My battle to keep walking

[Guest guest]

My battle to keep walking

When 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

http://www.timesonline.co.uk/tol/life_and_style/health/features/artic

le2412902.ece

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 vámonos– 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.