A dense, heavy word that seemingly hangs in the air with the presence of a battleship on an ocean. A powerful word capable of changing lives. Filled with contradictions, it is both a label and an outcome, a cause and an effect, a reason and an excuse.
Every family that has one or is seeking one will have a different opinion about the word.
It’s both a blessing and a curse.
A phone conversation with an old friend from the past, some close family friends conquering their own child’s latest hospital stay, milestones marked by Liam that didn’t seem possible even weeks ago, I’ve had the word diagnosis bouncing around my head for weeks now. So when my twitter feed this weekend had not one (@tricky_customer) but two(@havley_pelhem16) links to well written blog posts about the word diagnosis I decided I might as well jump in join the fun myself and get at least a little of all that bouncing going on in my head written down.
Liam’s diagnosis saved his life. There’s no doubt in my mind. Not the diagnosis itself but rather the fact that we were able to find it so early on in his life. I’ve been told that in many cases involving any lissencephaly diagnosis (Of which Liam’s diagnosis — Miller Dieker Syndrome is one of many) is found later in a child’s life when developmental milestones are delayed or missed. A family that we know of had no idea that there was anything at all wrong with their child’s brain until the kid was 18 months old. It was only the fact that Liam was born weighing less than a thousand grams that triggered a routine MRI which led us to Liam’s diagnosis at the ripe old age of three weeks old.
From blood gases to vent settings, heart rates to weights neonatology is mostly a numbers game. Armed with Liam’s diagnosis as added information we were able to watch closely for complications that are commonly found with Miller Dieker and more importantly be ready to treat them. Had Liam been born only a few weeks later (which still would have been before Karin’s third trimester) that MRI would not have taken place and many of Liam’s symptoms may have been more puzzling. Puzzling enough that we would not have known what was happening in time to help fix it. We expected the GI issues, we expected the respiratory problems, and as much as we hoped to never see them, we expected the seizures.
We’ve spent every hospital stay since pleading with residents and interns to forget what they read in the books about Miller Dieker Syndrome the rare diagnosis that they are so excited to encounter and treat and take a good hard look at the boy in front of them. Liam. Look at his story. At his details. At what is going on with him right now. Liam is not his Miller Dieker Syndrome. He is not his diagnosis, and his diagnosis is not him. The diagnosis that helped at first has also been a hinderance since like any diagnosis the varying degrees of severity and combination of symptoms make each case unique. Young doctors like to treat the textbook. Liam has spent his whole life proving that textbook wrong. He is NOT his diagnosis.
I can only imagine the stress, heartache and worry that I would have felt had i expected Liam to crawl, to roll over, to talk but it never happened. There’s a comfort in knowing that nothing is guaranteed. Liam has never missed or been late for a developmental milestone. Ever. Because knowing what we knew when he was only three weeks old allowed us to free ourselves from any expectations or schedules for him to meet. Like a suit of armor Liam’s diagnosis shielded us from disappointment. Anything and everything that Liam has done or will ever do is cause for celebration and joy. With no schedule to conform to there’s nothing to be late for, only events to be grateful for. A diagnosis gave us that.
But sometimes I wish it were different. And not that I wish Liam didn’t have a diagnosis, Liam is who Liam is and I love him regardless but I’d be lying if I didn’t say there wasn’t such a thing as diagnosis envy. It doesn’t keep me up nights or anything but I do think about it on days like today — Autism Awareness Day. As many questions, myths, and misconceptions that still may persist when it comes to words like down syndrome, autism, epilepsy, or cerebral palsy they are still fairly recognizable to most. Sometimes I think it would be nice to tell someone that Liam has Miller Deiker Syndrome without having to spend the next ten minutes explaining what that means. Sometimes I wonder what it would be like to have one of those popular diagnosis, but we’ll just have to start our own Miller Deiker Syndrome Day.
More often than not I won’t write a blog post about a topic until I’ve got that topic all figured out in my head. Although I read respect, and admire many blogs written by people who are honest and open enough to put their whole thought process out there and really “work things out” on the page, that’s not my style. Tonight I feel like the more I write the more questions I come up with.
I still don’t have this one all figured out. I’ve got a lot more thinking to do here. Ask me again in a month about this one. The answer then may be completely different.
Even though Liam’s diagnosis won’t ever change, I think my attitude towards it always will.