Related Intellectual Disability Syndrome

Addie

Addie was diagnosed with Related Intellectual Disability Syndrome, caused by a CTNNB1 genetic mutation that prevents her body from producing a protein essential for neurological development. As a result, doctors predict she will not exceed an IQ of 70. Addie is the 21st recorded case of this rare condition. She is mostly nonverbal, unable to walk independently, and is extremely farsighted.

You can’t help but think, "What if I did something differently? What if I changed my diet? What if I didn’t eat that when I was pregnant?" But it wouldn’t have mattered, because that had no bearing on any of it. It’s just a lot of coping, like maybe I could change things, and just realizing that I can’t change it, there’s nothing I can do, so let’s just do what we can. 

– Jennifer, Addie’s mother 

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Kelly, PACS1 Syndrome

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Clara