The type of family history I’d like to comment on here now is one that in many ways I’d care not to re-visit, however to not bring it up or make it more broadly known would be negligent and irresponsible. I’d also like it to be clear this is not a means of attention seeking, in fact comments of condolences (while truly appreciated) are not required here. This post is meant to be proactive, for information and foreknowledge only.
On Jan.18 2000 at the age of 17 our son Shawn passed away, while in school, during his Drama class. In some ways he may have seen some irony there, that was just the kind of humour he could relate to, but the truth of it is there was nothing really funny or comical about it. The facts are that he collapsed, numerous heroic attempts at resuscitation failed, and many people’s lives changed significantly and forever.
Rumours began to circulate as to the cause of his death, as one might imagine. As a parent this was hard to hear, hard to believe that the negative and dark side of human nature could be seen so rapidly. Hard to believe that this was how people, strangers, choose to categorize this painful event.
The truth, as it came out later, was that the cause of death was Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), a congenital heart defect. Where and why were some of the questions that we pondered, where did this gene come from and why did it affect us, why did it show up in our family. To quote an article from “Cardiac Risk in the Young” (http://www.c-r-y.org.uk/arvc/):
The pattern of inheritance is known as ‘autosomal dominant with variable penetrance’ meaning the child of an affected parent will have 50% chance of inheriting the abnormal gene, but will not then necessarily go on to have the condition.
Essentially the ‘bad’ gene was inherited somewhere along our genetic lines, from which side of our family we do not know. We contacted as many of our family as we could, to inform them and to be proactive. Many were tested however none were identified as having the gene and no further situations occurred.
In short I would again remind you this blog and short history is meant to be proactive. If you know someone in our extended family you think may benefit from this information please share. I’d be happy to chat with anyone who has questions.
More information can be found at either of the sites below, or just by Googling ARVC: