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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