CaliforniaLyme
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From The Times September 10, 2007
My battle to keep walking
When Daniel Max was 27 his legs started to fail him. Within a year he could barely walk. Fifteen years later, while writing a book, he came across research offering hope that there might be a cure to his condition Nobel Prize winners are the movie stars of the medical world. What they do, say, think about - that's what we pay attention to. So one day in 2003, when I was working on my book on a family in Italy with incurable insomnia, I was surprised to get a letter from Stanley Prusiner (who won the Nobel Prize for Medicine in 1997), an expert on Fatal Familial Insomnia (FFI), with some hope for me: ``I am quite familiar with your disease and hope that our work will stimulate a cure some day.''
My disease was - perhaps - something called Charcot-Marie-Tooth syndrome, an agglomerate of inherited conditions that affect the legs. I had told Prusiner about it when asking him about his research on FFI. Some sufferers wind up in wheelchairs; some don't notice the condition; a great many probably don't have CMT at all but something similar. Genes? Environment? Chance? The body takes so many knocks as it goes through the world. Anyone with this or similar diseases soon winds up learning the old adage about neurology: diagnose and v�monos- diagnose and get out of there! And here was a Nobel Laureate coming to me and saying he could help. What was the connection between my limp and fatal insomnia?
It always begins with a drop and a trip. First the drop. It is 1988. I am playing baseball with my brother on the lawn at our father's summer house. It is a bright day, spring. You can fill in the birds, the flowers, trees in leaf. We have played catch with each other most of our lives. We throw the ball. But one time I put my mitt out, and the ball pops in and falls out. I pick it up and throw it back. My brother catches it, throws it to me again - to my backhand - and again the ball falls on the ground.
Ours is a fierce family (the love is underneath). My father, years before, had let us know that he did not like us to get things wrong. He was on the porch now, showily not watching, considering his job as done. My brother was 30. I was 27. My brother threw the ball once more, this time to my forehand. I opened my glove wide, knowing already, somehow, what would happen, and the ball popped in and out. Something felt wrong. Had I mistimed the catch? Had my glove lost its flexibility with lack of use? I asked my brother. ``You know how to catch a baseball,'' he said flatly.
Now, the trip. It is six months later. I am working as an editor at a publishing house. The publisher's officers are in both New York and Boston. I would take the Eastern shuttle from one to the other. One day my boss and I were getting out of the Park Street subway stop in Boston, having nearly completed rush hour in the city. The businessmen and the women with their jackets were charging up the stairs from the Underground, and we with them. I fell. My foot caught the last step but one, and my arms splayed and my bag went flying. Suits, tight city faces, passed me as I lay there. My boss stopped, turned, and asked me softly if I was OK.
I suspected Lyme disease but the test was negative. Then came the medical men, bearing instruments with initials. There is an order to diagnostic testing. You start with the simplest, cheapest technology and you work your way up the scale. X-Ray. CAT-Scan - neither showed any problem. Now we were ready for an MRI - the prince of diagnostic tools. It was huge, a pile of polymer with a gurney at its bottom that slid you on rails, as if into a tunnel. Like a god the MRI could see through bone. But the MRI saw only health.
But I was fading. I knew that. I was limping now. Then I began to sway. I was with my girlfriend in line for a movie, when I sensed the ground shift. In a second, after 25 years of not thinking about it, balancing was suddenly a conscious act. I couldn't just talk now; I talked and balanced. I shook hands and balanced. I hit a tennis ball and balanced. It was like I was standing on a water bed. I took the bag off my shoulder and put it between my feet and squeezed, hoping that would stop the instability. When the line moved forward, I was grateful. Walking was easier.
What did I think? Well what can you think? We all know disease is waiting somewhere down the road but I was scared, amazed, humiliated, frantic and phobic. It was too soon. And it was all so unclear. I had left clarity for murk - that was one thing I kept thinking. I didn't cry, at least not that I remember. Perhaps others remember differently.
It was a strange sensation not being able to stand up anymore. I had to know where things were to lean against. Every mail box and signpost on the street began to matter. The angle of the pavement became of intense concern. Speed was my ally.
The experience is like riding a bicycle when the seat's too high. As long as you're moving, it makes no difference. But when you slow down, you are exposed. You start looking for a place to grab on with your hands or a raised curb you can land on with your feet.
I had been at this for almost a year: living off Ibuprofen for the increasing pain in my hip. I had continued to work, but with difficulty. Now it was time for an EMG. Christmas week. Singing and trimmed trees. I was indifferent to tests by now. What was another a set of initials to me? I brought the newspaper. The Neurological Institute was on an uneven corner of Upper Manhattan, soot in the carved angels above the door. A doctor met me in his white coat and set me on a gurney. I was up at the other end, a long way away, reading the New York Times.
Then a needle no bigger than a sewing needle was put into my muscles and the signal the nerve made was recorded. They grew interested. I seemed to have unquiet muscles. A group crammed into the tiny room now. They put the needle in for show, and it buzzed. They left it there and it buzzed some more. The group listened and looked at the green lines on the oscilloscope. One pointed the others toward my feet. ``Has he ever had polio?'' he asked.
Fifteen years later and that's it. No polio, of course. No other symptoms. No wheelchair either. The disease plateaued. I have to wear plastic polymer braces on my legs, like huge Japanese soup spoons.
I got married and had two children, a boy and a girl. I could no longer edit so I was writing a book about a Venetian family who have suffered from the worst disease in the world, Fatal Familial Insomnia, for 200 years. It is a disease that makes anyone with my own unknown condition feel as if he'd won the lottery. But the book was really about dealing with being sick. They live in a thunderstorm, I in a drizzle. Still there is a bond.
They have lived, loved, married and had children. Were these not the same challenges I faced? Then came the first symptoms - the pupils contracted, they would sweat uncontrollably, and lose the ability to nap. Then total insomnia.
By the time I met the family, in 2001, they were fighting back. There had been a brave uncle who, in 1983, had answered the neurologist who gave hope for a cure: ``Cut the nonsense. I assume when you're done you'll want the brain.'' After his death, the family was awakened to the 21st century, to molecular biology and genomic medicine. Now at least they had a name, if not a cure, for their condition. They raised money for research. And they met Stanley Prusiner, the medical expert.
FFI turns out to be a prion disease, similar to CJD. Prions are proteins which, when they are healthy, do the thousands of things the body needs - your hair is mostly protein and so is your skin. Their efficacy depends on their shape. So when proteins misfold they cause problems and behave like viruses. Most prion diseases can be inherited (like FFI) or passed on (like CJD). Prusiner used the family's tissue, full of the virulent prions that caused their condition, to show this. It was the uncle's brain, not his mind or his spirit, that helped Prusi-nor win the prize he called The Big One. And me?
After Prusiner sent me the letter suggesting a cure, an e-mail followed from his assistant: Prusiner wanted to clarify that no one was working directly on Charcot-Marie-Tooth syndrome in his lab. He just meant that in a general way his work might cure me.
What he meant was that a lot of other diseases are caused by non-infectious misfolded or malformed proteins, call them prions lite. If you can defeat the process by which proteins misfold in one disease, you can help in others. The list of diseases Prusiner might help is long, beginning with Parkinson's disease, Alzheimer's disease, and adult-onset type 2 diabetes, the diseases most similar to prion diseases. Somewhere down the list are the diseases, similar to whatever I have - not prion diseases, not neurodegenerative diseases, but still neuromuscular diseases involving proteins.
There was nothing to do but go back to the unsleeping Italians, believing - true as it turned out - that if Prusiner couldn't teach me anything about being sick, maybe the Italian family would.
D.T. Max is the author of The Family That Couldn't Sleep: Unravelling a Medical Mystery(Portobello), �17.99.
-------------------- There is no wealth but life. -John Ruskin
All truth goes through 3 stages: first it is ridiculed: then it is violently opposed: finally it is accepted as self evident. - Schopenhauer Posts: 5639 | From Aptos CA USA | Registered: Apr 2005
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