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..........
Greetings, and welcome to our website. Many of your symptoms will be familiar to other families. I believe we got your email and sent you contact information for one of the CTNNB1 moms who would be pleased to speak to you. I understand you don't use Facebook, but it's actually where many of these longer conversations take place, and is restricted to parents only. I hope we are able to provide some resources to you here. Please stay in touch, and best wishes for your son's progress.
Mariana
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