Hello NTSAD,

As we approach our 47th Annual Family Conference in Dallas in just three weeks, we are filled with anticipation and look forward to learning from one another, supporting each other, and connecting in meaningful ways.

We are incredibly grateful to our sponsors for their continued support, to the researchers and industry members who will be sharing valuable updates, and to the Wright/Harris family for their warm Lone Star State hospitality. We look forward to an inspiring and impactful gathering in Dallas!

While we are excited and focused on the upcoming conference, NTSAD remains committed to staying informed about current developments and advocating for the needs of our rare disease community.



Warm regards,

Kathleen Flynn, CEO, NTSAD

NTSAD Annual Family Conference | April 24-27, 2025 |Dallas, TX

For 47 years, NTSAD's Annual Family Conference has provided individuals and families living with Tay-Sachs, Canavan, GM1 gangliosidosis, or Sandhoff disease:

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

What we look forward to in Dallas:

• New Attendee Orientation Session
• Camp Snuggle and Camp Active for children living with Canavan, GM1, Sandhoff, or Tay-Sachs
• Camp Sunshine and Youth Group for the siblings
• A robust Research Day including an industry panel discussion and breakout sessions for each disease to learn more about studies, research, and trials
• Empowering Families through Advocacy Session
• A Texas BBQ and country music concert
• Health and Symptom Management Session for families caring for younger children
• Sessions for adults living with Late Onset Tay-Sachs and Sandhoff diseases
• Support sessions and simply time to connect in NTSAD's Family Lounge

DEADLINE:

Today is the last day to make your hotel reservation under NTSAD's discounted room rate. If you have not registered or made your hotel reservation, please do so by the end of the day.

To learn more about the NTSAD Annual Family Conference, visit our website here.

Thank You to our 2025 Annual Family Conference Sponsors

The Annual Family Conference experience is made possible by the generosity of friends, supporters, and industry partners. We gratefully acknowledge the sponsors of our upcoming Annual Family Conference.



View the list of sponsors here

NTSAD: Advocating, Raising Awareness, Advancing Research

Empathy in Delivering a Diagnosis

For the past five years, the NTSAD Family Services Team has had the privilege of speaking to first-year genetic counseling students at Massachusetts General Hospital's Institute of Health Professions.

In March, Family Support and Engagement Manager Becky Benson not only shared her personal story of her daughter Miss Elliott’s diagnosis with infantile Tay-Sachs, but was also joined by other members of the rare disease community. Among them were Crystal Villalobos, mom to Cayden, who had infantile Sandhoff, and an individual diagnosed with the late-onset form of one of the diseases NTSAD supports. Together, they discussed the importance of delivering devastating news gently, and how organizations like NTSAD can be an invaluable resource for supporting genetic counselors throughout their careers.

Gordon Research Conference on Lysosomal Diseases

Researchers and clinicians from all over the world, including NTSAD's Research Director, Valerie Greger, gathered at the prestigious Gordon Research Conference on Lysosomal Diseases from March 2-7 in Pomona, CA, to discuss the most recent developments, share unpublished findings, make new connections, and engage with other researchers.

Presentation topics ranged from basic research on lysosome biology with the potential for new treatment avenues to preclinical studies and clinical applications. How to make treatments more accessible and less cost prohibitive was also discussed. In particular, gene therapy was an ongoing discussion throughout the conference, and new technologies, such as vector capsid engineering and alternative delivery vehicles, show promise to achieve this goal. 

Advocating for Rare Research

NTSAD’s Immediate Past President of the Board of Directors, Oralea Marquardt, LCSW, recently spoke at Florida State University Institute for Pediatric Rare Diseases (IPRD)’s Rare Disease event. Mom to William who died from GM1 Gangliosidosis in 2014, Oralea shared, “despite the progress made, there is still so much work to be done. Families facing rare diseases continue to endure lengthy diagnostic odysseys, struggling for answers while precious time slips away. Parents are left to piece together care plans with little guidance, all while facing the financial, emotional, and social toll that rare diseases impose on an entire family system.”

The event provided a forum for university and state leaders to lay out the future plans for IPRD and highlighted the work already underway at the institute, which was launched less than two years ago by Rep. Adam Anderson (R-Palm Harbor), dad to Andrew who died in 2019 from Tay-Sachs Disease, and FSU President Richard McCullough. Adam spoke about the Florida House Bill 907 he is championing — the Sunshine Genetics Act — which aims to position Florida as a national model with free, opt-in newborn genetics screening and to establish a consortium of Florida’s universities, children’s hospitals and industry professionals to coordinate and collaborate on research and cures for rare diseases.  

Kevin Romer, dad of Mathew who died from Tay-Sachs Disease in 2009, co-founder of The Mathew Forbes Romer Foundation, and active member of the NTSAD community, was also present to advocate for rare disease research in his home state.

Oralea underscored the need for rare disease research, saying, “This is why the work being done here at FSU is so vital. Their initiatives—such as genomic research to enhance newborn screening, shorten the diagnostic journey, and advance treatments, as well as clinical interventions to improve care and education for healthcare providers—are crucial steps in transforming the rare disease experience. No parent should have to face a complex medical system alone or struggle to find doctors who understand their child’s disease.”

Resources for Families

Family Support - Neurology Toolkit

The Child Neurology Foundation's Child Neurologist New Visit Toolkit is now available.

Before your first appointment with a neurologist, or when seeing a new one. Simply download the form, print it, and bring it with you to the appointment. Be sure to keep an electronic or paper copy for your records. This toolkit will serve as a valuable resource to help track your child’s progress and ensure they receive the best care possible.

Mission Moment: Meet Nathanial

"Nathanial, "Nate," is two and a half years old. Last month he was diagnosed with late infantile GM1 Gangliosidosis. Nate loves watching Ms. Rachel, Mickey Mouse, Bluey, and Puppy Dog Pals. He loves music, to laugh, play, and bounce. He loves his toys, his trucks, and his pets. He loves going to visit his three best buddies and going for walks as a family. He loves to snuggle to fall asleep. He loves to eat. There aren’t many things that don't make this sweet boy smile. 

Though Nate has been on a challenging journey over the last year to be diagnosed and will continue to have a challenging life ahead of him, he has never lost his smile, nor his determination to never stop trying, even though things are hard to do. He continues to remain the happiest little boy he is. 

It’s because of that smile that we will always smile for him and the joy that he brings to our family. He is a mighty little man who inspires through his resolve and reminds us to enjoy each day, because every day isn’t promised."

- Francie, Nate'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