Genetic tests help Denver father with heart condition determine whether it was passed to his children

Fourth generation Coloradan Nate Drinkwine didn't find out that he had the heart condition hypertrophic cardiomyopathy until his mid-20s.

Fourth generation Coloradan Nate Drinkwine didn't find out that he had the deadly heart condition hypertrophic cardiomyopathy until his mid-20s.

Hypertrophic cardiomyopathy, also known as HCM, is a genetic heart disease in which the heart muscle becomes abnormally thick, making it difficult for the heart to pump blood. It is also a disease that can lead to sudden cardiac death.

After Nate lost his father and uncle to the disease, he knew he had to get checked. He was diagnosed in 2003 with the same condition and underwent surgery in 2003 at age 27. After being put on multiple medications, surgeons implanted a cardioverter defibrillator to monitor his heart.

After Nate's wife, Kristina, became pregnant with their first child they wanted to make sure their child was healthy. The disease is transmitted as an autosomal dominant trait, which means there is a 50% chance that a parent with HCM can pass the gene to their child.

"When you have kids you want to make sure you are doing your absolute best to protect them," said Kristina.

With this in mind, the family wanted to be prepared early on to treat it, just in case. The Drinkwines then turned to Children's Hospital Colorado's cardiac team, the only pediatric cardiac genetics group in the state. The team is led by Dr. Shelley Miyamoto, who is also the head of pediatric cardiology and co-director of the Heart Institute. Over the course of nine years, Miyamoto and the team at Children's Hospital Colorado began to treat all three children, Tommy, Joey and Lena.

"Each of the children needed to be screened with an ultrasound of their heart and EKG so that we could continue to monitor over time whether they were going to develop the disease," said Miyamoto.

According to Miyamoto, HCM often doesn't present until adolescence years. This usually happens when kids experience growth spurts, which is why the Drinkwines' decided to move forward with genetic testing.

"When the kids were getting to that point where they were becoming teenagers and interests would develop we wanted to make sure we were setting them on a trajectory that they could really nurture what they love," said Kristina.

After receiving the news that none of the kids carried the gene for the disease, they family was filled with feelings of joy, relief and gratitude.

"As a parent, you have enough on your plate and often times it's better to turn things over to the professionals and to the doctors," said Kristina.

Tommy, is the first born child of Kristina and Nate and he says his biggest fear was his siblings carrying the gene. When he learned that none of them had it, he was beyond relieved.

"I just feel like my life would have been a lot more different had I had this gene I think it's important to be tested because it can really change someone's life," said Tommy.

The family leads an active lifestyle. They often go on ski and hiking trips and all three kids are all involved in sports.

Grateful for the gift of life and health, the family wants to share their story in hopes of getting others to become aware of the disease and the preventive measures available.

Despite it all, the Drinkwines' know the heart of life is good.

The family was able to get genetic testing through their insurance. Insurance coverage of genetic testing is variable, therefore it is encouraged for people to speak with their insurance provider. For the Drinkwine family, Children's Hospital Colorado was able to do targeted testing of the familial mutation.

Patients and families can typically see a genetic counselor at Children's Hospital Colorado within two to three weeks.

A genetic counselor can help families navigate the nuances of genetic test ordering that other providers like pediatricians may not have expertise in.