Joe’s Odyssey

In 1970 at the age of 7, I appeared to be a completely healthy little boy, my body was failing and no one knew why. I went from walking and running to falling with every other step. My parents’ concerns mounted and I ended up in a doctor’s office with a devastating diagnosis of Cerebral Palsy at age 7. This diagnosis went unchallenged for 30 years. Although I always knew in the back of my mind that I did not have this disorder, there were subtle differences between people with this C.P. and myself.

My body progressively became worse. I spent about 25 years confined to a wheelchair. Throughout those years I lived a productive life and had accepted the way I was. In April of 2000, while having a conversation with my physician, I expressed to him that I was concerned with my 30year old diagnosis. I told him that I simply did not believe that I had Cerebral Palsy, so my doctor agreed to look in to the matter. After having an M.R.I. I was misdiagnosed again. Despite my objections I was still told that I had Cerebral Palsy.

Finally, on October 19 of 2000, I was properly diagnosed with a rare disorder called Dopa Responsive Dystonia (DRD) or simply Segawas Disease. With this disease your body stops making dopamine, which in turn causes one to have functional decline. Segawas Disease is not contagious. It is hereditary and claims its victims early on in childhood. With the proper diagnosis, it can be treated using the right medications and intensive physical therapy. If diagnosed on the onset of Segawas, a physician may give his or her patient medications that could suppress their symptoms to the point that the disease never has the chance to manifest its self.

Three months after being properly diagnosed I was using a walker, and in 3 more months I was walking unassisted. It has been 1 year since I took my first step, and it has been wonderful, to celebrate this miracle. I walked in the Avon Breast Cancer 3 Day event. For the past year I have felt jubilant, but at the same time I have been deeply disgruntled and saddened. There are many people out there that are still being misdiagnosed, and in some cases people never truly find the correct answers to their symptoms. I would have never been correctly diagnosed if it were not for my doctor’s awareness of Segawas Disease.

It is my greatest hope, my obligation, and my compassion to spread the word on this hereditary form of dystonia. I would like nothing more than for people to be properly diagnosed, and for these people to receive the same precious gift that has been given to me. If I can help one person out of his or her wheelchair by telling my story, then my 25 years in a wheelchair would not have been in vain.