“Nathan was diagnosed at two weeks old. My husband, who is a physician assistant, knew right away something was wrong. He kept asking me if his cry sounded like a cat and I responded with ‘I don’t know, honey I’ve never owned a cat before!’” Kathy McClelland, mother of two, explains. Kelly’s son, Nathan, has Cri-du-chat syndrome, a rare genetic disorder that occurs when the short P-arm of chromosome 5 is deleted for seemingly no reason. It causes intellectual disability and delayed development, making it almost impossible for patients to live and function on their own.
Infants can be diagnosed with Cri-du-chat almost instantly at birth- they have a distinct cry that is similar to that of a cat. They also are usually born with a low birth weight, small head or jaw, wide-set eyes, and low-set or abnormally-shaped ears. Over time, they will experience cognitive, gross, and fine motor delays, difficulty with speech and language, constipation, and sleeplessness. Since Cri-du-chat …show more content…
One person with the syndrome, Rachel Dempsey, finds her case to be mild. Rachel is a mosaic, which means only some of her cells are affected, so only about thirty percent are affected by the syndrome. She experiences symptoms such as difficulty talking, hip dysplasia (misshapen hip), sensory overdrive, and getting tired easily. However, she lives independently, has a job, and even won Cri-du-chat superhero of the year! Sadly, this is not the case for all people affected by the syndrome. For another person named Scott Snow, Cri-du-chat has not been as easy of a case. As explained by his mother, Scott is in a special day class at school and has a lot of difficulty with social skills. The hardest thing for him is reading because he has a hard time with phonics and reads at a very low level for his age. Nevertheless, his mom explains that he has taught his family a lot despite being a lot of