Hello Diana,

Our NTSAD community continues to unite and inspire. At our September regional meetup in New Jersey, families made connections and moved a Mile for Hope, while many others hosted a variety of Day of Hope activities throughout the country to raise awareness and funds to drive progress toward effective treatments and support families.

Raising awareness is vital for the NTSAD community, as it helps inform others about rare diseases and the challenges individuals and families face. Awareness efforts often lead to increased support, funding for research, and greater understanding within the broader community. Activities like Day of Hope play a key role in spreading the message and engaging more people.

And in just a few weeks, our community will come together to honor the Buryk family for all they have done to bring together key thought leaders from around the world to advance research and together we will Imagine & Believe a world free from Tay-Sachs, Canavan, GM1 and Sandhoff diseases. We are grateful to all those sponsoring our annual fundraising event, including our Board of Directors, industry partners, friends, and families. I am continually inspired by our amazing and resilient community and their dedication to our mission and caring for each other. 

This issue of Community Connections features new resources and highlights some of the recent and upcoming happenings. I hope you find it interesting and inspiring.

Kathleen Flynn, CEO, NTSAD

Celebrating the 14th Annual Day of Hope!

The 14th Annual Day of Hope was once again a huge success with the rare community and supporters participating in events from coast to coast.

Together we moved a mile to raise awareness, and held events to raise funds for research and family support, but we're not done yet. Critical funding is still needed to support the research being done to find viable treatments and cures, as well as support families coping with rare disease and bereavement.

Make an impact and give today!

Be sure to like and follow NTSAD on social media for the most current rare community news and information.

Family Services Spotlight: Regional Family Meetup in Short Hills, NJ

A fantastic time of community, connection, and support was had. The Regional Family Meetups continue to provide an opportunity for rare families to come together with their peers to extend the Annual Family Conference throughout the year and across the country. Our time in Short Hills this September was simply magical with both old friends and new. While we are rare, we have each other. No one has to walk this path alone. That, in and of itself, is a reason to smile.

You're Invited to Imagine & Believe!

Join us for NTSAD's annual signature fundraising event, Imagine & Believe, November 7th. This event unites families, industry leaders, clinicians, researchers, and advocates to envision a future with effective treatments for Tay-Sachs, Canavan, GM1, and Sandhoff diseases.

To sponsor, make a donation, or purchase tickets or a digital ad, visit our website.



Thank you to the amazing committee of volunteers who are assisting with the plans for Imagine & Believe, including Lauren Celano, Lori and Lee Greenwood, Ryan Miller, Jamie Ring, and Peggy Slasman.

We are also very grateful for the support of our generous sponsors (to date):

BELIEVE

Aspa Therapeutics, a BridgeBio Company

Gerry Cox* and Cindy Lemere

HOPE

Chris Chapman and William Ohle

Caitlin and Michael Gladstone

INSPIRATION

Amicus Therapeutics

Azafaros

Peggy Furth

JCR Pharmaceuticals

Sanofi

Sedra and Alan Schiffman

UMass Chan Medical School

DETERMINATION

Adelman Associates

Tedra Cannella

Evan Ungerleider Fund/NY Area Fund of NTSAD

Lori and Lee Greenwood

Sue Kahn and Dan Kirschner

Staci Kallish, DO*

Jon Lawrence* and Ashlee Suran

Blyth and Charlie Lord

Mathew Forbes Romer Foundation

* NTSAD Board member

DREAM

B Brave Foundation*

Blu Genes Foundation

JScreen

Louis Segreto 26 Foundation

Propel Careers*

Tito’s Handmade Vodka

RARE

Jamie Ring Advocacy Consulting*

ADVOCATE

MassBio

Carla Steckman*

Act Now!

The Rare Pediatric Disease Priority Review Voucher Program is an important part of moving drug development forward for rare diseases. It is in danger of ending and you can help save it.

The House passed the Accelerating Kids Access to Care Act on September 17. It is attached to a bigger bill that is waiting in the Senate with the vote being rescheduled to December.

Click on the action alert and contact your legislators. Share the action alert with your family, friends, co-workers to ask them to take action on behalf of the rare disease community!

2025 NTSAD Research Initiative:

Request for Proposals Submission Period Is Open

For 67 years, NTSAD, the leading patient advocacy organization dedicated to Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases, has supported rare families and advanced research. Since it was established in 2002, NTSAD’s Research Initiative Program has awarded more than 75 grants totaling more than $5.1 million. The data generated from research funded by NTSAD has been leveraged to attract more than $30 million in follow on grants from larger funders, including the National Institutes of Health (NIH).

Due to prior commitments to support ongoing GM1 and GM2 research, this year’s request for proposals is focused on research on Canavan Disease only. We are interested in all aspects of therapeutic discovery. Basic research and translational studies are strongly encouraged to generate strong preliminary data to enable major funding by other third parties in the future.

The 2025 Request for Proposals are available now under the grant opportunities tab on the NTSAD website.

Any questions related to the Research Initiative Program and the application process may be directed to Valerie Greger, Ph.D.

On Rare: Living with Canavan

BridgeBio featured an emotional and moving interview with Dawn, mom to Vayle, who lives with Canavan disease. Her story resonates with many parents in the rare community from the road to diagnosis, the heartache of not meeting milestones, to how one comes to terms with the devastating diagnosis.

We applaud Dawn in poignantly sharing her life with Vayle and how she manages it all as a single mom.

A Win for Rare Disease:

Encouraging Drug Approvals

for Niemann-Pick Type C

IntraBio shared the news in this press release that the FDA "has approved AQNEURSA™ (levacetylleucine) for the treatment of neurological manifestations of Niemann-Pick disease type C (NPC) in adults and pediatric patients weighing ≥15 kg. AQNEURSA is the only FDA-approved stand-alone therapy indicated for the treatment of NPC."

Zevra Therapeutics also issued this press release announcing the FDA's approval of "MIPLYFFA™ (MY-PLY-FAH) (arimoclomol) capsules as an orally delivered treatment for Niemann-Pick disease type C (NPC). The first NPC drug approved by the FDA, MIPLYFFA is indicated for use in combination with miglustat for the treatment of neurological manifestations of NPC in adult and pediatric patients two years of age and older." 

Mission Moment: Meet Luca

"Why us? The question we will never know the answer to. Sandhoff Disease, the official diagnosis came five short days prior to Luca’s first birthday and when I was seven months pregnant. An unfathomable gut punch, that left us in a cloud of denial and grief for some period. After our initial diagnosis we decided, as a family, to focus on the positives and give Luca the best life possible for however long he has left. Through it all, he has taught us so much in the past 16 months and continues to teach us daily. Luca is strong, resilient, happy. Even though he cannot speak, he shows us and his little brother unconditional love. 

We attended our first regional meetup this past weekend and it was an experience we will never forget. Much like this disease, walking into the unknown was a bit daunting. Instantaneously, we were at ease after speaking with everyone. An immediate connection was formed over symptom familiarity, our worries and needs. We are incredibly thankful to the NTSAD, in these five short months, for all the resources they have provided for our family. We are hoping to make it to Dallas in 2025, but in the meantime, we are grateful for each day that we get to share with both our boys."

-Allison, Luca's mom

Staff

Kathy Flynn, CEO

Becky Benson, Family Support & Engagement Manager

Mackenzie Briggs, Administrative Assistant

Valerie Greger, PhD, Research Director

Diana Jussila, Director of Family Services

Cynthia Perreault-Micale, PhD, Research Manager