Living With a Genetic Disease: A Young Woman’s Story of Living With 22q11.2 Deletion Syndrome

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Nadia

Nadia Zomorodian is one of the approximately 2,000-4,000 children born each year with 22q11.2 deletion syndrome. Although it receives less public awareness, it is believed that 22q11.2 deletion syndrome is as common as Down syndrome.From Day One, Nadia was a fighter. She was born with a congenital heart defect, which required surgery when she was only one week old. Nadia was also born with a cleft palate, which made it difficult for her to breathe and swallow properly, and caused her to develop aspiration pneumonia a total of 12 times before she was even two years old. She was in and out of the hospital throughout her infant and toddler years, and at age three was finally given the diagnosis of Velocardiofacial Syndrome, now commonly known as 22q11.2 Deletion Syndrome.

22q11.2 deletion syndrome is a genetic disorder caused by a deleted or missing section of chromosome 22. The deleted segment is present at the time of conception and in 10% of cases is believed to be inherited from a parent; in the other 90% of cases the deletion occurs by chance. In Nadia’s case, she is the only one in her family with a 22q deletion. This syndrome can affect many different parts of the body; however, it is variable between affected individuals, even within the same family.

As a result of her condition, Nadia had some difficulty in school — particularly with subject areas involving numbers. Her favorite subject in school was English. However, her cleft palate made it difficult to pronounce certain words and caused her to have hyper nasal speech, another key feature of this syndrome. When she was five-years-old, she had surgery to correct her palate (pharyngeal flap) and received speech therapy until her freshman year of high school. She is now much more confident when she speaks and has thrived in her higher education classes.

Though 22q11.2 deletion has been a challenge for her over the years, Nadia has not allowed it to define who she is. Even with mild scoliosis and bone pain, she played sports in school and continues to enjoy being active. She has a great outlook on life, and when she puts her mind to something she gets it done. She recently graduated with an Associate’s degree in photography from Daytona State College in Florida and is currently in the process of applying for a Bachelor’s degree. Her goal is to become a crime scene photographer. When she isn’t working as a sales associate at Body Central or modeling, she is hanging out with her friends taking photos in the studio.

Nadia has a great support system in her family and her friends. What is Nadia’s advice for someone with a new diagnosis of 22q11.2 Deletion Syndrome? “Everything will be fine, [do]not give up and just keep trying.” For her and her family, the 22q11.2 Deletion Syndrome educational conferences have been a helpful tool. They have learned a great deal about the condition and have also established a wider support network. At last year’s conference, Nadia was chosen as the narrator for a film entitled The New Face of Genetics, which aims to educate medical professionals about genetic syndromes while maintaining the humanity of the individuals involved. As evident from the day that she was born, there is no doubt that Nadia will continue to grow and flourish. She is an inspiration to the those living with a genetic syndrome and a symbol that no one is defined by their disease, but rather by all that they are able to accomplish.

To learn more about this syndrome or to connect with others in your area please visit 22q.org.

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About Author

Stephany Foster

Stephany Foster is the Associate Scientific Writer at Recombine, a genetic testing company based in New York City. She writes on topics spanning fertility, reproductive medicine, and recent advances in genomics. Stephany also writes about recently published research that Recombine presents at conferences and meetings around the globe. Before joining Recombine, Stephany interned at the George Church Lab at Harvard Medical School. She graduated from Brown University with an A.B. in Biology in 2014.