will try to tell you a little bit about the few things
I know on GT... excuse my bad english... I read your experience
... I also read the experience of a lot of other parents...
and there are more than one hundred sites on Internet
talking about GT ... I contacted different Universities
all over the world... there are no cases identic.
the end, I join two texts which I wrote for our relatives,
summarizing different studies... very simple... to explain
in a few words some important subjects.. about heriditary
and " hope in the future "
Keep care and be
happy with your three children, with no difference between
Etienne Depestel, 4 rue d'Aoste, 1920 Martigny,
Firstly, I am the
grandfather of Valentin... we are belgians living since 35
years in Switzerland... when the boy was born, my daughter
and my wife were panic-stricken.. patechia and bruises...
no physician here in our city knew what it was (I have different
pysicians between my relatives (there are more than 2000 diseases-possibilities
for children) ... in the best children-hospital of Switzerland,
at the University of Bern, a professor knew about it, it was
only his second case...
You have seen what
it means to live with a baby with Glanzmann... during 18 months......
and the whole family worrying and frightened... we all love
Valentin very (too) much... my daughter don't like to talk
about it, only with us and her physician..
Then, a very important
decision... let the boy live like an other child... never
be worry or frightened when he his present, especially when
he is bleeding, act just like if it is normal... in the beginning
it was very very hard, especially for the mother (and for
my wife too)... don't forget that children, just like animals,
feel it under their skin... and not only the little children...
since than it is easier for all of us.
When he was three,
his mother and father explained him... just like if it was
a detail... lucky boy, you don't need to do your service in
the army... bruising, nosebleeding, long-time-bleeding became
almost usual to him... he don't like it but he accept it...
At school, fighting
with other boys, he does all kind of sport... we explain the
responsibles what is really his disease.. he has allways our
phonenumbers and bloodstopping patches in his pocket.....
generally, they explain it to the other children ; those do
not understand what it is, they only say don't box him too
hard, he has platelets ... of course, he needs a lot of attention,
especially when he is going skiing, and the schoolclasses
are often going to the resorts here around.
Last year, he felt
on the ground, from the highest bed (doublebed) on his nose,
he kept a very little cat in his hands... he looked like a
box-champion at the end of a two-hours match... his face and
his nose were swelling and swelling... we were afraid because
all the blood was streaming inside ... he stayed a day and
a night in the hospital... the third day he wanted absolutely
to go back to school, with a blue face... I'm coming from
the planet Mars he told his friends.
When he goes to
the dentist, in the hospital one gives him some blood-platelets,
before and after the visit.
You seems to worry
enormous for later.. maybe you could ask the opinion from
elder girls with GT who were also on the list from Marylin,
I did so with elder boys.
... some cases
may be inherited as an autosomal dominant genetic trait
... human traits,
including the classic genetic diseases, are the product of
the interaction of two genes, one received from the father
and one from the mother
... In recessive
disorders the condition does not appear unless a person inherits
the same defective gene for the same trait from each parent
... If an individual
receives one normal gene and one gene for the disease, the
person will be a carrier for the disease, but usually will
not show symptoms.
... in dominant
disorders, a single copy of the disease gene (received from
either the mother or father) will be expressed "dominating"
the other normal gene and resulting in the appearance of the
... the risk of
transmitting the disease to the children of a couple, both
of whom are carriers for a recessive disorder, is 25 percent...
and fifty percent of their children risk being carriers of
the disease, but generally will not show symptoms of the disorder...
twenty-five percent of their children may receive both normal
genes, one from each parent, and will be genetically normal
(for that particular trait).
... greater frequency
in populations in which intermarriage (consanguinity) ismore
HOPE ... Advances
in treating GT
Last year (2001)
the american Red-Cross received the autorisation from the
FDA to test on human beings a new kind of dressing to stop
heavy bleeding... it was very effective on animals... (dressing,
powder to vaporize, etc.)
searchers in Seattle found that selective ultrasonic waves
point on a bleeding place could accelerate the coagulation.
2000... Dr Gilbert
White of the University of North Carolina and his colleagues
... the research team has been working with Nexell Therapeutic
Inc. of Irvine, California, using technology capable of separating
out what are known as " blood stem cells "... rather
than change the gene for platelets itself, the team changed
a promotor gene that makes the gene work in certain cells
but not others... although the researchers have only worked
in the laboratotry, they believe the technique offers potential
to better use gene therapy to treat of diseases in human beings.