[tri-med] Re: Hello

except...when we had come to a dead end, in other words kept hearing things
like "that is part of the syndrome and nothing can be done about that" I
knew that I had to keep trying and so did go back to the geneticist and it
was he who referred me on to someone who was willing to try, thankfully! The
recent visit to the neurologist once again was eye-opening. Now that it has
been confirmed that Bec has been having myoclonic seizures, being treated
effectively I can't help but be bothered by the fact that we could have had
a completely different (better) life had this been discovered and treated
earlier...all a domino effect of that referal from the geneticist. If anyone
is doing any research or even willing to treat our kids it will most likely
be a geneticist who hears of it.

Catherine, mom of Becky (32yrs Trisomy 13Mosaic)



-----Original Message-----
From: tri-med-bounce@xxxxxxxxxxxxx
[mailto:tri-med-bounce@xxxxxxxxxxxxx]On Behalf Of jwaite
Sent: Sunday, September 16, 2007 10:01 PM
To: tri-med@xxxxxxxxxxxxx
Subject: [tri-med] Re: Hello



----- Original Message -----
From: <mcmuni@xxxxxxxxxxxxx>
> This is something you all have probably already gotten used to, but I'm
> astounded by the fact that the local geneticists don't even know much
> about T8M.  I don't think they've ever had a T8M patient before.  Is that
> common in other states / areas too?

Your preaching to the choir on this one! lol

When Alex was diagnosed in 1988 we were told by the geneticist that he was
'the only one alive in the world'.
There was no Internet at the time and medical literature was VERY old.
But even 20 yrs later it sounds as if the stories remain the same for the
rare trisomies.

>  If so, is it worth traveling to see them occasionally?

Our geneticist told us that we never needed to come back as there would
never be anything they could 'do' for Alex, nor would there ever be more
info for us. This was.......1989.

Since it cost us $175 to see the dr each time we opted to take their
suggestion and never go back.  :0) Plus it was nearly an hour each
direction. All factors in our decision making process.

Some folks continue to see their geneticist just to 'prove' to the dr that
kids to survive and thrive and allow the info to be out there.

Others opt to not see the dr because it's one less specialist/appointment
they have to deal with in their very busy schedule.

YOU won't gain any info from your geneticist, at least it's that way 99% of
the time.

Michelle mom to Alex (20, partial trisomy 14 mosaic) and Molly (16)
MichiganUSA


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