Site © 2017-2019 by CTNNB1 Syndrome Awareness Worldwide (CSAW).  The information contained in this site should not be construed as a substitute for personal medical advice. Please consult with a qualified clinician in all matters relating to genetic diagnosis, management and health. 


Oct 11, 2017

How to help

1 comment

Hello, My nephew has been diagnosed with ctnnb1. How can family be most supportive to the parents? I would love to hear your honest feedback of what to do and what not to do?

Oct 16, 2017

Hey great question! I think the key is compassion NOT sympathy. Our CTNNB1 kids are awesome and do not need to be treated awkwardly or super sensitively, I would get to know your nephews quirks and difficulties, the more you know the less time you will spend focused on what he can't do then what he can. For me certain social situations are very hard, and although I do force myself to attend I will often feel super drained- as much as we do love hearing about other kids achievements and get that ALL parenting is hard please try not to complain (excessively) about things we can only dream of our little ones doing... hmm no doubt if your asking these questions already your one step ahead of most people and will be a fab person in your nephews life! :)

New Posts
  • Hi. I am a mother of a child with ctnnb1 syndrome. I still lack information about this syndrome. Sometimes my child can't control small anger. Is this also characteristic of this syndrome? Do you have any children with similar experiences? Do I need to see a doctor if this happens? Can medicine alleviate symptoms? Please help me.
  • 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.