Miss Cayli
Deletion 3p26.3


Our Journey Through PDD/NOS
Navigating a path through the world of autism, rare chromosome abnormalities, and genetic disorders.
Why I created this site...

Welcome to Cayli's site, which I created to tell Cayli's unique story. She has faced a seemingly endless list of medical issues, which stem from a chromosomal anomaly, specifically, an interstitial deletion of chromosome 3 at 3p26.3.

When Cayli was first diagnosed with her rare genetic disorder, I was desperate for knowledge, but it was so hard to find.  So, I created this place to share information and encouragement with families of other children with similar special needs.  Additionally, our situation drove me to start my own support group for people affected by chromosome 3 disorders.
Cayli's Story...

Cayli was diagnosed with PDD/NOS, an autism spectrum disorder, at the age of nineteen months.  When her diagnosis was confirmed, she had blood drawn for routine testing done on children with PDD.

At twenty-eight months, she was diagnosed with a rare chromosomal abnormality, a partial deletion of the short arm of chromosome 3, at 3p26.3.  Her geneticist is 99% sure that the 1.2 MB deletion is the underlying cause of her PDD.  It interrupts her contactin 4 (CNTN4) gene, which is responsible for neuro-development.  She is the first documented case of this particular deletion that her geneticist has found. So, we cannot treat Cayli as a "typical" PDD case; instead we have to keep her rare genetic disorder in mind at all times.  Many professionals have noted that she doesn't seem to have "typical" PDD (if such a thing even exists).  
My Contact Information...

please email me with any questions:

sarah@misscayli.com

My Other Page...

please join my support group if someone you love is affected by a chromosome 3 disorder:

http://health.groups.yahoo.com/group/chromosome3/


Click here to join Chromosome3
Click to join Chromosome3


Disclaimer: I am not a medical doctor, and nothing in this site should replace the advice of medical professionals. I am not advocating any specific course of treatment. Rather, I am sharing our personal experiences.

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