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helen.dennis
Jul 31, 2017

6 year old with CTNNB1 born 2011

1 comment

Edited: Jul 31, 2017

I am stunned to find this website. I have been googling CTNNB1 for 2.5 years and this is the first time I have found any way to connect with others. My daughter Sarah, a fraternal twin born August 2011 has CTNNB1. She is fun, spunky, tenacious, smart, funny and challenging. We are in Delaware, USA. Sarah is legally blind with impaired acuity and cortical visual imiparment. Glasses help a bit. She uses an Ipad with touchchat to speak since last November, and has about 12 words on the ipad, 8 signs and about 5 spoken words/expressions. She seems understand most of what we say but her vision, fine motor and gross moter are such that her intelligence can't be measured by any existing instrument. She has a Rifton walker and plays "top soccer" during the school year. She loves Curious George and Kids Bop! We get her care from a combination of Nemours and CHoP providers. Her therapy is provided by the school district.

Our concerns right now are: why is she waking up each night screaming with gas pain, and what will happen with Healthcare legislation here in the US? We just won a legal tussle with medicaid for more home health aid hours - finally we have enough.

Sarah is lactose intolerant and we have eliminated dairy from her diet. She has tken Zantac (ranitidine) 3 x daily since age of 9 weeks.

Has anyone experienced tumors? we were told to watchout for benign tumors but we dont know where or when they will occur or what the symptoms will be....

I tried to load a picture but it just locked up. Maybe too large a file.

awrosemba
Aug 1, 2017

Hi, Helen! We are glad you found us! If you are having an issue with an upload, just send me an email to anthony.rose@ctnnb1.org. I will be happy to post your daughter's story! Also, the facebook group for parents with ctnnb1 children is at https://www.facebook.com/groups/787268954682708. It is a VERY active group representing almost 100 parents (of 57 children with ctnnb1).

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    Nov 21

    I'm curious about the symptoms of the syndrome.

    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.
  • sy111514
    Nov 19

    New here in NE Pennsylvania

    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..........
  • Bono Kim
    Oct 28

    I live in South Korea

    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.