Listservs
On the Angelman Syndrome listserv there was a request to post the list on people's blogs, so I decided to write a post about some of the listservs I belong to.
The Angelman Listserv
Angelman Syndrome is a condition caused by having no active copy of the UBE3A gene, usually due to 15q11q13 deletion. It is characterized by severe developmental delay, no speech, ataxia, seizures, hyperactivity, decreased sleep and frequent laughter and smiling. This list mostly consists of parents of Angelman Syndrome children, with a few exceptions (myself included). I stopped being really active in this list quite awhile ago when I was flamed for daring to say that maybe Angelman Syndrome kids wouldn't want a heaven where they're cured. A lot of the people acted like somehow they had personal knowledge of what heaven would be like eg "in heaven, my child will be able to speak." However, before then I also got some nice comments, especially when I answered questions about the genetics of Angelman Syndrome.
The Spina Bifida Listserv
Spina bifida is a condition in which part of the neural tube is underdeveloped so that some of the spine is poking out. I joined this list awhile ago but haven't been very active. In fact, I don't think I've posted yet, and I've only read a couple posts.
9TIPS
Trisomy 9, broadly defined, means there are three copies of part or all of chromosome 9. Most commonly it's either trisomy 9p or mosaic trisomy 9. This listserv is not really big, but it's fairly active. I occasionally post stuff, such as asking if apraxia of speech is common in trisomy 9p (it apparently is).
The Williams Syndrome listserv
Williams Syndrome is a condition caused by a 7q11 deletion in which individuals are mildly-moderately developmentally delayed, hypersocial and music-loving, with 'elfin' facial appearance and poor spatial and math skills. In general this list seems more aware that different isn't always bad than many others, possibly because Williams Syndrome has been recognized as being associated with musical talents such as perfect pitch.
The CDG listserv
CDG stands for 'congenital disorders of glycosylation'. These are a group of related metabolic conditions causing various features such as cerebellar hypoplasia, developmental delay, stroke-like episodes and a variety of health issues including liver problems and poor blood clotting. I don't think I've posted much to this list - mostly I just read other people's posts.
ACC-List
ACC stands for agenesis of the corpus callosum, meaning that the individual doesn't have the brain section that forms the primary connection between the hemispheres. Some people with ACC are severely delayed, others are apparently normal, but many are in between, with learning disabilities involving integrating different skills. I've noticed a lot of commonalities between autism and ACC, and like participating in this list partly because of that and partly because of the quirky sense of humor some of the members have.
Trisomy Listserv
Trisomy refers to having three copies of a chromosome or part of a chromosome. The trisomy listserv includes parents of children with a wide variety of conditions, with trisomy 13 and trisomy 18 the most common. I posted a blog entry awhile ago about one archived post from this list and when I posted the link to that entry on the list, I got some positive responses. A lot of these parents have been told their children have no chance of surviving and seen their children survive, partly because they did not decide that the kids would be better off dead. So in general this list is strongly anti-eugenics.
I will probablky finish this list later.
The Angelman Listserv
Angelman Syndrome is a condition caused by having no active copy of the UBE3A gene, usually due to 15q11q13 deletion. It is characterized by severe developmental delay, no speech, ataxia, seizures, hyperactivity, decreased sleep and frequent laughter and smiling. This list mostly consists of parents of Angelman Syndrome children, with a few exceptions (myself included). I stopped being really active in this list quite awhile ago when I was flamed for daring to say that maybe Angelman Syndrome kids wouldn't want a heaven where they're cured. A lot of the people acted like somehow they had personal knowledge of what heaven would be like eg "in heaven, my child will be able to speak." However, before then I also got some nice comments, especially when I answered questions about the genetics of Angelman Syndrome.
The Spina Bifida Listserv
Spina bifida is a condition in which part of the neural tube is underdeveloped so that some of the spine is poking out. I joined this list awhile ago but haven't been very active. In fact, I don't think I've posted yet, and I've only read a couple posts.
9TIPS
Trisomy 9, broadly defined, means there are three copies of part or all of chromosome 9. Most commonly it's either trisomy 9p or mosaic trisomy 9. This listserv is not really big, but it's fairly active. I occasionally post stuff, such as asking if apraxia of speech is common in trisomy 9p (it apparently is).
The Williams Syndrome listserv
Williams Syndrome is a condition caused by a 7q11 deletion in which individuals are mildly-moderately developmentally delayed, hypersocial and music-loving, with 'elfin' facial appearance and poor spatial and math skills. In general this list seems more aware that different isn't always bad than many others, possibly because Williams Syndrome has been recognized as being associated with musical talents such as perfect pitch.
The CDG listserv
CDG stands for 'congenital disorders of glycosylation'. These are a group of related metabolic conditions causing various features such as cerebellar hypoplasia, developmental delay, stroke-like episodes and a variety of health issues including liver problems and poor blood clotting. I don't think I've posted much to this list - mostly I just read other people's posts.
ACC-List
ACC stands for agenesis of the corpus callosum, meaning that the individual doesn't have the brain section that forms the primary connection between the hemispheres. Some people with ACC are severely delayed, others are apparently normal, but many are in between, with learning disabilities involving integrating different skills. I've noticed a lot of commonalities between autism and ACC, and like participating in this list partly because of that and partly because of the quirky sense of humor some of the members have.
Trisomy Listserv
Trisomy refers to having three copies of a chromosome or part of a chromosome. The trisomy listserv includes parents of children with a wide variety of conditions, with trisomy 13 and trisomy 18 the most common. I posted a blog entry awhile ago about one archived post from this list and when I posted the link to that entry on the list, I got some positive responses. A lot of these parents have been told their children have no chance of surviving and seen their children survive, partly because they did not decide that the kids would be better off dead. So in general this list is strongly anti-eugenics.
I will probablky finish this list later.
Labels: agenesis of corpus callosum, Angelman Syndrome, CDG, listservs, spina bifida, trisomy 13, trisomy 18, trisomy 9, Williams Syndrome
posted by Ettina at 9:24 AM
3 Comments:
Ettina, I love your blog but always forget to look at it. Is there any way I can subscribe so that when you mkae new entries they get sent to my email address? I first met you on the angelman listserv.
Hi Ettina
Somehow I ended up picking up your blog in an ACC search. I had a dreadful time on the ACC-List and left. It was before I was formally diagnosed on the spectrum. The folks on that list discriminate against people without a label and patronize those with, IMO. My son Rafi has partial ACC, and some research at the U of Iowa indicated that a lot of people labeled autistic seem to have cerebellum and CC issues, it was published in 1997, and occurs to me that there may be a reason for similarity between CC stuff and the spectrum. I sure wonder about the similarities.
MnJane (late of Lisa'a parent list and others)
There are several ACC lists. My son does not have a diagnosis on the spectrum. I really enjoy the list for the same reasons as above. The one that I think she was talking about was the one that is link with U of Maine not a yahoo group. The one that is U of Maine is like a big family. If you are offended you can say so and Bill will send you an encouraging note. I also think that the list is the BEST place to find out information about ACC. It is full of those little details that make a world of difference.
A side note.. My dad works at U of Iowa dept of Medicine. I pretty much grew up in the old hospital.
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