[tri-med] ACC or Agenesis of the Corpus Callosum

Someone asked what ACC was and I didnt see a reply so I will hazard a try at a 
simple explanation, Evelyn could probably do a better job though.
ACC is an acronym for Agenesis of the Corpus Callosum.
Our brain is roughly divided into two hemispheres - the left and the right. 
Across the the middle of these two hemispheres is a bundle of fibres called the 
corpus callosum. These fibres allow the left and the right halves of the brain 
to communicate with each other quickly. (remember this is simplified)

With Agenesis of the Corpus Callosum - the agenesis means that this bundle of 
fibres is missing. You don't have to have a chromosome or any other problem for 
this to happen. Some people have ACC and never even know that they do until 
they have a brain scan for some other problem. Other people with ACC are 
severely effected with problems like developmental delay, epilepsy etc. And of 
course there is every variation in between.

In some people with intractible epilepsy they will cut the corpus callosum in 
an effort to try and stop the seizures from travelling across and effecting 
both sides of the brain (you may know this as a lobotomy - its more accurately 
a corpus callosectomy, thankfully becoming rarer). Symptoms of severeing the 
corpus callosum later in life are very different in the most part to those born 
with ACC. For the Aussies that remember Chelmsford - corpus callosectomies were 
done to just about everyone there to treat depression. 

DCC stands for Dysgenesis of the Corpus Callosum (you can see why we 
abbreviate!!) - and dysgenesis means that the corpus callosum didnt form 
correctly and is at least partially missing. Sometime people say partial ACC - 
its much of a muchness.

What it means for Alex is that we know in utero that his brain didnt develop 
correctly - and that as a result he never developed a corpus callosum. For the 
most part his brain has compensated but in his case the major problem (other 
than the fact that the ACC is missing) is that the structure immediately below 
the corpus callosum, the hypothalamus also didnt form correctly.

The hypothalamus is a small pea sized structure that controls all of the brain 
chemicals we produce and they in turn effect all of our body, especially the 
autonomic functions (those things our body does without us thinking about them) 
like heart rate, temperature, blood pressure, hunger, pain, glucose levels etc 
etc.

On an MRI Alex's hypothalamus looks completely normal but it just doesn't 
function normally - sometimes. Most of the time its fine but every now and then 
for reasons we don't understand it malfunctions and pours out all the wrong 
amounts of catecholamines (brain chemicals) which quite literally causes him to 
die. The really odd thing is that just as quickly as it starts it stops, how 
long it malfunctions is up to the powers that be - it can be 10 or 20 minutes 
or it can be 3 or 4 days. 

When I say in emails that Alex is in crisis - thats usually what I am referring 
to - his brain is pouring out all the wrong chemicals, he has become 
hypothermic (very very cold), his blood pressure, heart rate and breathing are 
very depressed and I am doing all that I can to keep him alive until his 
hypothalamus decides to function normally again.

Many children with T-18 seem to suffer a very mild form of this disorder in as 
much as they have lower than normal body temperatures and even for those 
suffering from Shapiro's Syndrome he is extreme, except of course for the fact 
that all children diagnosed with Shapiro's have died in early childhood. There 
are however many adults who have developed Shapiro's and are coping (some only 
just). 

On the DVD that I am offering to folk is a National Geographic Documentary that 
was done on Alex and Shapiro's Syndrome. Actually you have just reminded me 
that I sent Kathy and Gary a copy that I may be able to borrow back and 
recopy!!!

Kathy and Gary Schilmoeller have a son Matthew with ACC - Matthew must be in 
his 20's now?? They started a group for ACC many many years ago through Maine 
University and they also had a very busy list as well (you think this list gets 
busy - you should see the ACC list!!!!) More recently they combined to form a 
national ACC group which has done some great research and I cant wait for the 
further results of the research on ACC, hearing and CAPD of which Alex was a 
part. (CAPD - Central Auditory Processing Disorder - when the brain hears but 
the message is delayed and often distorted getting to the hearing part of the 
brain - the research was to see if ACC played a part in the disorder) 

Does that explain or confuse??

"We come to love not by finding a perfect person, but by learning to see an 
imperfect person perfectly"
Sam Keen

Keep Looking For Rainbows!!
   _--_|\
 /Karen \
 \ _.--._ /
          v Karen, Mum to Alex (10 years, T-18 Mosaic)
http://members.optushome.com.au/karens


                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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