Looking for a lifeline; Finding little support, grieving family pushes for more research on rare Creutzfeldt-Jakob disease.

Byline: Elizabeth Cooney

The following correction was published Jan. 10, 2008:

Linda Horton was the fiancee of Joseph P. Witkowski, who died at age 57 of sporadic Creutzfeldt-Jakob disease. Because of a photographer's error, her name was incorrect in a caption in a story in Monday's Telegram & Gazette.

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CLINTON - Joseph P. Witkowski used to wait until the last minute to leave for his job as a correction officer at the state prison in Shirley. He would fly down the staircase of his two-family home, his feet barely touching the stairs. In November 2006 he started reaching for the railing, his fiancee Linda Horton recently recalled. Looking back, that was one of the first signs of a swift, mysterious decline into a disease confirmed only after his death in June.

His family - Ms. Horton; his father, Joseph C. Witkowski; his sister, Barbara Brigham; and his nieces, Kimberly and Kelly - never lost their footing. They marshaled their strength as the attempts at explanations mounted - Alzheimer's, Parkinson's, hydrocephaly, cerebellar ataxia dementia. They struggled to understand a rare disease with no cure and no treatment. They pulled whatever political levers they could think of to transport him to the only glimmer of hope: a clinical trial across the country.

"You feel like you're hitting a brick wall," Ms. Brigham said. "But he would have done the same for us."

Mr. Witkowski died at age 57 of sporadic Creutzfeldt-Jakob disease, a neurological disorder better known for the human variant of mad-cow disease that surfaced in Great Britain in the 1980s. CJD strikes one in a million people per year in the United States, which translates into 250 to 300 cases. The sporadic form accounts for 85 percent of those; the other 15 percent come from eating infected beef, being contaminated with infected tissue through a medical procedure, or carrying a genetic mutation that increases susceptibility.

No one knows what causes CJD. It belongs to a group of prion diseases, named for proteins that change into abnormal, infectious clumps that destroy brain cells. The result is invariably fatal. There is no cure, no treatment and often no clue to distinguish it from other brain diseases.

Mr. Witkowski's illness began with the balance problems his family spotted, followed by depression and memory gaps. Later, he lost his language and the ability to walk.

They are convinced there are more people like him, misdiagnosed with other neurological disorders. They are frustrated by how few doctors are familiar with the disease and how little research is being done on it.

"With all the billions of dollars spent in health care, how can there not be even one doctor on the East Coast who is knowledgeable about this disease?" Ms. Brigham asked.

Mr. Witkowski never made it to the one research center working on CJD. At the University of California at San Francisco, Dr. Michael D. Geschwind is conducting a trial of quinacrine, an old malaria drug that showed promise clearing prions from a model of the disease created in a laboratory dish. Two labs, one in Japan and another at UCSF, independently discovered this activity in quinacrine, which has a chemical structure similar to the old anti-psychotic drug chlorpromazine. That was important because any drug candidate for prion diseases would have to be able to cross the blood-brain barrier to reach the brain. Anti-psychotic agents have that ability.

At this point the UCSF researchers are still recruiting patients to help them determine if quinacrine helps, does nothing, or even worsens human prion diseases, Dr. Geschwind explained. Like medical researchers across the country, he and his colleagues are feeling the constraints of tighter federal funding for research.

"Rare diseases like CJD don't often get the attention of other more common diseases, so funding can be difficult," he wrote in an e-mail message. "Despite the poor funding prospects, we are making progress. What we learn about prion disease and treatments for prion disease may also be applicable to other more common neurodegenerative conditions, such as Alzheimer's and Parkinson's."

Mr. Witkowski's family is calling on the University of Massachusetts Medical School to join that effort, asking it to devote some of the funds from Gov. Deval Patrick's proposed $100 million life sciences initiative to the cause.

"We want something people can go to," Ms. Brigham said. "We were happy with just the East Coast until I read about the $100 million here. Could we have a piece of that - just one room, one doctor?"

It was a neurologist at UMass Memorial Medical Center who in April diagnosed Mr. Witkowski with CJD, based on his gait imbalance, falls, memory decline and personality changes, combined with brain MRI findings.

Dr. Neeta Garg had seen one case of confirmed CJD before, during her residency at a hospital in New Jersey, and another suspected case in India during a fellowship there.

"There is no single diagnostic test for CJD, and that along with its rarity makes it somewhat difficult to diagnose," she said.

Armed with that diagnosis, Ms. Brigham and her daughter Kelly did their own research, scouring the Internet and calling hospitals and health agencies in Massachusetts and around the country.

When they found out about Dr. Geschwind's work, they raced to find a way to fly the desperately ill Mr. Witkowski there in an air ambulance - or to arrange for him to be in the trial closer to home - hoping he could have a few more months, weeks or days to live.

He didn't make it. In an eloquent letter to U.S. Sen. Edward M. Kennedy just days before he died, Ms. Brigham wrote that they hoped not only to help Joe, but to make it easier on other families who might face the same disease.

"We do not want them to hear the same `there is nothing to be done' we have heard over and over," she wrote.

After Mr. Witkowski died, Ms. Brigham talked with U.S. Rep. James P. McGovern, who in turn made her case to UMass Medical School dean Dr. Terence R. Flotte and interim chancellor Dr. Michael F. Collins. Mr. McGovern urged them to meet with Mr. Witkowski's family.

Ms. Brigham said the five family members met with a UMass Memorial neurologist Dec. 27 but hope to push further for research, "wherever and whatever it takes," she said last week.

Dr. John L. Sullivan, who leads clinical research at UMass Medical School, said the school is in the process of recruiting a new neurology chief who would then hire new faculty members.

"We would love to have someone working on prions here," he said. "It's so difficult when you have a disease that we don't understand how it happens or for which we have nothing to offer therapeutically."

Sitting at their kitchen table in September, Ms. Brigham recalled one person she spoke to at a national health agency who sympathized with her plight while telling her there wasn't anything he could do.

"I said, `Don't you want to know how he got this?' He said, `It's not a popular enough disease, like AIDS,'" she recalled, shaking her head.

"Sorry, Joe."

Contact health reporter Elizabeth Cooney at [e-mail].

ART: PHOTOS

CUTLINE: (1) The family of Joseph P. Witkowski, who died in June at age 57 of Creutzfeldt-Jakob disease, are frustrated by how few doctors are familiar with the disease and how little research is being done on it. Pictured are, from left, Kelly J. Brigham, Kimberly M. Brigham, Linda J. Huston, (SEE CORRECTION) Barbara F. Brigham and his father, Joseph C. Witkowski, all of Clinton. (2) Mr. Witkowski

PHOTOG: (1) T&G Staff/TOM RETTIG