|
Hello Friend -
As we begin a new year, I want to take a moment to reflect with deep gratitude and optimism. Because of you, 2025 was a year of meaningful progress for NTSAD. Your unwavering commitment—through advocacy, generosity, partnership, and trust—made it possible for us to advance our mission and support our community in powerful ways. I invite you to read our FY2025 Impact Report and watch the Year in Review video, both linked below, which highlight many of the milestones you helped make possible. This past year was a strong reminder that progress never happens in isolation; it happens when dedicated individuals come together around a shared vision.
As we look ahead to 2026, we remain more committed than ever to supporting families, advocating for our ultra-rare disease community, advancing research, and moving closer to approved therapies—and we are honored to continue this journey side by side with you.
Wishing You Peace in 2026,
| | Two New Off-Label Drug Documents Now Available at NTSAD.org | | |
NTSAD’s Research Committee, chaired by Drs. Staci Kallish and Gerry Cox, has published two new documents for healthcare providers discussing the off-label use of Riluzole and Miglustat in GM1 and GM2 gangliosidoses. Thanks to Drs. Chris Stephen and Gustavo Maegawa for their insightful comments and help developing these resources. Stay tuned for patient-friendly versions of both Riluzole and Miglustat documents, which will be available on our website soon!
| | Advocacy, Awareness, and Giving | | Juvenile Onset GM1 and GM2 Patient-led Listening Session | | |
On August 28, 2025, members of the juvenile‑onset GM1 and GM2 (Tay‑Sachs and Sandhoff diseases) community shared their experiences living with these conditions during a closed, Patient‑led Listening Session with the FDA. Five parents described their children's diagnoses and spoke about the profound impact the diseases have had on their families. They offered candid perspectives on the idea of a placebo‑controlled trial and urged the FDA to consider alternative approaches for bringing therapies to rare disease communities. Throughout the session, they emphasized the urgency of time and the reality that these children cannot afford to wait.
| | Annual Family Conference Sponsorship Opportunities | | |
Our Annual Family Conference is made possible through generous support from individuals, families, foundations, and industry partners. Sponsors of the conference provide families and individuals with three days of connection, community, and support.
For more information, reach out to our Development Manager, Erin Demers at edemers@ntsad.org.
| | Share Your RADvocacy Story! | | |
Every voice in our community matters. We invite you to share what being a RADvocate means to you – whether it’s honoring a loved one, raising awareness, or supporting others on this journey.
Your words can inspire hope, foster understanding, and help others feel less alone. Together, we can show the strength and resilience of our rare disease community.
Need ideas? Here are a few prompts to get you started:
-
Being a RADvocate means...
-
I am a RADvocate because...
-
One way I support the rare disease community is...
-
What I want others to know about rare disease is...
Please send your story or a short quote along with a photo to development@ntsad.org by January 31st. We will be sharing them on social media throughout the month of February.
Thank you for helping us amplify the voices that make our community stronger!
| | The 2026 Annual Family Conference - Registration Is Open! | | |
NTSAD's 48th Annual Family Conference will be held in Reston, VA, at the Hyatt Regency Reston, from April 30 to May 3, 2026.
Come together with the NTSAD community for three full days of Support, Research Updates, and Health & Symptom Management programming, along with opportunities to connect and socialize with other individuals and families in a warm, welcoming environment.
This year's program starts on Thursday afternoon and ends with breakfast on Sunday morning.
For more information, visit the Annual Family Conference page on the NTSAD website, or contact Becky at becky@ntsad.org.
| | Now Accepting Helping Hand Grant Applications | | |
NTSAD’s Helping Hand Grants give families and individuals the opportunity to apply for financial assistance to attend the Annual Family Conference.
This unique program is made possible through the generosity of donors and is solely intended to aid parents of affected children and affected adults who would not be able to attend the conference without some financial help.
Helping Hand Grants cover the cost of registration ($500/adult, $250/child) and includes daily meals and hotel accommodations for up to three nights ($225/night for one standard room).
Please read all the information carefully as the program has been updated for 2026. The Helping Hand Grant application deadline is January 31, 2026.
To learn more and apply for a Helping Hand Grant, please follow the link below. Before you submit your application, read all information carefully, including all grant criteria and FAQs.
| | Reserve Your Annual Family Conference Hotel Room Now! | | |
Hotel rooms are now available to reserve for the 48th Annual Family Conference. All attendees must reserve their rooms using a personal credit card. The discounted conference room rate ($225/night for one standard room) is available from April 27 to May 6, 2026.
Attendees requiring an ADA accessible or roll-in shower room must reserve their room first and then let Becky know that they need an ADA room.
Email Becky with any questions at becky@ntsad.org.
| | |
Every month, we witness the strength of individuals, like Daphne, living with a rare disease. The compassion of people like you supporting them helps us carry out our mission.
"Daphne is three-and-a-half years old with infantile Tay-Sachs. She is the light of our lives and brings so much joy to everyone who meets her. At home she loves cuddles, her hot tub, and her dog Apollo, and she’s in preschool. We try to have as many adventures with her as possible. She is a traveler at heart and does so well in new places. She’s visited thirteen states and two other countries, but her favorite place of all is Disneyland."
-Lauren, Daphne’s Mom
| | |
| |
Staff
Kathy Flynn, CEO
Becky Benson, Family Support & Engagement Manager
Erin Demers, Development Manager
Valerie Greger, PhD, Research Director
Diana Jussila, Director of Family Services
Angela Papierski, Development Assistant
Cynthia Perreault-Micale, PhD, Research Manager
| | | | |
