Genetically Speaking

When I was 11 years old, I witnessed my first seizure.  My father fell to the ground like a sack of potatoes steps outside of my bedroom door. I was terrified. I thought he had died. I will never forget that day. My father did not have epilepsy. Instead, he had seizures as a result of a stroke he had suffered at the age of 46. It was a while before they were able to control my father’s seizures with medicine and despite being seizure free for many years following his stroke, in the end, it was colon cancer that took him from us a mere 13 years later. They say that colon cancer is hereditary and that it is caused by a gene mutation. Genetically speaking, I am at risk of having colon cancer at some point in my life. Genetically speaking, I am flawed.

When Pepper was taken to Sick Kids the very first time she presented with seizures, we were asked if there was a family history of epilepsy. Neither my husband or my myself have any family history of epilepsy. In fact, aside from the seizure I had witnessed of my father’s, and maybe a little dog that had a seizure once, I had never seen anyone have a seizure until Pepper. We were asked many probing questions about our family history. The strangest question we were asked was if we were related. I had to ask the doctor to repeat that question. Did she mean by marriage? Because yes, we are in fact married. You see, if it wasn’t obvious from the pictures on our blog, we are not even the same race. Our families were born and raised in very different parts of the world. Our DNA couldn’t possibly be shared.  It’s not. Don’t worry, I wasn’t going to confess some bizarre intercontinental family secret.  

Pepper has a genetic mutation. The full test results are not complete, but we have received the majority of her genetic scan back. She does not appear to be carrying the sequence responsible for Dravet Syndrome. She does however have a “previously unreported heterozygous variant” in one of the genes responsible for a severe form of epilepsy. What this means in the short term is that we have determined that her epilepsy is likely caused by this gene variant. It also means that treatment for her is limited and as a family, we must all be tested to see if we are carriers (her big brother included). What this also means is that her clinical outlook is unknown. It’s new. It’s “previously unreported”. Basically, “you tell us what happens”.  If limbo about her results wasn’t difficult enough, how about this: more limbo.  The gene where her variant lies is responsible for moderate to severe mental handicap. Though seizures in people with the full sequence mutation normally diminish by the age of 3, developmental delay is quite significant. We know that Pepper is delayed, and we know that she will require intensive therapy. We have gone over her reports with her therapy team. We all have some work ahead of us. What we don’t know is what her future looks like. We don’t know if she will ever run to us happily from the schoolyard, whether she will win a spelling bee, bead a necklace, be asked to the prom or even if she will ever get to dance with her daddy at her wedding. All we know is that Pepper, genetically speaking, is flawed. But that doesn’t mean she is not perfect. After all, aren’t we all a little flawed?

As of today, Pepper’s rough seizure count is at about 325. She continues to have seizures. Lately, her seizures have been daily. We continue to silently mourn the loss of our dream for our little girl, and try to accept a new reality for her. And when it gets really bad, I remind myself that we all adapt, we all mutate and change to better exist in our world. Perhaps this gene mutation was necessary for her, for us. Maybe, just maybe instead of doing all those normal things we wished for, our little Pepper will do something extraordinary. Where there is hope, there is life.