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GIOVANNI - Schwartz Jampel Syndrome (SJS)

There are over 200 forms of dwarfism, and the most common form is Achondroplasia. But there are new disorders still being discovered! When Giovanni's blood work was sent off for testing in Germany, it was found that he is the only person documented with his type of SJS. Many of you may be wondering, what exactly is Schwartz Jampel Syndrome (SJS)? SJS is a rare disorder characterized by abnormalities of the skeletal muscles which can cause muscle weakness or stiffness (myotonia). Abnormal bone development, or bone dysplasia, is also common with this disorder. Dwarfism, small fixed facial features, and abnormalities of the eyes are also characteristics of Giovanni's condition.

There are 3 types to this disorder, SJS type 1A, type 1B, and type 2. When Giovanni had his genetic testing completed, it was found that he has made his own type under this disorder. His characteristics are similar to SJS type 1 than type 2. He has more muscle tightness than weakness, and this tightness was the reason for his eye lid surgery in 2011. His muscles in his eyes were so tight, it was forcing his eyes closed, obstructing his vision. If we had not surgically intervened, he would have eventually gone blind. His small, fixed features were the reason for his tonsil removal in 2012. Giovanni has small airways. His tonsils were obstructing the airway and this surgery was our first step in curing his obstructive sleep apnea. In the summer of 2013, he had his Achilles Tendon lengthening procedure. He is walking better since the surgery and is no longer on his tippy toes.

 Just last Thursday, May 1, 2014, Giovanni has had yet another surgery. Giovanni was suffering from severe obstructive sleep apnea even after his tonsils and adenoids were removed. We were given two options by our surgeons. Tracheostomy or jaw distraction. We opted for the jaw distraction since that is not as life altering as a tracheostomy would be and the jaw distraction procedure will also help improve Giovanni's feedings too. Giovanni is a true blessing. He has made me realize that I am a much stronger person than I ever thought I was. The most important thing I want people to know about Giovanni is how smart he is. Just because he is small in size doesn't mean his intelligence is compromised by any means.

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