Why Do OMS Research?

Many parents ask me, "How did you get into OMS research? Are you making any discoveries?"

When I was a neurology resident, I saw a little girl in a wheelchair, shaking all over when she tried to do anything, unable to speak clearly or feed herself. She had chronic opsoclonus-myoclonus syndrome (OMS). That was my first close-up encounter with this serious and enigmatic movement disorder. To my surprise, there was nothing to do for her but give her steroids. They were not helping much. I felt bad for her.

I had seen children suffer and die from poorly understood diseases in medical school and during my earlier pediatric residency. But I always had the feeling that 'they'—researchers somewhere—were working on the problems and cures were in the works.

Not the case. There was no research on OMS going on. Children with OMS were falling through the cracks. Only then I realized that clinical medicine can go only so far. Beyond that edge, what was out there? Only the realm of science. Medicine must always find its way through science.

After three years of basic science training, I took my first faculty post. The question was how to get enough patients with such a rare disorder together to do meaningful research. The next logical step seemed to be to build a national center for myoclonus. To my surprise, most of the telephone calls were about OMS. They told of long delays in getting a diagnosis, inadequate treatment, relapse, and persistent behavioral problems.

The learning curve on OMS was, and continues to be, steep. We made in-roads by combining treatments, using two, three, or four agents. There were marvelous successes and bitter failures. I didn't feel I was getting any closer to preventing those failures.

That’s why I decided to pursue training in neuroimmunology to learn how the immune system causes brain injury in OMS. Another steep learning curve. The idea to use biomarkers to guide treatment began to take hold. We needed to learn about the basis for successes as well as failures. I realized that drug trials must be linked to basic research; both must be done at the same time. This was a different philosophy than the 'try it and see what happens' approach of so many drugs trials even today.

The National Pediatric Myoclonus Center is now the largest pediatric OMS treatment and research center in the world. For the first time, we have a critical mass of samples and clinical data to support new cutting edge projects on innovative treatments and an eventual cure. We discovered excess B-cells in spinal fluid and introduced the use of anti-B-cells treatments for OMS, instituting early front-end combination immunotherapy and raising the standard of care for children with OMS. We are doing the best research we have done. We are collaborating with more scientists and physicians than ever. There is much yet to do.

Return to Home Page