Hello
My seventeen year old daughter has Angelman syndrome but is deletion negative. AS is not rare in fact is one of the more common genetic disorders out there. Many in fact are misdiagnosed either with autism or cerebral palsy and some a combination of both. There are a few good wesites that can offer you all kinds of information just Google Angelman Syndrome.
Hope that helps some. If you have any specific questions I might be able to answer them.
Tricia ↑ |
| Hi Tricia, I have heard this term deletion used a lot but do not really know what it means. Can you let me know? Natalie ↑ |
What deletion means is that a piece of the fifteenth chromosome is missing. There are three ways to get Angelman Syndrome and three ways to diagnose it. As of yet one of the ways of diagnosing is not readily available unless things have changed in the last three years. When reading about other children with AS you might see a signature of Samantha 17 deletion -. What that means is that when the geneticist looks at the fifteenth chromosome there is no obvious deletion. Others might sign their posts the opposite way ie Samantha 17 (as in years old) deletion pos of course meaning that there is a missing piece of the fifteenth chromosome in the region creating Angelman Syndrome. I hope I have not confused you as I may have just confused myself!
Tricia ↑ |
| Tricia, your information was definately a bit confusing for me but I guess so is Angelmans. I just feel very confident in my opinion that my daughter has Angelmans and I don't know how to find a diangnoses. All the information I have ever read about angelmans has been like a perfect discription of my daughter. I even think she may be having seizures now because her eyes suddenly started to move around in her head and cannot focus. Last month her eyes were fine. ↑ |
| Hi! I have a son with Angelmans. ↑ |
I am doing my A level in health and social care and I am studying angelman syndrome for my coursework independently. There are the 6 steps of diagnosing your child for anglemans syndrome.
Go on google and type in "genetic testing for angelmans syndrome" and the first document will explain the 6 steps, it was very helpful.
In my coursework I need to talk about how much support you get for your child. Would you say you get much support even though the disease is rare and generally unknown in wider society? Support groups, meeting groups of people with the condition, conventions, therapies etc.
How was your child diagnosed with angelmans syndrome in your own experience?
Thanks x ↑ |
| My granddaughter has angelman syndrome. I was just wondering when a person travels how is the sleeping arranngement is for a child with angelman ↑ |
