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.

12 comments:

Brooklyn and Kelly said...

I am SO thankful that you are finding other moms of Rett boys - it has to be so wonderful to talk to other moms like you! YAY! I am with you, all the genetics are SO confusing that is for sure.
That is awesome that the bathroom remodel is going to be paid for, what a blessing!! I hope you all enjoy the summer break!

Caitlyn said...

I'm so happy that you are finding these connections!!! If you are interested in talking with the mom out by us that has a son, let me know! He has an XXY make up, so also resembles the girls more than the boys. (i think that is what he has) I really hope you guys can come to Colorado next year!

abbysworld said...

I don't know how you do it. Us with girls feel alone with no answers. I can only imagine what you go through. So glad you are finding people

Anonymous said...

Hi I have a little boy with mepc2 duplication Rett syndrome age 4 my brother had Retts syndrome and he passed away age 13 in 2007 I would really like to talk to sum one please get in touch thankyou

Kate g in Boston said...

My seven year old son has been diagnosed with everything from autism/PDD to Atypical RETTs with preserved speech. I am so glad to hear about other boys because it is so hard to be the minority within a minority disorder. How can we get BOYS included in the literature on RETTS? I don't have a working email but I would like to talk to others?
Much love and luck to all the Caregivers
Kate g boston

Anonymous said...

Hi my name is Sue, my son Karl -Edward had rett syndrome. He was diagnosed at 4 years old. The doctors told us that he was lucky to be alive, and he probably wouldn't have much of a life. They wanted us to institutionalize him, we said no way! Karl stayed with us and lived until he was 8 years and 2 months old. I wish that when he was here we knew other families whit boys with rett. We need a cure for this now. My email is. sunikagosselin@yahoo.com and I'm on Facebook as Sue Gosselin-Fauteux

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Anonymous said...

Thank the Lord for heaven's little blessings. My boys have multiple rare conditions and I cannot seem to get an ounce of help from ANY agencies I contact seeking help. I'm just glad that there are families out there that can depend on someone to find relief because I am constantly worrying about the future of my little rettos! They walk and talk some so that is a positive. It is just really hard to explain to their neurotupical sister why her brother's are so underdeveloped. Hopefully with time she will lend a helping hand, we can only pray for better days.