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Like every other 4-year-old, Sydney Iannuzzi is affectionate and has a great sense of humor. Sydney, however, also has Smith-Magenis Syndrome. After learning of Sydney's diagnosis, her mother Jennifer was faced with making a difficult decision.
"You could either say, 'I am going to be angry at the world because it has wronged me' or 'I am going to try to make the best of it,'" Iannuzzi said about the crossroad she faced when learning that Sydney has SMS.
The Iannuzzis decided to take the positive route and teamed with another family with a daughter with SMS to start the SMS Research Foundation. They also started their own website, Strength for Sydney, where Jennifer tells their story and informs people of the disease.
SMS is a rare, nonfamilial chromosomal disorder, caused by genetic material missing in chromosome 17. It is a developmental disorder that affects many parts of the body. Its major features include mild to moderate mental retardation, distinctive facial features, sleep disturbances and behavioral issues.
Occurring in about 1 out of every 25,000 births, the doctor who diagnosed Sydney was not able to offer any advice to the family.
"You are already dealing with the grief and devastation of the diagnosis, and now you're expected to manage it as well," Iannuzzi said of doing her own research on SMS.
Through websites such as PRISMS and the SMS page of Ning, Iannuzzi learned about the disease and read stories on how to cope from other families. Iannuzzi hopes that through her efforts more people will learn about SMS and fewer families will be left to do their own research when facing the diagnosis.
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