Name :     Jennifer B.

Adult:  29 years old   

Location:  Cushing, Minnesota

Area(s) affected:  Right knee, Right hip, Pelvis

Personal History:

I first noticed something different about my right leg in my late teens--it was slightly larger around, and though it did not hurt, my family and friends were constantly asking me if I was limping. During a regular check-up in 2006, I mentioned it and we decided to do an precautionary x-ray of my hip. Which revealed a cloudy area around the joint where the femur joins the pelvis. This x-ray stared a round of MRIs, Bone Scans and visits to a variety of orthopedists, ending with a biopsy at University of Minnesota Fairview for a fairly invasive biopsy which confirmed that the 'growth' was benign, but offered no actual diagnosis.

Two years later, I started having regular pain in my right knee and hip and sought out the same initial doctor and orthopedists. After additional x-rays and MRIs, they were unable to determine if anything had changed beyond that I had undergone a surgery in the area. Their recommendation was physical therapy with the belief that, because of the location of the 2006 incision, scar tissue had developed under the Iliotibial Band (a muscle that runs along the outside of the leg from the top of the hip bone to just below the outside of the knee) and was causing that muscle to tighten and ultimately causing pain in the areas where it joins the bone. The physical therapy did help--for a while.


The pain in my knee had increased significantly, and I set an appointment with a new orthopedist to get another appointment and continue care. However, that appointment was cancelled when I discovered I was pregnant and x-rays, MRIs and other diagnostic tools were no longer an option.


The pain increased significantly (to the point where it wakes me up several times a night), and I've lost some flexibility in my right leg--to the point where it is difficult to put on a sock or touch my toes. Before seeking medical help, I set about my own weight-loss regimen and significantly increased my physical activity level, assuming that the doctors would tell me that would help. Neither seemed to have an impact.

I set an appointment with a new doctor, who took updated x-rays right away, ordered several MRIs for just a few days later, and then talked with a local orthopedist before referring me to the Mayo Clinic in Rochester, MN. (From the time of my initial appointment to my first Mayo appointment was just under a week.)

While at the Mayo, I saw a variety of individuals, including Dr. Franklin Sim in Orthopedics, who is the one that after a dozen additional X-rays and review of all previous x-rays, scans and MRIs gave me the diagnosis of Melorheostosis. His diagnosis was confirmed by multiple others at the Mayo Clinic, including Dr. Caroline Davidge Pitts in Endocrinology, Dr. Salman Kirmani in Medical Genetics, and multiple others. (It is 'around' and 'in' the bone on my hip/pelvis and 'on' the bone just above my knee.)

During these appointments we have confirmed that the lower leg, ankle and foot on the affected portion of my body are unaffected, and that a large, spotty, pale red 'birthmark' that was first noticed when I was approximately 5-years-old is likely related. Additionally, they seem confident that the masses associated with my Melorheostosis will not grow significantly and should not spread to additional areas.

The treatment plan laid out by them is entirely for pain management. I declined a once-a-year shot option (marketed as Reclast) because I would like to have another child, so at this point I'm under-going physical therapy at a local orthopedic clinic (which seems to be making some minor improvements on my flexibility, though no apparent decrease in pain), and will then be meeting with my primary doctor to review the Mayo staff's recommended options for take-as-needed pain medication. A follow-up appointment at the Mayo is not set yet, but Dr. Salman Kirmani recommended aligning with the next Melo Conference.

At some point, I will likely have to have a part of the mass removed as it is placing significant pressure on my sciatic nerve, but, because it is fairly risky and some individuals' histories indicate that operations increase Melo growth, we are going to wait until I can no longer tolerate the pain.


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