On the worst day of my life – May 20, 2009 -- a sad-eyed pediatrician with a military crew cut told my wife and me that our 8-week-old son had a malformed brain and a terminal diagnosis.
Each of the statements the doctor uttered in those terrible moments further limited our son’s life. Lissencephaly, the doctor said. It’s Greek for smooth brain. No grooves or furrows, severe mental disabilities, physical and developmental delays.
Scotty would be unlikely to crawl, walk, or talk. His life span would be short. No cure and no real treatment, we could just comfort our child and protect his quality of life. Every new piece of information hit me like a concussion, with my son’s life transforming before me into something sadder and more limited.
Lissencephaly is pretty rare, maybe not one-in-a-million rare, but close. A Dutch study said there are only a handful of cases per one-million births. I’ve also seen the figure of one per one hundred thousand.
In Scotty’s case, it was a genetic fluke, just a tragically unfortunate screw-up of chromosomes that ripped apart our lives and likely will shorten his. It’s such an unsatisfying explanation, that he and we were victimized by such randomness.
I wish that, nearly six years later, we could say that Scotty defied the odds or that we beat this thing. But lissencephaly doesn’t work that way, Most of what that doctor told us turned out to be true – and then some. Our son has cortical blindness, uses a feeding tube to eat, and suffers from seizures. He cannot hold up his head, sit, crawl, walk, or talk.
There are lots of bad days: trips to the hospital, painful medical procedures, lack of sleep, constant stress. It’s not easy. Certain things will always hit me the wrong way: watching fathers play catch with their sons, and seeing other kids my son’s age head off to school or achieve milestones that likely will always be out of Scotty’s reach.
And yet, he also is an amazing boy who smiles with his whole face and expresses joy with enormous belly laughs. He is a big brother to two healthy siblings. Loud sounds and fast motion crack him up, and he delights in music and extended sessions of babbling and laughing that we refer to as “happy hours.”
My wife and I, alongside Scotty, are at the center of an amazing team of family, friends, and caregivers. We’re deeply thankful for the skill and care of physicians, nurses, and therapists. We’re touched by the kindness of complete strangers – they scramble to open doors or clear paths through crowds. We’ve tapped into networks of resolute parents fighting the same battles against insurance companies, for government services, for inclusion, and for help providing the best possible lives for our sons and daughters.
My heart always will be broken, and I always will live with a certain amount of dread about the future. But if there’s anything I wish I knew back on that terrible diagnosis day, it would be this: You really don’t beat a disorder like lissencephaly. But you also don’t have to let it beat you. Life goes on – even after the worst day of your life.
Making a decision that goes against your doctor’s advice is tough to do but sometimes we must make those decisions. Learn about one family’s decision-making process when in this position.
Starting home health services is sometimes an emotional process because, as parents, we believe that we can care for our child better than anyone and that we should be the one caring for them. However, some of us need help because of the complexity of our child’s needs.
Having some time to yourself when you have a child who must know where you are, always, can be a bit wearing— but also something to be grateful for.