When My Newborn Screening Test Wasn’t OK: a Rare Disease Day Story

Every baby gets a newborn screening test, not every mother gets the news that the baby is OK. For me, the news was that baby needs a second test. And a third, and so on for 26 years. For Rare Disease Day, my daughter Lillian Isabella and I talk about how this actually happened. In … Continue reading When My Newborn Screening Test Wasn’t OK: a Rare Disease Day Story

Health Reform: An Open Letter to HHS

Dear HHS, I am writing to ask you to include medical foods for the treatment of phenylketonuria, PKU, and similar inborn errors of metabolism as an essential health benefit under the chronic disease management category. Has Genetics, a relatively new field of science, ever improved the public health? I will argue that is has, and that … Continue reading Health Reform: An Open Letter to HHS