To test or not to test – It was never really a question


Genetic testing: Jumping off the cliff into a heart-shaped pond. Enlightening, but tumultuous waters.

“I have my suspicions as to the genetic basis for you and your brother’s cardiac events. I do think it is genetic. We might be able to find out with genetic testing. We might not, it wouldn’t mean it isn’t genetic. There are a lot more gene mutations that we can test for than there was when you first had your event. But you have to think about what you would do with that information, what it means for you, your children, your family members.

I would recommend testing, but talk with those you love, know what you’ll do with that information once you have it. In the meantime we’ll petition your insurance to pay for this. It could cost several thousand dollars”

That isn’t exactly what the new cardiologist said to me last year, but it’s close.

For me genetic testing was a no brainer, the answer to nearly 20 years of questions, but still I took it to my husband, to my father and mother and asked. unequivocally and unanimously they agreed.  How could we not find out? This was a little surprising as one of my parents had said previously that they were glad they hadn’t know before my brother died, otherwise they would have wrapped him up in cotton wool and never let him truly live and that would have been a crime too. Of course, that was before I went down too.

How could we not do the genetic testing? The information might answer the question  What killed my brother? What almost killed me? but more importantly what risks did my children, my cousins and their children face?

If my children, my cousins had the gene there was something that could be done. No, not a cure, that doesn’t exist for conditions like ARVD. Not yet. Having the information lets us mitigate the risks as best we can.

Like it or not we knew that this was a genetic condition, although I hoped it might be that 1 in a trillion chance it wasn’t, that it was some sort of environmental tetratogenic issue that affected both my brother and I. Knowledge was power. Moreover, not knowing didn’t make it not so.

So we tested. We got the results and we’re making a plan.

Just a week ago I lay, resplendent in my jeans and a hospital gown, and talked with an echo tech as he looked at the function of my heart.

“I have ARVD. My seven-year-old has it too. We just found out. We just told her. Do you see many people with ARVD?”

Not surprisingly for an academic hospital with a bunch of cardiac research projects, he sees a fair number of folks with ARVD. We talked about how difficult it was to come up with the right words to tell your child they have a life-threatening chronic and progressive disease. How it was important to be honest, but gentle with kids. And then he mentioned that there are patients with ARVD who choose not to tell their families, to not test their children, to hope that it will all just go away. After all, what is there that they can do? And I get it. I get why you might not want to test. I get why it feels futile, and the feeling of helplessness could be overwhelming and why would you choose to live like that? The temptation to wrap my beautiful girl up in cotton wool is great, but that would not be a life. Not testing, but knowing there was a 50:50 chance your child has the disease seems even more worrying. What if you didn’t test and then something happened, something you could have prevented. Would you be less likely to wrap them in cotton wool and limit their life? Testing meant a 50:50 chance we would hear that my child didn’t have the mutation and we wouldn’t have to worry about that any more at all.

Last week, I told my parent that originally had said they were glad we hadn’t known about my brother’s condition prior to his death of my daughter’s genetic results. They sighed, “I’m so sorry honey. This isn’t result we wanted, but now we know and we can do something. If we’d known this about your brother he might be here today.”

Knowledge is power. It doesn’t make ARVD less terrifying, but knowledge gives me a little sense of control. Knowing that we have this mutation in our family means I know I will do everything in my power to protect my child be it using medication and making sure there is an AED at her school to an implantable AICD; signing up for an ARVD registry to raising awareness about ARVD and cardiac death in the young; and finally campaigning for research fund for a cure.



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