The Penguin Plunge of Nyack was never meant to be an "annual" thing; it was just a couple of friends who wanted to put together a one-time winter plunge into icy Hudson River waters in southern Rockland County. If we were going to do something that crazy, we figured we should do it to raise funds for a good cause.

At only four years old, Jeremy Lankford already knew that he wanted to be a neurologist. Today, that dream has come true, but what makes that reality even sweeter for the now-veteran physician is that his expertise is focused on improving the lives of kids just like that young version of himself.

Dr. Mary Kay Koenig is a physician with many interests, from chemistry to neurology to children's care—but at the beginning of her medical career, she never could have guessed that mitochondrial medicine would be the specialty where all of her passions intersected.

Bob Coughlin, who today serves as an advisor to life science companies, was never one for thinking small or limiting his ambitions for rare disease patients. Learn how he and his family overcame the obstacles of cystic fibrosis (CF), raising awareness and money to search for a cure.

Dr. Chapman is a leading expert in PA and serves as the director of the mitochondrial disorders clinic at Children’s National. Learn more about Dr. Chapman’s work, and why she feels that clinical trials are a crucial pathway to rare disease therapies.

Descubre la terrible historia que tuvo lugar en 1989, cuando una mujer llamada Patricia Stallings fue condenada injustamente por la muerte de su hijo.

Descubre cómo el humor puede ser una herramienta increíble para proteger, conectar y dar ánimos a los cuidadores en muchos de sus momentos más oscuros y difíciles.

The Organic Acidemia Association is a non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. Learn more about their patient registry, a new Metabolic balancer app, and their newborn screening resources.

El tratamiento de la enfermedad renal crónica se complica por diversos factores, como la retención de líquidos, la anemia y los efectos en múltiples órganos del cuerpo. En la India, donde los tratamientos pueden resultar demasiado caros y estar fuera del alcance de la mayoría de la población, muchas personas han recurrido al yoga como terapia alternativa.

When Wendy White sees gaps in knowledge, she doesn’t wait for others to close them. She steps in and fills them herself. It’s this indomitable spirit and innovative problem-solving that led to her becoming a true changemaker in rare disease.

This episode of the DNA Today podcast discusses the function of the mitochondria, challenges of living with a mitochondrial condition, how primary mitochondrial myopathies (PMM) are unique, how the percentage of affected mitochondria correlates with the severity of symptoms, what Reneo doing to help diagnose more patients with PMM, and Reneo’s STRIDE study for treatment of PMM

En nuestra familia, el amor es infinito y la alegría, absoluta. En muchos aspectos somos como cualquier otra familia; sin embargo, ahora que nos enfrentamos a la decisión de tener otro hijo biológico, la realidad es dolorosamente diferente. Me siento abrumada por la incertidumbre, la posibilidad de que se produzcan errores genéticos y la fragilidad de la vida.

Rare advocates, such as Nadia Bodkin, are shining a light on racial and ethnic inequities in healthcare systems. Learn how Rare Advocacy Movement (RAM), co-founded by Bodkin, and the rare disease community are fighting to make care more equitable for all.

Defying the odds, Amy never thought she’d be able to have children. Her pregnancy was high-risk due to her own medical issues. However, she made it through her first trimester of pregnancy and was ready for an ultrasound at 18 weeks. Amy didn’t expect the doctors at her local hospital to tell her that her daughter would never walk or talk.

Learn about Mind-Body Interventions (MBI) and how they can help with IgAN symptoms.

Discover the benefits of yoga and how it can help with IgAN symptoms, and find out how to get started with a yoga practice.

The Genesis Foundation for Children is a non-profit organization that provides wraparound care for children born with rare diseases and genetic disorders. Learn more about their impact and the programs that they fund.

Like many rare diseases, Focal Segmental Glomerulosclerosis (FSGS) is full of surprises, but the main one often occurs at diagnosis. Read how Johnathan, Karen, and Talanda dealt with their unforeseen diagnosis and learned how to live with FSGS.

Cuidar de un niño con una enfermedad crónica puede ser emocionalmente agotador. Como madre de un niño con una enfermedad rara, Laura sabe que la tristeza se cuela de forma natural en los momentos de alegría. Al practicar y compartir la gratitud, Laura recupera el control y alivia esos momentos de miedo y dolor. Descubre el poder de la gratitud y descubre cómo el acto de dar las gracias transformó la forma en que Laura vive su relación con su marido, sus hijos y su vida cotidiana.

How can we advance knowledge research for a rare disease when there are so few patients? One important way is through a patient registry. Learn more about what a patient registry is and why should people with a rare disease join one.