Valentin

I 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.  

At 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 them..

Etienne Depestel, 4 rue d'Aoste, 1920 Martigny, Switzerland Pestel@Bluewin.ch

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.

HERIDITARY

... 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 disease.

... 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 prevalent.

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.)

2000... American 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.


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