When a father and his two kids developed an array of peculiar symptoms, doctors, Brazilian researchers and the NIH partner

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.