This post will not make you cry. It will not make you laugh. It could, however, save a life.
Ask anyone about me and they will mention any number of things- positive and maybe negative- but they will not mention anything about my state of health. Aside from heightened cholesterol like a large percentage of people my age, I have no other medical conditions.
Or so I thought- until one day in July when my husband and I were walking in the mall and I suddenly got dizzy. I continued walking and didn’t think much of it, but then a week or two later, it happened again and seemed a bit more severe.
I made an appointment with my doctor (previously known as Dr. Nonchalant) and he suggested that I have an echo-under-stress test. Taking him seriously and because I had just a week before I was leaving for Ecuador and the Galapagos Islands, I was able to schedule a test for later that day and had the results in hand by about 4 that afternoon. The doctor called me and said that what they had found was completely unexpected- my valves were fine, but now I needed an echo cardiogram to confirm the diagnosis. I scheduled that for 3 days later.
It confirmed the diagnosis. I have hypertrophic cardiomyopathy. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
In most cases, an affected person has one parent with the condition.
Fortunately, this is a treatable condition. It is, however, often the cause of sudden death in young people after exertion. Think of the runners, football players, basketball players, etc. who suddenly keel over and die. These articles suggest screening young athletes for the condition. (Please don;t stop reading here- there’s more important information…)
Screening athletes for heart disease
Screening for Hypertrophic Cardiomyopathy in Young Athletes
Hypertrophic cardiomyopathy screening program in the athlete
The doctor suggested that all of my children be tested and if any were affected, their children be tested. We are going through that process in an attempt to identify if any of them are at risk. My children who are not affected do not have to test their children because it being a dominant gene, if the parent doesn’t have it, the children won’t.
I spent a lot of time thinking about whether there were any deaths of young people in my family and remembered that I had two cousins, brothers, who died of heart attacks- one at 31 and one at 39 (I may be off by a couple of years, but I think it’s accurate). These are the sons of my father’s sister. That would mean that my father and his sister both carried this gene. There are other family members who could be affected- at least five young people- and I hope their parent/grandparent who is a possible carrier will choose to be tested.
So why am I writing this? People sometimes like to hide unpleasant things from their family members- but secrets, particularly those that could affect someone else’s health, are rarely a wise thing. What my children or grandchildren may have gotten from me genetically is not something I had any control over, but I can do whatever I can to make sure they are protected, don’t over-exert themselves, and make sure to have regular medical follow up. I hope that my cousins will take the same responsibility with their children and grandchildren.
May we all have a healthy, happy new year.