6/19/13 - Visit with Dr. Halanski

Many of you know that we took Elliot to a new Orthopedist (Dr. Matthew Halanski) in Madison last Wednesday. Elliot has been struggling over the past 8 months or so with mobility, pain and the inability to straighten his legs. We tried physical therapy for several weeks in Dec-Jan with no changes. After much research, I was able to get recommendations for the Orthopedic Facility at the UW Madison Regional facility that is tied to the Geneticist who helped diagnose Elliot a few years ago (Dr. Richard Pauli) and who now sees Elliot Annually.

Elliot's disorder is multiple epiphyseal dysplasia recessive (rMED). Normally MED patients have significant issues with hips, which has been the concern for Elliot over these past few years and why we see an Orthopedist annually. The good news is that Elliot's hips actually look pretty good. They are slightly off in that they don't have the same angle as most of us, but other than a "waddling" gait, no real concerns at this time.

Elliot's Knees

What we weren't expecting was a very significant problem with his knees. Thankfully, Dr. Halanski listened, examined and ordered the "right" x-rays. Basically, Elliot's kneecaps are in the wrong place. Somehow they have slipped to the sides on both knees (one slightly worse than the other). The doctor explained that this is what is preventing Elliot from straightening his knees and is the cause of all of the pain he has been experiencing. As I understand it, there is a tendon that runs down the back of the leg that enables you to bend you knee/leg. The tendon that is attached to the Patella (knee cap) runs down the front of the leg and provides the off-setting ability to straighten the leg. Because Elliot's patellas are sitting at the sides of his knee, he doesn't have the equal-offsetting pull to the tendon on the back of the leg and can't straighten his legs.

No specifics yet on exactly what's next but surgery is definitely a consideration. Elliot is aware and ready if need be – as he says, surgery sounds good if it means he can run again. I did a bit of my own research online but most similar info is related to sports injuries (ie Dislocated patella). While this is likely the diagnosis, Dr. Halanski wanted to consult with other Orthopedists and Dr. Pauli before making any kind of a recommendation. We learned from Dr. Pauli at last year's visit (April 2012) that Elliot's disorder affects the collagen gene. Elliot may have more difficulty recovering from surgery because his cartilage may not repair as well or as quickly as you and I.

We head back for an entire day in Madison on July 10th for a 12pm appointment with Dr. Halanski and 2:30pm appointment with Dr. Pauli. I expect we'll have a lot more info to digest at that point, and I will share an update at that time.

Janet