Name : Stacey (mother, Terry Cole)
E-mail : : TMHC11@msn.com
Child: 16 1/2 years old
Location: Milltown, NJ
Areas affected: Right leg with severe ankle and foot contractures
Diagnoses: 1) melorheostosis 2) Buschke-Ollendorff syndrome 3)combination of osteopoikilosis and connective tissue nevai
Stacey was born in 1988, and there was nothing unusual apparent at birth.
However, during her growth stage at 18 -24 months, I noticed a small "dimple" centered in the bottom of her right foot. During these 6 months, not only did the dimple deepen, but her shoe size became 1 1/2 sizes different, and from her ankle to mid calf, and again in her knee, she developed severe joint contractures. At the same time, very rapidly, there became apparent clumps of connective tissue fibroblasts that adhered to her foot and knee areas. She also had a very deep sacral dimple at the base of her spine. The doctors thought it was a tethered spinal cord that was drawing up the foot, but it was not - just an odd coincidence. A skin biopsy and x-rays were taken. We were very fortunate to be diagnosed correctly fairly early on (she was 4 years old by then ). This confirmed that she had Buschke-Ollendorff syndrome - a skin biopsy confirmed the connective tissue nevai (very rare) and x-rays confirmed osteopoikilosis.
At the same time my husband, Harry, was diagnosed in the same manner as having BOS. He had large areas of skin abnormalities (opaque, whitish/yellowish oval skin papules that show up if the light hits them a certain way). However, Harry had no pain with his condition and Stacey did. She was referred to Dr. Denis Drummond, Chief of Staff of Ortho at Children's Hospital in Philadelphia. He diagnosed her as additionally having Melorheostosis, and confirmed that by x-ray. He co-authored a paper in the late 1970's on melorheostosis, had a hunch, and he was right. Genetics and Dermatology Depts. at CHOP were also involved - they had never seen anything like it. Stacey had biopsy done, and then went on to have several operations involving soft tissue release stretch. These would ultimately fail. Meanwhile, the contractures were getting worse and worse, and the leg length discrepancy she was developing was projected to be more than 4 1/2 inches when achieving adult height. Also, her foot/ankle continued to get worse, and grew into a straight "drop down" position. The only way she could walk was with a 3 inch exterior lift, and a custom molded interior lift. She could only wear high top boots, because she needed something to accommodate the interior lift. When she was 7, she was placed in an Ilizarov immobile fixator after anothersurgery- but was only in it for 6 weeks. Turns out not nearly long enough. At age 9, a partial amputation was suggested. Could not bear to do it, was always hopeful that medicine was constantly evolving, there had to be a better solution, and if that was ever the answer, it would be her choice when she grew up. Their reasoning would be "no more surgeries and no more pain" - but so final....
At age 10, we were fortunate enough to be referred to Dr. Dror Paley in Baltimore, Md. (Dr. Paley does nothing but ortho related problems, and he heads the International Center for Limb-Lengthening at the Rubin Institute for Orthopedics at Sinai Hospital in Baltimore, MD. He was familiar with melorheostosis, and fortunately for us, we met him at a crucial stage in her growth.
He immediately operated on her left leg (no problems there) and removed the growth plate. This helped also, because then her leg differential became about 3 1/2 inches. She continues to be in his care to this day.
He is the leading surgeon in this country for what they do, and they have done over 5,000 operations now. Her "Major" surgery (she's had 7) was to undergo the Ilizarov Fixator surgery again. It is too long to go into here, but basically the fixator is attached to the bones, and you do 1/4 turn rotations with a screw connected to the pin sites a day, and you gradually get correction. Dr. Paley said when she was in the fixator at CHOP, it wasn't on nearly long enough. This time, she was in the fixator for 10 months and underwent a lot of physical therapy. It helped a lot, and it did change her foot from a "drop down" position to a position where she can insert her foot into a shoe (her right foot is still about 4 sizes shorter than her other foot) and it did eliminate the need for an internal lift. However, it is now frozen in place just like before and right now she walks with a 3" exterior lift only. Unfortunately, the joint contracture is so bad in her ankle area, that she developed a vascular problem. So the foot is frozen in place, and she is still on the medication Neurontin, but she seems to be able to cope with the pain on a daily basis. She was scheduled for more surgery this June, this time to operate on her good leg again and take away 2 inches (the max they can do) and thereby reducing the differential to 1 1/2 inches between the two legs-- but we are delaying it until next summer, after her junior year in high school, because we are flying to St. Louis for the Melorheostosis Conference. We are looking forward to meeting everyone. She decided to have the operation next year because we felt the conference was more important especially in view of the melorheostosis gene being discovered.
The one thing I want to say is, thank you to all who have developed this website. The Single, Biggest, Frustration in traveling this journey was the LACK OF INFORMATION AVAILABLE. When we were going thru this, we were told that there were only 72 medically known cases in the world (this was back in 1992 - before the internet, before websites, and there was little or no info available on melorheostosis or BOS.)
Sorry for taking so long to write this, but wanted to try to summarize so far a very long journey in a young lady's life.
Hope this helps, and looking forward to communicating with others. Thank you!
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