FREEDOM

Mowat-Wilson Syndrome, aka "MWS"

After all of our searching and the last 14 months of endless questions with no answers, this is where we arrive and I feel free. 

It's hard to describe how, as a parent, a diagnosis can be freeing even if it is cementing your fear that your child will forever be dependent on you for their most basic needs, but it is. 

On Monday night, after I tucked my two wonderful boys into bed and headed downstairs to go through the mail, I realized the envelop from Children's Hospital Oakland was not the paperwork needed to be filled out for our upcoming appointment with the Developmental Pediatrician, but actually the report from our appointment with the Geneticist that we had had about 2 weeks earlier. I anxiously read the document, shocked at how each physical feature of my child was evaluated, right there, in black and white. There must have been 5 different categories for his nose, ears, facial shape, etc... and each had a check after it, N for normal, AB for abnormal. The abnormal features were followed by short descriptors.

Initially, as I was reading through the comments, it seemed so harsh to evaluate and judge someone in such a raw and unrestrained manner. There were things commented on by the doctor that I had never even considered different about Xander. Features that I find very endearing, here, were described as abnormalities or faults if you will. As a parent, it's hard to look at your child, regardless of the circumstances and acknowledge the faults in them. In a way, the report triggered a desire to stand up and fight for him and argue that he is wonderful and perfect just the way he is and who are these people to place judgement on him and point out all of the things about him that aren't "normal". 

But, that urge quieted as I reminded myself that this was the purpose of the appointment - answers is what we were looking for and in order to get answers, we needed someone who could look at Xander's entire medical history, his physical features, and his developmental challenges in an unbiased way and try to come up with a logical explanation. No matter how harsh and raw the judgement felt.  

So, I continued to read and after all of the "pass/fail" categories were completed, two possible syndromes were mentioned by name that seemed to best fit with his evaluation. One was Kleefstra Syndrome. This is the one I discovered in my many Google searches over the past year. I had researched it and studied it and brought it to the attention of every doctor, so I knew this was a possibility  It was no surprise. So, I focused on the other syndrome. The one I had never read anything about. This new possibility  Mowat-Wilson Syndrome. What, I asked myself is that? So I started to google and facebook and search blogs. 

I've heard from other parents who've had kids with undiagnosed conditions that there can sometimes be an "ah-ha" moment. When everything falls into place and makes sense. Sometimes it comes when you meet another child with similar needs, for one parent it came when they walked into a doctor's office and saw a picture of "their child" on the cover of a magazine that was describing rare disorders. For me, it was the third post down on the Mowat-Wilson Syndrome community Facebook page. 

A parent had posted a video of her 18 month old son. I clicked on the video and started crying. I don't know how to explain it other than it was Xander. The child looked just like him, played by rolling side to side and scooting his knees under him to try to creep like him, sounded like him, and made the same small hand gestures as him. 

For the first time since we started seeing specialists at 3.5 months of age, I feel like he fits in somewhere. There are kids just like him - granted there are only about 200 diagnosed cases in the world, but they are there and we found them, and we aren't alone anymore. And that, for me, is freeing.