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Entries in Lou Gehrig's Diseas (2)

Friday
Jun012012

Athlete Strikes Back After Lou Gehrig's Diagnosis at 27

Pete Frates, 27, was diagnosed with ALS in March. (Courtesy Pete Frates)(BOSTON) -- Pete Frates, a 27-year-old baseball player from Beverly, Mass., was in the best shape of his life. But a wayward pitch to the wrist and the lingering weakness that followed marked the start of a tragic turn.

"There were no broken bones, so they started to look for nerve damage," Frates said.

Six months of tests would reveal something far worse than a damaged nerve. He discovered in March that he has ALS, a deadly neurological disease that usually strikes people in their 50s and 60s.

"The man upstairs, this is his plan for me," said Frates, whose sculpted muscles are destined to waste away, trapping him inside a paralyzed body.

ALS, better known as Lou Gehrig's disease after the Yankee slugger, kills the nerves that control movement, relentlessly robbing its victims of the ability to walk, speak, eat and even breathe. But Frates, a team captain his whole life, is ready to play ball.

"Instead of wasting energy on the negative, let's use the energy in a positive way," he said. "Let's raise some awareness; raise some funds."

About 30,000 Americans have amyotrophic lateral sclerosis, landing the condition in a category of rare and often under funded "orphan" diseases. But experts say the number is deceiving because each new diagnosis is offset by someone's untimely death.

"One in 500 people will die from ALS," said Dr. Robert Brown, chair of the Department of Neurology at the University of Massachusetts Medical School in Worcester and president of the ALS Therapy Alliance. "And we call it an orphan disease?"

It is rare, however, to see ALS in someone as young as Frates, who is statistically unlikely to live past 32.

"The sense of tragedy looms even larger when someone is so young," said Brown, who has seen patients as young as 11. "The irony is that at a time when their muscles are wasting away, we see extraordinary courage and motivation, and what can only be called strength."

Frates hopes to use his youth and every ounce of energy to change the face of ALS, and convince the country a cure is worth fighting for.

"We need more funding at a federal level," he said, adding that the one treatment approved to slow disease progression offers some patients a few extra months, at most. "If that's all people with ALS have to lean on, it's unacceptable. We need to do more."

Frates' father, John Frates, said he can't think of a better person to rally resources for people with ALS, many of whom have been silenced by the disease. "He's always been a leader; a captain," he said, his voice shaking. "It's just the guy he is. It's always about the team."

Frates has always been a driven athlete, playing baseball since he was three. Frates was team captain for Boston College, and even tried out for the majors. "That's the most challenging part of this," John Frates said. "Watching his body let him down. He played by the rules: no smoking, no drugs, always worked out."

But ALS doesn't discriminate. Indeed, some studies suggest that it might even disproportionately affect athletes.

"The concept that this disease could be overrepresented among athletes has been in the medical literature for a long time, and no one underscores that concept more than Lou Gehrig," neurologist Brown said. "But the interesting question is: Does athleticism set the stage for motor neuron degeneration, or does that same property that makes a person a great athlete also make them susceptible to the disease?"

In the 11 weeks since Frates was formally diagnosed, he has seen evidence of the disease's swift progression.

"My calf muscles and ankles seem to be slowing first, making me a little clumsier than usual," he said. "I'm definitely not running or throwing the ball around as much."

And Frates' left hand below the wrist smacked with a speeding ball last summer has lost 90 percent of its function. Some experts think such injuries may act as triggers for a disease that lies dormant in the nervous system.

"It may seem like an everyday encounter, so to speak, but in the right setting it may trigger motor neuron degeneration," said Brown. Or, he added, injuries might signal the earliest symptoms of the disease.

"If an ankle gets weak, people might catch their toe when stepping up on a curb and fall," said Brown. "It's still an open question, which came first: the fall or the weakness."

Either way, however, Frates was destined to be afflicted with ALS. Researchers have started to uncover the biological roots of the disease, opening doors for new treatments.

"I'm cautiously upbeat about where things are going," said Brown, who has long been studying the genetic causes of ALS. "When we understand the cause, we can see how the molecular dominos fall. It turns out there are a number of ways a cell can fall apart, so at least we have the targets."

But Frates is short on time and eager for a breakthrough. He hopes more funding will accelerate the drug-discovery process, and he's ready to do his part. Less than two months after his diagnosis, "Team Frate Train," a group of Frates' family and friends, raised $27,000 for New York City's Walk to Defeat ALS.

"I hope it's a microcosm of what will happen in the greater population," he said. "The support I've seen has been overwhelming, and I can't thank everyone enough."

Determined to get the word out on ALS across the country, Frates threw the first pitch for the Boston Red Sox at Fenway Park Wednesday as part of Major League Baseball's ALS Awareness Day.

"Hopefully, people will see the juxtaposition of me hitting home runs and making diving catches just last year, to limping out there and throwing a pitch from 40 feet instead of the mound," he said. "If they see a 27-year-old guy in the prime of his life dealing with this, maybe it'll get them thinking about what they can do to help."

Donations to help fund ALS research can be made through the Pete Frates #3 Fund or through CVS/ALS Therapy Alliance.

Copyright 2012 ABC News Radio

Wednesday
Apr182012

Lou Gehrig's Disease: Patients Take Research into Their Own Hands

Courtesy Eric Valor(SANTA CRUZ, Calif.) -- Though his body betrays him, Eric Valor's mind is still strong.  Diagnosed with Lou Gehrig's disease in 2004, the 43-year-old relies on machines to move, talk, eat and breathe.  But that hasn't stopped him from running his own drug trial.

With help, Valor has been injecting sodium chlorite, a chemical used by water treatment plants, into his paralyzed body through a feeding tube.  He's convinced it's the active ingredient in NP001, an experimental drug made by Neuraltus Pharmaceuticals Inc., and other patients are following his lead.

"My original plan was to keep it secret until I could report with confidence that it was safe and even marginally effective," said Valor, who started taking sodium chlorite in October 2011.  "But the secret got out, so I made a website to try to capture data as best I could."

From a special bed in his Santa Cruz home, Valor uses only his eyes to control a ceiling-mounted computer -- an invention from his days as a computer specialist.  He is able to track his disease progression and that of more than two dozen other patients taking sodium chlorite.

He hopes the makeshift drug will buy them all time until NP001 is approved by the U.S. Food and Drug Administration.

But experts say the DIY approach is dangerous.

"It's pretty frightening," said Dr. Jonathan Glass, neurologist and director of the Emory ALS Center in Atlanta.  "I think it's a cry of desperation for these folks, using something not made to strict standards with no evidence it works."

But people with Lou Gehrig's disease, also known as ALS, are eager to find out whether sodium chlorite works quickly and on their own terms.  Frustrated with the pace of clinical research, they've joined forces to tackle the best leads on short order, from off-label drugs to stem cell transplants, and now makeshift NP001.  It's a far cry from a properly designed clinical trial, which has a control group to weed out the infamous placebo effect.  Still, the DIY design puts patients back in control.

Research papers and patent filings suggest the vaguely-named NP001 could be sodium chlorite, but Neuraltus Pharmaceuticals Inc. has not publicly confirmed the drug's formula.  Calls to the company were not immediately returned.

The results of a phase 2 clinical trial of NP001 are expected to come out later this year.

Copyright 2012 ABC News Radio







ABC News Radio