National Tay-Sachs & Allied Diseases Association

NTSAD’s Immediate Past President of the Board of Directors, Oralea Marquardt, LCSW, was recently among those invited to speak 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." #Community #Connection #Support #Research #Advocacy #Awareness #RareDisease #RareDiagnosis #TaySachs #Canavan #GM1 #Sandhoff #NTSAD

For the past five years, the NTSAD Family Services Team has had the privilege of speaking to first-year genetic counseling students at Mass General’s Institute of Health Professionals. This year, 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, 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 ethically, and how organizations like NTSAD can be an invaluable resource for supporting genetic counselors throughout their careers. #GeneticCounseling #RareisReal #Community #Connection #Support #Research #Advocacy #Awareness #RareDisease #RareDiagnosis #TaySachs #Canavan #GM1 #Sandhoff #NTSAD

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. View the advocacy letter here: https://conta.cc/4bGPeIh #Community #Connection #Support #Research #Advocacy #Awareness #RareDisease #RareDiagnosis #TaySachs #Canavan #GM1 #Sandhoff #NTSAD

Rare Disease Day may be over, but our care of and support for rare doesn't end. Families and individuals affected by Tay-Sachs, Canavan, GM1 and Sandhoff still need your support. Your donation of $28 or more, in honor of Rare Disease day, (February 28) will help sponsor our mission to serve families by fostering community, offering resources, and funding research. Please give today at ntsad.org #RDD #RareDiseaseDay #RDD2025 #Community #Connection #Support #Research #Advocacy #Awareness #RareDisease #RareDiagnosis #TaySachs #Canavan #GM1 #Sandhoff #NTSAD

Thank you for helping us make a BIG impact by supporting families and individuals affected by rare disease. There's still time to celebrate Rare Disease Day and honor rare families by making a donation of $28 or more at www.ntsad.org. #RDD #RareDiseaseDay #RDD2025 #Community #Connection #Support #Research #Advocacy #Awareness #RareDisease #RareDiagnosis #TaySachs #Canavan #GM1 #Sandhoff #NTSAD

NTSAD Proudly Supports Two Recent Advocacy Initiatives No Patient Left Behind – calls for halting staffing cuts at the FDA and empowering the agency to continue its vital role in ensuring the safety and efficacy of food and medicine. Without a fully staffed FDA, the U.S. biopharmaceutical industry and American patients may have to wait longer for new treatments. Act for Ultrarare – an effort that will help propel the necessary reforms to increase awareness, offer hope, and accelerate treatment options for the ultrarare disease community. #Research #Advocacy #Awareness #Community #Connection #RareDisease #RareDiagnosis #NoPatientLeftBehind #SupportTheFDA #PublicHealthMatters #PatientAdvocacy #ActForUltrarare #UltrarareDiseases #TaySachs #Canavan #GM1 #Sandhoff #NTSAD

Every year at the Annual Family Conference, NTSAD presents two 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 NTSAD, 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, including caregivers, providers, etc. If you would like to nominate someone for either the Power of One or Above and Beyond awards, to be given at the 2025 Annual Family Conference, please message us by March 1, 2025. #NTSADAFC2025 #Conference #Dallas #Texas #Community #Connection #Support #Research #Advocacy #Awareness #RareDisease #RareDiagnosis #TaySachs #Canavan #GM1 #Sandhoff #NTSAD

Early Check Genomic Newborn Screening in North Carolina Now Includes GM1, GM2, and Canavan Diseases! Early Check genomic newborn screening provides free health tests to new babies born in North Carolina. This is a voluntary research study that offers screening for about 200 serious health conditions after the standard newborn screening is completed and using the same sample collected from the state at birth. We are thrilled to announce that after NTSAD nominated the HEXA, HEXB and GLB1 genes for inclusion into the Group 2 panel, Early Check decided to add them to the screen The ASPA gene related to Canavan Disease was already on Early Check panel. Now, all of the conditions represented by NTSAD are part of this study. We encourage parents in North Carolina to take part in Early Check’s newborn screening. Health conditions could be identified in babies earlier, and knowledge is power! To learn more, visit: https://earlycheck.org/ #NTSADAFC2025 #Conference #Dallas #Texas #Community #Connection #Support #Research #Advocacy #Awareness #RareDisease #RareDiagnosis #TaySachs #Canavan #GM1 #Sandhoff #NTSAD

UMass Chan Medical School's "Rare Diseases, Real Stories" is a special podcast series that celebrates families who are transforming the world of rare diseases, including Catherine, who has Tay-Sachs Disease, and Noa, seen here, who has Canavan. Listen to all episodes wherever you get your podcasts, and see each page at the link below: https://direc.to/msW5 #RareDiseases #podcast #RareDiseasesRealStories #RDD #RareDiseaseDay #RDD2025 #Community #Connection #Support #Research #Advocacy #Awareness #RareDisease #RareDiagnosis #TaySachs #Canavan #GM1 #Sandhoff #NTSAD