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Name Gabriele Bottegoni
Born Nov 1998
Gender Male
Diagnosis Trisomy 10q Cariotipo: 46,XY, der ins (10q) (q26.3 q 24.3 q26.1) de novo
Parents Catia and Aldesino Bottegoni
City Ancona, Italy
Email pituccio[at]libero.it
March 2001
Gabriele was born in November of 1998 after a regular pregnancy period without any problems. The birth was expected to be in the end of October, but since Gabriele did not want to be born, in the mid of November my doctor decided to send me to the hospital. Gabriele was delivered by natural birth, he weighed 3 kilos and 210 grames and he was 50 cm tall . From the beginning the doctors realized there was something wrong. He had twisted hands and feet, the stiff neck and he did not have the normal reflexes of a baby, and above all he could not open his eyes. A month later we received the answer to all our questions: trisonomia 10q Cariotipo: 46,XY, dir ins (10q) (q26.3 q 24.3 q26.1) de novo. We started immediately some sessions of phisiokinetherapy and massages. During the first months of the pregnancy a lot of checkups had been done: ultrasounds, radiographies, but all the results were normal and negative. The biggest problems of Gabriele were the ptosi in his eyelids and the blefarofimosi. This last one does not allowed him to have a sufficient field of vision that made his motory retardation worse, more marked. He has already had two operations with the technique of Mr. Holmstrom (Sweden), but the result was an improvement of only few millimetres.

Today Gabriele is two years old. He can be seated in a stable position, and when we put him in a upraised position he can put his feet down for some minutes and then he gives in. He has not said any words yet, but he is noising and he expresses himself in other ways. He likes being taken out for a walk and he loves taking a bath and playing with the water. Every time we sit down at table, this moment is a great joy for him, he eats his food and then he wants to taste everything he sees on our dishes. That is why he weighs more than 15 kilos already . He sleeps regularly about 9/10 hours per night and 2 hours during the afternoon.

It is 3 months since Gabriele has a little brother: Luca. At the beginning Gabriele was very jealous as I could not look after him like before Luca' s birth. For this reason he got angry especially when I fed Luca. Then we did our best to make him understand that we love him as well. He observes his brother with curiosity and he touches and fondles his hands and feet... they are really nice together!!!

Update: January 2004
Gabriele is 5 years old since few days, he became an healthy and well-built child and he weights 20 kilos.

He is calm and he spends his time in a regular way: he sleeps peacefully all the night in his bedroom, he wakes up around 7:00 a.m. then his father dresses him while I prepare his breakfast (mild and biscuits). He doesn't eat akibe, even if his appetite is considerable. At 8:00 a.m. he takes the school bus, ready to go to the nursery school where he meets his support teacher. He stays with his schoolmates that love him very much and at around 9:00 a.m. he starts to make individuals activities whit his teacher: he makes exercises for the development of the 5 senses.

In the classroom Gabriele moves himself seated on a little chair with 3 wheels moving his feet and he stands up leaning with his hands and if he is held under his armpits he walks gladly.

He has at the moment a balance problem and he suffers of muscular hypotonia. As regards the communication, he doesn't have the necessary requirements in order to start a program of (logopedia) exercises (to improve the communication skills), in fact he hasn't produced syllables yet, only ma-ma.

In spite of this fact, Gabriele understands the meaning of everyday words and he communicates his principle needs to us with the body language (for example he shows the glass when he is thirsty, he gets angry when he doesn't want to go to bed, he beats his hands when he is happy and he says goodbye with his hand when he goes out). At school he is very attentive and curious, he takes part of the class activities gladly and his teacher tells us often that he makes considerable and constant progress day by day.

Year by year Gabriele has made big progress that nobody expected. His ptosis restricts him very much. Even though he has undergone two microsurgery operations to lift up his upper eyelid again, his field of vision is of few millimetres. About this problem I would like to know where the other parents have gone, I mean in which hospital and doctor and also the results their children have achieved.

The last thing that worries me is his hips: because of the hypotonia Gabriele started to be standing when he was 3 years old and after making some x-rays we have noticed that his lips didn't build well. As he risks a dislocation every time he is standing, it's important that he keeps his legs opened wide. In the nearfuture we plan to make a surgery operation also to his hips.

I would like to know the experiences of your children, the treatments received and the solutions of the problems that I have listed in this letter. I thank the family for having written me and the association for all the helpful information I will be able to receive.

Catia Donninelli - The mum of Gabriele Bottegoni