MPS-1 had recently been added to the newborn screening panel when Minette was born, leading to an early diagnosis and the first stem c

After Shavonn Burgess got her daughter’s diagnosis, she had no idea how her family would cope.

Nose bleeds are a less frequent tradition in the Gutowski family now as a team of doctors work together to treat their abnormal blood

Living with a rare disease can be isolating, especially when doctors don’t know the condition exists in the first place.

With new treatment, doctors hope to slow the progression of rare genetic eye disease and prevent blindness.