M. ALEXANDER OTTO; The News Tribune
Published: October 9th, 2005 12:01 AM
Yale University could be on to a breakthrough in the treatment of chronic pain, and a University Place woman helped make it happen.
Pam Costa, 39, a professor of psychology at Tacoma Community College, has a rare disease that makes her feet burn so badly she sometimes trembles from the pain.
It’s called erythromelalgia, which translates from the Greek to “red limb pain.” In Costa’s case, walking even short distances brings intense pain. So does exposure to warmth, everything from the touch of bed sheets to summer weather.
“Any time it’s above 66 degrees, I hurt. The deep, searing pain goes down to the bone,” said Costa, who wears leather sandals without socks no matter the time of year because shoes set off the burning.
Erythromelalgia is a type of nerve pain – known as neuropathic pain – and is akin to the kind experienced by millions of people with diabetes, shingles, multiple sclerosis and AIDS.
“I could fill my clinics with patients with neuropathic pain who we can’t help or help only partially,” said Dr. Steven Waxman, professor and chairman of Yale’s Department of Neurology in New Haven, Conn.
That’s why Waxman and seven other scientists studying erythromelalgia are excited they’ve finally found what’s wrong with Costa and the nearly 40 members of her extended family who also have the condition.
They discovered this spring that the family members have a simple inherited genetic glitch.
Their genes tell their bodies to insert one wrong protein building block into the chain of 1,800 blocks that make up a channel on the surfaces of nerve cells in the feet and hands. The mistake gives the cells a hair trigger, making them too excited by warmth.
Waxman believes others with nerve pain might be born with a similar glitch or acquire it through disease or trauma. Now that the researchers have identified a major cause of nerve pain, they hope a drug can be made to target it.
That could mean no longer just making do with treatment, but perhaps fixing what’s wrong. Current drugs, Waxman said, aren’t specific enough to the heat-sensing nerve cells to work.
“We are making rapid progress,” Waxman said. “If we could turn off the channel, we could cure the pain. We could make a clean drug” to zero in on the problem “like a laser.”
‘The first breakthrough’
Costa and the 500 other erythromelalgia patients in 17 countries who belong to the Connecticut-based Erythromelalgia Association also are hopeful.
“It’s the first breakthrough we have that has the potential for an effective treatment,” said Lennia Machen, 48, a professor at Idaho State University and the group’s president.
Better treatments certainly are needed. There’s no end to the methods sufferers have tried for relief, including daily morphine pills and cutting pain nerves in the spine that go to the feet.
Costa’s family has been afflicted with red limb pain for at least five generations, all the way back to her ancestors in Wales and Scotland in the 1800s.
Her 67-year-old mother, Gayla Kanaster, has a less severe case. Still, she remembers young cousins in the 1940s huddled around the rim of a tub behind the family’s home in Pinson, Ala., near Birmingham. They soaked their feet to try to stop the pain.
The iceman came every other day, and at least some of his load wound up in the tub.
After a soak, the kids could run around for about five minutes before their feet again felt like they were on fire.
“It was really hard in my time with no air conditioning,” said Costa’s second cousin, Shirley Powell Longmire, 70 and still living in Pinson.
No answers for so long
Even now, many people with erythromelalgia sit for hours soaking their feet in cool water, something that can damage the skin so badly that infections set in and force amputations.
Sometimes nothing works.
Longmire’s daughter died in 1995 at 31, probably due to a Tylenol overdose that destroyed her liver.
“The only thing I can think of is she was in so much pain, that when the ibuprofen didn’t work, she took acetaminophen,” Longmire said, using the generic name for Tylenol.
For years, the Powell clan had no idea what was wrong. They called the affliction “Powell’s burning-foot disease.”
It wasn’t until scientists from the University of Alabama and the Mayo Clinic in Rochester, Minn., got interested in the family in 1965 that they finally understood.
Scientists like Waxman have been studying the family since.
His team found the Powells through the erythromelalgia group. When the Yale scientists came looking for an afflicted family, Costa’s mother, a board member, volunteered hers.
Waxman’s assistants took blood samples from the 26 family members Longmire gathered in her home last Halloween. Costa had her samples sent to Yale in November and February.
Research will continue
Back in the neurology lab, Waxman’s team took DNA from white blood cells and isolated the gene that instructs the body how to make the nerve channel. Then the researchers had to compare the Powell gene to the normal version.
“We found a needle in a haystack,” said Waxman’s assistant, Dr. Fuki Hisama.
Still, a lot of work remains before the discovery leads to treatments. Scientists need to figure out why one member of the Powell clan has the mutation but no symptoms. They also need to determine why some people aren’t born with erythromelalgia but get it later in life.
Other families are being studied, and scientists think more genetic glitches in nerve cells could contribute to the condition.
But the work done so far is particularly rewarding to the Erythromelalgia Association, because it likely would not have happened without the $60,000 the group donated to Waxman’s lab last year.
It was money raised one silent auction, one $15 membership, one Christmas card sale at a time over the past six years.
Machen, the president, helped form the group after going through 14 doctors before finding one who understood she had erythromelalgia.
Machen turned to a chat group on Harvard’s Web site to find others with her symptoms.
She and the five others she met realized “there was no way anyone would be attracted randomly to this rare little disease,” Machen said. So they formed the group to help others and push for research.
“It’s very typical to see that banding together,” said Mary Dunkle, a vice president at the Danbury, Conn.-based National Organization for Rare Disorders.
The group pushes for research on some 6,000 conditions that afflict too few people for drug companies and others to get interested in studying them.
“To have a disease many other people never heard of is a lonely feeling,” Dunkle said. “The tendency is to network to find others to share information with and do fundraising or whatever else is needed to get help.”
The erythromelalgia group has $22,000 for additional projects – peanuts in terms of medical science. They’re looking for more. So is Waxman.
The rare-diseases group recently gave a European scientist about $30,000 to look for other erythromelalgia genetic glitches.
The hope is that the small grants will be enough funding for scientists to be able to show similarities between erythromelalgia and more common types of nerve pain that affect millions.
If that happens, some source with deep pockets, such as a drug company or the National Institutes of Health, might step in to tackle a treatment. Yet help could still be years and hundreds of millions of dollars off.
Waxman, though, is grateful for the assistance he’s gotten so far.
The Erythromelalgia Association’s “funds are crucial for us,” he said. “They deserve a lot of credit.”
For more information on TEA and how to contribute go to www.erythromelalgia.org
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