Rare Disease Day was February 28. I usually make a post to my social media
accounts to spread awareness but this year I missed it. I saw the other posts scrolling by in the
newsfeeds and enjoyed seeing all the beautiful faces of kiddos who are battling
life-threatening, rare diseases.
When you have a child with a rare disease or disorder it’s
such a very different world. You want to
spread awareness but it’s almost impossible to explain what we go through on a
day-to-day basis. The disparity of emotions, trying to keep your child alive,
battling insurance companies, fighting for services, trying to find the
appropriate education plan, and then just trying to be parents to your other
kids and a wife to your husband!
Willy had lissencephaly which is a neuromigrational disorder
– not a disease. But those terms are
used interchangeably in the context of Rare Disease Day. Lissencephaly is a
disorder in which the brain of a fetus does not develop properly at the end of
the first trimester. Whereas a neuro-typical brain develops folds or grooves
which gives you motor skills, a lissencephaly brain lacks grooves. There can be a wide range of groove depth
resulting in different variations of lissencephaly. Willy is even rarer than other lissencephaly
cases because he’s not missing the gene that has been linked.
Willy was on the more serious side because his brain was
super smooth like a bowling ball. He
also had pockets of water in his brain called hydrocephalus. The result was a
Willy with very little (read: almost non-existent) motor skills. In general, he presented with the cognition
and motor skills of a three to four month old. In other words, he was our big
baby.
He didn't walk or talk or grasp things in his hands. He lost the ability to suck and
swallow so he took his nutrition via a stomach tube. He had daily seizures
which caused him to stop breathing. We had a pulmonology routine that took
hours each day and night. Trying to keep him suctioned out and his airway clear
was a full-time job. (Breathing isn’t option, right?)
He was happy though. He loved to snuggle. He cooed. He
watched movies. He listened to music. When my other two kids got “too old” for
mom snuggles, Willy was always willing and able. I enjoyed watching him grow
through the years and do things we thought he wouldn’t do. He had wonderful school teachers and
therapists who worked with him day in and day out to teach him things.
Willy was on home hospice the last two years of his life. He
still went to school and had a good quality of life but we stayed out of the
hospital. We lived a more “natural”
life. We still gave him antibiotics if the need arose and we had all his
prescriptions and oxygen and breathing treatments but we had decided no more
resuscitation or aggressive interventions.
Truth is, the 11 years Willy was here on this planet were
some of the best, if not hardest, of my life. It changed my heart. My entire
being. I look at life so differently now, especially towards those who are
different. I’ve advocated, sat on boards, moderated groups, started a 501c3,
testified in congress both in Michigan and on the national level and more. I’ve
tried to make some positives out of what could be perceived as a huge negative.
(Not Willy, but his disorder.) I have tried to keep up a sunny attitude and am
able to do so for the most part.
But face it. Lissencephaly sucks. Rare diseases suck. Rare
disorders suck. And rare only means it doesn’t get the funding that cancer and
other more prolific disorders and diseases do.
In art, rare is good. In diseases, rare is not. It just means no one
will ever know what you’re talking about.
It means you will have to educate many of the professionals, doctors
included, who will work with your child. (Yes, I’ve had medical doctors not
know anything about lissencephaly.) It means there won’t be much funding or
money available for research or assistance.
So Happy Rare Disease Day – late.
