Our second referral was to a pediatric endocrinologist specialist. The testing that was done at this stage was to check his thyroid gland, pituitary gland, and for phosphate wasting. At the conclusion of these tests, the results were in Jake’s favor and were normal. Diagnosis In February 2004, Jake was finally diagnosed with McCune-Albright Syndrome (MAS). The doctor explained that a person with MAS has at least 2 out of 3 of the following symptoms: multiple birthmarks, fibrous dysplasia, and/or precocious puberty (premature puberty, more commonly found in females than males). Females have been known to experience breast development and their first menstruation at the age of 11 months old. Jake has the first two. The doctor explained that this disease isn’t hereditary, that it isn’t caused by anything the mother or father did prior to the child’s birth, nor is it passed on from the person with the disease to their children. We were also told that these children have a high tolerance for pain and that is probably why he complained as little as he did when he initially broke his leg. For the first year we went back for follow up visits every 6 months. This was done so that we would establish a baseline for the future tracking of progress with the disease. At this time we were referred to an ear, nose, and throat specialist. READ MORE

Web Site Donated By: John Noonan