At birth, there are no signs or symptoms of MPS II. As the build up of enzymes occurs in the body (usually after the first year of life), the following Symptoms become evident:
The early symptoms are all common in “healthy” children, and to many physicians who are not familiar with the MPS II, seem unrelated. However, as the child ages and the severity of the symptoms increases, a specialist (in our case Dr. Sylvia Stockler) orders testing which allows the diagnosis to be made.
There is no “date” for the onset of signs and symptoms. As the GAGs build up in the body, the symptoms gain in fortitude and become more serious. In Trey’s case, he has all of the typical features of MPS II, and because of his speech delay, one doctor gave him an initial diagnose of severe MPS II. However, since that time it has been determined that Trey is too young to determine conclusively the severity of his case.
Without treatment, MPS II is a terminal illness that shortens the child’s life span considerably. Without treatment, we would all be fortunate to see Trey’s 20th birthday. However, now that Trey has been granted Elaprase, we have been given new hope.
Early Signs & Symptoms:
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• Frequent Colds
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• Umbilical or inguinal Hernias (Herniated Belly Button)
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• Chronic Ear Infections
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• Large Head
The Progression of Signs & Symptoms:
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• Coarse Facial Features
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• Enlarged Abdomen (due to enlarged organs)
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• Abnormal Skeleton and stunted growth
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• Progressive stiffness of joints
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• Developmental delays, varying in severity
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• Loss of hearing
Chronic Signs & Symptoms:
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• Obstructive Airway Disease
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• Frequent Pneumonia
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• Progressive Skeletal Dysplasia (limited movement)
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• Cardiac and Valvular Heart Disease
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• Progressive Hearing Loss
