
Today my son was clinically diagnosed with
Williams Syndrome.
A few weeks ago my brother, a medical student, mentioned that Augie had textbook characteristics. I looked it up and was surprised. Not only by the facial features, but the personality traits. Primarily speech delays and super friendly, even to strangers.
From early on there have been things going on. A mother's instinct, you could say. The first month he was in our care we were at his Pediatrician four separate times. Dx: bronchiolitis and pre-asthmatic. He had these mini, mild (never-quite-diagnosed-as) seizures. Even today, I am not sure they were seizures...possibly temperature sensitivity (he wakes up cold and it takes him longer than usual to warm up, he is usually shivering during this time). His forehead also had an unusual attraction to concrete.

If you look closely at this picture, it has been Photoshopped...along with many others, to attempt to conceal the bruisey head in otherwise cute pictures.
We first met with a pediatric neurologist around his first birthday. One tight heel cord led to two MRIs which led to two diagnoses: 1. Possible
Tethered Cord (this is a mild form of Spina Bifida....I think this was a 'CYA' dx on the part of the radiologist, I don't think he has this, but it will be monitored over time). 2.
Chiari 1 Malformation (an incidental finding that we are blessed to know in the event of future problems).
Oh yeah...and as I mentioned before, speech delays. He was in weekly OT from 6-18 months old at which point he qualified out.
So, in a nutshell, we have been hot on the trail of whatever THIS was for a while now. The conversation with my brother was not a shocker. It will take about two weeks for a confirmation by way of the genetic test. But, as soon as we stepped into the geneticist's office, he was throwing out all these words and quickly confirmed the clinical diagnosis.
So, tonight, I read. I research. And the reality starts to sink in.
In my reading words like "mental retardation" and "adult day homes" stand out. As do "shorter life expectancy" and "lack of social boundaries". I am encouraged that he is highly functioning. As a whole, he is doing so well. He is a beautiful, amazing, sweet little boy. He is my heart. Tonight my heart hurts a little as I attempt to process what this means for his future. He has a 50% chance of passing this on to his children (though many WS adults don't have the ability for lasting relationships). That is one of a long list of what may lay ahead for an adult with WS.
So many random things are running through my head.
- I am grateful for the show Parenthood and processing the idea of life with a a special needs child.
- God intended us to be parents to special needs kids, before we even met Catie.
- I am glad I enrolled Rosie in pre-K to have some time to focus on the needs (and OT appointments) for the babies this upcoming year.
- I am grateful for a Catholic special needs school very near by, and that adoption subsidies would likely cover any cost involved.
I am sad. I want to cry. This will impact our future...and certainly, obviously his. I know there is undiscovered joy and greater meaning that will be revealed over time. For now...we are processing.