SHER

I’m not just advocating because I am personally affected, alongside my daughter Amelia, who has a rare condition known as #SYNGAP1 . The recent cuts to NIH funding, Section 504, DEI initiatives, the Department of Education, and other critical programs threaten the future of our most vulnerable populations living with rare conditions and disabilities. My motivation extends beyond personal experience; it is rooted in a strong humanitarian perspective. Without sufficient support for research, science, and education that safeguards children with disabilities from discrimination, countless individuals will continue to suffer, while those in positions of power remain insulated from the consequences. The burden will fall on those who lack access to the healthcare and medications that my daughter depends on—particularly individuals from low socioeconomic backgrounds and minorities who have long been marginalized by the medical system. I have made the choice to stand up and change this narrative. Everyone deserves a voice and the opportunity for a better future. That’s why I am here in Washington, D.C. this week, supporting the SynGAP Research Fund (SRF) for SYNGAP1-Related Disorders and SHER (Sociedad Hispana de Enfermedades Raras) at Rare Disease Week organized by EveryLife Foundation for Rare Diseases for Rare Diseases ?????? While I may not know how much of a difference I can make, I am committed to making my voice heard during my upcoming meetings with Congress. I will advocate for Amelia and all our loved ones in the Hispanic community who are affected by Syngap1 and other rare diseases. Together, we must strive for a brighter future for those impacted by debilitating conditions like Syngap1. SHER #AdvocateForSyngap #Syngap1 #RareDC2025 #SyngapResearchFund #TogetherWeCan

En este primer episodio de 2025, tenemos el honor de conversar con la Dra. Jessie Reynoso MD, FACMG, FAAP, destacada genetista clínica originaria de la República Dominicana y experta en genética médica. La Dra. Reynoso comparte con nosotros su valiosa experiencia en el Hospital de Ni?os de Filadelfia, donde profundiza en su trabajo sobre trastornos del neurodesarrollo y errores innatos del metabolismo. Además, nos ofrece una perspectiva sobre las colaboraciones con países de América Latina y el impacto del aprendizaje a nivel internacional. Lo más inspirador es su recordatorio sobre el poder transformador de la educación en el diagnóstico y tratamiento de enfermedades raras. Este episodio está lleno de determinación y esperanza para nuestra comunidad. Escucha y suscríbete!?? https://lnkd.in/gHWyMisv Deborah Requesens | Victoria Arteaga #masqueraras #enfermedadesraras #pacientesraros #espanol #podcast #raredisease