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Nov 16, 2017

nice to meet you😁😁😁

2 comments

Hello!I'm Luca and I'm the only baby in Italy with the ctnnb1 syndrome.

 

 

Dec 27, 2017

Bonjour. Ton fils est un bel enfant ! Et je vois que, tout comme le mien, il adore la piscine ! C'est étrange car sur la photo du haut, sur le cheval, avec les cheveux très court, je trouve qu'il "ressemble" au mien....finalement peut-être qu'effectivement il y a des traits caractéristiques dans cette maladie. Tu te trouves dans quelle partie de l'Italie ? J'ai longtemps vécu dans le sud de la France tout près de la frontière Italienne. Sur ton message, dans ma discussion, tu dis que ton fils a été le premier diagnostiqué en Italie...le mien a été le premier diagnostiqué en France ! Il y avait alors 4 personnes avant lui diagnostiquées au monde ! Mon fils était donc le 5ème au monde et aujourd'hui je lis qu'il y a une 100ène de personnes diagnostiquées...A l'époque de la "trouvaille", la généticienne m'avait indiqué qu'il y avait probablement beaucoup plus de cas porteurs de cette maladie, mais que les personnes n'étaient pas encore diagnostiquées car la méthode était nouvelle et peu de centre de génétique en disposait. Et maintenant, il commence à y avoir tant de malades ! Quelle est la prise en charge en Italie ?

Mar 19, 2018

Ciao anche mia figlia è affetta dalla stessa patologia . Voi di dove siete?

New Posts
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  • Hello to everyone whom loves someone here. Our son, born April 2015 was diagnosed 2/2018 with missing small portions of 2 genes within Chromo:3. Ctnnb1 being one of the genes and the one to cause the most concern and obvious deficits. He is otherwise very healthy, genuinely pleasant and happy....omg the happiness!! Belly laughs full of it! Only recently has been having some spontanious behavior issues. Hair pulling, gouging and pushing. As if he startled from a shock and reacts this way. With a very different facial expression. Usually at night or morning but we sometimes see it from frustration or other stimulation. The past 4 months he has been waking midnight with uncontrollable laughter, with this behavior issue. Not every night. a week straight then maybe a week with 11 hour straight sleeps. He is not able to speak, tho he tries. He learns sign-language easy and sometimes communicates this way. He can not stand nor walk without help. his legs are strong but he lacks control of his feet from the ankle down and almost always on his toes or tries to stand-up on top of his foot when barefoot. Feet always pointed straight out. MEMO high-top 4 strap sandals for CP work best. Not AFOs. With all this we found he can actually read....already. not just basic words. even the most phonically challenging words he has never seen and we believe he is on average or slightly above in learning abilities that dont include physical envolvement. Likely due to ctnnb1 and that it controls cellular communication. CBD is so beneficial in many ways with him in our experience. Anyone wishing to confirm similar disposition, abilities, deficits, emotions would be welcome and this is why i (his father) and mother are here on this forum. We dont have or use facebook,....ever. Maybe we can make association with other parents and discuss therapy or behavior and learning excersizes. We are talkers, not texters so if we feel comfortable, we could exchange phone numbers. God love you all..........
  • My child was diagnosed with ctnnb1 syndrome at age 4. It seems to be the only child in Korea. I want to exchange lots of information.