Name :     Bob (Parents:  Julie and Bob)

Child:     16 years old

Location:  Havertown, PA

Area(s) affected:  Left Metatarsal and Tibia

Personal History:

Originally diagnosed with Melorheostosis in 2013 at age 9.  In 2013 we took Bob to a Podiatrist because his left leg looked thicker than his right leg and his left foot was 2 sizes smaller than right foot.  X-rays were taken at that time and the Podiatrist referred us to the Children's Hospital of Philadelphia.   We visited the Children's Hospital of Philadelphia and they diagnosed Bob with Melorheostosis.  They did LEMD3 blood testing and the results were Negative.  We then visited Nemours DuPont Hospital for a second opinion.  We meet with Dr. Michael Bober (Genetics) and Dr. MacKenzie (Ortho).  They confirmed the diagnosis there as well.  Shortly after we first visited DuPont, Dr. Michael P. Whyte, Medical/Scientific Director at the Center for Metabolic Bone Disease and Moleular Research at Shriners Hospitals Hospital for Children in St. Louis, MO, was scheduled to visit DuPont.  During his visit at the hospital he had a chance to review the x-rays and also confirmed the diagnosis.  Bob visited Dr. Whyte at Shriners Hospital in 2015.  Bob is often fatigued.  He rarely complains of foot or leg pain but he often complains of back pain.  Bob has a slight discrepancy in the length of his legs.

Return to Personal Histories