FDA’s mixed signals call its commitment to rare diseases into question: Guest Commentary

When my son was diagnosed with Hunter syndrome (MPS II) 13 years ago, I was devastated. I had never heard of the disease, and I never dreamed that my son would be anything less than perfectly healthy. I was determined to breastfeed him for two years so that he wouldn’t develop my asthma, which I struggled with as a child. This was my biggest concern. I was so naïve. I didn’t know the whole world of rare diseases existed.

The geneticist told me that Hunter syndrome was a progressive and terminal illness, and to come back to see them when he could no longer walk and needed a wheelchair, a safe bed, and other equipment I would need for him. He would likely die in his early teen years...