[tri-med] Re: Long QT - Karen

----- Original Message -----
From: "Mark and Jayne Wright"
>> They diagnosed prolong QT.  I've heard of this and have read some on the
internet.  Karen....did you have first hand knowledge of this?

The syndrome name for long QT is actually Sudden Arrhythmic Death Syndrome
and there is a largish support group out of Salt Lake City. There web site
is www.sads.org

Alex has a borderline long QT and I always wonder if that is the reason that
he has some of his episodes. Certainly since he has had his pacemaker they
have picked up lots and lots of tachycardic events. Only a week or so ago he
tripped, fainted and then started screaming. The exact order I can't be sure
of. He definitely had massive tachycardia and REALLY high blood pressure
afterwards.

Day to day life for folk with long QT is pretty much normal, what they need
to watch for is sudden shocks.  And that doesn't have to be extreme shocks -
it can be as simple as a door bell ringing unexpectedly. This shock causes
them to faint. In severe and extreme cases it can lead to arrhythmias and
death.

What is great for your sisters child is that they have diagnosed it NOW. It
means that they can do something if it is severe. The most common treatment
is to implant a pacemaker. The pacemaker ensures that the heart goes back to
beating normally after a shock. SADS here in Australia know of at least a
dozen children with pacemakers for Long QT.

Perhaps the most important thing is that they must avoid certain
medications, Cisipride is only one. You will find a full list on the SADS
website, but includes certain antibiotics, cough medicines and such. Its one
of the reasons that I am really wary of trying Alex on Ritalin or any other
stimulant. I am thinking that I don't want to try until they adjust his
pacemaker a little for me (at the moment only the lower limit is set, I want
the high limit set as well)

Long QT is often genetic and so your sister and all extended family should
be tested for long QT. (do you have any cases of otherwise healthy folk
dying suddenly?)  Its caused by a gene mutation on a number of chromosomes,
including, 3, 4, 7, 11 and 21. There are probably more and I suspect (this
is my personal thought) that there is one on 18 as well because a few of the
mosaicers with T-18 have "borderline Long QT" . Alex, Savannah and Rebecca
are three and given that the estimated incidence of Long QT is 1 in 5,000 it
seems like the odds of three mosaicers having long QT are pretty high.

Long QT is still undiagnosed a lot. The significance of a long QT was only
realised a few years ago and so a lot of folk still don't measure or report
the QT interval when doing an EEG.

Do I have personal experience? Yes and no. Do I have an interest in Long
QT - you bet. I belong to SADS Australia and I take all the long QT
precautions with Alex.

"It is from numberless diverse acts of courage and belief that human history
is shaped. Each time a man stands up for an ideal, or acts to improve the
lot of others, or strikes out against injustice, he sends forth a tiny
ripple of hope, and crossing each other from a million different centers of
energy and daring those ripples build a current which can weep down the
mightiest walls of oppression and injustice."
- Robert F. Kennedy -

Keep Looking for Rainbows!!!
Karen, Mum to Alex (8, 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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