‘Freedom to Live Life to the Fullest’

by Christina Medvescek

Congress Passes Trial Homebound Reform Bill

David Jayne

It took three years and the fight isn’t quite over yet, but a significant victory has been realized in the battle for reform of Medicare’s homebound restriction.

Included in the Medicare prescription drug bill passed last month was an amendment granting more freedom to a limited number of people with severe disabilities who receive home health care services through Medicare. Now, people receiving this benefit must remain in their homes — "homebound" — or risk losing their services.

"As President Bush signed the Medicare prescription drug bill, it was a great relief knowing that in six months 15,000 people would be given the freedom to live life to the fullest," said David Jayne, the Georgia man with ALS who spearheaded the reform drive three years ago. Jayne was in the audience for the signing of the bill on Dec. 8 in Washington.

The homebound reform amendment creates a two-year, three-state demonstration (trial) project to gauge whether easing homebound restrictions will increase Medicare costs. The Department of Health and Human Services (HHS) will file a report by June 2007, and more lenient homebound rules for all beneficiaries may follow. The three trial states will be selected from the Eastern, Midwestern and Western regions.

Currently, homebound care recipients may leave home only briefly and infrequently, for approved reasons such a doctor’s appointment or church service. Leaving for an unapproved reason may result in termination of home health services, as Jayne discovered in 2000 when his services were cut because friends took him to a college football game.

The trial project will affect up to 15,000 people with severe and permanent disabilities who require help with three out of five activities of daily living, and who aren’t able to leave home without help from technology or another person.

A Three-Year Journey

Jayne has had ALS for 15 years. He can’t speak or breathe on his own and has movement in only two fingers. After losing his home health benefits, then regaining them with the help of press coverage, Jayne began lobbying for regulations that reflect the reality of modern life for people with severe disabilities. In 2001 he founded the National Coalition to Amend the Medicare Homebound Restriction for Americans with Significant Illness (NCAHB) (www.amendhomeboundpolicy.homestead.com).

Rep. Edward Markey (D-Mass.) and Sen. Susan Collins (R-Maine) led the homebound reform fight in Congress. Markey, who called the Medicare drug bill "a giant legislative turkey," nonetheless was key in getting the homebound amendment attached to it.

Jayne expressed gratitude to MDA for its support for the effort.

"I started a ripple that grew into a successful national campaign," Jayne said. "That should inspire every individual who believes they cannot make a difference."

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ALS Research Roundup

Stem Cells Help Regrow Nerves in Rats

A team led by physician-investigator Ahmet Höke in the Department of Neurology of the Johns Hopkins Hospital in Baltimore has announced that severed nerves in rats were coaxed to repair themselves and attach to other nerves with the help of transplanted stem cells taken from mice.

Electrical activity and signal transmission to the foot were restored, the researchers announced at October’s Meeting of the American Neurological Association in San Francisco.

Höke said he believes the stem cells, taken from mouse brains and kept alive in the lab for about two years, helped the rat nerves repair themselves in part because they secreted glial-derived neurotrophic factor.

Some of the stem cells secreted more GDNF than others, Höke said, adding that "the cells with extra GDNF did it a little better."

He said, "The finding implies that, even for patients with chronic denervation [loss of nerve cells or fibers], such as people with ALS or inherited peripheral neuropathies, regeneration is possible."

Spinal Fluid Changes Appear Specific to ALS

At the annual meeting of the International Alliance of ALS/MND Associations in Milan, Italy, in November, Robert Bowser of the University of Pittsburgh presented the finding of specific abnormalities in the fluid surrounding the brain and spinal cord (cerebrospinal fluid, or CSF) in ALS patients.

Cellular and molecular pathologist Bowser worked with a team from Massachusetts General Hospital in Boston that included neurologist Merit Cudkowicz, an MDA research grantee.

The identification of a "panel" of abnormalities in the CSF that appears to be specific to ALS bodes well for both early diagnosis of the disease and better evaluation of experimental treatments in clinical trials.

The study compared 25 people with ALS and 35 people without ALS. Bowser said more people would have to be tested to see how the differences hold up. The protein abnormalities need to be studied over time to track changes during disease progression, he said.

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Double the Determination

by Kathy Wechsler

Dennis, Lyndsay, Amber and Sue Robinson

Sue and Dennis Robinson of Pacific, Mo., are faced with more than their fair share of challenges, but the love and support of their family and friends is getting them through the rough times.

"Live with gratitude for the blessings that you do have because regardless of where you are, things could be worse," said Sue, 58, who received a diagnosis of ALS in 2002 and uses an electric wheelchair for mobility.

Six months before his wife’s diagnosis, Dennis, 53, was found to have Parkinson’s disease. He teaches chemistry at Eureka High School, where he serves as chairman of the Science Department.

TEAMWORK

Friends, students and members of the Robinsons’ church are always willing to lend a hand and assist with running errands, cooking, housecleaning, yard work and making the house more accessible. They even stay with Sue during the day, allowing Dennis to continue working.

MDA has provided financial assistance with several pieces of medical equipment. The Robinsons, who recently celebrated their 25th anniversary, are active in fund-raisers for the Association whenever possible.

Dennis also encouraged his students to help MDA. At one football game, MDA received half of the $2,000 in ticket sales.

Teachers from Eureka High School plan to participate in an MDA Lock-Up, in which they’ll be "arrested" and have to raise money for MDA in order to get out of "jail."

LIFE AT THE ROBINSON HOUSE

Dennis hasn’t yet noticed a significant progression in his disorder, except for some increased stiffness that slows him down. Fortunately, medication has kept the disease fairly well under control.

"I think that with all the other things going on with the ALS, that has been much more of an influence, and it’s kind of hard to read how the Parkinson’s has come into effect," Dennis said.

Having two progressive neurological diseases in the family has been quite an adjustment for the Robinsons, who have two daughters, ages 17 and 10. Time and schedule limitations, accessibility, and other day-to-day medical and mobility challenges can’t be overlooked.

The Robinsons also face the difficult realization that they may not be able to do everything they’d like to do with their children. The girls, Amber and Lyndsay, have adapted well to their current situation, the parents said.

UNSTOPPABLE

Sue recently checked into the hospital to have a feeding tube inserted. Since transportation was a major issue, she decided to undergo a tracheostomy while she was there.

No longer able to play piano and organ for her church as she did for more than 50 years, Sue received a precious gift from her fellow choir members, when they dedicated a music program to her.

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St. Louis Center Director Optimistic

Has Personal Experience With ALS

by Margaret Wahl

Neurologist Alan Pestronk examines a slide made from a muscle biopsy sample. Photos by Tim Parker

Neurologist Alan Pestronk heads the MDA/ALS Center at Barnes-Jewish Hospital in St. Louis, where he also directs the general MDA clinic. He’s a professor of neurology and pathology at Washington University School of Medicine, and directs its Neuromuscular Clinical Laboratory.

Pestronk earned his medical degree from Johns Hopkins University in Baltimore in 1970 and undertook postgraduate training in neuromuscular disease at Johns Hopkins. He later became an associate professor in the Hopkins Department of Neurology.

He served on the MDA Medical Advisory Committee from 1996 to 2002. Some of Pestronk’s special interests are ALS, the immunological aspects of neuromuscular disease, aging and the nervous system, and the history of neurology.

Ironically, Pestronk’s first wife, Ilene Edison, succumbed to ALS in 1994.

Q: What interests you about ALS?

A: ALS is an important part of the practice of the neuromuscular disease specialist because it’s such a serious problem, and the patients are so needy. It’s also a challenge because it’s perhaps the biggest mystery in neuromuscular disease.

Q: What do you think causes ALS?

A: I don’t know. But I will say that things are much more exciting now in this field compared to how they were 10 years ago. There are lots of ideas.

Q: Has the SOD1 mutant mouse model [a mouse carrying a mutation that causes ALS in some 2 percent of patients] helped us a great deal in finding the cause or causes of ALS?

A: The SOD1 model is probably a good one for ALS, but some experts have inferred more from it than they really should. I’m not sure that prolonging the life of this mouse by a few days is relevant to the human disease. If we could find something that would increase strength in these mice, that might be a better clue.

It’s important not to put all your eggs in one basket, and that’s what you’re doing if you only work on the SOD1 mouse model. There are other models, such as cultured cells and in vitro [in lab dishes] models of the spinal cord that can be useful.

If you’re looking for the effects of a drug, for example, it’s good to look at them in more than one system. Then you can push the drugs that are effective in several systems to the top of the list for human testing.

Q: What recent finding would you say is most important to the future of ALS research?

A: I think it might be the recent finding that abnormal, or mutated, SOD1 may be causing ALS by damaging cells that aren’t motor neurons (the nerve cells that control muscle activity). (See "Motor Neuron Neighbors Help Fight ALS," November 2003.)

That’s not something most people would ever have thought, and, if it proves true, it would make treatment more feasible. For instance, you might be able to put a treatment into the spinal fluid surrounding the nerve cells. It’s easier to get at something that’s operating outside the motor neurons rather than inside them.

Q: What do you see as the best pathway for research in ALS?

A: We have to learn more about the mechanisms by which you can damage motor neurons and save motor neurons. We’re learning more and more.

For example, we recently had the chromosome 16 finding. (See "New ALS Gene Mapped to Chromosome 16," September 2003.) There are four families with an ALS-like syndrome and changes on chromosome 16. What will that tell us? The hope is that, when we find several genes that can cause ALS, we can see what they have in common. That would be important for sporadic and hereditary ALS.

It seems likely that there are multiple genetic mutations that can lead to a similar disease. This is a similar phenomenon to what we found with congenital myasthenic syndromes, where there are many genetic mutations at the neuromuscular junction that can lead to weakness, or certain muscular dystrophies that resemble the Duchenne type, where mutations in genes for various muscle membrane proteins produce a similar disease.

These have taught us the biology of the neuromuscular junction and of the muscle cell membrane, and suggested multiple pathways for intervention.

Q: What do you think about drug trials in ALS?

A: I think that if someone has the idea that a drug might work, they should test it in mice and maybe in some other models of ALS. That’s logical. For drugs that are already available, it’s still important to test them in the lab to see if they’re worth trying. Otherwise, people will spend time and money and perhaps only get side effects.

Q: You have some personal experience with ALS, beyond taking care of your center patients, don’t you?

A: Yes. My first wife, Ilene Edison, had ALS, and she died of it in 1994 at the age of 60. When she was in her 50s, she came home one day after being with one of the grandchildren and said she was having trouble climbing the stairs. That’s a dreaded thing for a neuromuscular disease specialist to hear.

Later, we did all the testing, including a muscle biopsy, to make the diagnosis.

If I hadn’t appreciated the help provided to ALS patients at a center like ours before, this brought the situation home. I learned more than anything else that there’s a need for physicians to help deal with the whole situation in a realistic manner.

You have to get to the respiratory, mobility, communication and nutritional problems early. You need to get the motorized wheelchair and modify your home before you need those things. In our case, when we got the chair, it was impossible for Ilene to go anywhere in the house except two rooms. We needed ramps and an elevator. Our center staff helped to identify our needs and the resources for equipment and aid.

My wife didn’t want respiratory care or anything invasive, but this was 10 years ago, before the advent of ventilation becoming portable. She died of respiratory failure 11 months after her diagnosis was made.

Q: What’s your philosophy as director of the MDA/ALS Center?

A: When I first came here in 1989, I already had learned a lot of lessons about how to take care of patients who have diseases with no cure. Physicians are only a small portion of that care. It takes many people for patients to function as best they can and for them to be comfortable.

Physical therapist Jeanine Schierbecker tests the strength of ALS patient Glen Houston, who’s in a clinical trial at Washington University.

The underlying principle of our center is to be helpful in all areas of the patient’s world, to help the patient and the caregiver and the rest of the family. That means we deal with a lot of practical issues, information and sources for things ALS patients need.

We’re very lucky here to have a wonderful team of people, including specialists in physical and occupational therapy, social work, nutrition, communication, orthotics [braces and supports] and wheelchairs, as well as other physicians, such as a consulting pulmonologist.

Our MDA staff, including Debbie King, the MDA ALS health care service coordinator, and Ann Grossmann, the general MDA health care service coordinator, provide the backbone of the support system for families through MDA and through organizations that provide respite care and hospice care.

Q: What do you see that’s different about the ALS field now compared to a decade or two ago?

A: Fifteen years ago, we had no idea where to start to treat ALS. Now, we’re slowly learning things. That’s how you figure out what’s wrong. There are competing explanations, but at least we have lots of ideas about where to start.

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ALS Expenses Can Be Tax Deductible

As you prepare your 2003 income tax return, be sure to investigate all medical deductions that may be available to you "thanks to" ALS.

Medical Deductions

You may deduct unreimbursed medical expenses exceeding 7.5 percent of your adjusted gross income, so long as they relate to the "diagnosis, cure, mitigation, treatment or prevention of disease." This includes medical insurance premiums, home modifications, and the cost of getting to and from medical and therapy appointments.

Providing you meet Internal Revenue Service requirements and have proper documentation from a physician, the following expenses also may be deducted:

• The extra cost of electricity and/or batteries for lifts, wheelchairs and ventilators, and maintenance costs for these items

• The extra cost of a wheelchair-accessible vehicle over a standard vehicle

• Transportation and admission to conferences about ALS

• Impairment-related work expenses, such as an attendant to help you transfer in the bathroom; these expenses aren’t subject to the normal employee business expense limit of 2 percent of adjusted gross income

• In-home attendant care costs, when the care is provided so the primary caregiver can work or look for a job

• Expenses for an acupuncturist or Christian Science practitioner

• Nonprescription supplements recommended by a doctor for ALS

Be Prepared

The IRS has specific and strict requirements for medical deductions, so do your homework. Make sure you have a physician’s prescription that specifies the deducted expense is to mitigate the effects of ALS, not just for general health.

Don’t assume professional tax preparers are aware of all deductions available to you; carefully outline your situation for them. Check out the IRS Web site at www.irs.gov for guidelines and tax forms. Or contact your local IRS Taxpayer Assistance Center or call (800) 829-1040.

The March-April issue of MDA’s Quest magazine will include a more comprehensive story about tax deductions and credits that may benefit people with neuromuscular diseases.

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STUDIES SHOW . . .

Part 4 in a series

QUESTIONS, COMMON SENSE HELP DISSECT STUDY FINDINGS

by Margaret Wahl

The October, November and December issues of the newsletter included columns on interpreting scientific study results. Here are some take-home messages from that series to consider when reading a news report about a scientific finding.

Was there a control group?

Control groups are the best way to keep extraneous factors from influencing a finding. If you want to know whether ventilation prolongs life in ALS, you have to be sure all study participants have the same general characteristics with respect to stage of disease, medications and other factors. The only variable should be the ventilation they receive.

Were study participants randomly assigned to a group?

When all participants in a study have the same disease, they must each have an equal chance of being assigned to the placebo (sham medication) group or a treatment group (taking the medication being tested). If any factors influenced the group assignment, results could be biased. For instance, if healthier patients got the experimental drug and sicker ones the placebo, it could make the drug look more effective than it really is.

If you see an apparent disease cluster, is there a proposed causative factor that can be tested?

Disease clusters are often identified because they cry out for attention. But they aren’t necessarily meaningful.

People who live or work near each other may develop the same disease by chance. To test whether the cluster is a chance occurrence or not, researchers must pose a hypothesis about the cause of the disease that can be tested in multiple environments.

Are the results significant?

The test of whether a result is meaningful or not rests on whether it’s "statistically significant." If the probability of seeing the obtained result if chance alone were operating is greater than 5 percent, the finding is considered "not significant."

Results that fail to reach significance can sometimes prompt researchers to change the way their studies are conducted. They may need a larger or longer study, or they may need to address a previously overlooked variable that influenced the results.

Does it make sense?

Common sense should prevail when reading about a study.

If three or four people say they benefited from a particular herbal supplement or electrical stimulation device, the finding probably doesn’t mean much. If hundreds of people say they benefited, it might mean something.

Of course, it’s always a good idea to consider the source of any information. A company that sells supplements or muscle stimulators is rarely objective about them. Even if satisfied customers are recruited to spread the word about a product, you can rest assured that they were selected from among customers who may have been less enthusiastic.

MDA thanks biomedical statistician David Schoenfeld of Massachusetts General Hospital in Boston for co-authoring the series. A feature on media coverage of science and medical news is scheduled for the March-April issue of Quest, MDA’s bimonthly magazine.

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ALS Online

A regular schedule of peer-led chats involving topics of interest to families affected by ALS will continue on MDA’s Web site in 2004. They are:

PALS with Children — for parents with ALS, every other Wednesday 9-10 p.m. (all times are Eastern)

Living with ALS — for people with ALS and caregivers, every Monday 4-6 p.m.

Spouse-Caregiver Chat—for spouses and caregivers of people with any neuromuscular disease, every Monday 3:30-4:30 p.m.

Positive Thinking — every Thursday 8-9 p.m.

Watch www.mda.org/chat/calendar.html for announcements of new chats being added, including special, expert-led chats on medical and research topics.

This spring, look for a chat with the staff of The MDA/ALS Newsletter and one on how MDA reports on science and medicine.

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