive medical testing, the liver biopsy resulted in a neonatal hepatitis diagnosis. After years of endless doctor appointments, a bone marrow, second liver biopsy and skin culture were conducted. The Filipin test results confirmed the heartbreaking fatal NPC diagnosis just as Dillon celebrated his third birthday. Tragic as all this was, I am now encouraged by the prospect of newborn screening, so that other children will not be subjected to risky and painful biopsies and parents will not have to endure the long emotional wait for results.
What were the first steps you took after diagnosis?
Soon after the NPC diagnosis in 2005, we were fortunate that Dr. Marc Patterson, who was the principal investigator of the Miglustat Clinical trial, saw Dillon. Although the results of the study had not yet been published, and the drug considered experimental, the geneticist at Johns Hopkins, who ultimately made the NPC diagnosis, worked with us to administer Zavesca by following Dr. Patterson’s trial protocol. Shortly thereafter, we enrolled our son in the NIH Natural History and NAC Biomarker Validation Studies. As a result, the collection of data provided insight and identified promising biomarkers that laid the groundwork for the NIH FDA Cyclodextrin Clinical trial. We were thankful that Dillon met the criteria and was approved as the second participant for the Ommaya reservoir placement and the first to receive the intrathecal lumbar puncture in the Cyclodextrin trial.
How did you learn about the NNPDF?
Through innumerable hours of web-based research on NPC, we discovered the National Niemann-Pick Disease Foundation. Much to our surprise, for a little known, ultra-rare disease, there were a number of families in situations just like ours; who banded together to gather information, offer support, and fund research in hope to accelerate a cure/treatment. Fourteen years later, we are eternally grateful for our relationship with all those involved in the Foundation and their continued dedication and commitment to the NPD community. A noteworthy mention for my appreciation to the original six families that formed the Foundation and Scientific Advisory Board all without resource of the internet and social media.
What caused you to get involved with the NNPDF initially and what led you to become a Board member?
In our eagerness to support much needed research, we began fundraising, hoping to discover new and better treatments for this complicated disease. This led to my participation as a member of the Research Committee, and my growing commitment to the Foundation. I was honored to be asked to join the Board and am grateful to be a small part of the tremendous medical progress that has been made over the past decade through NNPDF collaborations.
What changes have you seen in the Niemann-Pick environment over the past 5 years?
I think there has been a huge leap in disease awareness generally, including NPD, which has led to a vested interest by pharma, multiple clinical research trials, as well as new treatment options that were not available a few short years ago. The current development of an International Niemann-Pick Disease Patient Registry will contain data that under the direction of the NPD community will be a powerful tool in finding a cure. As challenges present themselves, our organization continues to excel in meeting the needs of NPD community.
What are your hopes for the future for yourself and for the Niemann-Pick community?
In return for the compassion extended to my family on behalf of Dillon, I hope to be a source of personal support to incoming families new to the community. I also wish to continue contributing to services and medical research through the promotion of Niemann-Pick awareness and aggressive fundraising. Through my position on the Board, I hope to bring positive change through community growth, unity, and partnerships, and, most of all, to improve the quality of life for those affected by this devastating disease.
Mark your calendars for the following dates in January for our NNPDF Family Service Connections Chats! Space is limited so register early! Discussions are limited to 6 participants and held by private video link. To register contact email@example.com.
Who Is On Your medical Team? Who’s the Captain?
Wednesday, January 16th
8:00 pm EST/5:00 pm PST
Sharing Your Diagnostic Journey
Wednesday, January 30th
8:00 pm EST/5:00 PST
The NNPDF Equipment Exchange program assists those who wish to donate pre-owned equipment to others who may be in need. Click here to check out all items available. If you have any questions or an interest in any items, please contact the NNPDF at firstname.lastname@example.org.
The NNPDF would like to offer our sincere thanks to Discount Ramps for their generosity and kindness this year in donating and shipping equipment to NPD families to help in their NPD journey. We appreciate all they have done.
Support the NNPDF while you shop this holiday season! AmazonSmile is a simple and automatic way for you to support the NNPDF every time you shop, at no cost to you. Click here for more information!
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