Sunday, June 14, 2009

Summertime Fun

This afternoon we had some fun outside with the beach ball water sprinkler. At first Andrew just stood in the water and wasn't sure what to think.

Another picture of the wrinkled nose. I would love to know what he was thinking. Probably wondering why mom is taking so many photos and calling his name.

A picture of how calm he gets when he is outside. If only it wasn't 100 degrees out for the next week.

Another picture of our happy boy!

Progression of Hand Movements

Andrew's hand movements have always changed since he turned two. At first he started putting his hands behind his back and everyone at daycare thought he had such good manners when he walked in the hall. It then moved to the front where he held his left hand in his right. Within months he started to wring his hands scraping fingernails across the inside of his right palm causing blisters. Then it changed to where he would pat everything in his environment one or two times and then wring his hands. We were a worried about this but thought that at least he was exploring toys and other things through patting. He loved to pat our trashcan and hear the sound it made and because he loves music he broke his boom box several times by patting it so hard. At Christmas last year he started to clap his hands. My parents were excited about this and I got worried knowing it wasn't a real clap of happiness for him. He would clap his hands sometimes ten times and then wring them tightly. The past few months the clapping has quieted and he isn't able to make quite the sound with his hands that he first had. He now claps his hands and turns them to a wringing position and then pulls them apart on his face which just gets yucky when he is eating or is snotty from throwing a tantrum. We have also noticed that his fingers are starting to get mis-shapen over the past few weeks. He crosses his index finger under his middle finger on both hands while wringing and clapping. And the wringing is constant-all day sometimes right along with teeth grinding. This is the one that kills us! It really grosses me out and he no longer stops when we tell him to.

This past week we learned of some problems with his MDCP program- this is the one that provides the attendant for him. Apparently he now has to have an adult -myself or spouse or grandparent while a provider is here. Which doesn't help me out at all. Not sure what we will do but essentially I have to quit working or find a babysitter quickly. Here we go again!!

We are one step closer to getting our foster/adoption license. What a process it has been. We learned last week of a two year old boy that is available for adoption that has some special medical needs but overall just a little delayed developmentally. We talked with his caseworker and are hopeful that we can get more information on him. He is adorable and we both think he would be a great addition to the family. We have prayed about it and know it's in God's hands if it's meant to be.

Friday, June 5, 2009

Boys with Rett Syndrome

What a week it has been! Andrew's last day of school was yesterday. He is really ready for a break. Apparently he cried for the 3 hours of school and for the last 2 weeks has refused to walk down the hall to class or from class out to the car. It's very frustrating for his teacher and myself because we know he can walk and we want him to use those legs as much as possible. The more he walks the better off he will be in the long run.

This week I talked with another mom of a boy with Rett Syndrome. Her sons name is Luke and he is 6 years old. They found out a year ago that he had a MECP2 mutation as well and was diagnosed with Rett Syndrome. His mom and I talked on the phone for an hour and half. It was so nice to talk to someone who understood where we were coming from and it was good to feel like we aren't in this alone. Their journey with this syndrome has been a lot more difficult and Luke has encountered feeding tubes, vision difficulties, seizure disorder, and a ventilator to help him breathe. His mom is so good and has a great outlook on things and Luke is adorable. What a neat family and I just wished we lived closer.

Since Andrew's diagnosis in November I have searched for other boys with the diagnosis and been in contact with 5 here in the US. One mom that I have been in contact with the most has a son who is 23, and the others are all younger than 10 years. They are all different in many ways but most of them have tracheostomies, are G-tube dependent and some are on a ventilator. In the beginning every thing I read stated that the boys with Rett Syndrome died in infancy but I am finding that this is not always the case. There are boys with Rett syndrome and although there are few they are still a part of this terrible disease. I know there will be a cure someday and there is research being done to help these boys and girls. Thank you Rett Syndrome Research Trust you have given me a lot of hope!!

In talking with other families Andrew's mutation is different than any of the boys and girls. Initially I thought he had 2 X chromosomes and a Y. Andrew has somatic mosaicisim. Not really sure what it all means, even though it has been explained 10 times to me. I just don't get genetics and probably never will but here is the definition.

Somatic mosaicism -- the presence of genetically distinct populations of somatic cells in a given organism -- is frequently masked, but it can also result in major phenotypic changes and reveal the expression of otherwise lethal genetic mutations.

Andrew is more like the girls with the syndrome than the boys. His progression of hand movements and going through the regression stage as well as most of the other clinical features. We always knew he was a special little boy and are just thankful that he continues to do well overall.

One yea for the week- we have had several contractors come out to look at a remodel for his bathroom. We are thinking long term for him and looking at making the bathroom handicapp accessible and having a roll in shower. He may not ever need a wheelchair but just in case that happens it would be nice to have the bathroom ready for him. I think it would help us out now too in that we are needing a reclined bath chair and need the tub taken out. His bathroom is really small and the more room we have the better so we can continue to work on potty training. When you have 2 adults and Andrew in there it gets kinda tight and we have had several accidents already. We are still thinking about it but it is really wonderful that the Medically Dependent Children's Program in Texas pays for things like this.