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Hello Friend -
September is always a meaningful—and very busy—month for the NTSAD community! Founded in September 1957, NTSAD will mark 69 years of advocacy, community, and progress this month—work that has helped shape the organization we are today. September is also a time to raise awareness for Tay-Sachs, Sandhoff, Leukodystrophies (Canavan), Newborn Screening, and Carrier Screening, shining a light on the diseases on which we focus and strive to advance research, improve diagnosis and care, and ultimately treat and cure.
We kick off the month with our Carrier Screening Webinar on September 10, designed for families and healthcare providers, and we hope you’ll join us. On September 19, we will come together for Day of Hope—moving a mile at our Regional Meetup in South Florida while other families, friends, coworkers, neighbors, and supporters across the country raise awareness and funds in their own communities. Then, on September 24, we will launch our inaugural Canavan Think Tank, bringing researchers and clinicians from around the world together to share ideas, foster collaboration, and identify opportunities to move Canavan disease research forward. And, as September continues, we’ll be looking ahead to our annual signature fundraiser, Imagine & Believe.
There is so much happening this month, and each of these efforts reflects a different but equally important part of NTSAD’s mission—from educating and empowering families to building community, advancing research, and creating hope for the future. Thank you for being part of the NTSAD community and for helping us make every September—and every month—count.
Warm regards,
| | Extremely High Canavan Carrier Frequency in a South Indian Community | | |
A recently published research article reported that there is a community in South India with a very high carrier frequency of Canavan disease. This study found the carrier frequency of Canavan disease to be 1 in 23, which is higher than the typically reported ~1 in 40 in the Jewish community.
| | New NIH Study Compares Late-Onset Tay-Sachs to Late-Onset Sandhoff | | |
A group of researchers at the National Institutes of Health (NIH), led by Dr. Cynthia Tifft, published an article highlighting the similarities and differences in patients with late-onset Tay-Sachs (LOTS) versus late-onset Sandhoff (LOS) disease. Common to both disorders is that they often start with weakness of the legs, followed later by weakness in the arms, gait disturbances, and balance issues. Unique in LOTS patients are symptoms related to cerebellar dysfunction such as difficult to understand speech (dysarthria) and a higher prevalence of psychiatric symptoms.
On the other hand, LOS patients often show a severe sensory neuropathy that begins in the longest nerves of the body and advances in a symmetrical pattern, typically starting with symptoms in the feet and lower legs before gradually moving upward to affect the hands and arms.
| | Volunteers Needed for Canavan Disease Study | | The research team at City of Hope in California has been awarded a grant from the National Institutes of Health (NIH) to develop human iPSC-based cell therapy for Canavan disease. In order to test the manufacturing process of the cells to be used in the planned clinical trial, they need blood samples from patients with Canavan disease. Samples must come from a patient who has NOT been previously involved with another clinical trial. If you are interested, please click the button below for more information. | | Carrier Screening: What Families and Providers Need to Know | | |
Register for NTSAD’s educational webinar on Thursday, September 10, Carrier Screening: What Families and Providers Need to Know, with featured speaker, Staci Kallish, DO, a medical geneticist at UPenn Medicine. Learn how families, advocates, and healthcare providers can work together to increase awareness of carrier screening and help individuals make informed reproductive health decisions.
Whether you’re sharing information with relatives or supporting patients in your practice, you’ll leave with resources and practical guidance to help move the conversation forward.
| | Move a Mile for Day of Hope: Saturday, September 19 | | |
Join us on Saturday, September 19, for our 16th Annual Day of Hope, where our community will move a mile in their own way to raise awareness and critical funds for research, advocacy, and support for individuals and families affected by the rare diseases we serve.
Walk, run, stroll, bike, or dance! Do it solo or gather your friends, family or team. No matter how you move, you’re moving hope forward.
Visit our Day of Hope webpage or contact our Development and Communications Manager, Erin Demers at edemers@ntsad.org, to learn more about ways to get involved, including getting your personalized fundraising link and webpage with NTSAD!
| | Want to Share Your Story? | | |
Your story has the power to educate, inspire, and make a meaningful difference. Personal experiences from individuals and families in our community help raise awareness, strengthen advocacy efforts, and connect with others who may be navigating a similar journey. We are looking for community members who are interested in sharing their experiences for use in NTSAD communications, fundraising, advocacy, and awareness initiatives.
If would like to share your story, please contact our Development and Communications Manager, Erin at edemers@ntsad.org by September 15.
| | Supporting NTSAD: Gifts, Grants, and Opportunities | | Join Us for Imagine & Believe 2026! | | |
Our annual signature fundraiser, Imagine & Believe, will take place on Thursday, November 12, at the Hyatt Regency Boston/Cambridge. Join us for an inspiring evening that unites our generous donors, industry leaders, clinicians, researchers, advocates, and members of our rare disease community around a shared vision: a world free from Tay-Sachs, Canavan, GM1, and Sandhoff diseases, and a belief in the power of science, support, and community to make that vision a reality.
This year, we'll recognize Dr. Florian Eichler from Massachusetts General Brigham, who has been a trusted partner, advocate, and leader within the NTSAD community for more than 20 years.
Funds raised through Imagine & Believe directly support essential family services, groundbreaking research, and advocacy efforts that are changing lives every day. From supporting newly diagnosed families to advancing translational research, this event fuels progress and hope.
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For more than two decades, the Manning family has transformed love, remembrance, and determination into meaningful action for the NTSAD community.
In June, supporters gathered at the Applecross Country Club in Downingtown, PA, for the 23rd annual Drive FORE Dylan golf outing, an event established in honor of Dylan Manning and his legacy. This fundraiser began following Dylan’s diagnosis with infantile Tay-Sachs disease and has grown into a powerful tradition of community, advocacy, and hope.
Over the past 20+ years, Drive FORE Dylan has raised nearly $500,000 to support NTSAD’s work to advance research and provide resources for the individuals and families we serve.
We are incredibly grateful to the Manning family, event sponsors, volunteers, golfers, and supporters whose dedication continues to make a lasting difference. Together, they are honoring Dylan’s memory while helping move us closer to a future with effective treatments and cures for Tay-Sachs, Canavan, GM1, and Sandhoff diseases.
| | NTSAD Community Voices: The Reality of Rare Disease and Back-to-School | | |
A new school year may bring up uncertainties and apprehensions for rare families. The seemingly endless commercials and mail flyers on the topic can be a cruel reminder of a world that often feels very far away for parents in the rare disease community. Navigating the school system often looks different for these families. Some don’t get to see their children advance grade-to-grade, others struggle to have teachers understand an Individualized Education Program (IEP), while some children may have attended school in the past but no longer do so today, and others are missing a child who never had a chance to begin.
Read the blog on the back-to-school experience, featuring tips from rare families of many shapes and sizes, as well as resources that provide additional support.
| | Caring for the Whole Family: NTSAD's New Sibling Support Guide | |
When a child has a rare disease, it affects the entire family. Siblings have deep feelings, big questions, and serious concerns. They may feel different and isolated from their friends who just don’t understand. They may question their role in the family, or the importance of their needs in relation to their siblings.
The Sibling Support Guide is intended to serve as one resource in the ongoing effort to support healthy siblings as they navigate their lives as part of a rare family. It features age-appropriate information on Tay-Sachs, Canavan, GM1, and Sandhoff diseases, Q&A topics to help facilitate discussions, bereavement support strategies, and next steps on how to connect with the NTSAD community for further support when tending to a rare sibling’s unique needs.
| | Grief and Giving Back: Honoring Greyson's Legacy | | |
Kim, whose son Greyson had infantile Tay-Sachs, shares how caring for Greyson led her to find her passion in life, all while honoring his legacy.
“The NICU has always held a special place in my heart. Greyson spent the first twelve days of his life in the care of the amazing NICU team at Aurora Baycare in Green Bay, WI. Their compassion, skill, and support during one of the most important times in our lives left a lasting impact on our family.
Because of Greyson, I decided to pursue nursing. I graduated with my RN degree in May, and I am now working at Aurora Baycare in their level 3 NICU – the same place Greyson spent his first few weeks of life. Being able to care for babies and families during some of their most vulnerable moments is an incredible privilege, and I'm honored to begin this next chapter in the very place that helped shape our family's story.”
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Staff
Kathy Flynn, CEO
Becky Benson, Director of Family Support
Erin Demers, Development and Communications Manager
Valerie Greger, PhD, Research Director
Cynthia Perreault-Micale, PhD, Research Manager
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