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helen.dennis
Jul 31, 2017
Edited: Jul 31, 2017

6 year old with CTNNB1 born 2011

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.

1 comment0 replies
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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