Name : Mishka (son), Lydia (mother)
Child: 9 years old
Areas of involvement of melorheostosis: Left leg (upper and lower)
Personal History :
Avid soccer player. At 8 and half complained of back pain after running. During a routine check-up his pediatrician noticed his spine was curved. The scoliosis appeared to be corrected with blocks under the left foot. He referred Mishka to orthopedics for x-rays to see if there was a leg length discrepancy. A series of x-rays revealed that the left leg was 1 and 1/8 inch shorter than the right. The characteristic streaky bone was recognized and Mishka was diagnosed as having melorheostosis. Apparently the first diagnosis here in Madison. We were told immediately that surgery could correct much of the differential. No mention was made of soft tissue involvement. When questioned about activities we were told no modification would be necessary. A lift in the left shoe was prescribed It took several weeks to obtain a lift, which alleviated the back pain but resulted in much tripping and falling. I requested he be fitted for plastic inserts to correct pronated feet which aggravated tripping. This time we were told Mishka should stop playing soccer altogether. This was a devastating blow. It took another 3 months to get the inserts. Mishka continued in soccer as goalie. I requested a referral from Mishka's pediatrician to see a bone endocrinologist Dr. Marc Drezner at the University of Wisconsin. He did a series of blood and urine tests that may in future shed some light on the disease. Apparently there is insufficient data on normal children to know whether the results from Mishka lie outside of normal data for children. Dr. Drezner managed to obtain an out of state referral to see Dr. Fred Kaplan a pediatric bone specialist at the University of Pennsylvania. He has seen melorheostosis patients but specializes in F.O.P. (the disease in which normal tissue turns to bone). He was very helpful in answering questions, validating that surgery in my son's case was not advisable at least not on his affected leg, that monitoring was needed, and suggestions about activity and lifts. His main advice was to set up a patient organized foundation to encourage research. He also indicated that melorheostosis is not a bone disease per se, but a soft tissue disease that also affects bone. He is an incredible human being and quite out of the ordinary among physicians. He followed up with a complete Medline search, a video about the F.O.P. foundation, contacts there about setting up a patient organized foundation and willingness to act as a medical consultant. The other person who has had the biggest impact on the comfort and health of my son is Ron at Cecil's shoe repair. He has been absolutely extraordinary about modifying my son's shoes to facilitate his comfort. It turned out that the HMO was sending his shoes to him anyway, but it would take 6 weeks through them, while directly it took 24 hours and he could do a fitting directly rather than by prescription! I cut out the middlemen.
Questions:
1) I really want to know about living with melorheostosis and coping with the local doctors who have no experience with the disease, but I have to go through to get to someone who does. The research papers are conspicuously absent in patient follow-up.
2) I want to know what contractures are, when they start and how often people get them. Is there any pain medication that works on them?
3) My son is a very avid, skilled soccer player. I have gotten conflicting recommendations about his participation in sports. Last Fall he played goalie, but he wants to play offense or defense too (he is good at both). The only problem is that without the lift, he gets back aches from running because the leg length differential causes his spine to be out of alignment. The last orthopedic surgeon said he should not play at all, but before that he said there was no problem. I'd love to hear from someone about sports and melorheostosis.