Jonnie’s Story: Improving Care through Cardiovascular Genetics
Jonnie had heart surgery very early in life but it wasn’t until years later that doctors and his parents fully understood his condition. He missed growth and health milestones for a couple years.
“We didn’t understand why he was facing all these challenges,” says his father, Drew.
Drew and Jonnie’s mother, Rachel, took him for genetic testing. Suddenly, everything made a lot more sense.
Jonnie has multisystem smooth muscle dysfunction syndrome (MSMDS), an extremely rare disease that only about 50 people (mostly kids) have in the entire world. Dr. Kathryn Chatfield, a genetic pediatric cardiologist, treats three of them at Children’s Hospital Colorado — and now Jonnie.
“It changed our life, and it changed Jonnie’s life,” says Rachel.
#CardiacGenetics #PediatricCardiology #Shorts
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