My Story with Chromosome 18!
By Sydney A (she/her), United States
Hi! My name is Sydney Alper!
I was born with chromosome 18q- proximal deletion. The long arm (q) of my 18th chromosome is missing. Instead of having two copies, I only have one copy of the genes in my 18th chromosome. This means I have Conradi Hunermann Syndrome, which is pretty rare. It occurs when the long arm (q) of chromosome 18 is missing. This means that there is one copy instead of two for each of the genes in the deleted chromosome. 1 in 55,000 babies are diagnosed with Chromosome 18q-.
When I was 9 months old, my mom suspected something was wrong. My face was pale, and I wasn’t reaching milestones as babies do at 9 months old. I had to go to the emergency room. The doctors were dismissive when my blood tests came back normal. They did blood tests and said that everything was fine and to go home. My mom insisted that there was something wrong – and she was right..
The doctors then said I had a chromosome disorder. They said I wouldn't be able to walk or talk. And yet, somehow, I proved them wrong. When I was 2 years old, I got help from my mom's best friend to help me talk.
In 2022, I went to my first Chromosome 18 conference and met so many great people there! I became an advocate because of my experiences. I also gavedid a speech talking about my struggles in high school. I interedused to intern with Chromosome 18 tand createdo do thank you videos for people who donated to Chromosome 18.
I am currently living at home in Long Island, New York working as a cashier at a cafe. I am also a Best Buddies Ambassador for New York State. One big achievement is my Instagram account, @disabilitiesunite, which I founded so people with disabilities can find friends just like them. When I was in fourth grade, I had to write a sentence with the word “unique.” My mom helped me and I wrote, "I am Sydney and I am unique.”
Despite what the doctors believed, I can talk, and I am here to share my story with the world.
My name is Sydney Alper, and I am unique.