[tri-med] Re: Ups and Downs

----- Original Message -----
From: <TRIER9@xxxxxxx>
>>Her
> pediatrician called today and says he does not know what to do next.

Laurie,
I know that this is scary news, and how I so wish that there were not any new 
twists and turns on thise roller coaster ride!!!!
Can I play a little of the devils advocate here?
My guess is that the ped doesn't know what to do next because osteoporosis in 
such a young person, who is very mobile is rare.
But as you know it has been reported on other children with T-9 and I would 
like to tie in a few other "T-9" features and make a
hypothesis.
Children with T-9 tend to be small (short)
they have problems with temp regulation and in particular a lack of sweating.
And now this bone fragility.......
All of these symptoms can relate to the hypothalamus-pituitary-thyroid axis and 
I would certainly be asking to see an
endocrinologist and asking for a FULL work up.
I know your doctor gave you the diagnosis of ectodermal dysplasia for the 
sweating issue but that is linked to a defect on
chromosome X so I am wondering if its not related to the T-9 rather than being 
true ectodermal dysplasia.
I know Brianna had the biopsy done - what was the result? Are there sweat 
glands not working? or an agenesis of the glands??
Also a sensitive question but how is puberty happening??
Problems with estrogen levels can cause leg pain (says she with first hand 
experience after suffering massively for 18 months!!!!!)
can effect bone density (hence the problems with the elderly) and all this is 
or can be related to the hypothalamus/pitiuitary axis.

One of the things discussed at the Chromosome 18 registry conference was the 
research that they are doing into growth hormone
deficiency in children with 18q deletion syndrome. What they have discovered is 
that it is NOT ONLY a growth hormone deficiency but
problems with the hypothalamus/pituitary axis and that standard tests are not 
always picking up problems. For example regular
thyroid tests are not necessarily picking up thyroid problems because the 
problem is not that the body is not creating the hormones,
but that the body can't use what it does create.
The hypothalamus is a very small but complex structure that has a feedback 
system through the pituitary axis and includes the
thyroid. Ultimately this axis controls ALL our hormone production one way or 
the other.
Hypothalamic/pituitary/thyroid problems are not uncommon in a lot of chromosome 
anomolies. eg thyroid problems are common in T-21 as
is GHD, diabetes. GHD is now thought to be fairly common in T-14 and also 18q 
deletion.
So I guess what I am saying in a long round about way I would be asking for a 
referral to a pediatric endocrinologist that likes a
challenge and who is thorough. And I guess I would start reading up on the 
workings of the hypothalamus, pituitary gland and also
the thyrod glands :-))) Its a VERY difficult and complex area to try and get a 
handle on believe me.

BTW - Most of Alex's issues are related to this axis, in fact I would say all 
his medical problems are!!

If you look up, there are no limits.
-- Japanese Proverb

Keep Looking for Rainbows!!!
Karen, Mum to Alex (6, T-18 mosaic)
Sydney, Australia
http://members.optushome.com.au/karens
http://www.trisomyonline.org

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

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