Name : Patrick (Pasquale) (Mother, Francene S.)
E-mail : email@example.com
Child: 5 years old
Location: Harrison Township, Michigan
Areas affected: Left hip (pelvis) and left lower extremity
Patrick is a triplet, who came into the world prematurely at 29 1/2 weeks.
He has an identical twin and a fraternal twin, neither of whom have the disease. After birth at 2lbs. 12 oz., he remained in the NICU for 6 weeks. He was on a ventilator for 3 weeks, and oxygen until 4 days prior to his discharge at 3 lbs. 15 oz. Patrick was, and still is to this day, the last of "my bunch" to accomplish his developmental milestones. He was the last to roll-over (6mos.), sit up (9 mos.) and walk (15 mos.) At 19 mos. he was assessed by our ISD at being severely mentally retarded (4-6 mos. developmental age). We had him tested for epilepsy and autism, both of which were negative (although we were warned it was probably too early to be testing for autism). His brothers (Tommy and Nickolas) were, respectively, 3 and 6 mos. ahead of him developmentally. All 3 were speech delayed and had gross motor problems from the beginning. After extensive intervention programs, the boys rallied. Patrick outgrew a Stage III retinopathy, all 3 began talking (non-stop!) at 3 1/2 and potty trained at 4 years. They walk, talk, and act, at 5, like their classmates, and will start Kindergarten next week. Patrick now weighs 40 lbs. and is 44 inches tall (50% for his age in weight and height).
Patrick has always moved a bit slower than his brothers, and we attributed it to "the pattern" of development in our group, and waited (of course, while in physical therapy.) Starting at about age 3, Patrick would limp on the left foot every 6 mos. or so for 4-6 weeks. We would have him x-rayed at 2 weeks (per our pediatrician), find nothing, begin worrying at 4 1/2 weeks. We would run back for more x-rays, only to have him stop limping 10 days later. This "cycle" took place three times. At about 4 1/2, he twisted his left ankle and started limping again. After 2 weeks, my pediatrician recommended an x-ray. It returned "normal," and Patrick continued to limp and complain of pain. After 6 weeks, our pediatrician recommended more x-rays, this time extending to the pelvis. The chief radiologist at St. John Hospital (Dr. Fred Cushing) noticed the abnormality and consulted with Dr. Henry Bone, another specialist in the area. They agreed that a diagnosis of mixed sclerosing bone dysplasia was "most" correct. Not 100% happy with the diagnosis, the skeletal survey was forwarded by Dr. Cushing to Dr. William McAlister (Chief Radiologist at Children's Hospital in St. Louis). He was the first to suggest that the disease was "most likely" melorheostosis. At our appointment today with Dr. Mott at Children's Hospital in Detroit, he agreed with the suggestion.
Patrick has had no surgeries or treatment. All of the doctors who have seen his films have told me that there is no cure, and surgery is only used to alleviate pain. Patrick is a happy kid that, right now, can't run anywhere near as fast as his brothers. Is there anything I can do to help him? Any physical therapy, or stretching techniques, that will keep his joints a little more flexible? What will happen when he goes through puberty? Does this disease spread? Is there a specific test available to diagnose this disease? I have so many questions and am so overwhelmed. Any information and suggestions would be such a help.
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