[tri-med] Re: New to the List

----- Original Message ----- 
From: "Evelyn Dichter"
> My name is Evelyn Dichter, I am the mother of a 15 year old boy, Connor,
> with Trisomy 8 Mosaicsim.  He also has agenesis of the corpus callosum.

Hi Evelyn,
I am Karen and my son Alex has T-18 mosaic with ACC. Alex has just turned 
11. Actually and technically its DCC. He has a few posterior fibres but the 
neurologist tells me that there are so few and they dont function so he may 
as well be classified as ACC.

Alex also suffers a rare syndrome associated with the ACC - Shapiro's 
Syndrome. The long name is Spontaneous Episodic Hypothermia with 
Hyperhidrosis.

I have been a member of the ACC group for years - Kathy and Gary were great 
when Alex was first diagnosed with Shapiro's but its so rare a complication 
of ACC that they frequently forget that its an associated syndrome. I think 
there are about 40 folk diagnosed world wide, no children (other than Alex) 
still living unfortunately.

I guess I have been the opposite in that I found much more on Trisomy 18 and 
Alex didnt seem to fit the profile for most of the kids with ACC that I have 
tended to spend more time with the trisomy group. But that said his biggest 
and most life threatening problem is definitely related to the ACC.

I can relate to the great boost they get speaking at conferences - Alex 
still puffs up when we mention his little speech in front of a large group 
of businessmen a few months back.

There has been a lot on the list recently about mosaicism - if you need 
anything else (or if anything needs clarifying) let me know. Alex has about 
80% of his cells with the T-18 by blood, but when we tested the skin on his 
butt he had no trisomic cells - its an unusual situation but such is Alex - 
an enigma (and when I say that Alex thinks I am inguana, given his behaviour 
of late not a bad likeness!!!)

Do you find that Connor has more of the characteristics of other children 
who have ACC? or of the trisomy? Alex just didnt seem to fit the depth of 
developmental, cognitive and behavioural problems of most children with ACC. 
I know that ACC is very variable and people may have no signs and not even 
know that they have ACC - but those on the ACC list seemed to have way more 
problems than Alex.

"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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