[tri-med] Re: [tri-family] trisomy cells and tests.....

MOVED TO MED LIST

----- Original Message ----- 
From: "rachael larson" <rlarson_22@xxxxxxxxxxx>
  So do we put
> Aleah threw another test????? any insight????? is it worth it????? anyone
> done it???????

Is the pain worth another answer? (imagining that a muscle biopsey wouldn't
be a cake walk).
Would knowing change anything?

Why exactly does the dr feel further testing is necessary or suggested (I
didn't totally understand that part).


> Next I need other 14's expeiences.  Growth Hormones????? should we have
her
> tested? also thyroids???

From the very small number of t-14's I've had contact with over the years,
there have been quite a few with GHD (growth hormone deficiency). The
pharmaceutical company had even followed via a study 5 t-14's who received
the GHT . (boy, wish I'd have been able to get their names!!).

One very simple test is a bone age study. It's a 1 view x-ray of both hands
and wrists. If that shows a significant delay then you might have a reason
to see a pediatric endocrinologist. He/she would then do some lab work
(including Thyroid) and a physical exam.

Then, if indicated, Aleah would have further testing done. Alex had a 5 hr
out-patient study done with Clonidine and Argenine. An IV is inserted and
blood is drawn in at timed intervals and the stimulation meds are given that
way as well. It was something like 12 blood draws over the course of 4 hrs.

For insurance to agree to the GHT we needed 2 separate types of testing
showing the GHD.

Some folks on the list may remember 8 yrs ago my coming with the question of
'to growth hormone or not growth hormone'.

It was a VERY difficult decision for us. We did not enter into it lightly.

Basically we decided to go for it because Alex wanted to have a chance to be
more 'normal' in height.
Jim and I looked at safety (there is an increased chance of a particular
type of brain tumor).
The potential positives were increased vertical growth.
Having talked with a few other t-14 parents (whom I no longer have contact
with as they've disappeared and left no forwarding e-mail addys) ALSO saw
increased for their child in speech, one in eating ability (was able to eat
orally after years of tube feeding but it took work), increased abilities in
other developmental areas.

We decided to go for it.

While we didn't get the vertical growth that we'd have liked (possibly
because we started the GHT later than is typical)  we did see an increase in
Alex's reading comprehension JUMP (even the spec ed/gen ed teachers
commented on it). It was amazing!
There was also a noticeable increase in his language skills.

Alex's muscle tone improved dramatically, he went from 3 yrs of trying to do
a full sit up in his martial arts classes to being able to do it within 3-4
months of starting the GHT. Same for full push ups. His strength and stamina
both increased noticeably.

Within a month of starting the GHT Alex actually ASKED me for food one
day!!!!! The first time ever!!!!! He finally had an appetite and was
eating.........at age 10.

Alex received the injections 6 days per week, giving himself the ones in his
legs. This went on for a little more than 2 years.
We had to discontinue them because a bone age study showed that his growth
plates were closing.

That's all I'm remembering at the moment..........time has a way of blurring
the details! lol

Michelle mom to Alex (18, partial trisomy 14 mosaic) and Molly (14)
MichiganUSA

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

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