[tri-med] Re: GHT

----- Original Message ----- 
From: "Nicole Jones"
> How does this come about?

Ahhhhh many very good questions with no clear answers - sorry.

What causes GHD (Growth Hormone Deficiency)? It can be a variety of things.
The usual cause is genetic, and there is a gene on the 18th chromosome
(among others), specifically the lower end of the q arm, that is related to
growth hormone. How does having three copies of that gene effect our kids -
we aren't sure. They do know that missing a copy means short stature.

Another cause though can be poor sleep patterns. GH is cyclic, meaning that
you produce different amounts at different times of the day, but mainly at
night during REM sleep. If you don't get enough REM sleep, eg if you suffer
from obstructive apneas etc, it can effect the production of GH. (which is
one reason why children start growing after sleep apnea is treated)

Or it can be related to sunlight, nutrition, stress, a lack of response to
GH and a zillion other things. GH responds to a negative feedback cycle -
incredibly hard to specify an exact cause.

>>What kind of testing do they do to check if your body is producing enough?

There is a short test to check for GH - its a one off blood test after
giving an injection of a drug that stimulates GH production. It can give
false positives because it only says that the body CAN produce GH, not
whether it is, in what amounts etc.

The long test, is a stress test. They give a similar injection of a drug
(which usually sends the child to sleep) and then they take repeated blood
samples over a number hours - I think its about 8 hours. The drug that they
used to use was insulin, but they use a safer drug now, its called Arginine
(sp?) This test allows them to measure the fact that the GH peaks and ebs
during the 8 hours.

>>What prompts the investigation: slow growth, not maintaining their curve?

Usually its short stature. In Alex's case it was short stature, poor weight
gain, and a mother who wouldn't shut up about how better behaved her child
was when fed sugar. (One of the symptoms of GHD can be hypoglycemia - hence
the positive response to sugar). Alex was tested because his mother was
being a nag about why he was so short and why he seemed to need inordinate
amounts of calories. The endocrinologist (hormone specialist) only tested
him to shut me up - he wrote before the test to the ped that I was neurotic
but he would test to shut me up :-)) (and yes he used those words)

The endo ended up having to eat his words (Karen liked that bit) - Alex
wasn't GHD but he WAS severely, and I mean severely hypoglycemic (idiot
doctors and nurses didn't believe me that I was still feeding him every 3
hours even during the night which is why he hadn't ended up in a
hypoglycemic coma)

The next question is whether to treat any diagnosed GHD - and thats an open
question and one that only you can decide. It does involve daily injections,
and GH is VERY expensive. If your child is diagnosed as GHD insurance will
usually cover it (but not always). Here in Aus its covered by medicare BUT
it has to be approved by the government and they usually balk at giving it
to "our" kids.

GH doesn't just help linear growth, and this is the controversial part.
Parents say and believe that it also increases muscle mass, improves tone,
improves cognition and so on. The manufacturers agree, BUT the medical
profession is divided. While there are many studies that validate the gains
in linear growth, there are no published studies that support the gains of
the "side effects". The Chromosome 18 Registry has one such unpublished
study............ theres specifically relates to children with an 18q
deletion on the 22nd band from memory.

What do I think? I think it probably does improve cognition by a point or
three, but its not going to create a genius out of one of our triers......

On the other side of the coin there are a few negative effects, or the
possibility of there being negative effects. These include early puberty,
the early closure of the growth plates of the bones, a possible tumour risk
and so on.

Do children with T-18 (full not partial) benefit from GH? Good question but
I don't think anyone has been game enough to try - the two big factors
weighing against its use is the risk of blastoma in T-18 Children with T-18,
(full, partial and mosaic) are at an increased of developing cancer and
there is a risk that GH would accelerate that risk and perhaps even cause
tumours to grow that would not have otherwise.

The other big factor is the wonder that if our children were to grow they
may actually outgrow the ability of their organs. Thats hard to put into
words but an example might be that if our children grow their heart (or
kidneys, or liver etc) may not be able to cope with that increased growth
and so shorten their life.

All that said I know a couple of families here in Aus with children who have
partial T-18 who have gone with GHT - and rave about the results, both in
growth and in cognitive function, strength, stamina etc etc. These children
however were NOT formally GHD, however the endo (wich is also Alex's endo)
argued their case to the government based on short stature rather than GHD
and won. However given the now identified risk of blastoma I think they
would have a hard time getting it through any approval process these days.

What would I do? Heck if I know - Alex is so tall now (he is 9 and the size
of a 12 year old, and currently doing a major growth spurt again) though
that its not a decison I have to make. I am grateful for small mercies :-))

"I wanted a perfect ending. Now I've learned, the hard way, that some poems
don't rhyme, and some stories don't have a clear beginning, middle, and end.
Life is about not knowing, having to change, taking the moment and making
the best of it, without knowing what's going to happen next. Delicious
ambiguity."
- Gilda Radner -

Keep Looking For Rainbows!!
   _--_|\
 /Karen \
 \ _.--._ /
          v Karen, Mum to Alex (8 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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