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In France - Emma


emma.jpg

 

Emma is three and half years old. She has a 22q13.3 deletion.

His parents had the diagnose after more than one year of exams and researchs.

Emma's early childhood was completly normal but she had however  a light delay for all the ordinary acquisitions. (abled to sit down at ten months, walked at twenty two).

She also had many stranges diseases for what she had complete check-up but everything was ok.

Emma's parents began to have doubts about his state of health in front of his persevering muteness. Then, she had more exams.

Emma don't speak, she has sometimes behaviour troubles and it's difficult for her to understand most of instructions.

 

She has speech therapy and physiotherapy.

 

Emma goes to school since last september (2006). Two mornings per week at the beginning and three now.

 

Emma's parents are lucky to live in a small village in east of France where all the teachers are very understanding. Emma is accepted in spite of her difficulties and the fact she is not toilet-trained.

 

Emma has an older sister, Lea who is nine years old.  They have a large complicity together. Lea is very patient with her younger sister (named "big Mama") even if she gives her a hard time sometimes.

 

Life is not always easy. Emma has manias hard to get round : her passion for water, (even toilet one), her whims and angers when we don't want to do what she wants, and unfortunate mania to bite things and people without distinction.

However, Emma is a little girl enjoying life, joyful, and affectionate.

The road will be long but every progress is a victory we have to appreciate.

 

 

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If you want to get in touch with Emma's mother, please send me a mail and I  will let you be in contact with her.

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Creation date : 26/03/2007 · 14:22
Last update : 15/05/2008 · 15:23
Category : In France
Page read 8823 times


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22q13 deletion - Phelan-McDermid syndrome
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= Elever un enfant porteur de la délétion 22q13 (en anglais)

= Elever un enfant porteur de la délétion 22q13 (traduction française)

= Sites d'apprentissage de la propreté (en anglais)

= Relation entre gêne Prosap 2 et délétion 22q13 (en anglais)

= Relation entre gêne Prosap 2 et délétion 22q13 (en français)

= Relation entre gêne Shank 3 et autisme - Institut Pasteur- (en français)

= Etude sur 33 patients : relation entre la taille de la délétion et le développement/comportement (Me Mattéi) (en français)

= La douleur sur internet (en français)

= Vivre avec une maladie rare en France - Guide Orphanet (en français)

= Guide Unapéi - Vivre avec un enfant différent -

= Plaquette UNIQUE sur la délétion 22q13 (en français)

= Article "genetics in medecine" sur la relation entre autisme et anomalies génétiques (en français)


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