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Hello Friend -
As we come off Rare Disease Month, we are so grateful to the members of our community who served as RADvocates, courageously sharing their personal stories to raise awareness of Tay-Sachs, Sandhoff, GM1, and Canavan diseases. Your voices continue to educate, inspire, and drive change. Last month, Diana and I had the opportunity to attend the annual WORLDSymposium, where we met with industry partners, fellow patient advocacy organizations, and researchers—all focused on advancing therapies for our community.
Excitement is building as we prepare for our 48th Annual Family Conference next month, where individuals and families will gather for research updates, educational and support sessions, and a new advocacy and fundraising session designed to strengthen our collective impact. Be sure to register if you haven’t already done so!
We are also proud to share that the National Organization for Rare Disorders (NORD) has selected NTSAD as one of two patient organizations to receive a grant to establish a GM2 (Tay-Sachs and Sandhoff) patient registry—an important step forward in accelerating research and therapeutic development. In addition, two research proposals aligned with our strategic priorities are currently under review.
Thank you for standing with us. Your partnership, generosity, and commitment make this progress possible.
Looking forward to seeing many of you at the Conference next month,
| | New Off-label Drug Documents | | |
NTSAD’s Research team just added two new off-label drug documents, "Miglustat for Patients" and "Riluzole for Patients", to our website. Many thanks to Karen Grinzaid, MS, CGC, CCRC, for making these informative documents patient friendly. You can view them, as well as our entire series of off-label drug documents, at https://ntsad.org/resources-for-professionals/off-label-drug-information/.
| | Researchers/Professionals Section of Our Website: Refreshed! | | |
Clinicians and scientists are encouraged to visit the Researchers/Professionals section of our website. We've reorganized this section to better reflect our mission, highlight our current funding procedures, and include a list of NTSAD research grants. It also features a new curated literature collection that is updated weekly. Please visit the section for Researchers/Professions, here: https://ntsad.org/ntsad-research/.
| | NTSAD Attends the 2026 WORLDSymposium | | |
NTSAD’s Kathy Flynn and Diana Jussila represented NTSAD at the annual WORLDSymposium, where key stakeholders in the lysosomal storage disorders convened to share research progress and make connections that contribute to advancements in the field.
Kathy and Diana met with several industry partners, new biotech contacts, and leaders of other patient organizations. They presented a poster, entitled, “The Patient Experience: Effecting Change in Ultra-rare Disease Clinical Trial Design,” which highlighted key themes shared at NTSAD’s Patient-led Listening Session for juvenile GM1 and GM2 in August, and also attended educational presentations by Azafaros and the National Institutes of Health about research progress in these ultra-rare diseases. Members of the LOTSS Think Tank convened over a dinner sponsored by the Kaite & Allie Buryk Fund at NTSAD.
The photo above was captured at a meeting with industry partners from JCR Pharma and MEDIPAL at the WORLDSymposium.
| | Published Data: AAV9 Gene Therapy in Type II GM1 Gangliosidosis - A Phase I/II Trial | | |
At the WORLDSymposium last month, world-renown NIH researcher and former NTSAD Scientific Advisory Council Chair Dr. Cynthia Tifft presented her research, "AAV9 Gene Therapy in Type II GM1 Gangliosidoses - A Phase I/II Trial," which was also published in The New England Journal of Medicine on February 6. NTSAD was among the organizations Dr. Tifft acknowledged during her presentation for our contribution to this important research, and she emphasized the essential role of the families who participated in the study and made the data collection possible.
Read the paper in The New England Journal of Medicine
https://www.nejm.org/doi/full/10.1056/NEJMoa2510935?query=featured_home
| | Congress Passes Five-Year Reauthorization of Rare Pediatric Disease PRV Program | | |
Legislators heard our collective voice! This month, Congress passed legislation including a five-year reauthorization of the Rare Pediatric Disease Priority Review Voucher (PRV) Program, increased funding for rare disease research, and other healthcare priorities that matter deeply to patients and families.
The PRV Program, established by the FDA over a decade ago, has been instrumental in advancing therapies for more than 40 rare pediatric conditions, many of which would likely never attract investment without this program. Importantly, the program costs taxpayers nothing, yet it provides immense hope to families – and has improved health outcomes for thousands of children in the rare community.
Thanks to everyone in our community who reached out to their legislators to make this happen!
| | Know Your Heritage, Know Your Carrier Status | | |
As we celebrate March and Saint Patrick's Day, we are reminded of the importance of carrier screening, particularly given the higher prevalence of certain lysosomal storage diseases among individuals of Irish descent.
Carrier screening is recommended for anyone planning a pregnancy or who is already pregnant, regardless of their ethnicity or family history of genetic diseases. Ideally, carrier screening should be performed before pregnancy to allow couples to learn about their reproductive risk and explore options available.
About 1 in 27 people of Ashkenazi Jewish descent is a carrier of Tay-Sachs disease. If you have Ashkenazi heritage, it’s a good idea to be screened, even if your partner is not Jewish. People of Irish, Cajun, French Canadian, and Pennsylvania Dutch heritage also experience higher levels of Tay-Sachs disease in their populations.
Check out NTSAD's Variant Database document here for more information about each of these diseases, the carrier rates, and incidences.
| | Supporting NTSAD: Gifts, Grants, and Opportunities | | Interested in Fundraising? | | |
Our community continues to inspire us with the creative and heartfelt ways you honor your loved ones. To support anyone interested in fundraising, we’ve created a NTSAD Fundraising Toolkit to help you get started.
Whether you’re thinking about a birthday fundraiser, community or corporate event, or Day of Hope activity, the toolkit includes tips, ideas, and guidance for creating a fundraiser that feels meaningful and manageable.
If you’d like a copy of the toolkit or want to talk through an idea, reach out to our Development Manager, Erin Demers, at edemers@ntsad.org. We’re here to support you every step of the way!
| Annual Family Conference Sponsorship Opportunities | | |
Our Annual Family Conference is made possible through generous support from individuals, families, foundations, and industry partners. Sponsors provide families and individuals with three days of connection, community, and support.
We’re always looking for new sponsors. Are you interested?
To receive full recognition benefits, including signage, social media posts, inclusion in the printed conference booklet, and logo placement on t-shirts, we kindly ask that commitments be received by March 20.
Click here to learn more about sponsorship opportunities or reach out to our Development Manager, Erin Demers at edemers@ntsad.org.
| | Join the 70th Anniversary Campaign Focus Group! | | |
In 2027, NTSAD will recognize 70 years of providing individuals and families from around the world with connection, resources, and support – and planning starts now! We’re gathering members from across our community to help shape this milestone year.
If you're interested in getting involved and sharing your thoughts and ideas on ways to mark this anniversary, we’d love to hear from you! Please reach out to our Development Manager, Erin, at edemers@ntsad.org.
| | Family Support: 48th Annual Family Conference | | Register and Reserve Your Hotel Room Today! | | |
NTSAD's 48th Annual Family Conference will be held in Reston, VA, at the Hyatt Regency Reston, from April 30 to May 3.
Join 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 connective, warm, and welcoming environment.
For more information, visit the Conference event page on the NTSAD website at: https://ntsad.org/events/annual-family-conference/ or contact Becky at becky@ntsad.org.
The NTSAD Group Hotel Block is nearly full! Reserve your room ASAP!
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. 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-accessible room. Room reservations can be made here: https://www.hyatt.com/events/en-US/group-booking/RESTO/G-NT26
Register to attend the conference here: https://lp.constantcontactpages.com/ev/reg/r9rsdby.
| | 2025 Annual Family Conference Sessions: Schedule Overview* | | |
Thursday 4/30 - Support Day
- New Attendee Orientation
- Support Groups for Parents, Late Onset, Youth Group
- Welcome Dinner
Friday 5/1 - Research Day
- NTSAD Research Update
- Presentations and Panel Discussion: The Research Process, Therapeutic Approaches, and Clinical Trial Criteria
- Research Breakouts by Disease/Onset
- Get Involved: Advocacy and Fundraising
- Quiet Reflection and Commemoration
- Totally Rad 80s Glow Party!
Saturday 5/2 - Health Management Day
- Health and Symptom Management for Affected Children - Main Session and Breakouts
- Living with Loss for Bereaved Parents
- Late Onset Movement and Mobility
- Awards Luncheon
- Men's and Women's Groups
- Late Onset Q&A and Support for Caregivers Groups
- Parent Peer Group - Divided Discussion for those Caring for Additional Children and those Who Are Not
- Celebration Dinner
Sunday 5/3 - Until Next Year
- Until Next Year...Brunch!
*Schedule is subject to change without notice
| | Join the All-Conference Zoom on March 25 | | |
We invite all conference attendees to join NTSAD staff, board, and volunteers on Wednesday, March 25 at 7:00pm ET for an All-Conference Zoom meeting. We’ll answer your FAQs, go over the conference schedule, and spend some time connecting before we meet in person at the 48th Annual Family Conference next month in Reston, VA!
Register here to join us!
| | Accepting Nominations for Power of One and Above and Beyond | | |
Every year at the Annual Family Conference NTSAD presents awards to individuals who have shown tremendous efforts in support of affected families and individuals to further the mission of NTSAD through advocacy, awareness, fundraising, research, and promoting community and connection.
The Power of One award is given to someone within the NTSAD community, such as an affected family member or other person closely affiliated with our organization and exemplifies the impact one person (or family) can make.
The Above and Beyond award is given to someone outside of the immediate NTSAD community who has championed these causes for affected families and individuals out of the goodness of their heart and strong feelings of connection to our community.
If you would like to nominate someone for either the Power of One or Above and Beyond awards, please email your nomination to becky@ntsad.org by March 15, 2026.
| | Regional Family Meetup in Canton, MA | | |
NTSAD staff, families, and individuals had a wonderful time at the Seventh NTSAD Regional Family Meetup the weekend of February 21! Families gathered to celebrate our shared bonds in connection and support. It was a time filled with conversation and lots of laughter that comes from being surrounded by others who truly understand the rare disease journey. What a mighty rare community we are!
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The regional family meetups continue to provide valuable opportunities to nurture these bonds within our rare community and highlight the power of connection. By bringing individuals and families together, we strengthen relationships, foster hope, and create a space where everyone feels seen, heard, and supported.
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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
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