20p12.1 Micro-deletion

What is 20p12.1? Good question as we don't know either. The geneticist believe this is the reason for her physical challenges and her characteristics. My daughter is one of the many children who are pretty much un-diagnosed. I'm not alone as there are many other families in the same boat, all searching for information that will help them understand their child's symptoms and special needs.What is my hope of this small page? Maybe, someone out there has the same genetic deletion as my daughter and will find my blog. Maybe we can help each other in our search.

What symptoms do we have?

Stroke at 10 1/2 weeks old 
Seizures at 10 1/2 weeks old,Global Developmental Disorder
Lots of eye issues that I still can't pronounce
Intellectually Challenged 
Juvenile Arthritis 
Sensory Processing Disorder 
Hypotonia (Low Muscle Tone)- significant 
Autism
Blood clotting disorder G20210A Prothrombin Gene Mutated Factor II 
Raynaud's Syndrome
Doctor's wonder if she could be a precursor to Lupus

Failure to thrive with weight
GI issues 
Scoliosis 
Ocular migraines 

This is just the short list as that is all I can think of at the moment. :-)

My child looks just like your child except that she is unique is so many ways. On first glance if you don't have a trained eye like the geneticist do you would probably not even notice her dysmorphic features. 

They are there so don't assume that the looks are the imagination of the parents. We are the ones who help her through the pain and the day to day journey that she is on.

This is my daughter's life in a nut shell. Blessings and thanks for stopping by my little page. I will update when I can.