Entries in ALS (7)


Writer Diagnosed with ALS Taps Out Book with Thumb

Photo courtesy the Spencer-Wendel family(NEW YORK) -- Susan Spencer-Wendel only Googled ALS once.  And then never again.

Instead of focusing on the debilitating disease with which she was diagnosed in the summer of 2011 at the age of 45, the former Palm Beach Post court reporter set out on a year-long journey of joyous living.

The year included a special trip with each of her three children, discovering her birth parents, trekking to the Yukon to see the auroras, tattooed permanent makeup and supervising the building of a tiki hut in her Florida backyard.

Spencer-Wendel's story is chronicled in her book, Until I Say Good-Bye: My Year of Living With Joy, available on Tuesday.  The book was, in large part, tapped out with Spencer-Wendel's right thumb on her iPhone as she lost the ability to use her hands.

Spencer-Wendel, 46, wrote the book as a gift to her children, but singled out the most important message she wants readers to take away from it.

"Live with joy no matter what!  It is possible," Spencer-Wendel wrote to ABC News in an email.

Emails from her iPhone end with, "Sent from my iPhone. Thank God for technology."

ALS, amyotrophic lateral sclerosis, is more commonly known as Lou Gehrig's disease.  It's a disease that affects the nerve cells in the brain and spinal cord.  As the nerve cells die, messages cannot be sent to the muscles, which slowly leads to weakening and the inability to move.  Patients often die within three to five years of diagnosis.

"I can't fight what is happening to me," Spencer-Wendel wrote in the book.  "There is no cure for ALS."

When Spencer-Wendel suspected she had ALS, she considered hiring a hit man to murder her.

"I had sat in court with hit men many times," she wrote.  "I was uniquely qualified for a premeditated murder -- of myself."

But she ditched the idea:  "Dumb idea.  Messy.  Awful."  She also bought two books on suicide, but never read them and knew she could not do that to her family.

Despite her honest telling of some of her darkest moments, her joyful stories far outnumber the sad ones.

After being formally diagnosed in June 2011, she said she knew she had at last one more year of good health.  Sitting in a Burger King parking lot with her husband John who "can eat at any time," she decided to make the most of her year.

"To take the trips I'd longed to take and experience each pleasure I'd longed for as well.  To organize what I was leaving behind.  To plant a garden of memories for my family to bloom in their futures," she wrote.  "Lou Gehrig was an athlete.  ALS took his talent immediately.  But I was a writer.  ALS could curl my fingers and weaken my body, but it could not take my talent."

Copyright 2013 ABC News Radio


NFL Players Risk Death from Alzheimer's Disease, ALS

File photo. Rob Tringali/SportsChrome/Getty Images(NEW YORK) -- Former National Football League players are more likely to die from neurodegenerative diseases like Alzheimer's and ALS, a new study found.

The study of more than 3,400 long-term players between 1959 and 1988 found the risk of death from neurodegenerative disease was triple that seen in the general population, and adds to a burgeoning body of research linking contact sports to chronic brain disease.

"Our results are consistent with those from other studies," said Everett Lehman, an epidemiologist with the National Institute for Occupational Safety and Health in Cincinnati and lead author of the study published today in the journal Neurology. "No one study can make a definitive conclusion about whether concussions cause neurodegenerative disease; the body of literature is what's important."

Of the 334 players who died during the study follow-up, 27 had neurodegenerative diseases that caused or contributed to their deaths, according to the study. The risk of death from Alzheimer's or ALS was nearly four times higher among former NFLers. There was no increased risk of death from Parkinson's disease.

But the players' concussion histories were unknown, raising the possibility that factors other than head trauma might be at play.

"We can't directly link concussions and neurodegenerative disease," said Lehman, explaining how his study relied on death certificates to probe the incidence of neurodegenerative disease. "I think preventing concussions is a logical step to take, but whether that will result in a reduction in chronic neurological disease remains to be determined."

The median age of death from all causes was 54, according to the study.

Previous studies have linked contact sports to chronic traumatic encephalopathy or CTE – a progressive brain disease with features of Alzheimer's, ALS and Parkinson's disease. Lehman said it's possible some of the NFLers in his study had CTE, which can only be diagnosed by a brain autopsy.

"There's no way of knowing," he said. "The symptoms are all very similar."

CTE can also manifest as rage and depression. In February 2011, former Chicago Bears defensive back Dave Duerson fatally shot himself in the chest, leaving a note requesting his brain be sent to the "NFL brain bank" for study. He was later diagnosed with CTE. Former San Diego Charger Junior Seau's brain was also donated to the brain bank after his suicide in May. The results are pending.

Growing awareness of the long term impact of concussions has prompted some former NFLers to sue the league, claiming it downplayed the risks. Other players have signed up to donate their brains to research – a gift they hope will bolster concussion research and protect future athletes.

And the NFL today announced it would donate $30 million to support research on medical conditions affecting athletes, including concussions and late-life neurodegenerative diseases.

"We hope this grant will help accelerate the medical community's pursuit of pioneering research to enhance the health of athletes past, present and future," NFL commissioner Roger Goodell said in a statement. "This research will extend beyond the NFL playing field and benefit athletes at all levels and others, including members of our military."

Copyright 2012 ABC News Radio


Lou Gehrig's Disease: Seth MacFarlane Responds to 'Ted' Backlash

Jason Merritt/Getty Images)(NEW YORK) -- Ted writer Seth MacFarlane is defending a punch line that sparked outrage among people with Lou Gehrig's disease and their supporters.

"ALS is a horrific tragedy for those who suffer from it, and by no means do I or anyone associated with this film have anything but compassion for the individuals afflicted," MacFarlane said in a statement. "However, the joke in the film is made at the expense of our villain, Rex, and not at the expense of those suffering from the disease."

The joke, "From one man to another, I hope you get Lou Gehrig's disease," shocked movie-going patients and advocates, who say it crossed a line.

"I didn't expect to go to a movie and sit with an audience laughing at the expense of people with ALS," said Randy Pipkin, who was diagnosed in 2005. "I think the message this film sends out is a huge slap in the face to people dying from this horrific disease."

Lou Gehrig's disease, also known as ALS, progressively robs people of their ability to move, speak, eat and breathe. There is currently no cure.

The punch line prompted an online petition urging MacFarlane to apologize and donate $200,000 of the movie's proceedings to ALS research.

"The thing that Mr. MacFarlane and others fail to realize is that ALS sufferers are some of the kindest, compassionate, thoughtful, and loving individuals one will ever meet," Bridget Reeves Jeter, whose mother has ALS, wrote in the petition posted at "Wishing ALS on another individual is really nothing but a foundationless insult, rather than an edgy, humorous scatological quip, as was intended."

But MacFarlane, 38, who is famous for his boundary-pushing humor, argues the "mere mention of any disease should not be cause for ire."

"I lost my mother to cancer, yet there is a joke in the film which contains the word cancer," he said. "I urge analysis of context, lest the 'outrage industry' get the better of us."

Ted scored $54 million at the box office last weekend, and the offensive punch line has been making the rounds on Twitter ever since.

"We just want to stop this alarming trend before it becomes too widespread," Traci Bisson of the ALS Therapy Alliance, a Boston-based advocacy group, said in a statement. "We want to make it clear that ALS, or Lou Gehrig's disease, is not a laughing matter for people and families suffering from this life-threatening illness."

Jeff Lester, a self-professed MacFarlane fan with ALS, says the joke went too far.

"This line from Ted is something that never should have been said much less survived the editing process for a major movie release especially as a punch line for a comedy," Lester wrote in an open letter to MacFarlane and actor Mark Wahlberg, who delivers the line, posted on Facebook. "From one man to another, I hope you or anyone you know or love NEVER GETS Lou Gehrig's disease."

Copyright 2012 ABC News Radio


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


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


Study: Lou Gehrig's Disease Linked to Longer Ring Finger

Jupiterimages/Thinkstock(LONDON) -- Palm readers profess to see the future in a person's hands but fingers might offer clues about a person's prenatal past, a developmental period that possibly influences behavior and health later in life, scientists say.

The latest research links long ring fingers and amyotrophic lateral sclerosis, also known as Lou Gehrig's disease, possibly shedding light on the elusive condition.

Despite the discovery of several genes known to cause the rare hereditary form of the deadly disease that killed Yankee slugger Lou Gehrig at 37, the underlying cause of the common form of ALS remains a mystery. But a team of British researchers thinks prenatal testosterone exposure might be involved.

"We know that ALS is about 1.5 times commoner in men than in women, and we know that men are exposed to more testosterone during development than women," said Dr. Ammar Al-Chalabi, professor of neurology and complex disease genetics at London's Institute of Psychiatry and director of the Motor Neuron Disease Care and Research Center at King's College London in the U.K. "We also know that nerve cells have many testosterone receptors on them, and if you disrupt those receptors, those cells die. They need testosterone for some reason."

Because few pregnant women would be willing to offer up their baby-bearing bellies for prenatal testosterone testing, researchers have come up with a proxy: finger length. During development, the male hormone is thought to influence the ratio of index finger to ring finger length, called the 2D:4D ratio (second digit-to-fourth digit). A relatively long ring finger and therefore low 2D:4D ratio is thought to reflect high levels of prenatal testosterone. That's why men, on average, have a lower ratio than women.

Based on the careful calculations of four independent measurers who were unaware which subjects had ALS, the researchers found that the 2D:4D ratio among 47 people with ALS was significantly lower than in 63 controls. The study was published Monday in the Journal of Neurology, Neurosurgery, and Psychiatry.

But Al-Chalabi cautioned that having a relatively long ring finger doesn't boost an individual's risk for ALS.

"It's purely averages," he said. "Just as you couldn't look at a hand and say definitively whether someone was a man or woman based on finger length, you can't look at one particular hand and say that's someone's going to have ALS. But if you looked at 1,000 hands, you'd be able to say there's a tendency."

Copyright 2011 ABC News Radio


Study Says Long Ring Fingers Associated with ALS

Thomas Northcut/Photodisc/Thinkstock(LONDON) -- Researchers have identified long ring fingers with the degenerative nervous system disease amyotrophic lateral sclerosis, or ALS, more commonly known as Lou Gherig's disease.

The study from King's College London, as reported by HealthDay News, does not say that people with long ring fingers have ALS, or will develop it.

Researchers looked at 110 people, some of whom had ALS. After findings suggested that ALS patients had longer ring fingers, researchers hoped they had perhaps found a biological indicator.

Scientists understand very little about ALS, which is fatal, since it can run in families or develop at random.

Copyright 2011 ABC News Radio

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