Angelman syndrome

[caremare]

Any one have a child with Angelman syndrome? It is highly suspected that my child has it. Test results will be in in a few weeks.

Carol

[boop172]

I was told that it could be a possibility with my son.  Depending on what is missing in his chromosome 15.  It's similar to PWS, which is what my son was diagnosed with.

[mamatware]

Angelman's in a way is the opposite of PWS, if the deletion is from mom it's one and from dad it's the other (I always get confused which).  My son was tested for Angleman's and it was negative, however, now they are doing what is called mosaic testing, and one of the things they are looking for this time (in addition to several others) is a mosaic form of Angleman's-where the deletion is in some cells but not all.  I have worked with a couple of people with Angleman's syndrome....so I have first hand experience with it, even though not with my old child-he has his own drummer...only explanation so far.   

[caremare]

Hi this is Carol, what IS PWS?

[caremare]

What are the people like that have Angelmans?

[mamatware]

PWS is Prader-Willie Syndrome.  People with Angleman's typically are severely/profoundly mentally retarded, often seizure disorders, autism or autistic tendencies, unusual/disturbed gait (how they walk)-frequently can not walk without assistance and often use wheelchairs, they frequently have very limited language skills, disturbed sleep patterns (one guy I worked with would only sleep several hours per WEEK), problems sweating (lack of-so they can overheat easily).  Realize please that not everyone with Angelman's has all of these, and they can all happen at varying degrees, and also, the people I worked with were adults, and things have come A VERY LONG way since they were kids-as far as therapy etc are concerned, so the future is much brighter for a child with this than it was say 30-40 years ago. 

[diane08502]

   Have you tried the Angelman Foundation?    www.angelman.org   

      Also, try     www.familyvoices.org   for a list of advocacy resources in your state.   HTH, Diane

[cuddles169]

Hey there. My son actually has Angelman's syndrome. It is a chromosomal defect where chromosome 15 is affected on the mother's side. As other's have said if the chromosome is affected on the father's side the syndrome is called Prader-Willie's (I'm not sure if I spelled that correctly, but whatever). There are different type's of Angelman's but if you'd like to talk about it or ask questions I'd be more than happy to talk. My son is the best baby I've ever (yeah I might be biased, but ya know :o)... ) and the diagnosis doesn't have to rule your life.