Listener Vivek got in touch with a question about a rare genetic disease his son has, called FOXG1 Syndrome. In fact, it's so rare - and so newly-discovered - that only about six hundred people in the world have been diagnosed. Kids with FOXG1 have severe developmental delays; in Vivek's words, "everything that can go wrong - it's gone wrong with him." But the parents of FOXG1 children have been unusually tenacious when it comes to shaping the course of science. In this programme we meet those people blurring the line - metaphorically speaking - between the brain and the heart.

Rare disease is anything but rare. As many as 7,000 rare diseases affect 400 million people globally. The vast majority are not well understood, and less than 5% have approved treatments. Yet worldwide, patients are meeting these challenges head on. The Rare As One Project is committed to uniting these communities in their quest for cures.

Celebrating Rare Disease Day 2019, The FOXG1 Research Foundation, today, launched the critically important FOXG1 Syndrome Patient Registry developed in collaboration with Stanford University and digital health company, Beneufit.

By the time her mother received the doctor’s email, Yuna Lee was already 2 years old, a child with a frightening medical mystery. Plagued with body-rattling seizures and inconsolable crying, she could not speak, walk or stand.

“Why is she suffering so much?” her mother, Soo-Kyung Lee, anguished. Brain scans, genetic tests and neurological exams yielded no answers. But when an email popped up suggesting that Yuna might have a mutation on a gene called FOXG1, Soo-Kyung froze.