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HomeUncategorizedFamily Struggles with Rare Genetic Heart Ailment

Family Struggles with Rare Genetic Heart Ailment

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For thirty-one-year-old Dawn and thirty-four-year-old Steven Dybiec finding out that both their young sons, Steven and Gabriel, had Danon Disease, a rare genetic disorder, was devastating. When they discovered that Dawn was not only the carrier but also had the disease it shook their world and drastically changed their lives.

“At first we were in disbelief [when they got the diagnosis] because we didn’t want to believe that it was that. It’s such a rare thing. It didn’t seem right,” Steven comments.

“I feel guilty. I feel it’s my fault they have the disease, even though I know I shouldn’t feel that way,” remarks Dawn.

Danon Disease is a condition characterized by weakening of the heart muscle, (cardiomyopathy), and muscles used for movement (myopathy). Most affected men have thickening of the heart muscle that may make it harder for the heart to pump blood. Others have dilated cardiomyopathy, which weakens and enlarges the heart, preventing it from pumping blood efficiently.

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It is extremely rare. There are less than 300 diagnosed cases worldwide, however, there are probably many other people who have the disease but either it hasn’t been diagnosed yet or it’s been misdiagnosed. Men can only pass it on to their daughters, but women can pass it on to either sons or daughters. Left undiagnosed or untreated men generally live to only age nineteen, women to age thirty-four.

At this point, because her heart is only functioning at 5%, Dawn’s case is critical and she will need a heart transplant as soon as possible. She has had numerous obstacles to overcome just to get on the list for a transplant. Doctors tested her to make sure she was in good enough health to survive the transplant and that she had no other health issues. The transplant list is on a first come, first serve basis, so there are other people ahead of her.

The main obstacle, however, is financial. The transplant alone will cost between $1.2 million and $1.4 million. Steven’s health insurance will cover only 70% of that. Next, they had to prove that they could afford the anti-rejection medications that will cost approximately $22,000 per year. The only way they could show they were able to afford those expenses was via Steven’s 401K through work. However, if he takes the money out he will not only pay a penalty but will be barred from making any contributions to the 401K for a year.   

Expenses have been mounting since the boys, now seven and ten years old, were diagnosed and increased drastically when they found out that Dawn also had the disease. Both Dawn and the boys have been hospitalized numerous times. Once, both the boys were in the hospital at the same time. Dawn has already received a pacemaker. Currently, they have to pay $150 a week just for the medication that is pumped through a special intravenous device to her heart that is in place twenty-four hours a day, not to mention, the other medications she takes.

In order to defray Dawn’s medical costs, her mother set up a Go Fund Me account.  On her Facebook Page, Dawn’s mother stated, “This is Dawn’s life we are talking about. I have never had to beg for help before but I have to now. The boys need their mommy, I need my daughter, and Steven needs his wife.”

To contribute go to the following URL: https://www.gofundme.com/6ie19bs.  

Another fundraiser is being spearheaded by Shirley Lowe, a friend, and co-worker of Steven’s. On March 16, a drag show featuring Divas and Dudes will be held at the Heather House (the community building) at Clover Leaf Farms Mobile Home Park in Brooksville. Doors open at 6:30 pm and the show starts at 7:00 pm. Tickets are $15 and are expected to sell out fast. They can be purchased at the door. However, for a guaranteed seat, purchase in advance by calling Shirley at 978-273-9736 or Phillip at 904-273-9736. Credit card payments are accepted. You can also email [email protected].

The Dybiec’s long ordeal began when their youngest son, Gabriel, started having stomach issues. The doctors thought it was celiac disease. Both boys had also been experiencing severe pains in their legs. “They would wake up screaming with pain in their legs in the middle of the night. I would massage their legs. People kept telling me it was nothing, but my “mom gut” kept kicking in, telling me that something was wrong,” Dawn remarks.  Then all of a sudden, Steven was admitted to the hospital because his heart rate was elevated. He had a heart rate of 298 beats per minute. The doctors said if someone middle-aged or older had that heart rate they would have died. They put him in a tub of ice water to bring the heart rate down. It shocks your body and re-sets your heart. They had to perform heart surgery at All-Children’s Hospital in St. Petersburg.

Within two weeks doctors found out both boys had a problem. They decided to use genetics to figure out what exactly the condition was. It took six months to get the results back because they had to test each strand of DNA. The tests were very expensive. This was when they found out that Dawn also had the disease and she had to have a pacemaker implanted in March of 2016.

Both boys will need a transplant when they hit puberty. Although Steven is only ten years old, he’s physically mature for his age and puberty could kick in a lot sooner than normal. This means he would need a heart transplant very soon.

Danon disease has affected their lives in many ways. Neither of the boys can play sports or do normal things that other kids do. They can’t play with their friends or run around the block. They need therapy three times per week plus counseling and regular doctors visits.  With her voice cracking, Dawn states, “My oldest son gets very emotional. He’s afraid I’m going to die. He told me the other day, ‘I don’t want you to have the surgery. I want the doctors to fix the Danon another way. I don’t want you to die.’ He’s afraid I might die from the surgery. He’s very stressed out about it.”

There is no known cure, so the transplant will not cure the disease, but it will prolong life.

Although Dawn’s husband does not have the disease, he has to deal with the stress of seeing his wife and children suffer. He works fifty to sixty hours a week as a manager at a building supply company and has to take over duties that Dawn used to handle.

“I just push myself through it. I have to work [to support my family], be strong for everybody and take care of the family.”

Dawn finds her own way of coping. “I go numb. I try not to think about it because once I think about it… It’s scary. I know I have to be strong because I have to show the boys that it’ll be okay. It will be worth it in the end because they’ll still have me. I have faith. It’s in God’s hands.”  

To contribute go to the following URL: https://www.gofundme.com/6ie19bs.  

To attend the Divas and Dudes show on March 16th call or email: Shirley at 978-273-9736 or Phillip at 904-273-9736, or email [email protected].

Credit card payments are accepted.


Leslie Stein
Leslie Stein
Leslie Stein has over 35 years experience as a Speech-Language Pathologist working with neurologically impaired adults. She received her undergraduate and graduate degrees at the University of South Florida in Speech Pathology.
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