“If I had known then what I know now, I wouldn’t have been so scared.” Alex is the mother of Hudson, a boy living with hypochondroplasia, a rare form of dwarfism.

Alex joins David Rintell, Head of Patient Advocacy at BridgeBio, and Mandy Rohrig, Director of Patient Advocacy at BridgeBio Gene Therapy, to speak about her son, Hudson. Before Hudson’s birth, Alex and her husband learned that Hudson would be born with hypochondroplasia. A genetic counselor helped her to understand the diagnosis. Although Alex is a medical professional, she had never heard of this condition, and the many unknowns of this new diagnosis left Alex feeling scared. However, all these fears were put aside when she held Hudson for the first time. At five days old, Hudson had breathing problems and Alex had to perform CPR on him. Hudson was later diagnosed with severe obstructive sleep apnea and needed to be on oxygen therapy. Alex describes the learning curve that she and her husband experience as they learned to care for Hudson and anticipate some of his early medical needs. Now at 20-months-old, Hudson is a happy little boy who loves to read, walk, and babble, and is adored by his older sister.

Teja Reddi, Ph.D., a Senior Director of Strategy and Operations of Skeletal Dysplasias at BridgeBio, explains that although hypochondroplasia is a milder form of dwarfism than achondroplasia, the condition can cause some medical complications. Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Teja also talks about the challenges of underdiagnosis and the hope for more research to improve the lives of people with hypochondroplasia.

Please note, the views and opinions expressed in this episode of On Rare are those of Alexandra and do not necessarily reflect the official policy or position of BOLDSCIENCE.