• Annie Wood

Meet the Murphy Family






Addison is an energetic, fun loving 5 year old. She loves to play doctor with all her baby dolls.

At about 6-12 months old, my aunt Kay Murphy and I had a feeling that something was not right. Addy was not hitting milestones like the other kiddos her age. Immediately we started to ask around and make multiple doctor appointments with different specialists to see what was going on. Finally when we got to the point we needed to the WES (Whole Exome Sequencing) test, we had no other diagnosis other than Global Developmental Delay. It took a while for us to get the test due to insurance issues. But once we finally were able to do the test, we received the diagnosis of CTNNB1 Syndrome. A lot of mixed emotions were felt but overall a sense of relief because we had been searching for what we already had a feeling about.

Addy does PT, OT, and speech therapy. She has come a long way in her short little life. She is the hardest working kid I know. She has a determination to do most things independently. I have faith that she will get to the point where she will want to do everything independently. She has so much confidence in herself.

She is very active in No Limitations. No Limitations is a non-profit that provides kids with special needs in Central Texas a chance to play adaptive Soccer, Basketball, Football, and Cheerleading. As a mother the joy I see on her face when she is out there on the field is priceless. I loved it so much that I became a coach. Last year was her first year to be a part of the Challenger League for baseball. Due to COVID it put a damper on our season but we made the best of it. We are hoping to get back out on the field soon though.

We are so incredibly blessed to have a strong, determined, willing tribe behind us. With it just being me and her, it can get a little much, but our tribe is what keeps us going. I am so excited to see what the future holds for us and the CTNNB1 family.

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The first two facebook link requires acceptance to closed facebook groups. The first is for parents only and the second is for extended family members.  

Site © 2017 par Anthony W. Rose (anthony.rose@ctnnb1.org) pour la sensibilisation mondiale au syndrome du CTNNB1. L’information présente sur ce site ne se substitue pas à un conseil médical personnalisé. Veuillez consulter un clinicien qualifié pour toutes questions concernant le diagnostic génétique, la gestion de la maladie et
la santé.