WEST MILTON, OH — Artists use their work to communicate their vision of the world, but Gary Wickman's paintings are about the last way he has to communicate at all.

Wickman was diagnosed with ALS (amyotrophic lateral sclerosis, or Lou Gehrig's Disease), an incurable progressive neurodegenerative disease, three years ago. He is approaching its final stage.

"We were watching a PBS auction that included an oil-painting set. He turned and said, 'I think I could still do that,' " said Jill Wickman, Gary's wife.

In the past year, painting up to five hours at a stretch, Gary has produced dozens of small canvases.

"Everything is all about outdoors and nature. Maybe it goes back to where he grew up, on the Upper Peninsula," Jill said of Gary's Michigan upbringing.

All came from pictures he had seen or that were found on the Internet by his wife. Though he can barely sign his paintings, each is a riot of detail and color. Trained as a mechanical engineer, Air Force Maj. Wickman was preparing for his next posting — back to Wright-Patterson Air Force Base. Within days came the diagnosis. In the space of two months, Gary retired from the service after 20 years, the couple sold their house in Maryland and moved into what was once Jill's grandmother's house in West Milton.

"We just piled everything into the house, bought two Harleys and headed West," she said. Gary smiled as his wife recalled their summer of '03 farewell tour.

A year-plus later, the Harley was parked in favor of a wheelchair. Now the wheelchair has been replaced by an overstuffed recliner and a ventilator.

Don Shough has spent 13 years as a home health assistant, most recently with Gary and Jill. He has assisted a number of ALS patients.

"It's hard for a man to let somebody help you. It's especially hard when you can't do anything for yourself," Don said. Though Gary has lost most of his mobility and his voice, Don sees things in Gary the disease cannot touch.

"He's ready for the inevitable. He's a good man with a good sense of humor."

Gary communicates on canvas and through hand signs — and humor. He's not above teasing his wife with a twinkling eye and a sly glance.

Propped up against the TV in front of his recliner is a plaque from an Air Force buddy.

"A friend," it reads, "will come and bail you out of jail, but a true friend will be sitting next to you saying, 'Damn, that was fun!' "

FALCONER, NY — For Keven Hulings, the number four is special.

The same number once appeared on the jersey of baseball’s immortal Lou Gehrig — Hulings’ hero.

A victim of Amyotrophic Lateral Sclerosis, the New York Yankees hitter died in 1941 after a two-year battle with ALS — known since as Lou Gehrig’s Disease.

ALS, a disease of the nervous system, attacks muscle-controlling nerves. Eventually, all muscles — with the exception of involuntary muscles such as those in eyelids — are destroyed, and paralysis follows.

Today, Hulings is chalking up a 15th year of his own war against ALS.

The disease has wasted his muscles, wiped out his voice and immobilized his body. Yet, his mind races at the speed of sound, and unmistakable glints of humor light up his eyes.

When his voice succumbed to the disease, Hulings turned to technology.

Now, he once again ‘‘talks’’ and argues issues.

Hulings likes nothing better than debates, especially when he proves his challengers wrong. Offering no quarter to the lethal enemy stalking him, he lives with all the purpose and passion of that South Side boy who never missed an after-school baseball game, or a chance to cheer on his beloved Yankees.

Hulings also faces another challenge. About three years ago, he was diagnosed with diabetes, and daily insulin treatments were added to his regimen.

In April, Hulings competed in the two-day segment of the ninth annual Ride For Life fund-raiser for ALS research and patient services.

The wheelchair event in New York City is sponsored by RFL, Columbia University and the Yankees.

Along the RFL route, Hulings saw Gehrig’s birthplace, a home on 102nd Avenue, and visited Yankees Stadium.

‘‘It was a great time,’’ Hulings said, ‘‘except, the Yankees were beaten by the Toronto Blue Jays.’’

Hulings collected $1,500 in pledges for the fund-raiser, all of which he solicited through letters to businesses and individuals. With his cousin, Howard Hulings, and nurses, Jennifer Davidson and Patty Zdunski, supplying ‘‘push energy,’’ Hulings’ wheelchair was among the first to cross the Brooklyn Bridge and the finish line.

Several days ago, a television crew crowded into Hulings’ apartment, and Buffalo’s Rich Kellman interviewed his host. The film will be featured as part of the 2006 Buffalo Multiple Distrophy telethon, an annual Labor Day weekend event.

None of this would be possible, without the cadre of nurses who care for him around the clock, said Hulings.

‘‘I can be difficult. At times frustrations get to me ... sometimes, my leg or arm itches, and I can’t get a message out to them to take care of it fast enough,’’ he said. ‘‘But, we have bonded. We are family. We argue, we celebrate and, at times we commiserate.’’

Two of the care-givers who have been with Hulings the longest, are Jennifer and Jean Saylor.

The group, said Jean, ‘‘is a clan of individualists that only God could have put together ... We’ve become an integral part of Keven’s life. What’s important to him has become just as important to us.’’

Jennifer agreed. In addition to tending to her patient, administering medications, relieving itches and other annoyances, and monitoring the yards of tubing that crawl over and around his body, the nurse assists him in many other ways.

For example, when Hulings was not up to taking part in this year’s Billy Mead 5K run at Dunkirk, Jennifer entered the event as a representative of the Hulings ALS camp.

Patty said Hulings is ‘‘amazing ... very forceful.’’

Her involvement as his care-giver, she said, has been a life-changing experience. Other members of the group are Pamela Wesley, and Bruce Berry, who reinforces Hulings’ male perspectives.

Hulings was stricken with ALS in 1991. The former Cummins, Inc. employee was 35. He walked the last time in 1992, and his arms gave out two years later. A ventilator has taken over his breathing.

Does he ever despair? Does he ever ask, why me?

Pressing his chin against a device that guides a mouse from letter to letter, Hulings rapidly types responses, word by word, on the screen of a machine, called a DynaVox. Once messages are complete, they are then released by a computer ‘‘voice.’’

Hulings says it’s all a matter of a commitment to life. Not just to live, but to accomplish something.

‘‘ALS can’t take my mind, and I won’t let it take my spirit,’’ he said. ‘‘As long as I have those two things, I figure I have a life. ‘‘I’ve fought hard to live, and it’s well worth it even though I get frustrated at times — like when I want to hug my niece or nephew and I can’t. I hate it when I’m stymied by this damn disease.

‘‘I used to chase women — unfortunately, I didn’t run fast enough. I used to drink too much, and I played hard,’’ he said, with that same glint in his eyes. ‘‘Now my life has meaning. I have purpose, and I get to be Uncle Lou Gehrig’s right-hand man with a mission: to help people who’ve been hit by ALS or other diseases that wipe out their mobility.’’

Katherine Hulings says her son has ‘‘the tenacity of steel ... Keven never gives in. Once he makes up his mind, no one’s going to budge him, no matter what.

‘‘In 1997,’’ she recalls, ‘‘doctors told Keven he would die within a year or two if he left the hospital. They said he’d have to accept the fact he’d be hospitalized the rest of his life.’’

For months, Hulings refused to buy that prognosis. He could only exist in a hospital, he argued. He wanted to live. He wanted to go home. Thanks to family and friends an addition was added to his parents’ mobile home on Elmwood Avenue. Finally, with the help of a local physician, the rebellious patient was — as he puts it — ‘‘sprung’’ from WCA Hospital.

Nine years later, he’s still beating the odds.

‘‘He wasn’t supposed to live two years,’’ Mrs. Hulings said, ‘‘yet, here he is, still with us.’’

Leaving the hospital was a defining moment for the ALS patient. Battle lines were drawn. While the disease might take him down, Hulings would not allow it to take him out.

After settling in his apartment, he marshaled family members and friends, old buddies like the Kilmartin brothers — Bill, Kelly, and Sean.

‘‘They’re my brothers,’’ said Hulings, ‘‘even if they are Red Sox fans.’’

Months later, the Friends of HUGO — an organization focused on fund raising — and the HUGO Fund were founded. The fund continues to provide assistance to others with physical handicaps who wish to remain in homes.

In the spring of 1997, the HUGO Fund became part of the Chautauqua Region Community Foundation. Later, the HUGO Loan Closet was established and housed in space donated by Falconer’s J.P. Diamond Co. Available at the Closet are donated items such as walkers, wheelchairs, furnishings and many other items.

Through HUGO, those with physical disabilities also find assistance in cutting red tape and paperwork required to arrange home environments. In addition, a number of people are guided to appropriate agencies for assistance, such as the Veterans Administration, Medicare, etc. The organization also works toward legislative changes that will promote home care.

Each year, funds are made available for one to three college scholarships. Eligible to compete are high school seniors who wish to pursue professions that would enable them to help the physically challenged, and, who attend Falconer, Southwestern, Maple Grove, Jamestown and Frewsburg schools.

Fund-raisers, arranged by The Friends of HUGO, keep members more than busy, said Bill Kilmartin.

‘‘Since HUGO was organized, we’ve raised a total of about $50,000 at golf tournaments, alone,’’ he said.

Kilmartin describes Hulings as ‘‘a die-hard Yankees fan, who’s been giving me the business about the Red Sox, since high school days.’’

But, in 2004, when the Sox won their first World Series in 86 years, Kilmartin said, ‘‘Keven was the first person to share the big moment with me.’’

Robert Terreberry, a close friend of Hulings, was the first chairman of The Friends of HUGO, and headed the organization for some time.

‘‘Keven has tremendous fortitude and an uncanny ability to attract caring people to the HUGO cause,’’ Terreberry said. ‘‘In turn, he’s a very caring individual, the first to contact his friends on special occasions. When I came up a winner in a recent Chautauqua Lake Idol competition at Bemus Point, there was an e-mail from Keven, minutes after I returned home.’’

Like Hulings, Terreberry is convinced home environment should be an option for the handicapped.

‘‘It ensures a quality of life that just can’t be provided in an institutional setting. Because of that, most patients at home have more meaningful and longer lives. Keven’s case proves that. Aside from all the human factors, staying home is less costly.’’

Heading the HUGO Fund are: Harriet Willett, chairman, and Hulings founder. Others include: Kelly Kilmartin, treasurer; Robert Terreberry, scholarships; and, Jennifer Davidson, secretary and Loan Closet administrator.

? ? ?

Hugo is a nickname Hulings was given by a friend, back in the days, he said, when ‘‘all the guys’’ worked extra hours all week, so they could catch their favorite football games on weekends. The name also is an acronym for ‘‘Humans Under God’s Oddities,’’ related to people with debilitating health problems.

Hulings said he’s looking forward to busy days ahead. For one thing, he’s deeply involved in the Ride For Life’s efforts to come up with prototype housing for patients with ALS.

‘‘The medical gurus,’’ he said, ‘‘are trying to put all ALS patients in nursing homes, instead of places that would meet our needs. ALS does not affect the mind.

‘‘We have a lot to offer in that respect. What we need is a type of group home that provides private space as well as opportunities to meet and compare notes.

‘‘My dream,’’ he said, ‘‘would be to have a ‘HUGO Home’ in our county.’’

Another priority, Hulings said, is spurring interest in contributions for Project ALS Research.

‘‘It would be just great if every person in the United States would donate $1 to the HUGO Fund for research, and if every person in Chautauqua County would give the same amount, we’d have about $140,000 as a starter.’’

Some time ago, Hulings programmed the DynaVox, and through use of an infra-red connection, and an ‘‘educated chin,’’ he has become a ‘‘computer whiz,’’ said Jennifer.

‘‘The programming took a long time,’’ Hulings said. ‘‘I lost track after 5,000 hours.’’

With that task finished, Hulings plans to become a Web master, and to update the HUGO Web page.

Meanwhile, he cherishes his latest memento — a special commemorative bat presented to him by Yankees owner George Steinbrenner.

‘‘There’s only one other like it,’’ Hulings said, ‘‘and, Steinbrenner has that one.’’

Hulings will never swing or even lift that bat. But, he’s hoping for a winning season this year — in terms of ALS donations to The HUGO Fund.

NEW YORK (Reuters Health) - Compared to years past, people who come down with Lou Gehrig disease nowadays seem to have slower disease progression and to live long. Nonetheless, amyotrophic lateral sclerosis or ALS, as the disease is known formally, is still always fatal, ultimately.

Baylor University researchers, reporting in the Archives of Neurology, have not found any specific factor to account for the improvements in recent years.

Dr. Adam Czaplinski and colleagues in Houston, Texas analyzed survival time and disease progression in two groups: 647 patients diagnosed with ALS between 1984 and 1999, and 394 patients diagnosed between 1999 and 2004.

The average survival after symptom onset was 3.22 years for patients in the first group compared with 4.32 years for patients in the more recent group.

Time to "a clinically evident change in a patient's clinical status and ability to perform activities of daily living" was 10 months in the current era compared with 9 months in ALS patients treated in earlier years.

The researchers observe that the improvement in outcome could not be attributed to any particular ALS-specific treatment, but they say they cannot rule out an effect of concurrent illnesses, "which could have influenced medical treatment and survival."

The researchers conclude that that there are other possible interpretations of the findings, including the possibility that there has been "a fundamental change in the natural history of the disease."

Dodd Introduces Measure to Ensure Coverage for Individuals with Terminal Illnesses
August 11, 2006

Washington- Senator Chris Dodd (D-CT) has introduced legislation in the Senate that would amend the Social Security Act (SSA) to ensure that individuals suffering from certain terminal diseases are entitled to receive social security disability benefits. Under current law, an individual who contracts a covered terminal illness, and who has not been part of the workforce for a period of time, may not qualify for social security disability benefits they would otherwise be entitled to.

“This bill is really about ensuring fairness. We should reward people who contribute to the social security system, not punish them,” Dodd said. “Under the current system hardworking Americans are being denied benefits at a time when they need them most,” Dodd said.

The Claire Collier Social Security Disability Insurance Fairness Act would amend the SSA to provide that the eligibility standard for disability insurance benefits not be applicable in the case of a disabled individual suffering from a covered terminal illness. Currently, the SSA mandates that a person earn 20 quarters of Social Security earnings during the 10 years preceding a disability to collect benefits. This discriminates against people who have earned the required number of credits outside of the time period prescribed.

This bill is named after Claire Collier, a Stamford mother of three, who was diagnosed with amyotrophic lateral sclerosis (ALS) in 2003. Sen. Dodd became aware of this issue after meeting with Ms. Collier in Washington

BILL TEXT
S 3839
VERSION: INTRODUCED IN SENATE
Aug. 3, 2006

109th CONGRESS

2d Session

S. 3839

To amend title II of the Social Security Act to provide that the eligibility requirement for disability insurance benefits under which an individual must have 20 quarters of Social Security coverage in the 40 quarters preceding a disability shall not be applicable in the case of a disabled individual suffering from a covered terminal disease.

IN THE SENATE OF THE UNITED STATES

AUGUST 3, 2006

Mr. DODD introduced the following bill; which was read twice and referred to the Committee on Finance

A BILL

To amend title II of the Social Security Act to provide that the eligibility requirement for disability insurance benefits under which an individual must have 20 quarters of Social Security coverage in the 40 quarters preceding a disability shall not be applicable in the case of a disabled individual suffering from a covered terminal disease.

Be it enacted by the Senate and House of Representatives of the United States of America in Congress assembled,

SECTION 1. SHORT TITLE.

This Act may be cited as the “Claire Collier Social Security Disability Insurance Fairness Act”.

SEC. 2. EXCEPTION FROM 20/40 REQUIREMENT FOR DISABILITY INSURANCE BENEFITS FOR INDIVIDUALS SUFFERING FROM A COVERED TERMINAL DISEASE.

(a) Exception From Recent Work Requirement.—

(1) IN GENERAL.—Section 223(c)(1) of the Social Security Act (42 U.S.C. 423(c)(1)) is amended in the flush matter following subparagraph (B)(iii) by inserting “or suffering from a covered terminal disease” after “216(i)(1))”.

(2) CONFORMING AMENDMENT.—Section 216(i)(3) of such Act (42 U.S.C. 416(i)(3)) is amended in the flush matter following subparagraph (B)(iii) by inserting “or suffering from a covered terminal disease” after “paragraph (1))”.

(b) Definition of Covered Terminal Disease.—Not later than 60 days after the date of enactment of this Act, the Commissioner of Social Security shall issue a proposed rule defining the term “covered terminal disease” for purposes of sections 216(i)(3) and 223(c)(1) of the Social Security Act (as amended by subsection (a)) that shall include (but not be limited to) those diseases that are incurable, progressive, and terminal, including neurodegenerative and neurological diseases that are likely to cause death within a 5-year period of onset.

(c) Interim Final and Final Rules.—

(1) INTERIM FINAL RULE.—Not later than 90 days after the date of enactment of this Act, the Commissioner of Social Security shall issue an interim final rule defining the term “covered terminal disease” in accordance with the requirements of subsection (b) and shall provide for a period of public comments on such rule.

(2) FINAL RULE.—Not later than 6 months after the date of enactment of this Act, the Commissioner of Social Security shall issue a final rule defining the term “covered terminal disease” in accordance with the requirements of subsection (b) and consideration of any public comments received during the period required under paragraph (1).

(d) Effective Date.—The amendments made by subsection (a) shall take effect on the date of enactment of this Act and shall apply to any applications for disability insurance benefits under title II of the Social Security Act that are pending or filed on or after that date.

Source: Government Printing Office
From CQ Bill Text Service
Providing government documents on demand, in context.
© 2006 Congressional Quarterly Inc. All Rights Reserved.
______________________________

Packard scientist Don Cleveland and his colleagues at the University of California, San Diego, reported details this week of a promising therapy-aimed study in ALS animal models that essentially shuts off action of offending genes.

The article describing the research appears in the August issue of the Journal of Clinical Investigation.

"Our work suggests that this technique can be an effective, regulatable way to treat types of ALS and other neurodegenerative diseases where we know the causative gene and the protein it produces," Cleveland says.

The study, in conjunction with researchers at California's Isis Pharmaceuticals, used therapeutic molecules called antisense oligonucleotides delivered to the brain and spinal cord of disease-bound rats, as well as healthy controls, via a tiny pump implanted beneath the skin.

Carried in the cerebrospinal fluid that bathes the central nervous system, the specially tailored oligonucleotides were designed to block effects of the mutant SOD1 gene that causes roughly 20 percent of inherited ALS.

Diffusing into brain and spinal cord tissues usually harmed by the disease, the antisense oligonucleotides attached to the very molecules that carry out the mutant gene's bidding, making them vulnerable to destructive enzymes. In test cultures of cells, antisense lowered mutant SOD1 protein - the gene's byproduct - to 20 percent of what’s typical.

And in the ALS model rats given antisense oligonucleotides a month before symptoms of disease typically appear, the effect could be seen as a 37 percent increase in the animals' survival. It slowed the rate of the insidious advance of paralysis.

"Antisense had no effect on the illness’s onset in the animals," Cleveland says. They still developed symptoms. And some mutant SOD1 protein still accumulated, even as high as 5 percent of protein in the brain. "But even with that, remarkably, there was dramatic slowing of the disease’s progress."

Much of the study was dedicated simply to proving the principle that antisense oligonucleotides, given this way, can squelch protein production. So Cleveland's team showed that was the case in healthy rats and also in the healthy Rhesus monkeys they tested. Animals apparently suffer no ill effects from being without some, most, or even all normal SOD1 protein, Cleveland says.

One arm of the research also depleted a protein thought responsible for much of disease progression in Alzheimer's disease. So it shows the potential of antisense therapy for a number of neurodegenerative illnesses, including Parkinson's and Huntington's disease.

As for its use in humans, nothing, so far, discourages continued research. "Safety of local and systemically given oligonucleotides is well established," Cleveland adds. More than 500 human subjects in other studies have had exposure to oligonucleotides similar to those used in this one.

"Our results support infusing antisense oligonucleotides as a treatment for familial ALS, especially for patients with the SOD1-A4V mutation which accounts for about 50 percent of SOD1 mutations in this country and which has an unusually rapid disease course after onset," says Cleveland.

If the formal safety studies underway in animals and the planned Phase I trials, to be carried out with Packard Center Clinicians, in human familial ALS patients support it - both, admittedly clear hurdles for a new technique - antisense could have genuine impact on the disease.

Richard Smith, of the Center for Neurologic Study, La Jolla, CA., and Tim Miller, a colleague of Cleveland's at UCSD, were also co-investigators in the study.

Cleveland is a consultant at Isis Pharmaceuticals Inc., which will manufacture the agent used in clinical trials.

Experiments in rats suggest it is possible to slow down amyotrophic lateral sclerosis using an antisense approach to therapy.

Amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease) is a progressive disease of the nervous system which causes paralysis and death within a few years of diagnosis. It affects around 30,000 Americans and there is no effective treatment. Now a team at the University of California, San Diego, report on results of a trial in animals involving antisense oligonucleotides. These are molecules which can turn off a gene for a mutant protein which otherwise kills neurons in ALS.

In this new study, the researchers delivered the antisense molecules to the brain and spinal cords of rats through the cerebrospinal fluid and found the course of ALS to be slowed down. They hope this means that ALS could be managed as a chronic disease in humans. Their plan is to insert a small pump into the patient with ALS using a procedure already approved for the management of pain. Then a small catheter would be implanted into the area around the spinal cord so that the antisense drug could be pumped through. They also believe that this kind of antisense approach could work for other neurodegenerative diseases like Alzheimer's, Parkinson's and Huntington's diseases.

Source
Journal of Clinical Investigation early-advance 27th July 2006 (print, August)

One cold December afternoon in 2004, Scott and Tammy Brown’s daughter Lauren came home from school worried, confused and full of questions.

“Some of our friends had found out, and their daughter is one of Lauren’s good friends. So, the little girl was on the bus and told Lauren, ‘Your mom is dying.’” Tammy, 34, says, nervously shifting in her wheelchair and glancing at her husband. “It wasn’t something we were prepared to tell yet. They (Lauren and son Logan) know, but it just happened.”

Of course, Lauren, then 8, wanted answers that day and the Browns responded in turn – “Sissy, your mother has ALS and that is why she’s had trouble walking, it’s not anyone’s fault, everything is going to be all right.” But what Lauren didn’t ask (and what the Browns themselves had yet to realize) was how much the family would spend on Tammy’s medical care during the next two years. The cost of sick today, they would learn, is astronomical.

———

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects the motor neurons reaching from the brain to the spinal cord and to the body’s muscle systems. The ALS Association says about 5,600 people are diagnosed with the disease each year in the U.S. and as many as 30,000 Americans are living with ALS at any given time.

Early symptoms include muscle weakness or stiffness; patients may find themselves tripping on carpet or stairs and unable to lift objects they had previously with ease. As the illness progresses, muscles in the arms, legs and shoulders as well as those that control speaking, swallowing and breathing atrophy (waste away) and become paralyzed. In most cases, mental facilities aren’t affected, even in totally immobilized patients, according to the ALS Association.

After diagnosis, Tammy quickly lost the use of her extremities and her independence. Muscle tissue in her shoulders and legs has atrophied to the point where daily tasks are almost impossible, and the disease may be progressing more quickly than the family first thought.

“Right now I am able to stand with help, but I can’t take a step or lift my feet by myself. I have no grip; my hands have gotten to where even holding a glass or cup is hard,” Tammy says, pointing out indentions in her shoulders and back where the muscle has clearly atrophied.

“I gag on toothpaste of all things,” Tammy says with a laugh. “And I cough a little after I eat. My doctor said that may be an indication that it (ALS) is spreading to my mouth or throat.”

The life expectancy of an ALS patient averages two to five years after diagnosis. However, a few have survived for 20 years or more, and an even smaller number has seen the disease’s progression stop or reverse. While ALS’s biological and environmental risk factors are unclear, in the 1990s researchers isolated a mutated gene on the 21st chromosome that appears to be one cause of hereditary ALS. Genetic testing for the disorder is available. Data also suggest a link between the disease and military service. ALS has no cure; one drug, Rilutek, is proven to increase the quality and length of a patient’s life.

ALS is not contagious, but the number of cases has grown in the last 20 years. It is not clear, however, if the increase is related to an actual higher incidence or greater awareness and diagnosis among health care professionals.

While some patients live for decades after diagnosis, ALS is still considered a terminal illness. Unfortunately for the Browns, it is also a financially and emotionally expensive one to fight, and fight is exactly what the family has decided to do.

———

What follows is a partial list of expenses for the Brown family (December 2004 to present).

2004 Ford Conversion Van = $54,000;

Wheelchair lift for van = $5,000;

Rilutek = $1,000 a month;

Bathroom remodeling = $10,000 (so far);

Access ramp for front door = $400;

Doctor visits = $200 per visit;

Vitamins and other medications = $100 a month;

Miscellaneous expenses = $1,500 to $2,500;

Total = $120,000.

It is important to note that many of the items the Browns use were donated from the Muscular Dystrophy Association and several other charitable groups. Some local businesses such as Terminix and Wal-Mart also helped the family by donating items and volunteering services. Since the family’s monthly income is more than $1,500, it is not eligible for most state aid.

In the near future, the family will need to make two large purchases. Tammy’s wheelchair, on loan from the MDA, will not accommodate her illness much longer. A new chair will cost $17,000, $5,000 of which her insurance (for the time being Tammy is employed by Wal-Mart) will cover with another $2,000 coming from the MDA. The family will need to pay at least $10,000 out of pocket.

The Browns would also like to install a ceiling track lift in their home, so Scott will not have to lift Tammy as much during the day. The machine will use a sling to carry Tammy from room to room and will cost $4,000.

“If anybody out there is like us, you spend so much money and you are broke and there is nothing left,” Tammy said. “Some of these organizations will help with a wheelchair and things, but when it comes to lifts or other equipment there’s nothing. It’s just one more thing we need but can’t afford.”

Sadly, the Browns’ story is typical. Rising health care costs, shifts in governmental funding and a lack of charitable assistance leaves many families battling ALS to their own devices.

Linda Gilbert, patient services coordinator for the ALSA of West Tennessee, says insurance companies, employers, governments and even physicians have a lot to learn about ALS.

“Insurance is not about comfort,” she told the Guard. “They (the companies) will only purchase equipment which they see as necessary. We all don’t realize what patients need to live a quality life.”

Equipment such as lifts and vehicles used to transport patients to doctor appointments are not usually covered by Medicare or private insurance.

Gilbert said patients in states without ALSA chapters (like Arkansas) face larger problems. Physician awareness and availability of treatment options differ from state to state. Many patients see several doctors before one makes the correct diagnosis.

“Mostly, we offer support. Not just financial support, but emotional as well,” Gilbert said about the role of ALSA chapters.

Current legislation, for which Tammy has lobbied, calls for, among other things, the establishment of a national register of ALS patients for research purposes and fewer restrictions on state medical aid.

Tammy has also been instrumental in the forthcoming establishment of an ALS chapter in Arkansas.

———

Tammy and Scott worked hard to get the life they wanted — loving marriage, healthy children, nice home, fulfilling careers — but everything changed with Tammy’s diagnosis.

“You never think about stuff like this when you’re growing up or having kids. You think, ‘I’ve got the rest of my life to do whatever.’ Life’s too short; you figure that out when something happens,” Tammy told the Guard, explaining her and Scott’s focus has shifted and the disease has brought them closer.

“What people don’t realize is this isn’t an individual disease. It affects me, the kids, my family, her family, everyone. We all have it,” Scott added.

Born in Rockford, Ill., a young Tammy and family moved near Thida in 1983. She attended school first at Oil Trough and then, after consolidation, at Newark. Tammy began working at Wal-Mart while still in high school. A dedicated employee who was not afraid to tackle big projects, she advanced quickly in the company, managing several stores across the country.

“I loved it, just loved it,” Tammy said, adding she was the definition of “career woman.”

Tammy did love her work, at times, putting it ahead of everything, even her family.

“I became a district manager and I was on the road a lot, doing special projects here and there,” Tammy said. “One night, I got a call from my son asking if I could visit him like I did the Wal-Mart stores. That was hard.”

After that, Tammy decided to move back home and co-manage the Batesville Wal-Mart. She considered the move just a stepping stone to bigger things. Actually, her goal for this year was to become a regional manager for the company’s automotive or photo lab division. But the disease has changed that too.

“Our new bathroom is being built in space we had intended for my home office,” Tammy said.

As devastating as the disease is, the Browns are keeping their faith and trying to live as normal a life as possible. Still, thoughts of the future are difficult to hold.

“I put on a good front for a lot of people, but when you are actually looking down into it, it’s hard to deal with,” Tammy said. “I used to be the most independent person you’ll ever meet, but I am unable to walk, dress myself at times even. I am not independent. Sometimes you feel like a real burden.

“This disease is just awful. I am in the middle of my life here, I am not able to plan for my future. The doctors tell you, you don’t have a future, and that hurts so much. ... I am not at the point where I can’t tell my kids I love them or my husband how much he means to me, but that could change,” she added.

Two young investigators are joining the field of ALS research under The ALS Association’s innovative program funded by The Milton Safenowitz Post-Doctoral Fellowship for ALS Research. This grant program recognizes and recruits gifted young scientists to the study of ALS.

One grant is to study a way to understand the dynamics within the long fibers of nerve cells, called the axons, as well as the process of orchestrated removal of damaged cells, called apoptosis, and will be investigated by Jinseo Rhee, Ph.D., who is working with Louis Reichardt, Ph.D., of the University of California, San Francisco, and the Howard Hughes Medical Institute. Rhee will investigate the function of a protein, abbreviated as p190RhoGEF, involved in the formation of new nerve cells during development.

This protein is at work in the process of apoptosis that prunes the developing nervous system to maintain and refine the proper network of nerve cells. Also, it helps in production of the structural proteins called neurofilaments that maintain the long fibers of motor neurons throughout life. Mice that specifically lack the gene coding for production of p190RhoGEF in their motor neurons might show disrupted neurofilaments. Such mice could serve as a useful model of the disease process of ALS.

In the battle against ALS, repairing the damage with stem cell therapies is one of many promising treatment strategies. Pursuing this line of investigation, Monica Carrasco, Ph.D., has also been selected for The Milton Safenowitz Post-Doctoral Fellowship for ALS Research. Together with mentor Tom Maniatis, Ph.D., and collaborating experts in stem cell and motor neuron biology at Harvard in Cambridge, Mass., and elsewhere, Carrasco will establish lab cultures of stem cells derived from normal and SOD1 mutant mice. Studies to observe which genes are active or silent, and the electrical properties of the resulting cells, should provide insight into what characteristics of the motor neurons cause or reflect the disease state.

Following this mouse project, the investigators also plan to use available human embryonic stem cells that will be manipulated to contain the nucleus of cells taken from ALS patients. The latter technique, called nuclear transfer, will produce human motor neurons that can live in lab dishes. These cells should reflect whatever characteristics are present in ALS patients who provided the genetic material. This lab system should yield living human motor neurons that exhibit aspects of ALS not yet available for study.

These young investigators recruited to the study of ALS should produce useful new insights into the disease with suggestions for workable therapeutic interventions.

San Diego researchers have demonstrated in animals a new approach toward treating amyotrophic lateral sclerosis, suggesting that the deadly nervous system disease may someday be treated as a chronic but manageable illness.

Their method slowed the progression of the disease, also known as ALS or Lou Gehrig's disease, in rats. The findings are described in the August issue of the Journal of Clinical Investigation.

The scientists hope to begin clinical trials with humans next year.

“This is a very hopeful development, and . . . a lot of people who have thought about it think it will work,” said Dr. Richard A. Smith, who co-authored the study and treats ALS patients at the Center for Neurologic Study in La Jolla.

Using synthetic fragments of DNA called antisense oligonucleotides, Smith and his colleagues suppressed a defective gene in the rats called SOD1 that causes ALS.

The gene is implicated in only about 2 percent of all ALS cases. But scientists said they were particularly excited by how the synthetic DNA successfully spread throughout the rats' nervous system to several brain regions affected by other diseases.

The key was to inject the synthetic DNA directly into the brain or administer it with a pump into the spinal column, where it was circulated by a fluid that bathes both.

As a result, the DNA fragments reached parts of the brain damaged by ALS as well as Alzheimer's, Parkinson's and Huntington's diseases.

“We didn't know that before – that we could deliver effective doses to all the major brain regions,” said Don Cleveland, whose lab at the University of California San Diego conducted the study. He worked with Smith and fellow UCSD researcher Timothy Miller.

The synthetic DNA inhibited both the healthy and defective forms of SOD1, but the scientists did not detect any adverse reaction in the rodents they tested, Cleveland said.

Whether the treatment will work in humans is another matter.

“Will administration of this class of compounds into humans really be safe?” Cleveland asked. “You never know that without an initial clinical trial.”

Isis Pharmaceuticals Inc. in Carlsbad provided the synthetic DNA for the study, and the firm is expected to manufacture it for clinical trials. Cleveland and Smith, who also is a researcher at The Scripps Research Institute in La Jolla, are consultants for the company.

The ALS Association, based in Calabasas Hills, paid for the study.

Amyotrophic lateral sclerosis afflicts about 20,000 Americans, and about 5,000 more are diagnosed annually, according to the National Institute of Neurological Disorders and Stroke.

The disease typically strikes people 40 to 60 years old, killing nerve cells called motor neurons, which control voluntary muscles. It progresses rapidly, robbing patients of their ability to move their arms, legs and other parts of the body.

Eventually, it causes the patient to stop breathing. Most ALS patients die within five years after onset of the disease.

TORONTO (CP) - Biotech company Amorfix Life Sciences Ltd. (TSXV:AMF), whose shares were halted on TSX Venture Exchange pending news, said Thursday it has struck a research and investment agreement with U.S.-based Biogen Idec.

The Toronto company said the deal with Biogen (Nasdaq:BIIB) of Cambridge, Mass., includes an option to license the exclusive worldwide rights to Amorfix's technology to develop and commercialize therapeutic treatments for Amyotrophic Lateral Sclerosis, a neurodegenerative condition also known as Lou Gehrig's Disease.

Under the deal, Biogen Idec will spend $375,000 US to buy 289,187 Amorfix common shares at $1.46 each, taking a minority stake in the Canadian company.

The U.S. company has options to buy more shares, while Amorfix would get upfront payments, royalties and other benefits from the licensing agreement, Amorfix said.

If the option is exercised, Biogen Idec would be responsible for completing preclinical and clinical development, regulatory approvals, manufacturing and commercialization of any new drugs.

"To ensure a rapid translation of our technology to clinical trials, we chose to partner with a world-leading biotechnology company that will bring significant resources and expertise in the preclinical and clinical validation of Amorfix's approach to treatments for neurodegenerative diseases," said Neil Cashman, chief scientific officer of Amorfix.

Amorfix is focused on the diagnosis and treatment of neurodegenerative diseases such as mad cow disease and the human form, variant Creutzfeldt-Jakob Disease. The company also researches treatments for other degenerative conditions such as Alzheimer's and Parkinson's diseases.

It started out as a slight shaking of the legs. Nothing to take note of really, just an inconvenience.

Slowly, though, it got worse and more noticeable. Doctors could not place it, and after a year of searching for cures, Edison-born Patrick O'Brien finally got the diagnosis. It was amyotrophic lateral sclerosis, more popularly known as Lou Gehrig's disease. At 30, O'Brien was given two to five years to live.

Now, a year after the diagnosis, the filmmaker from New Jersey is taking his story to the streets. Yesterday, O'Brien began a five-day, cross-state journey in his motorized wheelchair, starting in Washington Crossing State Park in Pennsylvania and ending Sunday in Asbury Park.

He and his crew often will travel back roads talking to local people about ALS to raise awareness for the disease, which, as O'Brien explains on his foundation's Web site (www.patrickobrienfoundation.org), is a degenerative nerve disease.

"As motor neurons are destroyed, a person with ALS loses his or her ability to walk, speak, swallow and breathe," O'Brien writes. It is incurable and, in about 65 percent of cases, fatal within five years.

O'Brien is still vivacious and funny, but videos on the Web site show how his body has betrayed him.

"In the morning I am helped out of bed," O'Brien said. "I am fed breakfast. ... Around dusk I go for a ride through the woods."

O'Brien also fills his days with work. He is busy coordinating the film he is working on, a documentary about his life with ALS that will span two years and include this week's ride.

Because of the toll the disease has taken on his body, he does most of his work, as he did this interview, via e-mail. Though he lives in Silver Spring, Md., with his sister and her family, O'Brien said New Jersey was a natural choice for his ride, because the state is what originally inspired his filmmaking.

"Even though I was born in New Jersey, I had spent most of the first half of my life away from the Garden State," he explained. So when he returned to New Jersey in 1991, "I rediscovered the state. ... Suddenly there were all these crazy characters, all these amazing old buildings, the slang, the rust, smokestacks, girls with giant hairdos. All of this and more totally impressed me and possessed me as a new artist."

He started photographing and filming all the things that moved him. O'Brien went on to study directing at the School of Visual Arts in New York, and has made several award-winning films, but his favorite was "Super Model Meat Sports," a short video of two bikini-clad models dancing with various meat products, which the FUSE network has broadcast nationally.

Now, it is the simple things that ALS has helped him focus on. "What this illness has taught me is ... how beautiful the world is after all, how much good people have in them, to not focus on things I cannot change, to appreciate what I do have ... to live in the now, not the past or the future, and not to waste energy on things which aren't important."

On days when he feels like it's all too much, when he hasn't gotten enough sleep, "what works to calm down is to look out the back door, appreciate nature, live in the present."

His sister, Maraesa Guevara-Beck, also helps bring him back. She "is the hero. She washes me, feeds me, shaves me, dresses me, puts up with my moods (and) handles day-to-day foundation logistics."

O'Brien started the foundation as a way to reach others and raise awareness for ALS, which is responsible for more deaths each year than Huntington's disease or multiple sclerosis.

"The idea of helping others now and in the future in my same situation really appealed to me," he explained. "The film we are making will in no way be like any film ever made about having an illness like ALS," he said proudly.

"I believe once the film is finished it will be a fresh look at a world many people have never seen. ... Once the film is done, my goals in life are to be at peace, to see things clearly ... and where possible continue fighting for a cure."

Funded projects by The ALS Association for fall 2006 will hasten progress toward effective therapies for ALS. The projects promise key advances in understanding of the biology of the disease and sew together common threads into a more complete picture of the roles of axonal damage, surrounding cells in the nervous system, and how stem cell or trophic factor therapies might succeed. An emphasis is on new genetic information that will reveal potential targets at which to aim drug candidates.

Funding of a total of $1.8 million will support eight investigators just entering the field of ALS research, with starter grants of a year’s duration, and ten grants that go to multi-year efforts to move forward in the search for effective treatment of what is still, inevitably, a fatal disorder.

Genetics of ALS

Casper Hoogenraad, Ph.D., and Dick Jaarsma, Ph.D., of Erasmus Medical College, Rotterdam, The Netherlands, propose to create a mutant mouse to study a form of ALS with mutation in a gene called VAP-B (vesicle associated membrane protein associated protein B). Scientists are not yet sure what this protein does, but the mutation likely changes the protein’s shape. Creating a mouse with the mutation should produce signs of motor neuron disease and by comparison with other mouse models of ALS could suggest approaches toward a treatment.

Vincenzo Bonifati, M.D., Ph.D., and Ben Oostra, Ph.D., of Erasmus Medical College, Rotterdam, The Netherlands, are working with cases of ALS found in a small Dutch village and are attempting to find the responsible gene change for the presumably inherited condition there. Providing a new genetic reason for ALS should help therapeutic approaches for all forms of the disease.

Axon Dynamics and ALS

Miriam Meisler, Ph.D, of the University of Michigan, Ann Arbor, has found a mutation in one of the proteins that helps keep crucial cellular supplies flowing properly within the long fiber of nerve cells. The mutation is present in a mouse with a motor neuron defect called the wobbler mouse. She proposes to study the function of the normal protein made by the gene, called VPS54, in mice and to see if people with ALS might also have mutations in this protein. One ALS patient has already been found with this gene change.

The mutation in the wobbler mouse is also under investigation by Thomas Schmitt-John, Ph.D., at Aarhus University in Denmark, who will search for gene changes in sporadic ALS patients that could affect vesicles, the sacks within cells that move materials about while protecting them from powerful enzymes present inside cells. Gene changes affecting vesicles might explain at least some instances of ALS and provide a new target for design of therapeutics.

Minh Dang Nguyen, Ph.D., of the University of Calgary in Alberta, Canada, has discovered a new protein that helps keep neurons intact. Through a partnership with The ALS Society of Canada, his group will seek a role for this protein, called Ndel1, in the health of motor neurons—the Ndel1 protein apparently interacts with other proteins that are known to support growth and maintenance for the long fibers of neurons. If implicated in ALS, the Ndel1 protein could prove to be a useful target for ALS therapeutics.

Cell Targets of ALS Disease

Professor Kay Davies, D.Phil., of the University of Oxford, U.K., and colleagues propose ALS might involve the special cells that form an insulating sheath around nerve fibers. In ALS, damage appears first at the junction of nerve and muscle rather than at the cell body, so the so- called Schwann cells that make insulating myelin of nerves might be involved. The researchers will generate mice that make the mutant protein, copper-zinc superoxide dismutase (SOD1), only in the myelin forming Schwann cells. The mutated SOD1 presumably would affect the course of disease if its action in the Schwann cells is critical in ALS.

Karl Kasischke, M.D., and Maiken Nedergaard, M.D., Ph.D., at the University of Rochester, New York, are collaborating to develop a new way to see into the brain of lab rodents in order to follow changes that reflect motor neuron disease. The researchers will work back toward the beginning of the disease process in order to see how the damage is initiated and how the neurons and neighboring support cells of the nervous system might interact to produce damage to the motor neurons. Their technique, called multiphoton imaging, involves microscopic sized lenses that are small enough to enable this approach in living animals.

Microglia, the immune cells of the brain and spinal cord, play a role in ALS, but the reasons are not yet clear. Michael Carroll, Ph.D., of the CBR Institute for Biomedical Research in Boston, studies how microglia play a part in the inflammatory response to low tissue oxygen and other stress. His lab group will work with the microglia from mice that have the mutation linked to some inherited forms of ALS. They will also introduce this SOD1 mutation into normal microglia. A comparison in lab dishes of the behavior of normal microglia with those collected at various time points in the disease might reveal key differences that contribute to the disease process.

Biomarkers

Gerry Shaw, Ph.D., and David Borchelt, Ph.D., of the University of Florida, Gainesville, find that a particular protein of the nerve fibers shows up in the blood in rats that have damaged nerves, so it might serve as a potential marker of nerve injury. Indeed this marker appears to be present in the SOD1 mutant rodents that show many aspects of ALS. The investigators will look at the time course of the appearance of this molecule, a part of the scaffold inside nerve fibers called phosphorylated heavy neurofilament (pNF-H), in rats. They will see if this protein is present in blood samples from ALS patients with SOD1 mutation and those who have the mutation but are not having any symptoms of ALS.

Diagnostic imaging is a promise yet unmet for ALS. Jonathan Katz, M.D., and Michael Weiner, M.D., of the Forbes Norris MDA/ALS Research Center and the VA Medical Center, respectively, in San Francisco, propose to follow ALS patients with two imaging studies timed six months apart to see if they can document changes in the brain that correlate to changes in cognition. With magnetic resonance imaging (MRI) using a powerful magnetic field, they hope to pinpoint areas of the brain that reflect such changes and could serve as a biomarker of ALS.

Sanjay Kalra, M.D., and his collaborators at the University of Alberta in Edmonton, Canada, also intends to document brain changes with ALS with partnership funding with The ALS Society of Canada. An MRI approach can see changes in the brain’s chemical messengers, glutamate and GABA (gamma amino butyric acid). They propose that measuring this chemistry of the brain in specific areas governing the cognitive changes in ALS could serve as a marker of disease progress and potentially gauge therapeutic effects.

Disease Process of ALS

Cognitive Changes

The finding that ALS affects cognition in many instances leads neurologists Michael Strong, M.D., at the Robarts Research Institute in London, Ontario, Canada, and P. Nigel Leigh, M.D., Ph.D., at the Institute of Psychiatry, King’s College, London, U.K.,   to propose a thorough investigation into brains donated for research to document differences in ALS. These donated brains are unique in that the ALS patients were followed clinically for cognitive change. These researchers on both sides of the Atlantic will look for altered brain cell counts and changed proteins such as tau and ubiquitin that are suspect in ALS.

Environmental Factors –Toxins

A third partnering grant with The ALS Society of Canada will support Christopher A. Shaw, Ph.D., University of British Columbia, Vancouver, Canada, and colleagues who are seeking any role for potentially toxic compounds found in cycad seeds that have been proposed as linked with the type of ALS found on the island of Guam. They will see whether these compounds, or their byproducts after metabolism, are present in higher levels in the blood of ALS patients. They will test for toxic effects of different amounts of the so-called sterol glucosides found in the seeds and see if they can block any toxicity with available drugs.

Proteomics of SOD1 Mutation

Jonathan D. Glass, M.D., of Emory University in Atlanta, is investigating which of the myriad proteins in the neuron are affected during ALS by monitoring the entire set of proteins produced in spinal cord cells of the mouse model of ALS, the SOD1 mutant. They will carry out a preliminary investigation using state of the art mass spectroscopy to find any proteins that change in amount specifically during disease onset and progression. Such changes could produce therapeutic leads.

Apoptosis and the Mitochondria

Piera Pasinelli, Ph.D., and Davide Trotti, Ph.D., have found that the mutant SOD1 protein binds to another protein, called Bcl-2, which plays a role in cell death. This is the normally orchestrated removal of old or unneeded cells called apoptosis. They will see how the mutant protein, SOD1, linked with some inherited forms of ALS, interacts with the Bcl-2 protein.

A new funding opportunity through The ALS Association is provided by The Alan L. Phillips Discovery Grant Award, made possible through support from Morton and Malvina Charlestein, with the first award going to Robert Burgess, Ph.D., at The Jackson Laboratory, Bar Harbor, Maine. Burgess will engineer mice to make the SOD1 mutant protein with a tag that brings the damaged protein specifically to the mitochondria. This will directly test if the toxic site of mutant SOD1 action is indeed the mitochondria. This idea would be supported if the mice making mutant SOD1 at the mitochondria develop motor neuron disease earlier.

Glutamate

Wim Robberecht, M.D., Ph.D., and colleagues at the Flanders Interuniversity in Antwerp, and at University Hospital Gasthuisberg in Leuven, Belgium, are studying how motor neurons deal with the possibly toxic excess of glutamate and how this can contribute to ALS. They have found that the surrounding glial cells called astrocytes can regulate how motor neurons handle glutamate. The helping molecule called VEGF (vascular endothelial growth factor) also appears to influence glutamate balance. Both processes may act at the same part of the receptor for glutamate (abbreviated as GluR2). The researchers seek to explain how the GluR2 molecule may mediate many aspects of the biology of the disease process in ALS and how therapeutic efforts directed there might best succeed.

Stem Cell Therapies

Xue-Jun Li, Ph.D., of the Waisman Center at the University of Wisconsin in Madison, will seek to generate motor neurons of the brain from embryonic stem cells. The use of mouse cells to study how motor neurons might be generated, and survive for effecting repairs, will provide insights into possible therapies for ALS and will allow for screening of new drug candidates. This project is now possible due to the ability to generate spinal motor neurons from stem cells and new information about how cortical motor neurons are formed in the developing brain; much of this progress funded through support by The ALS Association. Further progress will no doubt follow from this round of funding.