I just finished working on a biography of our experiences with Parker and his Mowat Wilson Syndrome. After I finished, I thought I would use this as my next post since it is basically my book in a nutshell. I guess you could say this is a summary of my book.
My name is Lori Linn and my husband is Leo. We have one child, Parker, who is 10 years old. When he was born, because he had some difficulties during birth, he stayed in the special care nursery. A geneticist was called in to examine him because they noticed some abnormalities like hypospadious and his facial features are a bit unique. His eyes are set apart a little wide and his ears are low and small. As new, first time parents we had difficulty imagining that anything could be wrong with our little boy, but this led to years of testing for every genetic condition with no results and no diagnosis. At about 5 months, Parker had an MRI and it was discovered that he has agenesis of the corpus callosum. Also at 5 months, the geneticist told me that Parker was already delayed in his development and I should look into therapy for children birth through 3 years, which the state covers. At the time, we were living inCaliforniawhich is where Leo and I were born and our parents and grandparents lived.
Parker has had several surgeries. His first was for pyloric stenosis, a condition that doesn’t allow the food to go into the stomach. He was 6 weeks old for this surgery. We were told that this 1st surgery would fix the problem and that it would not recur. Despite my repeated attempts to draw to the attention of his doctors the recurrence of symptoms, they continued to insist that the pyloric stenosis could not come back and it must be something else. It wasn’t until they did an upper GI exam using a scope in which it was impossible to get past the pylorus did they admit that they were wrong. By this time, his esophagus was blistered and required medication and time to heal before the next corrective surgery could be scheduled. He had a fundoplication and a second pyloromyotomy at almost 2 years. The fundoplication was for acid reflux which caused him to throw up almost everything everyday all day. The esophagus was wrapped to keep food down and since the surgery he is unable to throw up. The doctor also performed the pyloromyotomy again because the muscle was again not allowing food into the stomach. At 2 years, he had the hypospadious repair which involved changing the location of the opening of the urethra to its correct place.
He has also had numerous hospital stays and emergency room visits. You know you go to the ER too often when the staff knows your name. Parker has had constant issues with constipation and he is always on Miralax to help alleviate that issue. Because of all the stomach troubles, he has always been underweight. I have come to terms with the fact that Parker will never be on the growth chart and that is okay. We have also led a parade through various doctor’s offices and therapy clinics since Parker’s birth. He began occupational therapy and physical therapy at 8 months and has been getting these services ever since. Just recently, he has started walking without assistance at home and at school. He does not have safety awareness, so we have to hold his hand outside or he rides in his wheelchair. He hates doing anything requiring fine motor skills like art, writing, cutting, and gluing. He loves laptop computer toys, and toys with buttons to push. He loves the computer and we just received an IPAD2 for him. At 2 years, he started infant stimulation to ready him for speech services and at 5 years old he began speech and has been in speech ever since. At 6 years, Parker began hippotherapy, which is horseback riding therapy. He has been doing hippotherapy ever since. At 5 years old we also began music therapy and we stopped using the music therapy at 9 years because Parker lost all his words and sounds and he was not able to get much from this therapy anymore.
At 5 or 6 months, Parker began making sounds like other babies and slowly added more. Since we did not have a diagnosis, we assumed he would talk like any other child. When he was about 2 he started losing his sounds and words. Ever since, he has had words come and go. He has had words consistently as long as a year or so. This time in his life is the longest time he has gone without words or sounds. He has been mostly quiet for about 1 ½ years. It is very frustrating. He has never been able to do much signing because of his fine motor weakness and it has left us without much communication from Parker. He has a speech device that we got at 8 years old, but, he has always wanted to play and it is difficult to focus him on using it appropriately. At school, the teachers use various devices to help him communicate, but, again he loves to play. We are hoping at some point he will have a greater desire to communicate then play.
When Parker was about 2 years old, he had his first seizure. We did not know that at the time because it didn’t look like a seizure to me. We had never been warned about the possibility of seizures or told what one might look like. The only thing we had seen was what you see on TV. We now know that there are many types of seizures and that he had probably been having them for some time before we realized what was happening. We had a very difficult time inCaliforniawith getting good doctors and we went through quite a few neurologists until we found one that was fairly good. None of them ever educated us on seizures, which is why we rarely identified them. Parker has all types of seizures and has been on a number of different medications. At present, he is on Lamictal, Depakote, Zonisamide and we give him Clonazepam when he is more likely to have a seizure, like when he is ill. We have a Diastat in case of a seizure not stopping in 5 minutes, and Parker had a VNS implanted just over a year ago. For years Parker had seizures constantly through the night and this caused him to not be able to learn. Last year, the doctor told us that his night seizures were finally under control and he would be able to start learning and retaining.
We had a lot of difficulty inCaliforniawith the school district as well as finding good doctors under my insurance plan. After years of fighting and over a year of needing an attorney to accompany us to IEP’s and help us fight for services and educational placement, we decided to move across country toNorth Carolina. We have had a much easier time here. We have found wonderful doctors and a good school district. We still have to fight for what we want for Parker, but, we can do it without an attorney.
After moving toNorth Carolina, we found a new geneticist and he was finally able to diagnose Parker with MWS. Parker was 8 years old at this point. We were relieved to finally have an answer and I was also a little sad that he would definitely not just start catching up and have no real diagnosis to hold him down. Until this time, I kept wishing that he would suddenly make gains and nobody would be able to explain why he had been delayed. Maybe this was my fantasy because we were not getting any answers. I still hold out hope that he will retrieve the speech he once had and be able to make progress and have some verbal language down the road.
InCalifornia, Parker had some social services, but because I had insurance for him, it covered very little. InNorth Carolina, we had COBRA until it ran out. It was very expensive and very tricky to use across country. Lee and I bought our own policy right away, but, nobody will insure Parker. Now, he has CAP services, which include Medicaid. Mostly we are pretty happy with this and it covers most things including a CNA for respite and home health care.
Generally, Parker is a very happy child. He loves to play and laugh and finds the fun in situations. He has a very high pain threshold which means when he cries, it really hurts. He loves school and being with the other kids, but, to this point he has not learned how to interact much with other children. He does some, but, we would like to see him actually play with the other kids. I don’t know if this is a syndrome trait or a by product of getting his teaching at home through the 1st grade. He never had an opportunity to interact with many kids, other than cousins, until he was in the 2nd grade.
Since getting our CNA, I have started writing about all our experiences in depth. I am still writing and I keep a blog which helps me to keep going on the book. My blog website is: www.lorilinn.wordpress.com