Radical Optimism in Rare Disease with Dr. Kathryn Swoboda

Show Notes

In this episode we speak with Dr. Kathryn Swoboda, a neurologist at Massachusett's General Hospital specializing in Spinal Muscular Atrophy is in conversation with co-host Artemis Joukowsky her patient of over 20 years. Today's show focuses on SMA, a rare neuromuscular disease. We track a twenty-year journey leading to three breakthrough treatments. We talk about balancing the cost of treatment with the value of human life, what impact can newborn screening have on the treatment of a disease, and how can research for one disease affect research in other diseases.

What is The Genetics of Hope?

Candid conversations with leading doctors, patients, researchers, and families in rare disease communities.