Drew and Rachael found out very early that their son, Jonnie, had a heart condition. After surgeons closed a hole in Jonnie’s heart, they hoped that would solve his health issues. It wasn’t until a couple years later when they took Jonnie for genetic testing that they began to get some answers.
Early in his life, doctors diagnosed Jonnie with patent ductus arteriosus (PDA). He was receiving care for a respiratory infection when doctors found a heart murmur, multiple aneurysms and a hole in the heart caused by PDA. Jonnie had surgery to fix the hole in his heart, but optimal health still eluded him.
“We didn’t understand why he was facing all these challenges,” says Drew.
After a couple years of missing growth and health milestones, someone suggested that Drew and Rachael take Jonnie for genetic testing. Suddenly, everything made a lot more sense.
Through genetic testing, the family discovered that Jonnie had multisystem smooth muscle dysfunction syndrome (MSMDS), an extremely rare disease that affects a key protein that makes up smooth muscle throughout the body. Only about 50 people (mostly kids) have this condition in the entire world.
“Everything we’ve been chasing down started to make sense based on that diagnosis,” says Drew.
After the MSMDS diagnosis, the geneticists told Drew and Rachael that they should go see Dr. Kathyrn Chatfield at Children’s Hospital Colorado immediately. Dr. Chatfield is a genetic pediatric cardiologist and has treated all the cases of MSMDS that have come to Children’s Colorado.
“It changed our life and it changed Jonnie’s life,” says Rachael.
With the information they learned from genetic testing and through working with Dr. Chatfield, they no longer guess about which care will help Jonnie but can proactively plan for his treatment. And because Children’s Colorado offers multidisciplinary care, Dr. Chatfield can recommend specialists who are all under one roof and can even plan for Jonnie’s team to meet all at once.
Learn more about pediatric cardiac genetics and our Heart Institute at: https://www.childrenscolorado.org/doctors-and-departments/departments/heart/?utm_source=youtube&utm_medium=social&utm_campaign=slr_heart
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