Hello, my name is Amber and I’m 46 years old. I have been married for 20 years and we have 3 children. My oldest son Aiden is 16 years old, my middle daughter Adisyn is 14 years old, and my youngest son Ashton is 10 years old. In December 2024, my youngest son and I tested positive for 2p16.3 deletion syndrome after some genetic testing due to Ashton’s diagnosis of autism spectrum disorder, ADHD, and developmental coordination disorder. Our geneticist suggested that I have my other two children tested because it’s a 50/50 chance of passing this onto my children. January 2025 the results showed that my middle daughter Adisyn is also positive for the deletion and my oldest son Aiden tested negative. Due to our family history, my mother and one of my brothers (who also has a diagnosis of autism) decided to get tested and they were both found to be positive for the deletion. We have since sent word out to other extended family members recommending testing; I believe we have others who are positive and have yet to be tested. We have 5 boys in our close extended family with a diagnosis of autism.
         My diagnosis has actually been a healing experience for me, because I had learning differences growing up that could not be explained. I suffered from anxiety/depression as a teenager and young adult. Now as an older adult my main struggle is with anxiety. My 14 year old daughter with the deletion displayed severe anxiety as early as age 2 (we thought she was just shy) and by kindergarten she was diagnosed with selective mutism that she was able to mostly overcome with therapy and age, by age 8. Now as a teenager she has had a diagnosis of generalized anxiety disorder and takes an anxiety pill as needed. No other learning difficulties thus far. My 10 year old with the deletion requires the most support. His area of highest need is behavioral and we are receiving behavioral therapy to help him and our family with these needs. Ashton’s autism diagnosis and ADHD has caused him to be twice exceptional in school, meaning he needs high support for behaviors (self contained classroom) and at the same time has a strong fascination with mathematics and foreign languages. In short, the public school does not know how to teach him with such different needs. We are working on finding him the right school placement which hasn’t been an easy task.