Who Is Anya?

  • Strong-willed
  • Loves to read/write
  • Loves playgrounds
  • Intelligent

I'm a 13 year old girl from
British Columbia, Canada

I was born in August 2008. I have two older brothers, Noah and Cullen. My parents realized quickly that I had missed some developmental "milestones", so they researched and asked our doctors to look into my situation. Finally, in June 2020, I was diagnosed with Lamb-Shaffer Syndrome, an extremely rare genetic disorder that is defined as either the mutation, partial-deletion or full-deletion of the 5th gene of the 12th chromosome (the SOX5 gene).

Lamb-Shaffer Syndrome is EXTREMELY rare - only about 12 people have been diagnosed in Canada, with around 300 diagnosed worldwide. I'm unique! Because it's so rare, very little research has been done so far. However, there is a genetic investigative researcher named Dr. Veronique Lefebvre at the Children's Hospital of Philadelphia, who is studying SOX5, so we're hoping to raise funds to continue that research!

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