So, I just recently joined an online support group for parents of children that have Mowat Wilson Syndrome. Fortunately for me, I was invited to join because my blog caught the attention of the group. I knew about the group for a while; but, I didn’t join and I can’t say why I didn’t join. If I were to analyze myself, I would have to say that I was in a state of denial.
Let me start from the beginning. From the day Parker was born, we had doctors telling us that he had some sort of syndrome. In fact, the day he was born we had a geneticist come examine him at the request of hospital staff. The day after his birth, I had a genetic’s counselor visit me in my room to tell me that Parker had been checked by them and she proceeded to give me a laundry list of everything that was wrong with him. Now mind you he was born just the day before and I was thinking that other than a difficult birth, he was somewhat perfect. Well, why in the world would anyone not want to burst that bubble? For crying out loud, let’s just lay it out on the table, after all the baby was born a whole 24 hours ago! Surely the parents must know by now that their kid has faults! Right? I think that people in the medical field forget that people have feelings and it is very hurtful to walk into a room with a new mom and start telling her everything that is wrong with her new baby. That is exactly what they do, unfortunately for me and every other new mom that has a baby with anything abnormal. So, we bucked ourselves up and went to see the geneticist, and the poking and prodding began. They took enough blood to make Dracula satisfied and continued to point out every little thing that wasn’t perfect; but, with all the tests and all the criticism, there was no diagnosis.
We continued to see the geneticist as well as every other doctor under the sun. Yes, Parker had, and still has, lots of problems. Some were fixed surgically, others were helped and continue to be helped to a degree with therapies, and others were left undiagnosed. We continued to let the doctors test him for anything they thought might be the syndrome, but, still no answers. After 7, almost 8 years without a concrete diagnosis, I fell into a lull of no news is good news. In my mind, no diagnosis meant that they could not tell us how Parker will end up and how much better he could get over time. We did know that he had significant delays and epilepsy, that seemed to be getting worse not better.
After we moved across the country, we found some amazing doctors. These doctors understood his epilepsy and came up with a treatment plan which we are still tweaking. But, hey a plan is concrete. We loved the idea of a real honest to goodness plan. We can go with that. We have a hard time with no plan and no real idea of what has happened, is happening, or will possibly happen in the future. We love the idea of a doctor that is willing and able to take the bull by the horns!! And, yes we finally were presented with a diagnosis. At 8 years old, we finally found out what our baby has and what the experts were poking and prodding to find. It is called Mowat Wilson Syndrome and it is very rare. In fact, there are only about 170 diagnosed cases in the world. It was discovered in 1998 by Dr. Mowat and Dr. Wilson in Australia. The syndrome explains everything Parker has wrong with him. The diagnosis was a welcome answer for me; but, it was also very sad. It meant that I couldn’t continue to hope for a sudden cure or for a miraculous improvement to come out of nowhere. I had to accept the diagnosis and what it would mean for the future of my boy. Fortunately, there is not a lot of information about MWS because of how new it is and we don’t know exactly how much improvement he can make over time. That, for me, is a good thing because I prefer to think positively and do all we can to help him and help improve his quality of life.
So, back to my self-analysis. At the time of our diagnosis and presentation of information, We were also given information as to where we could find a support group and meet online with others encountering what we encounter. My first instinct was to say that I would do that later. That was a year and a half ago and I never pulled out the information to pursue. The question to myself is would I ever have pulled it out and sought to communicate with the group. I don’t know and I am really glad I don’t have to seek out the group. They came to me and I am thrilled! It has been really interesting to hear about the other kids and how similar or in some instances different they are from Parker. Mostly, I have found similarities and it is somewhat comforting to know that what we have experienced is typical. Maybe I just didn’t want to accept that Parker had symptoms that are typical of any syndrome. I enjoyed believing that he might not have anything that medicine could explain. It gave me a sense of hope and reason to expect more and more. I don’t know why I shied away so long; but, I am glad to be networking with other families now and I am ready to accept that Parker does indeed have MWS syndrome.