Angelman Syndrome the facts about my kiddo
Angelman Syndrome is described as a rare nervous system disorder usually misdiagnosed as either Cerebral Palsy or Autism. My son Cedric falls into the category of misdiagnosed Cerebral Palsy, most likely because thankfully he had no seizures. There are several types of Angelman Syndrome all require a degree in genetics to understand! I will do my best to explain my son's type. He is known as Deletion negative, methylation positive.
What is chromosome 15?
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 15, one copy inherited from each parent, form one of the pairs. Chromosome 15 spans about 100 million base pairs (the building blocks of DNA) and represents more than 3 percent of the total DNA in cells.
Can Angelman syndrome be inherited?
Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy(2copies from dad). These genetic changes occur as random events during the formation of reproductive cells or in early fetal development. Affected people typically have no history of the disorder in their family.
Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby DNA region that controls gene activation to be passed from one generation to the next.
Unlike some forms of Angelman Syndrome my son has the parts on chromosome 15 but for some reason the process by which the brain reads this info (methylation) is corrupted. This is also known as ICD or (imprinting center defect) For instance you have a computer you know you uploaded the info to run your printer but you go to print your paper and the computer tells you it isn't there.
What does this mean for my son...
My son will probably never speak verbally, we are working on sign language (but there are problems there with motor control) & PECS (picture exchange program). I hope to have him on some sort of AAC device (dynavox...there are others) by the time he is 7 or 8. His receptive language (what he understands) is great, Cedric does complete 2-step non-routine based commands. His attention span is short but getting better. To assist this we do many sensory based helpers, ie: brushing, deep compressions, massage, swinging will calm him down as well. He wears a compression vest and by the first of the year we will be adding a weighted vest. He wears braces up to his knees for support, he is quite the tippy toe walker. He has sleep disturbances prior to knowing he had Angelman Syndrome, literally he only slept in 2- hour intervals for 4 years. Thankfully that is all worked out!
But most of all:
My son is so lovable and happy, sure he has his quirks but we all do, we never know what the future holds for our kiddos be them "special" or "normal".
Any questions never hesitate to ask me!
What is chromosome 15?
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 15, one copy inherited from each parent, form one of the pairs. Chromosome 15 spans about 100 million base pairs (the building blocks of DNA) and represents more than 3 percent of the total DNA in cells.
Can Angelman syndrome be inherited?
Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy(2copies from dad). These genetic changes occur as random events during the formation of reproductive cells or in early fetal development. Affected people typically have no history of the disorder in their family.
Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby DNA region that controls gene activation to be passed from one generation to the next.
Unlike some forms of Angelman Syndrome my son has the parts on chromosome 15 but for some reason the process by which the brain reads this info (methylation) is corrupted. This is also known as ICD or (imprinting center defect) For instance you have a computer you know you uploaded the info to run your printer but you go to print your paper and the computer tells you it isn't there.
What does this mean for my son...
My son will probably never speak verbally, we are working on sign language (but there are problems there with motor control) & PECS (picture exchange program). I hope to have him on some sort of AAC device (dynavox...there are others) by the time he is 7 or 8. His receptive language (what he understands) is great, Cedric does complete 2-step non-routine based commands. His attention span is short but getting better. To assist this we do many sensory based helpers, ie: brushing, deep compressions, massage, swinging will calm him down as well. He wears a compression vest and by the first of the year we will be adding a weighted vest. He wears braces up to his knees for support, he is quite the tippy toe walker. He has sleep disturbances prior to knowing he had Angelman Syndrome, literally he only slept in 2- hour intervals for 4 years. Thankfully that is all worked out!
But most of all:
My son is so lovable and happy, sure he has his quirks but we all do, we never know what the future holds for our kiddos be them "special" or "normal".
Any questions never hesitate to ask me!
Tags: angelman, autism, cerebral, genetics, needs, palsy, seizures, special, syndrome
Add a Comment
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Comment by Alena Satherley on July 20, 2009 at 5:19am -
Hi Samantha
My new partner's little man who is 10 has Angleman Syndrome and I absolutely adore him, he is always full of smiles and hugs! One of the things I would like to ask you is about how you worked out your son's sleep disturbances? If you are not there next to him, he will be awake all night.... is there anything we can (in your opinion) do? Would a normal sleep clinic be able to help?
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Comment by photomom on May 23, 2009 at 5:38pm -
My daughter is 2 1/2 she is non verbal and was diagnosed with autism. After visiting another neurologist for a second opinion she is testing for Angleman Syndrome. She has almost all of the symptoms. Your post is very informative and thank you for sharing.
Take Care,
Maria
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Comment by Kari Wolfe on December 1, 2008 at 10:46pm -
Hmm... sensory based helpers... Interesting. I've been a bit skeptical about the brushing for Natasha. She doesn't really like it and I've not been too sure of the science behind it which I guess is why I've been so skeptical. She definitely has a sensory integration disorder but hasn't been diagnosed with anything other than a "developmental delay with concerns for autism." But she is definitely a sensory-seeker! Everything goes in the mouth and she bounces off the walls - at least that's what that amount of energy feels like to me.
I love my baby girl and it has been so hard to adjust - she doesn't talk but just started speech therapy so we are crossing out fingers that she will develop some form of communication, be it signs, PECS, words, whatever. I don't care how I have to communicate with her - as long as I can.
If you don't mind me asking, how did you adjust to your son's needs? I'm trying but I can't help but wish she was otherwise or wonder if there was something genetic or if there was something I did during pregnancy that I shouldn't have, etc. I know it doesn't help and I try to push all of that out of my mind, but sometimes I don't do as well as others.
Take care and I would love to see pictures of your son :)
--Kari
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Comment by Kari Wolfe on December 1, 2008 at 10:39pm
- (hugs) He sounds like a very special boy.
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