We don’t ask the question “Why Addison?” too often. It’s a futile exercise in frustration because sometimes s*!t just happens and to dwell on the bad luck, misfortunate, juju etc that got us to where we are today accomplishes nothing. Of course when we first landed in the ICU, we had a constant stream of specialists who paraded through our room with their forms and questionnaires. How was the pregnancy? How was the delivery? How is our health? Any history of heart problems? Any history of weird infections? On and on. Everyone trying to solve the mystery of “Why?” and “How did this happen?”
Nearly three years later and no one had any answers, until we finally got a consult with a genetic counsellor in February. We were told the likelihood of finding anything was unlikely because there are only a certain number of genes that are known to be linked to heart defects, but we wanted to exhaust all possibilities. Studies have shown a definite genetic component to noncompaction cardiomyopathy (also known as left ventricular noncompaction LVNC). This excerpt stuck out for me: “All first-degree relatives (i.e., siblings, parents and children) of an individual with an autosomal LVNC gene mutation have up to a 50% risk of harboring the same mutation.”
In BC, the Medical Services Plan (aka the Provincial Government) has to approve each request for genetic testing because it costs thousands of dollars for the full panel. I have been told in other jurisdictions all children with serious cardiac defects, especially those who require transplant, are automatically tested. Not the case in our province.
Last week we got the surprising results. Addison has a genetic mutation on the MYH7 gene. You can google it like I did or just click HERE. Basically, this gene is responsible for making a protein that is found in cardiac and skeletal muscle tissue. In hearts, the protein generates the mechanical force needed for muscles to contract. Changes in this gene are associated with noncompaction cardiomyopathy and have a strong correlation with other heart defects. Tests also show Addison has two other genetic variants, but these are considered “variants of unknown significance” because at this time it is unclear what effect these may or may not have.
So what happens from here? Now our genetic counsellor has applied to MSP to get Aaron and I tested for these same mutations. She suspects Addison’s case may be what’s called de novo, or a new mutation only present in her and not passed down from one of us. It could take days for a response…maybe months. And there is a chance the province will say no. At that point we could opt to pay for the testing ourselves.
Though we do have an answer to “Why Addison?”, it leaves us with even more questions. And at the end of the day, it doesn’t change our lives right now. We still have a willful and opinionated three-year old who keeps us running all day (and sometimes all night).
Elaine, Aaron and Addison