November 12, 2019

The minute you learn your child has a diagnosis of a terminal illness, you die too. You are not literally dying.  It is a psychic and emotional death since your old life has come to an end, and the person you were must cease to exist.  

That is why the we...

August 15, 2019

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 pricin...

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, a...

August 2, 2019

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 fr...