[tri-med] Re: New to the List

Thanks for the nice note Karen.  When you ask if I find that Connor has
more of the characteristics of other children who have ACC or of the
trisomy...I don't know many people with T8, and those I do know of are
babies or young children, so it's impossible to say.  He does share
traits with the kids from the ACC group.  I didn't know about the
Trisomy list until recently.  I've been off and on the ACC list for
years.  I loved going to the ACC Conference this past year, especially
meeting Kathy, Gary & Matt.  When I first found out Connor had ACC, I
called them.  Gary spoke to me for a very long time about what Matt was
like and when I hung up the phone I thought to myself "this isn't going
to be that bad", and it really hasn't been.  Connor really bonded with
other kids his age at the Conference and I learned so much about
transitioning into adulthood.

What is Alex like?  Why do you say that his his biggest and most life
threatening problem is related to the ACC?  What is the problem?  Has
Alex been delayed in many things? =20

thanks again for your responses,
evelyn


=20


-----Original Message-----
From: Karen [mailto:karens@xxxxxxxxxxxxxxxx]
Sent: Thursday, September 29, 2005 7:12 AM
To: tri-med@xxxxxxxxxxxxx
Subject: [tri-med] Re: New to the List


----- Original Message -----=20
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=20
11. Actually and technically its DCC. He has a few posterior fibres but
the=20
neurologist tells me that there are so few and they dont function so he
may=20
as well be classified as ACC.

Alex also suffers a rare syndrome associated with the ACC - Shapiro's=20
Syndrome. The long name is Spontaneous Episodic Hypothermia with=20
Hyperhidrosis.

I have been a member of the ACC group for years - Kathy and Gary were
great=20
when Alex was first diagnosed with Shapiro's but its so rare a
complication=20
of ACC that they frequently forget that its an associated syndrome. I
think=20
there are about 40 folk diagnosed world wide, no children (other than
Alex)=20
still living unfortunately.

I guess I have been the opposite in that I found much more on Trisomy 18
and=20
Alex didnt seem to fit the profile for most of the kids with ACC that I
have=20
tended to spend more time with the trisomy group. But that said his
biggest=20
and most life threatening problem is definitely related to the ACC.

I can relate to the great boost they get speaking at conferences - Alex=20
still puffs up when we mention his little speech in front of a large
group=20
of businessmen a few months back.

There has been a lot on the list recently about mosaicism - if you need=20
anything else (or if anything needs clarifying) let me know. Alex has
about=20
80% of his cells with the T-18 by blood, but when we tested the skin on
his=20
butt he had no trisomic cells - its an unusual situation but such is
Alex -=20
an enigma (and when I say that Alex thinks I am inguana, given his
behaviour=20
of late not a bad likeness!!!)

Do you find that Connor has more of the characteristics of other
children=20
who have ACC? or of the trisomy? Alex just didnt seem to fit the depth
of=20
developmental, cognitive and behavioural problems of most children with
ACC.=20
I know that ACC is very variable and people may have no signs and not
even=20
know that they have ACC - but those on the ACC list seemed to have way
more=20
problems than Alex.

"We come to love not by finding a perfect person, but by learning to see
an=20
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
7:12:33 AM ET - 9/29/2005
                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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