A family’s journey for answers
Kim Huitink was a freshman in high school when her father passed away suddenly and unexpectedly. The family was devastated; an autopsy showed he had passed from hypertrophic cardiomyopathy (HCM), a disease where part of the heart muscle cells enlarge, thickening the walls of the ventricles.
“Our family physician recommended the entire family get an echocardiogram to test for the disease. My aunt and cousin were diagnosed, but my brother and I did not show HCM,” explains Kim. “Our doctor told us you either had it or you didn’t, so we shouldn’t have to worry.”
For the next decade and a half, Kim’s life continued without giving HCM much thought. That is, until her son was born in 2000. Before leaving the hospital, her husband asked the pediatrician if there was any need for their son to be tested. The pediatrician recommended that not only their son be tested but also Kim.
She was retested, yet nothing was seen in her or her son’s echocardiogram. The same resulted when her daughter was born and tested a few years later. Kim and her children were placed on a five-year monitoring track with no symptoms or occurrences.
However, in 2011, Kim started noticing some reflux. She went to her provider and was given medication, but over the next few weeks her symptoms became substantially worse.
“I went back in and an irregular heartbeat on the EKG sent me to the ER, where I met Dr. Tom Stys from the Sanford Heart Hospital. I had full cardiac work up completed, and Dr. Stys told me I had the starts of hypertrophic cardiomyopathy,” Kim says.
Now, Kim knew she had HCM, but what about her children? They were being monitored, but nothing was showing up and hadn’t been for years. Her children’s pediatric cardiologist at Sanford Health recommended genetic testing to know more conclusively.
Kim decided to test herself first. She met with Kristen DeBerg, MS, CGC, genetic counselor at Sanford Heart Hospital. Through genetic testing, a mutation related to HCM was discovered.
“We tested my kids, and they tested positive for the same mutation,” Kim explains. “Now we are in a waiting period, figuring out where we need to go from here.”
Kim adds, “Knowing we are all carriers of the gene and the potential for it to develop is better than guessing ‘do we need to watch for it or not?’ There are so many things that can be done to monitor. Just knowing I’m being watched and my kids are being monitored for anything that could go wrong is a better alternative to the unexpected happening.”
Call (605) 312-2200 to learn more about genetic testing at Sanford Heart Hospital.
Posted Date: December 2017