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

evelyn did e-mail and did explain what it was thank you gina son taylor 
triosmy 8 mosaic
----- Original Message ----- 
From: "Karen" <karens@xxxxxxxxxxxxxxxx>
To: "Tri-Med" <tri-med@xxxxxxxxxxxxx>
Sent: Thursday, September 29, 2005 6:51 AM
Subject: [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



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

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