February 2023 Newsletter
Rare Disease Day | Thanking our Niemann-Pick Health Care Heroes | ASMD Survey Opportunity | Family Support & Medical Conference | Family Advisory Working Groups | Family Conference Scholarships | NNPDF In Action | NNPDF Pop-Up Store | Courageous Parents Network Virtual Workshop | Rare Disease Advisory Councils | The Assistance Fund | Fundraising | Clinical Trial Updates | Surveys, Studies, & Market Research | NNPDF Membership | Emergency Hardship Program
NNPDF is Showing our Stripes for Rare Disease Day 2023
Every year, the National Niemann-Pick Disease Foundation (NNPDF) proudly joins with patients, families, healthcare leaders and advocacy groups to recognize Rare Disease Day (RDD) on the last day of February. We take this opportunity to show our support not only for the Niemann-Pick community, but also for 6,000+ other rare disease communities across the world.
In many awareness efforts during RDD, we often see images of zebras – the “official” symbol of rare diseases in the United States. This image ties in directly to the “show our stripes” theme embraced by many advocacy groups. But what does this really mean? How does a zebra relate to people living with rare diseases and why does this matter?
The use of the zebra as a symbol for rare disease communities began in the late 1940s when medical students were taught the saying “when you hear hoofbeats, think horses, not zebras.” This phrase was intended to remind medical professionals to consider the most common and likely diagnoses first, rather than getting caught up in trying to diagnosis a rare or exotic disease early in the patient’s care. But as more and more rare diseases were discovered, the healthcare community started to realize that many patients are affected by rare diseases and that providers should take steps to expand their diagnosis strategy in many cases. The need is especially acute given that many rare diseases are misdiagnosed and the path to diagnosis can often take years or even decades. Over time, the zebra came to serve as a reminder for healthcare professionals to consider the possibility of a rare disease when faced with complex or unusual symptoms.
The zebra symbol is particularly meaningful for the Niemann-Pick disease community. While efforts to build awareness have made progress, Niemann-Pick disease is still not widely known or understood. Patients often must undergo a series of tests and doctor visits before they reach a diagnosis. Many of the more common symptoms associated with Niemann-Pick are also associated with other more common diseases. It is not surprising then that many doctors continue to first consider a “horse” rather than a “zebra” in assessing patients. As an organization, and a community, we must help build broader awareness of the need to consider Niemann-Pick disease for at-risk patients. Our work to raise awareness can help more medical professionals to become familiar with the signs and symptoms that can lead to an accurate Niemann-Pick diagnosis. We must continue to highlight the importance of early diagnosis and treatment, which can greatly improve the quality of life for patients and their families.
This Rare Disease Day, NNPDF is calling on every member of our wonderful community to “show your stripes” and join us in supporting people affected by rare diseases. Together, we will create a world where more people with rare diseases receive timely and accurate diagnoses, have access to effective treatments, and are able to live their lives to the fullest. No family needs to face a rare disease alone. United we represent hope, determination, and a community that refuses to give up.
Thanking our Niemann-Pick Health Care Heroes
Clinical care team members play an important role in the lives of our Niemann-Pick families and are valued throughout our community. In recognition of Rare Disease Day NNPDF will mail Thank You cards to your Niemann-Pick Health Care Heroes to let them know they are very important to us. Health Care Heroes can include your primary care provider, genetic counselor, speech pathologist, physical or occupational therapist, gastroenterologist, respiratory therapist, home health care nurse, etc.
Participate by providing us your Health Care Heroes’ information by March 15th.
ASMD Patient Experience with Olipudase Alfa Survey
The International Niemann-Pick Disease Registry (INPDR) is conducting this survey in collaboration with The National Niemann-Pick Disease Foundation, Inc. (NNPDF), International Niemann-Pick Disease Alliance (INPDA), and Niemann-Pick UK (NPUK). This survey forms part of a larger study that includes interviews with Niemann-Pick disease type A/B and type B (ASMD) patients, which will explore the questions in this survey in more depth.
If you or someone you know are interested in participating, learn more and take the survey here.
July 20 – 22, 2023
Wyndham Grand Orlando Resort Bonnet Creek | Orlando, Florida
We look forward to seeing you at our 31st Annual NNPDF Family Support & Medical Conference! NNPDF has many exciting opportunities to get involved in research and to connect with expert clinicians, researchers, and other Niemann-Pick families who share your journey. Register and reserve your room today!
Conference Registration | Hotel Reservations | Conference Information
NNPDF Family Advisory Working Groups
The National Niemann-Pick Disease Foundation, Inc. (NNPDF) will host Family Advisory Working Groups that will take place on Thursday, July 20, 2023 from 1:00 pm – 4:00 pm EST at the Wyndham Grand Hotel, Orlando. This is an optional event that will take place prior to the start of our Family Support & Medical Conference. Pre-registration is required.
Family Advisory Working Groups will provide Industry partners the opportunity to connect privately with a group of 6-10 Niemann-Pick Type C or ASMD patients and/or immediate family members for a 3-hour session. Due to limited space, there is a limit of 2 participants per family. Participants must be adults living in the United States. Participants are eligible for a $350 stipend per participant and 1-night hotel included per family, limited to the night prior to the session. Application deadline is May 31st.
Family Conference Scholarships
Scholarship funding is available to help families attend the 2023 NNPDF Family Support and Medical Conference. NNPDF members living in the US are eligible to apply for scholarship assistance. The NNPDF Family Conference Scholarship is available for families to help ease the cost of attending the family conference. This scholarship is limited to immediate family members of an individual with Niemann-Pick Disease.
The NNPDF Family Conference Scholarship will provide up to three (3) nights hotel (room and tax only*) to eligible applicants. Application deadline is April 1st.
NNPDF In Action
Joslyn Crowe, NNPDF Executive Director and Justin Hopkin, MD, NNPDF Board Chair Emeritus along with our Niemann-Pick colleagues attended WORLDSymposium for Lysosomal Storage Diseases last week where the latest updates on research, diagnosis, and treatment of lysosomal storage conditions was shared.
The NNPDF, NPUK, INPDA and INPDR had 6 posters that were presented on our latest research. Visit our publications page to view the following posters that were presented:
- Acid sphingomyelinase deficiency: Burden of disease and real-world impact of enzyme replacement therapy on pediatric patients and caregivers
- The impact of olipudase alfa on QoL in pediatric ASMD patients
with neurologic disease
- Access Burdens Reported by Patients vs. Caregivers in Acid Sphingomyelinase Deficiency (ASMD)
- Collaboration between patient advocacy and industry to create a master protocol to investigate the novel therapy acetyl-L-leucine for three ultrarare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosides and Ataxia-telangiectasia
- Fear Related to Access Issues in Acid Sphingomyelinase Deficiency (ASMD)
- Health Insurance Literacy in Acid Sphingomyelinase Deficiency (ASMD)
Our Niemann-Pick colleagues exchanged insights with Sanofi senior leadership at Sanofi’s Patient Advocacy event at WORLD Symposium: (left to right) Eric Racine, Head, US Public Affairs & Patient Advocacy, Sanofi; Shannon Resetich, Global Franchise Head, Rare Diseases, Sanofi; Paul Hudson, CEO, Sanofi; Sandy Cowie, President, INPDA; Bill Sibold, Executive VP, Head, Specialty Care, Sanofi; Conan Donnelly, CEO, INPDR; Justin Hopkin, Board Chair Emeritus, NNPDF; Joslyn Crowe, Executive Director, NNPDF; Jose Noguera, Global Public Affairs Lead, Gaucher & ASMD, Sanofi; Toni Mathieson, Chief Executive, NPUK; Stephen Meunier, Head, Public Affairs & Patient Advocacy, Rare Disease, Sanofi
Hey NNPDF Community! We are excited to share our NNPDF Pop-Up Store is NOW OPEN for a limited time! Get your NNPDF gear and support your community. Check out our new apparel and other NNPDF items. Order today! Store will be open through March 19, 2023.
Courageous Parents Network Virtual Workshop
Grief whether anticipatory or in bereavement is a shared experience for the family and yet each member will likely experience and process grief in different ways, over different periods of time and with varied physical and emotional manifestations. Taryn Schuelke, CT, CCLS, former Grief and Bereavement Specialist on the Pediatric Palliative Care Team at Texas Children’s Hospital will offer insights on how to grieve alongside others. Register here!
The workshop is free and we hope you will take advantage of this offering.
Rare Disease Advisory Councils
NNPDF continues to support Rare Disease Advisory Councils (RDACs) across the country. RDACs give rare disease community members a unified voice in state government and provide a valuable resource to elected officials on rare disease education and challenges. Currently, 24 states have RDACs. NNPDF recently signed in support of creating an RDAC in the state of Indiana. Read the letter and learn more about this issue.
The Assistance Fund
Struggling with out-of-pocket expenses due to acid sphingomyelinase deficiency (ASMD)? The Assistance Fund is an independent charitable patient assistance organization helping patients and families by providing financial assistance for the cost of treatment and other health-related services. Through its Acid Sphingomyelinase Deficiency Financial Assistance Program, eligible individuals can receive assistance for all FDA-approved treatment for ASMD, including:
- Prescription drugs (copays, deductibles, and coinsurance)
- Health insurance premiums
- Therapy administration costs
- Disease management (such as prescribing-physician copayments), treatment-related travel costs, and genetic testing
Learn more about The Financial Assistance program.
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.
If you have recently hosted a fundraising event, send us your photos and we’ll share them and details from your event in upcoming newsletters!
THANK YOU to Rosangela Nascimento, Carolina Dahlqvist, Keith Travels and Jennifer Gregory who recently hosted Facebook Fundraisers for the NNPDF! We truly appreciate your support!
Want to host your own Facebook Fundraiser? It’s easy! Visit facebook.com/fund/NNPDF to get started!
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.
Updates from KemPharm:
KemPharm has shared the following press release with the NNPDF announcing its name change to Zevra Therapeutics. Read press release.
Zevra Therapeutics (formerly KemPharm) has also announced that two abstracts involving clinical research of arimoclomol for the treatment of Niemann-Pick disease type C (NPC) have been accepted for presentation at WORLDSymposium 2023. Read the announcement.
Surveys, Studies, & Market Research
Be sure to check out our Surveys & Market Research webpage for current survey and study opportunities in the Niemann-Pick disease space. Participating in surveys and studies is important to the advancement of health options for our Niemann-Pick community members. Contact Laurie Turner at firstname.lastname@example.org for any questions.
Enrolling, confirming, or updating your membership will ensure we have accurate information for you and your family. This will help us to continue to provide you with important notifications and updates from the NNPDF.
For assistance contact Laurie at email@example.com or call 920-542-4038
Emergency Hardship Program
The NNPDF Emergency Hardship Program continues to offer assistance to qualified NNPDF U.S. member families facing a crisis. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating and cooling, electricity, phone, water and sewer), home and car repairs, and bereavement expenses. Click here for complete details and eligibility information.
Please contact Laurie Turner, Family Services Manager at 920-542-4038 or firstname.lastname@example.org if you have any questions about this program.