Yesterday's New York Times featured an editorial about the cost of gene therapy and the recent controversy surrounding Norvatis's gene therapy for SMA. Here is co-founder, Maria Kefalas' response to the New York Times. Today’s opinion piece on the gene therapy pricing debate was disappointing, to say the least. You offer a definition of SMA that looks like it was lifted from Web MD and then you launch into this same old pricing debate and diatribe about the FDA. You also di

Filmmaker Joanna Rudnick travelled from California to spend time with Cal and tell her story. We were honored to be featured among seven rare disease advocates around the nation who were spotlighted by the Chan Zuckerberg Initiative. There is a power in storytelling, and we hope our story shows that even something as simple as selling cupcakes in a parking lot can make an impact.

Cal's Foundation was one of seven rare disease advocates from around the United States featured by the Chan Zuckerberg Initiative. Filmmaker Joanna Rudnick spent time with Cal to tell the story of Cal and the cupcakes and how something as small as selling cupcakes in a parking lot can become so much bigger. #cupcakes #ChanZuckerbergInitiative #rareasone #leukodystrophy #curesnow #breakthrough #genetherapy #raredisease #advocatelikeamother

Seven years ago, the doctor came into our hospital room at the Children's Hospital of Philadelphia and pulled up a chair and told me :"We think your daughter has a disease called metachromatic leukodystrophy or MLD." D-day comes around my birthday and so this period from June 26th to the 5th of July, when David Wenger would confirm the MLD diagnosis, is challenging to say the least. But each year, as I meet newly diagnosed families, I get to tell them how Cal was not supposed