- Posted March 20, 2014 by
This iReport is part of an assignment:
Living with a rare disease?
Accepting and Embracing My Differences
Amy Maiorano is a self-advocate who was born with a rare genetic condition known as the DiGeorge Syndrome also known as 22q11.2 deletion syndrome. Amy is 19 years old and recently graduated from high school. She is compassionate about public speaking and raising awareness about DiGeorge Syndrome. She recently participated in a clinical study at Children’s Hospital of Philadelphia in hopes of assisting with research to find out more about her genetic condition. In November of 2013, Amy spoke at a TED conference in Ft. Lauderdale, FL. This March, Amy will speak at the State of the County Address in her hometown. Amy currently works as a teacher’s assistant and has dreams of being an author. Visit Amy’s website at http://www.amysworld.me
YVONNE PIERRE: As a parent of a child with Down syndrome, I’ve spoken with other parents and the question we often ask ourselves is, “What is the best way to tell our children about their disability?” Amy, at what age did you learn about 22q11.2 deletion syndrome and how were you informed?
AMY MAIORANO: I was told about my syndrome when I was about 10 years old. My mom explained to me that it was the reason I went to the doctor so much more than either of my sisters and why I had emotional outbursts. At that time I was having a lot of anxiety and even though I didn’t understand, they felt it was time to start talking to me about my disorder.
YVONNE: What is 22q11.2 deletion syndrome?
AMY: The 22q11.2 deletion syndrome is also known as DiGeorge Syndrome and VCFS. It is a genetic difference in the 22nd chromosome. It affects about 1 out of every 4000 births. The deletion is the main cause of medical and mental challenges for people with this disorder, but everyone has different challenges. There are over 88 different characteristics of this disorder that includes heart disease, cleft pallet, and immune issues. Every individual has different characteristics – no two cases are the same.
YVONNE: What inspired you to be a self-advocate?
AMY: I was inspired to be a self-advocate because I wanted to let people know that there was a reason for my learning challenges and social awkwardness. It is important to me for people to know that nothing caused this disorder – I was born with it. As I raised awareness for myself, I began to help my friends discover their differences and advocate for themselves.
There's more! Read this interview in it's entirety at http://hyhonline.wordpress.com