Genetic Testing: For Us, Knowing Our Son Had This Disease Meant More Control
My husband, Herman survived an aortic dissection, a tear in the wall of the aorta that causes blood to flow between the layers of the wall of the aorta and force the layers apart. It was a miracle he survived!
When doctors approached us about having my husband, Herman genetically tested we were very indecisive. But the more we started to go through his family history, the more we realized that something would probably turn up. Herman’s dad had to have emergency heart surgery after an aortic disection; his grandfather died of a heart attack. Or at least, we thought he had a heart attack. Herman has a number of aunts, uncles and cousins who have had abdominal aneurisms and aneurisms in their legs.
As it turned out, the genetic test showed Herman had Loeys-Dietz Syndrome, a genetic connective tissue disorder that can cause aortic aneurisms. I thought it interesting that there are specific traits that go hand-in-hand with this disease: a split uvula, overly flexible joints (double jointed), scoliosis, transparent skin and a concave chest wall, to name a few. Herman had a 50 percent chance of passing it on to our three children.
I work as a medical biller in the medical field and have seen instances where preexisting conditions are listed and used against someone. We were afraid of genetically testing our kids and having that label follow them the rest of their lives. In the end, though, we decided to have our kids tested because we wanted to feel like we had control of this disease. Herman informed his eight siblings of his genetic test results and suggested all of them be tested, as well.
Herman has a daughter from his previous marriage. Obviously, we couldn’t make her do the testing, but she agreed because of her two children. We didn’t give our own kids much choice about getting tested. All five of us went together to the genetics department and each was evaluated individually. They were counseled not to feel guilty if one of them had it but the others didn’t.
Michael was the only one who had it. The gene is not supposed to be sex specific but both of our girls were negative. Once you’re negative, you don’t have to worry about passing it on anymore. After Michael’s positive result, he had a MRI and CAT scan and discovered the aneurism near the aortic root.
I was devastated. Herman had made it to his 50s and Mike was only 17. The geneticist said it was small and that they would monitor it. But when he had his next MRI, they told us the aneurism had grown and more than likely, he needed surgery to repair it.
I felt blindsided. Michael was supposed to be leaving for his freshmen year in college and instead, was facing major surgery. All the “what if’s” started swirling through my head: What if we had we sent him to college and the aneurism had ruptured? Or what if he had been one of those kids who played intense sports? Who knows what would’ve happened?
We had information printed up for Herman’s family, letting them know they had a very good chance of not only having it but also passing it along to their children. What was amazing is that they saw it happen to Herman and Michael but somehow, it don’t think it became real to all of them until Herman’s youngest brother had an ascending aortic dissection—yes, another emergency where he was Lifeflighted and needed to have emergency heart surgery. (Sadly, this brother ended up dying after he was involved in a car accident, which caused the air bags in his car to inflate and hit his surgically repaired heart. He died of internal bleeding and heart failure.)
Herman’s insurance picked up the $4000 cost of his genetic testing. The kids’ testing cost a few hundred dollars because they knew what specific gene they were looking for. We gave Herman’s family the name of the gene so they could keep the cost of their testing down.
After Herman had this happen, his workplace created a job to accommodate him because he couldn’t lift more than 10 pounds. But three years later, the shop closed and he lost his job. We couldn’t let our insurance drop. I worked full time but I didn’t have insurance through my job because Herman always had it. We hoped he’d find another job, but he had so many restrictions. And then the economy crashed.
So I approached my employer— a solo practitioner for whom I did medical billing—about getting health insurance through them. They told me they’d look into it. Months went by. Maybe they looked into it or maybe they didn’t but when I didn’t hear anything, I started to look for another job—had to, really. I had to have health insurance. They called me in and told me that they knew I was looking for another job and if they found someone to replace me, I’d be out.
While we waited, we were paying $1200/month on COBRA and it was becoming more and more clear my employer was not going to come through. And then I lost my job—or more accurately, they replaced me. It was a blow because I had worked there for approximately 14 years (Michael was five when I started).
I didn’t have another job lined up yet, though I was working a second part-time job to help pay for all this medical care. My second employer was so kind. They gave me more hours and helped me get my foot in the door at the company where I am working now.
Now I work in a large company and have full benefits as well as working my second job doing medical billing for a large private practice group.
It’s all worked out for the better, really. When we found out about Michael’s heart surgery in July, I was still in my probationary period and had a 60-day waiting period before the new insurance kicked in on August 1. Michael’s surgery was August 24th and I felt terrible that I had just started and Michael’s heart surgery was going to cost $250,000. My new employer was nothing but supportive!
I worry about Michael’s future. I know laws exist that prevent employers and insurance companies from holding preexisting conditions against you but I think they’ll get you one way or another—hiking up your premiums, or something like that.
I worry about everything with him. Because of his condition, he’ll go from being a full time student to getting full time job. He will have to pick a career that won’t involve any heavy lifting or anything that will aggravate his condition. I do worry that he has to pick a path and stay on that path and not veer off it. He can’t decide to take a few months off and travel the world. He has to be a planner and make good choices. No more physical exertion. No more playing contact sports. Right now, he plans to be a history teacher and some day, maybe a principal or superintendent.
Herman is not very healthy anymore. He is having problems with his memory and is finding it very difficult to start over at 57. There are days that I feel sorry for myself and would love to stay in bed and pull the blanket up over my head and not have to deal with things. But honestly, I am the one who has to keep it all together, keeps us positive.
I feel blessed Herman is still alive and that he’s come this far. No, he’s not same person, and not able to do all the things he once did, but we’re still a family. And they saved Michael too…
What I Know Now:
The best thing we’ve done is to have the genetic testing done. I understand the hesitancy and concerns some people have in knowing whether or not they have a disease but knowing ahead of time and being prepared has created nothing but positive outcomes for us. Sooner or later, luck is going to run out. It is understandable why they don’t want to deal with it. If it’s a positive test, it’s a big deal and it requires action. My husband and son are constantly tested and whenever there’s pain that is out of the ordinary, the doctors take him in immediately. Yes, it’s a hassle but they’re still alive!
I know having the genetic testing does scares people. I know that because whenever I try to explain it to other people in our family, it is hard for them to swallow that it can happen to them. And I suppose seeing what Herman’s like now…it’s aged him. But if Herman had done the testing years ago and discovered he had this disease, maybe we could’ve found the aneurism and prevented the aortic dissection from happening in the first place? When you look at Michael, you can’t tell he’s had open heart surgery that saved his life.
My husband and son are absolute proof that it is better to know so you can do something about it.
Renee Genet is the mother of three children and lives outside of Akron, Ohio.
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