|
Hello Friend -
As autumn settles in, I’m reminded of the strength and resilience that define our rare disease community. Whether you raise awareness through Day of Hope, share your powerful stories on social media or with your local legislators, or lend your time and expertise on a committee, your contribution as a RADvocate makes a meaningful impact. We are stronger because of your unwavering support—for each other and for our mission.
That same spirit of connection and commitment is fueling the excitement as we prepare for our annual signature fundraising event, Imagine & Believe. At this inspiring gathering next month, we’ll honor four extraordinary individuals—Blyth, Charlie, Alison and Tim Lord—and raise much-needed funds to provide family services, support research, and advocate for our patient community.
Together, we’re not just navigating the challenges of rare disease—we’re shaping the future with courage, compassion, and determination.
Warm regards,
| Kathleen Flynn, CEO, NTSAD | | Resources on Off-Label Drug Use | | |
Off-Label Drug Use is a series of resources developed by the NTSAD’s Research Committee to help educate healthcare professionals and the patient community. These documents include general guidelines, as well as drug-specific documents. Additional resources will be added to the website as they are completed.
- Off-label Drug Use: General Information
- Aqneursa for Health Care Providers
- Aqneursa for Patients
- 4-Phenylbutyric Acid (4-PBA)
On behalf of the Research Committee, thank you to Drs. Gustavo Maegawa, Chris Stephen, and Mathias Schmidt for their invaluable comments and help reviewing these documents.
NTSAD does not advocate for or against off-label use of specific drugs for any individuals. Patients should always consult with their healthcare provider about any changes to their medication regimen.
| | NIH Researchers Use Advanced MRI Techniques to Speed Evaluation of Therapies for Brain Illnesses Like GM1 Gangliosidosis | | |
NIH researchers have demonstrated that differential tractography, a specialized MRI‑based technique, can detect changes in brain connectivity over time in children with GM1 gangliosidosis—changes that mirror disease progression.
By correlating those imaging‑based changes with clinical decline, the technique offers a noninvasive biomarker that may reveal treatment effects sooner than symptom‑based assessments. Importantly, this approach could accelerate clinical trials not just for GM1 gangliosidosis but for other neurodegenerative brain disorders as well.
| | Advocacy, Awareness, and Giving | | Be a RADvocate on Capitol Hill! | | |
We are excited for Rare Disease Week 2026 on Capitol Hill this coming February. To help participants attend, the EveryLife Foundation offers a limited number of travel reimbursements. The application is open now! The application window closes on Friday, November 7th.
There are exciting programming improvements coming to Rare Disease Week 2026 based on community feedback. Learn about all the improvements and apply for a travel reimbursement by clicking on the button below.
| | What a Fantastic 15th Annual Day of Hope! | | |
Saturday, September 20th marked the 15th Annual Day of Hope to raise awareness and funds to support rare disease families. Thank you to the families and individuals from coast to coast who held events, "Moved A Mile," and showed their support!
Our HOPE lives on:
-
There's still time to join the fun and host your own event—walks, trivia nights, dance parties, holiday gatherings—you name it.
- Snap a photo (or a TikTok video), tag us, and use #NTSAD #NTSADDOH25 and #DayofHope2025.
- Donate today to support families and fuel research.
- Let’s keep moving together—for inspiration, for community, for HOPE.
If you are interested in hosting a Day of Hope in your community, you may host it anytime – not just in September. Email Becky at becky@ntsad.org for more information.
Learn more and donate in honor of Day of Hope using the button below.
| | |
Be a RADvocate for NTSAD!
Your Voice Matters! Your Story Inspires!
Are you a parent, caregiver, or loved one impacted by a rare genetic condition like Tay-Sachs, Canavan, GM1, or Sandhoff disease? You’re not alone — and your voice is powerful.
Join us as a RADvocate to raise awareness, share your journey, and help drive change for the rare disease community. Whether you're sharing your story, supporting others, or advocating for research and policy — your impact is real. Email Becky today, at becky@ntsad.org for more information.
We are rare together - we are NTSAD!
| | Imagine & Believe with Us! | | |
Join us for NTSAD’s signature fundraising event, Imagine & Believe, on November 6th, from 6-9pm at the Hyatt Regency Cambridge where we'll envision a world with effective treatments for Tay-Sachs, Canavan, GM1, and Sandhoff diseases.
This year, we are proud to recognize Blyth and Charlie and Alison and Tim Lord and the Cameron and Hayden Lord Foundation for their extraordinary 25-year commitment to advancing NTSAD’s mission. Their tireless advocacy and enduring generosity have made a lasting impact on generations of families affected by rare genetic diseases.
Be part of this unforgettable evening and support the mission that drives us forward. Purchase tickets, become a sponsor, or place a tribute today!
Stay tuned—our online auction will be "live" later this month!
Use the button below or contact Erin at EDemers@ntsad.org for more information.
| | NTSAD's 5th Regional Family Meetup: SoCal Edition! | | |
Community, connection, and support was once again on display in Irvine, California, on September 20th and 21st for our fifth Regional Family Meetup. Nearly 20 friends and family members from the southern California area gathered together for a weekend of meaningful connection and conversation. We laughed, we hugged, and we also Moved a Mile for Hope!
We are looking forward to seeing our New England friends and families at our next Regional Family Meetup this coming February in Canton, Massachusetts! If you're near the Canton area and would like to join us, email Becky at becky@ntsad.org for more information.
| | |
Every month we witness the strength of individuals living with a rare disease. The compassion of people like you supporting them help us carry on our mission for families like Eli's.
"Eli is a funny car loving 16-year-old boy. He has Juvenile Tay-Sachs but it does not define him as a person. He has been a strong fighter through so much in his 16 years of life so far; from having COVID twice, to being in a diabetic coma with paralysis for almost a year, and scoliosis that is crushing his lungs, which has led to respiratory destress twice this year. His drive makes us fight for him harder every day.
Eli's love for cars started our fundraising car shows over 10 years ago. Now he has loads of followers helping raise awareness and funds for kids like him. We have a 1965 Ford Fairlane that is a memorial for all the kids who are or have fought this terrible disease just like Eli. The car carries the names on the back windshield for all to see. At our car shows we have made angel trophies that hold the names of kids lost each year. These trophies help carry on the names of the kids lost and their stories to be told and carried on forever. We will stand by our son as long as he wants to fight."
- Faith, Mom to Eli
| | |
| |
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
| | | | |
