July 2020
NNPDF Family Support & Medical Conference Recap
Thank you to the 290 participants who joined us for this year’s virtual conference weekend! Our speakers, break out session leaders, and family members came together for learning, sharing, and dialogue – kicked off with a keynote address by Dr Kathleen Donohue, Acting Director, Division of Rare Diseases and Medical Genetics (DRDMG), Office of New Drugs, US Food & Drug Administration.
We stayed connected through the new NNPDF app, celebrated our Persevere Award and Endurance Award winners, and honored the memory of the loved ones we have lost this year.
To view our special conference videos and session recordings CLICK HERE.
NNPDF Family Support & Medical Conference Recap
Thank you to the 290 participants who joined us for this year’s virtual conference weekend! Our speakers, break out session leaders, and family members came together for learning, sharing, and dialogue – kicked off with a keynote address by Dr Kathleen Donohue, Acting Director, Division of Rare Diseases and Medical Genetics (DRDMG), Office of New Drugs, US Food & Drug Administration.
We stayed connected through the new NNPDF app, celebrated our Persevere Award and Endurance Award winners, and honored the memory of the loved ones we have lost this year.
To view our special conference videos and session recordings CLICK HERE.
NNPDF Health Insurance Survey
YOUR VOICE MATTERS!
NNPDF is conducting a survey of the U.S, Niemann-Pick disease community to further understand the patient and healthcare provider experience in Niemann-Pick as it relates to health insurance knowledge, coverage, as well as the challenges experienced by patients and their families pertaining to access of medications, services and devices.
Who can participate? Niemann-Pick patients 18 years of age and older or their parents. This is not the full list of eligibility criteria. Find out if you qualify and get more information on this study by visiting Understanding Health Insurance Literacy and Challenges in Accessing Health Services in Niemann-Pick disease Through the Eyes of Patients and Families.
A $100 honorarium is available to participants.
Why is this important? This important survey will identify health insurance usage, access, and barriers across the country. The survey will also allow us to better understand where the community may need more tools or assistance in understanding the complexities of health insurance. The data gathered from this national survey will provide a credible quantitative platform for NNPDF when speaking with legislators, key opinion leaders, and media about access to medications, pricing, economic impact, or legislative reform. This is the most comprehensive survey of the Niemann-Pick health insurance landscape to be conducted in the U.S.
Learn more here.
Question? Contact Joslyn Crowe, Executive Director.
NNPDF Community Mobile App
The NNPDF Community app is now live! Use the Community section of the app to keep you connected to NNPDF friends & families and to stay up to date on our latest news – Download it today to your smartphone or tablet!
This interactive tool was used during the Family Support & Medical Conference and we’ll continue to add programming and content throughout the year.
The NNPDF Community Mobile App is available through the App Store and on Google Play.
After the app is installed, enter your email address and create your profile.
Save the Date!
NNPDF – INPDA Global Family Support & Medical Conference
MARK YOUR CALENDARS! The 2021 NNPDF – INPDA Global Family Support & Medical Conference will be held July 29 – August 2, 2021 in Orlando, Florida at the Wyndham Grand Orlando Resort Bonnet Creek. Registration and hotel information to follow.
Family Journeys Blog
Welcome to our new Family Journeys Blog! Follow 4 NNPDF families from across the country as their share monthly updates to brings some light and positivity to our community! Our blogger families share personal, uplifting, hopeful stories to show what it means to be living with Niemann-Pick disease and the brighter sides within our community. Check out the blog!
ASMD Survey Opportunity
RTI Health Solutions is recruiting certain types of patients with Niemann-Pick ASMD, type A/B or type B. Click here to learn more about this survey or to find out if you are eligible contact Andrew Fox at RTI Health Solutions at 919-541-1274 or afox@rti.org.
Newborn Screening Initiative Presents at NNPDF Annual Family Conference
Firefly Fund’s NPC Newborn Screening Initiative had the opportunity to deliver a presentation at this year’s NNPDF Family conference, updating participants on the latest activities with this important community activity. We focused on two research initiatives: 1) the ScreenPlus pilot newborn screening study is making final preparations to launch in the state of New York, amidst the covid-19 pandemic; and 2) the NPC Sibling Study, being conducted in collaboration with a research entity called RDMD, to compare health outcomes of NPC-affected siblings based on timing of initiation of treatment. You can check out the presentation here. The Initiative also hosted its third quarter Working Group call in July. We welcomed researchers from RDMD to discuss the sibling study in greater detail. They outlined the development of recruitment materials that are in the final stages of preparation. As soon as these are ready to go, Firefly and other Working Group participants like NNPDF will be sharing these with the NPC community so we can encourage families to participate. The research – with a study protocol being developed by leading NPC clinicians Drs. Elizabeth Berry-Kravis, Marc Patterson, and Denny Porter – will go a long way to helping the NPC community to demonstrate the impact and importance of intervening earlier in disease progression to improve health outcomes for people affected with NPC.
INPDR Update
Firstly, the INPDR would like to take this opportunity to congratulate the NNPDF team on a fantastic conference.
It was wonderful to connect with so many families and hear your stories. Thank you to everyone who attended the INPDR presentation and the Meet & Greet – it was encouraging to see so many interested in finding out more about the INPDR.
Through our conversations during the conference, we have identified some areas to continue working on, particularly for those patients whose care is not being provided through a specialist clinical care centre. We’d really like to keep the conversation going and will be considering the future in supporting these patients and their clinician to contribute to the Clinician Reported Database (CRD).
In the meantime, there is still an opportunity for those patients to contribute through the Patient Reported Database (PRD) and it is wonderful to see many patients and their families taking this action. Your experiences are so vital to our work and progress for the global Niemann-Pick disease community.
Those of you who signed up to the PRD before the system was migrated and upgraded should have recently received emails asking you to reactivate your accounts so your data can continue to make a valuable contribution to progress and research. The INPDR is grateful for everyone who has been able to do this – if you haven’t had a chance yet, there’s still plenty of time.
During the NNPDF Conference we were asked about security of data during the migration and upgrade process so we’d like to reassure patients and their families that the INPDR continues to maintain the highest standards of data security to protect your and your family’s privacy.
If you have any other questions about reactivating your account or signing up to the Patient Reported Database (PRD), please get in touch on info@inpdr.org – we’re always happy to help!
Once again, thank you to the organisers of the NNPDF Family Support & Medical Conference – such a successful event despite the undisputed challenges.
In these unprecedented times, it is amazing to see that the drive, commitment and support within the Niemann-Pick community continues to grow from strength to strength.
We look forward to next year and the opportunity to meet with you all face-to-face.
Shared Journeys: Unaffected Siblings Group
This is the first installment of NNPDF’s Unaffected Sibling Interview Series. This series will highlight the unique experiences that unaffected siblings in the Niemann-Pick community go through. Our unaffected siblings experience life with Niemann-Pick disease from a unique perspective and have special insights into the journey.
Interview with Serina Heinze
by Miranda Feinberg, NNPDF Intern
Our first interview is with Serina Heinze, age 20, who lost her older brother Tyler and younger sisters Katie and Faith to NPC. We spoke with Serina over the NNPDF Conference weekend. Serina is an inspiration within the Niemann-Pick community and leader within our Unaffected Siblings Group.
READ INTERVIEW HERE
Update PALS: Patient Airlift Services
PALS is flying again! The decision to pause their missions due to COVID-19 was a very hard one to make. Now after careful consideration, PALS is beginning to resume select missions again! CLICK HERE to learn more.
Clinical Trial Updates
Clinical trials are currently in progress to study and develop treatments for ASMD and NPC. The NNPDF posts new information regarding clinical trial updates as soon as it is received. Visit our Clinical Trials web page for up to date information on all clinical trials.
Update from Cyclo Therapeutics:
A message from Cyclo Therapeutics to the NPC Community. Click here for complete announcement.
Update from Mallinckrodt Pharmaceuticals:
Please take a moment to read the following important announcement from Mallinckrodt Pharmaceuticals in regard to the clinical trial of Adrabetadex for NPC-1. Click here for complete announcement.
Update from Orphazyme:
Orphazyme completes rolling submission of New Drug Application to U.S. FDA for arimoclomol for Niemann-Pick disease Type C. Click here for complete announcement.
Update from Sanofi Genzyme:
Sanofi Response to ASMD Community in the US: In response to NNPDF’s inquiries to Sanofi about access to olipudase alfa in the US, Sanofi has written the following response. Click here to read the response.
Fundraising & Awareness Opportunities
Contributions through fundraising by NNPDF members, families and friends are used to provide services and information to individuals and families affected by NPD, as well as supporting research into finding treatments. Please continue to host and support NPD fundraisers. Awareness Events promote awareness to the general public about Niemann-Pick disease. Click here to view current and past fundraising and awareness events.
Facebook Fundraisers
THANK YOU to those of you who have already hosted a Facebook Fundraiser! Are you interested in hosting? It is a great opportunity to raise awareness and funds for the NNPDF. If you are hosting a Facebook fundraiser please email the NNPDF Central Office at nnpdf@nnpdf.org to let us know.
Woodcliff Lake School District Fundraiser for NNPDF
Over five years ago the faculty and staff of the Woodcliff Lake School District began raising money for the National Niemann-Pick disease Foundation. When the children of one of our teachers were diagnosed with this rare disease we, as a community, were looking for a way to help. We began small at first just accessing the faculty and staff of our small district. Staff were permitted to wear jeans on a Friday in February for a $5 donation.
Over the years, our fundraising efforts/awareness campaign have grown. We have sold T-shirts to staff, increased the amount of jeans days, and included public service announcement videos teaching students about rare diseases on Fridays in February – with the final Friday focusing on Niemann-Pick disease. Through these efforts, we have raised and donated over $4000.00 to the National Niemann-Pick disease Foundation.
Our plan this year was to expand our fundraising efforts to include our students and the local community. Unfortunately, COVID 19 disrupted our fundraising efforts this year and we were forced to reschedule our planned event to the fall. We look forward to creating new and engaging ways to raise money and awareness for this worthy cause.
Have you hosted a fundraiser for NNPDF recently?
Send us your photos and we’ll share them and details from your event in upcoming newsletters!
Upcoming Events
Check out our Upcoming Events page.
Stay Connected With Us
A quick reminder that if you are not receiving our NNPDF monthly newsletter via email or have recently changed your address or email, please click here to join us or to update your information.