Hello NTSAD,

As Rare Disease Month ends, we extend our heartfelt thanks to everyone who participated in NTSAD's "Tiny Hoofbeats, BIG Impact" social media campaign and engaged in their local communities to raise awareness for the conditions we represent. Your efforts have made a significant impact on spreading awareness and advocating for change.

Our NTSAD staff proudly participated in Rare Disease awareness events and joined other patient advocates by endorsing letters to remind legislators that continued research funding is crucial to driving progress for more than 25 million people in our country who are living with a rare disease.

I was deeply touched by two members of our community who reached out this month, expressing concern about the potential loss of research funding— a retired journalist and editor whose only two siblings had Tay-Sachs, and a 100-year-old WWII veteran whose son, Robert, sadly passed away from Tay-Sachs over 70 years ago. Together, their stories, along with the voices of many others, motivate us to keep pushing research forward.

As we turn our attention to next month’s Annual Family Conference, we are excited to come together in Dallas to support one another and continue this important work. We look forward to spending time with many of you.

Warm regards,

Kathleen Flynn, CEO, NTSAD

Take Action and Advocate for Rare Now

We need your help to protect critical funding for rare neurodegenerative disease research.

Recently, the Office of the (new) Director of the National Institutes of Health (NIH) made an announcement that could have serious consequences for our fight to find treatments and cures for Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases. NTSAD is calling on our families and their networks to take immediate action - details below.

They proposed capping “indirect” costs at 15%, which will result in a reduction of approximately $4 billion annually in funding for biomedical research across the country. The NIH is the largest funder of medical research in the United States, and this reduction in their budget will directly affect research in rare diseases and the patients and families that desperately rely on it. This would slash the portion of NIH grants allocated to essential expenses like lab maintenance, administration, and operations – effectively halving the historical rate immediately. These changes will significantly reduce support for critical research, including the funding that drives the search for treatments and cures for the devastating diseases NTSAD represents.

For families affected by Tay-Sachs, Canavan, GM1 gangliosidosis, and Sandhoff diseases, these cuts could delay or derail the breakthroughs that bring us closer to life-saving treatments.

Several researchers and academics affiliated with NTSAD are deeply concerned about the potential impact of these cuts on their ability to continue this essential work. As a community, we must act now to urge our lawmakers to oppose these funding cuts that threaten to halt or reverse progress for rare diseases, including those we care so deeply about.

Congress needs to hear from YOU today about how these funding cuts will affect you, your family, and the future of research in the diseases.

Share Your Voice to Support Rare

By sharing our stories with lawmakers, we put a human face on the challenges we face, reminding them that we are real people—children, parents, adults and families—whose lives are affected every day. 

Advocacy ensures our voices are heard and drives the necessary support for funding and policy decisions. Recently, Stanley, one of the earliest members of the NTSAD community, shared a powerful letter he sent to his legislators, urging them to support rare disease research and highlighting its impact on families like his own. His courage exemplifies the advocacy needed to inspire change. 

We encourage you to read Stanley’s letter, and let it inspire you to share your own story with lawmakers—your voice matters, and together we can continue to drive the conversation forward for the rare disease community.

Making an Impact: Advocacy in Action

Recently, community members David N. and Rachel T. were invited to speak at the Connecticut Rare Disease Advisory Council’s Rare Disease Day event at the Legislative Office Building at the capitol in Hartford. NTSAD's CEO, Kathy Flynn, was also invited to share a few words -

"It was a privilege to represent the NTSAD community at the Rare Disease Advisory Council’s Rare Disease Day at the Connecticut State Capitol last week, alongside Rachel, a dedicated Hartford educator and mother living with late-onset Tay-Sachs, and David, a passionate advocate working to eliminate the Katie Beckett Waiver waitlist in memory of his daughter, Chloe, who recently passed away from juvenile Tay-Sachs. Their courage and dedication serve as a powerful inspiration to the entire rare disease community and all of us at NTSAD."

Know Your Heritage, Know Your Carrier Status

Carrier testing can determine if a person carries one of the altered genes that cause a recessive disease. DNA carrier testing establishes the presences or absences of particular mutation(s). Enzymatic testing evaluates the level of activity of an enzyme, which when absent causes disease. In some diseases, the enzyme test is not sensitive enough to determine carrier status. 

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.

According to the National Institutes of Health (NIH), the carrier rates among the general United States population are:

• Tay-Sachs: 1 in 250 people
• Canavan: 1 in 300 people
• GM1: 1 in 250 people
• Sandhoff: 1 in 600 people

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.

2025 Annual Family Conference Sponsorship Opportunities:

Deadline is March 14, 2025

The Annual Family Conference experience is made possible by the generosity of friends, supporters, and industry partners.

Please consider sponsoring our upcoming Annual Family Conference in April 2025.

For 47 years, NTSAD's Annual Family Conference has provided families:

• A safe space to support and learn from one another
• An opportunity to learn from one another, researchers, clinicians, and industry members
• A camp experience for children living with one of the diseases we represent, and for rare siblings to connect with other kids just like them

There is an opportunity for industry members to host focus groups at the conference to gain a deeper in their understanding of the family experience in living with Tay-Sachs, Canavan, GM1 gangliosidosis, or Sandhoff disease.

To learn more or if you have questions about sponsoring the Conference, please email development@ntsad.org.

Our thanks to our generous sponsors for their support!*

*As of February 28, 2025

Mission Moment: Meet Gracie

"Gracie is nine months old, and was diagnosed with Sandhoff disease in January 2025. We live in Wisconsin and have been working on a bucket list of things to accomplish as we enjoy our limited time with her. NTSAD has been an amazing resource to connect with other parents who have experienced the same journey we are on. Every day is a gift and Gracie is living it up!"

- Rachel, Gracie'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