A Pediatrician Living with Gaucher Disease: Chuck Goodman
Parents and doctors were concerned about Chuck Goodman's health from an early age. In fact, they thought he had a deadly case of childhood leukemia. At around age five, Chuck…
Parents and doctors were concerned about Chuck Goodman's health from an early age. In fact, they thought he had a deadly case of childhood leukemia. At around age five, Chuck…
On December 8, 2022, the Rare Disease Legislative Advocates (RDLA) hosted their monthly webinar. These webinar help provide updates to the rare disease community on legislation and other policy initiatives…
Hypoxic ischemic encephalopathy (HIE) is a type of brain dysfunction or brain injury that occurs when the brain is deprived of oxygen during fetal or neonatal stages. Treatment options are…
Unfortunately, life has not always been kind to Zahid Bashir and Sobia Qureshi. The couple lost two children to Pompe disease, a rare genetic disease caused by GAA gene mutations.…
Those living with diseases like Pompe disease and McArdle disease have genetic mutations which prevent their bodies from adequately breaking down glycogen, a type of complex sugar found at…