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

Karen, you did a MUCH better job of explaining ACC than I ever could!!

I took Connor to the geneticist yesterday for a follow-up exam, we
haven't been there in 8 years!  The doctor said he looked really great
and that we're very lucky.  His only "symptoms" of Trisomy 8 are his ACC
and contractures in his toes.  They want to see him once again in two
years when he is 17.  Before our appt. I spoke to the genetic counselor
about the link between T8 and certain types of Leukemia.  I didn't want
to discuss it in front of Connor because I know it would scare him.  She
is pulling together some info for me and recommended that he have his
white blood cell count tested annually.

He is 5'6", taller than me now!


Evelyn, mom to Connor, 15, T 8 & C-ACC, & Erin, 17 - Medford, NJ=20


-----Original Message-----
From: Karen [mailto:karens@xxxxxxxxxxxxxxxx]
Sent: Thursday, September 29, 2005 7:52 AM
To: Tri-Med
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.=20

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.=20

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).=20

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)=20

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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This message was scanned by ATX
7:51:41 AM ET - 9/29/2005
                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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