Welcome back!

[lisa6wks]

Hi,
Just wanted to be the first to post here. I know this was not a very busy area before, but it is a subject close to my heart. Again I have two kids with Angelman syndrome in my class and they both have great but totally different personalities. I am hoping to go to a conference in Baltimore in Dec on teaching kids with syndromes. One of the syndromes included will be AS another will be Smith Magenis Syndrome, I have also had a student with that syndrome.

Hope to see others here soon!
Lisa

[Guitarmom]

Sounds like a great conference!

A good website with a little information is

http://www.massgeneral.org/childhoodEpilepsy/families/henry.htm

Dr Thiele is an amazingly committed neuroligist and this website shows her commitment to her patients!

I hope that your commitment to your students also reaps a reward to them. It has blessed me tonight in seeing a teacher who cares so much!

Ginny

[acc_angelsaroundtheworld]

Lisa,

I realize that this was posted by you a few years ago but I wanted to reply because I am just now reading it for the first time.

I am the mom of a child who has agenesis of the corpus callosum. He is missing his corpus callosum. The corpus callosum is the middle section of the brain that connects the two hemispheres of the brain and allows communication between the left and ride sides of the brain.

When my son was younger (and because agenesis of the corpus callosum can sometimes go hand-in-hand with other medical problems such as genetic syndromes) he was
tested by a genetic specialist.

The doctor happened to be the very doctor who is known for discovering Smith-Magenis Syndrome. Her name is Dr. Ellen Magenis. She works at Oregon Health Sciences University (a very well known hospital in Oregon).

Dr. Magenis suspected that my son may have Angelman Syndrome in addition to agenesis of the corpus callosum. To see both of those rare conditions together is VERY RARE. He tested negative for Angelman Syndrome after the extensive chromosome tests were completed which took months for results. Some kids are still diagnosed with Angelman Syndrome even if they don't test positive for the syndrome though.

It is my understanding from seeing Dr. Magenis for my son that Dr. Magenis is also very well trained in Angelman Syndrome.

Since my son saw Dr. Magenis for a genetic evaluation it has been discovered that Angelman Syndrome can also be caused by a mutation in the UBE3A gene in addition to the already known cause of a deletion on the chromosome 15.

I know of four other kids who have been diagnosed with both angelman syndrome and agenesis of the corpus callosum. Three of the kids all tested negative for the deletion on the chromosome 15 but were still diagnosed with angelman syndrome. One of the kids tested postive for angelman syndrome and he also has agenesis of the corpus callosum. He has a website that is listed on the ACC-Angels Around the World website below.

I am so thankful for teachers like you who are there for children in special education classrooms and who reach out on their behalf to learn and help each and every child to the best of their potential and abilities. Thank you. :)

Sandie
Agenesis of the Corpus Callosum:
http://members.tripod.com/~scenicbeauty/AngelsAroundTheWorld.html



Hi,
Just wanted to be the first to post here. I know this was not a very busy area before, but it is a subject close to my heart. Again I have two kids with Angelman syndrome in my class and they both have great but totally different personalities. I am hoping to go to a conference in Baltimore in Dec on teaching kids with syndromes. One of the syndromes included will be AS another will be Smith Magenis Syndrome, I have also had a student with that syndrome.

Hope to see others here soon!
Lisa

[lisa6wks]

Hi Sandie,
Yes, I have met Dr. Magenis and seen her at a few different conferences. I do know personally of a child with ACC and Angelman Syndrome, although I believe he is deletion positive and not UBE3A. I don't know if you are aware that there is a great listserve out there for parents of children with Angelman Syndrome. It is very supportive and knowledgable as well as friendly. There is also the Biennial Angelman Conference at the end of July this year in Orlanda Florida. You can find information on it on the ASF website. www.angelman.org

I will be sure and check out your son's website. Nice to "meet" you.

Lisa

[lisa6wks]

Sandie,
I see that Jake is already on your website! He attends the same Angelman walks that I do.
Lisa

[acc_angelsaroundtheworld]

Hi Lisa,

Thank you for your note. :) It is nice to meet you too.

I was wondering if we were perhaps both talking about the same child who has the rare dual diagnosis of Agenesis of the Corpus Callosum AND Angelman Syndrome and I see that it is true. Yes, it's Jake.

I am aware of the wonderful Angelman Listserv e-mail group and I joined it for awhile when my own child who has ACC was being tested for Angelman Syndrome. It was a very nice group of people.

Thank you again.

Sandie *Mom to 15 year old Matthew with complete ACC*

Hi Sandie,
Yes, I have met Dr. Magenis and seen her at a few different conferences. I do know personally of a child with ACC and Angelman Syndrome, although I believe he is deletion positive and not UBE3A. I don't know if you are aware that there is a great listserve out there for parents of children with Angelman Syndrome. It is very supportive and knowledgable as well as friendly. There is also the Biennial Angelman Conference at the end of July this year in Orlanda Florida. You can find information on it on the ASF website. www.angelman.org

I will be sure and check out your son's website. Nice to "meet" you.

Lisa