TRAVELS WITH LOU
My First Trip

The experience of every person with ALS is different; every person with ALS is the same. Every account of the experience of ALS is worth telling; everyone affected by ALS will find some truth in the story. This is the first in a series of occasional articles chronicling one man’s journey with ALS. Sam Goldstein and his wife, Jo-Ann, have graciously agreed to share their experience of living with the disease.

by Sam Goldstein

I’m a 58-year-old retired truck parts dealer in St. Louis. I was a three- to four-times-a-week racquetball player, part-time classical musician, and full-time husband, father and grandfather.

After over two years of ignoring symptoms and eight months of seeing an internist, neurosurgeon, chiropractor and two neurologists; dozens of blood tests, MRIs, CAT scans, brain scans, muscle and nerve biopsies, and finally an EMG, I heard the words that would change my world, and everyone’s around me: “You’ve got ALS.”

Those words effectively ended my life as I knew it and started me on a new journey filled with fear, anger, anticipation, frustration, hope, dashed hopes and discovery.

The First Step

My symptoms began on the racquetball court with not being able to take “that first step” to the ball. I passed this off as an aftereffect of a recent knee replacement surgery. From there other symptoms arose, and I began falling fairly regularly. In late 2004 I spoke with my internist, a longtime friend, who sent me to my first neurologist.

Cooking is still possible with the aid of some support.

Various doctors were convinced that I had a vitamin B-12 shortage, nerve impingement in my spine, neuropathy, myopathy or perhaps heavy metal poisoning. It was my impression at the time that they had ruled out all of the “bad things” — Parkinson’s, MD, MS, ALS, etc.

After bringing my blood chemistry back in line and monitoring physical therapies followed by deterioration rather than improvement, my latest neurologist ordered muscle and nerve biopsies and an EMG. On Aug. 18, 2005, at approximately 11 a.m., I heard my fate in three letters — ALS.

My first words were, “What did I do to my children? Will they get it? Will my grandchildren? What have I done to my wife? Will she have to care for an invalid the rest of my life?”

Confirmation

We were told it took two doctors to confirm the diagnosis, and we were referred to the MDA/ALS Center at Washington University. It was while doing research on the upcoming visit and the disease itself that Jo-Ann discovered the Muscular Dystrophy Association and Debbie King (a health care service coordinator for MDA in St. Louis).

We learned about MDA’s support groups and weekly online chats as well as the loan closet. MDA also helped us make some wonderful friends.

When I was deepest in my despair, the Association and King became wellsprings of comfort, information, physical help, assistance with needed equipment and general all-around sources of guidance and support. My diagnosis was confirmed with another EMG, and the roller coaster of my future life took off.

Uncertainties

Because of lack of coordination in my left foot, followed by weakness in my left leg and arm, I began using a cane daily. I still wasn’t convinced that there was anything seriously wrong with me. I knew I could work it out, just as I had rehabbed from eight injury-induced knee surgeries. The harder I worked, though, the worse it got.

After five months of using a cane, I had to switch to a walker, with an occasional wheelchair ride for long distances. I still have my car keys, but getting to and from the car is becoming harder and harder.

Sam Goldstein playing with the St. Louis Wind Symphony

I still regularly play my French horn with professional and semiprofessional groups, but have given up my responsibilities as section leader and soloist as they require a more definite time commitment than I can now make. My conductors have made it clear that it’ll be my decision to stop playing and not theirs.

Dealing with the uncertainty of the disease progression itself has been one of the most frustrating things in my life. After my wife and I told our children and immediate family, there of course arose question after question. I had but few answers, like everybody else. I’ve run the gamut of fear, anger, depression, worry, anticipation, curiosity — and even thankfulness for all the people that I have met through my adversity.

All my life I have seen myself as the provider for and protector of my family and friends. Now I need the tables turned, and I have had to learn how to say, “Please help me,” instead of “What can I do for you?” This may be the hardest adjustment of this whole ongoing process.

Through services available, I’ve received inestimable help from weekly counseling sessions and MDA’s monthly support group meetings. These meetings, along with the unconditional love and support of my wife and children, are helping me get through this nightmare. I am learning to prioritize the most important things in my life, which have boiled down to the time spent with my family — my wife of 35 years, Jo-Ann; daughter, Alison, 30; son, Ben, 28, and his wife, Taryn; grandsons, David, 2, and Aiden, 9 months. I intend to make every moment I spend with my family the most golden of my memories.

Sam Goldstein can be contacted at fhornsam@charter.net.

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ALS RESEARCH ROUNDUP

by Margaret Wahl

Wobbler Mouse Gene ID May Unlock New Doors

A mutation in a gene for the vps54 protein, which acts as a cellular traffic manager, leads to the abnormal gait and reduced strength that characterize a much-studied mouse with a neurologic disease, says a U.S., Danish and German research team.

The mouse, known as wobbler, was first identified at the University of Edinburgh (Scotland) in 1956. Before ALS mouse models based on mutated SOD1 genes were developed in the mid-1990s, the wobbler was a popular method of simulating an ALS environment in which to test treatments.

For the last decade, SOD1 mutant mice have held center stage in ALS research, but not everyone is convinced they’re the only, or the best, models for all forms of ALS. (Only about 2 percent of people with ALS have mutations in an SOD1 gene.)

Thomas Schmitt-John at the University of Aarhus in Denmark and colleagues, who published their gene identification in the November issue of Nature Genetics, say they’ll now develop mice missing vps54 and study its disruption in cells in lab dishes.

“I think that the SOD1 mice are surely good animal models for the familial ALS cases associated with SOD1,” Schmitt-John said. “But ALS is a disease with a variety of molecular causes, and the precise mechanism leading to the death of the neurons [nerve cells] might differ dramatically [in each]. So I think that more animal models are required.”

Walter Bradley, who directs the Kessenich Family MDA/ALS Center at the University of Miami, and Hiroshi Mitsumoto, who co-directs the Eleanor and Lou Gehrig MDA/ALS Research Center at Columbia University in New York, have worked with the wobbler mouse intermittently for several decades.

Bradley, who says the wobbler mouse shows evidence of impaired transport along its motor neuron axons (long fibers), has speculated that vps54 is involved in loading material onto a transport system. It’s one of several vesicular protein sorters that assign compounds to bubbles, or vesicles, for shipment to other parts of the cell.

Substances can move from one cell compartment to another via vesicles that bud off from one compartment, move along a cellular conveyor belt called a microtubule, and then fuse with another compartment.

The vps54 (red) protein may assign compounds to vesicles for shipment via the cellular conveyor belts known as microtubules. Researchers believe spectrin protein molecules (green) are part of an apparatus that attaches the vesicles to these conveyor belts. Errors in this transport system may be a factor in ALS.

Schmitt-John says the vps54 finding indicates to him that “vesicle trafficking should be considered as a critical factor in ALS pathology.”

Neurodegeneration Appears Tied to Molecular Motor Breakdowns

Findings from a multinational group coordinated by biologist Laura Ranum at the University of Minnesota in Minneapolis add support for the involvement of cellular transport defects in the degeneration of nerve cells.

Ranum, who has had MDA funding for research in myotonic dystrophy, has been studying a disease called spinocerebellar ataxia type 5 (SCA5), a neurodegenerative condition linked to chromosome 11. ALS is also a neurodegenerative disease.

Her group has now identified mutations in the gene for the beta-3 spectrin protein in three large families as the cause of their SCA5. An American, a French and a German family were each found to have a different spectrin mutation.

Spectrin proteins are part of the cellular transport apparatus recently implicated as a problem in the wobbler mouse (see "Wobbler Mouse Gene ID May Unlock New Doors").

A spectrin molecule, along with several others, forms a multiprotein molecular motor that attaches transport vesicles and their cargo to the microtubules, and moves them along these highways to other cell compartments.

“We’re thrilled to have found this gene,” Ranum said. “I think that there could be broader implications, for ALS and other neurodegenerative disorders,” she added, citing known deficits in transport that occur in Huntington’s and Alzheimer’s diseases.

Arimoclomol Trial Opens

An 80-person trial of the experimental compound arimoclomol in ALS is now open at 10 U.S. medical centers, under the auspices of CytRx (www.cytrx.com), a Los Angeles biotechnology company.

Arimoclomol increases production of molecular chaperones, proteins that help cells survive under stress. Chaperones direct how a protein is folded after it’s synthesized from genetic instructions. Misfolded proteins can cause abnormal protein clumping, a phenomenon that may play a role in ALS.

Merit Cudkowicz, an MDA research grantee at Massachusetts General Hospital in Boston, and Jeremy Shefner, director of the MDA/ALS Center at SUNY Upstate Medical University in Syracuse, N.Y., are the principal investigators for this study. Some participants will receive arimoclomol, and some will take a look-alike placebo.

For details and contact information, see www.clinicaltrials.gov; enter “arimoclomol” into the search box.

Creatine Fails Again

Creatine, a natural compound that participates in energy generation in cells, has again failed to show that it has any benefit in slowing the course of ALS.

In a study involving 107 patients at several centers, the compound failed to affect strength, fatigue or pulmonary function, according to Jeffrey Rosenfeld, director of the MDA/ALS Center at Carolinas Medical Center in Charlotte, N.C., who headed the study team. A similar multicenter study failed to show benefit from creatine in ALS when results were released in 2003.

Rosenfeld says he wants to test higher doses or other forms of creatine.

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PBA Symptoms No Laughing Matter

by Christina Medvescek

Guests were touched when Ken James burst out crying at his surprise birthday party — but grew concerned as he kept crying and crying. “I boo-hooed loud and for the longest time,” says James, 66, via e-mail from Marshville, N.C. “I couldn’t help it. Surprises aren’t for ALS patients. [Wife] Deloris explained that crying just went with ALS.”

Uncontrolled crying and laughing, at random or out of proportion to the situation, are the hallmarks of pseudobulbar affect (PBA), a symptom that affects 15 percent to 45 percent of people with ALS, especially those with bulbar onset. PBA also occurs in multiple sclerosis, Alzheimer’s and Parkinson’s diseases, brain injury and stroke.

A new drug, Neurodex, is in the pipeline to treat this frustrating symptom, and may be available to patients by the end of 2006. San Diego-based Avanir Pharmaceuticals submitted a new drug application to the U.S. Food and Drug Administration on Jan. 27, and the FDA may rule as early as mid-summer.

What Is PBA?

Although the reason is uncertain, PBA seems to be related to degeneration of motor neuron pathways from the upper brain to the lower (bulbar) brain (perhaps the cerebro-ponto-cerebellar pathway). These pathways, which normally modulate emotional expression to fit the situation, can become “disconnected” as ALS progresses, creating out-of-context emotional outbursts. The term pseudo (false) refers to the fact that the problem isn’t in the bulbar neurons themselves, but in their loss of connection to neurons elsewhere in the brain.

Recent research indicates the problem doesn’t arise from dysfunction in the brain’s prefrontal cortex.

Debi Faubion (left), news anchor at WSOC-TV in Charlotte, N.C., Deloris James and Ken James at an event honoring Ken called Nine Who Care.

To distinguish PBA from depression or other causes, doctors may administer a questionnaire rating episode frequency, duration, voluntary control and appropriateness to context and inner feelings.

What Sets It Off?

“It can be a TV program or even a ball game that triggers it,” says James. “Anything that excites me or is sad usually gets a response.”

Other triggers include stressful situations, trying to answer difficult questions, discussions with any emotional context, and sometimes, just thinking. However, people usually don’t feel extremely emotional during a PBA episode.

James’ episodes are short, sometimes just a few seconds long. He laughs more than cries, “which is a plus, because it makes people think I’m happy but in reality both feel the same to me. Crying upsets people more.”

Treating Symptoms

“PBA has a profound effect, depending on its frequency, on both patient and family. It can lead the patient to withdraw from social situations, as they have little control over these events,” says David Simpson, director of MDA clinics at Michigan State University in East Lansing and the Michigan Institute for Neurological Disorders in Farmington Hills.

Simpson usually asks ALS patients if they’ve had any “emotional roller-coastering” and finds many are relieved to know they’re not “losing it.”

In some, antidepressants may reduce symptoms. The new drug candidate Neurodex (AVP-923) has proved safe and effective in clinical trials at reducing episode frequency and severity, without the side effects of antidepressants.

Neurodex contains the over-the-counter cough suppressant dextromethorphan (DM), which reduces certain neurotransmitter activity (glutamate excitotoxicity) in the brain, and quinidine sulfate, a well-established heart drug that inhibits the body’s rapid metabolism of DM, allowing it to linger in the brain.

In 2002, Avanir Pharmaceuticals announced positive results from a one-month trial involving people with ALS, in which Neurodex reduced symptoms better than either of its two ingredients alone. In a placebo-controlled trial of people with multiple sclerosis, Neurodex improved participants’ scores on an assessment of emotional lability (instability). Mild to moderate side effects were reported, the most common being nausea and dizziness. An open-label safety trial under way since March 2003 (now closed to ALS patients) has gathered sufficient data to satisfy FDA requirements for a new drug application.

James participated in a Neurodex trial through his MDA/ALS Center at Carolinas Medical Center in Charlotte, N.C., and found it didn’t stop his episodes, but helped some. It also reduced his drooling, a common problem for people with ALS, so he asked for and was granted permission to continue taking the drug once the trial was complete.

Gaining Control

Besides medication, simply learning more about PBA makes it more manageable, says Amy Young, a social worker at the MDA/ALS Center at Carolinas Medical Center.

“On follow-up visits, families will say, ‘Mom’s gotten the giggles several times lately, and we so enjoy those moments now, we all just laugh along with her.”

It can help to ignore the behavior and change the subject to something more “emotionally benign,” says Susan Woolley Levine, a neuropsychologist at the Forbes Norris MDA/ALS Center in San Francisco. “Of course, this isn’t what most people intuitively do, which is to hand over the tissues and say comforting things,” she says. Unfortunately, this can prolong episodes.

Taking a break and returning to a subject later may help. Some recommend concentrating on breathing patterns — focusing on breathing in for uncontrolled laughing and breathing out for crying.

“Just let them happen,” advises James. “Don’t let PBA or ALS control your life. Get out often. No need to try to explain PBA to everyone. Just say this goes with ALS.”

For more information on Neurodex, visit www.avanir.com.

MDA Opens 36th ALS Center Brent Beson The MDA ALS Division has designated the Integris Southwest Medical Center in Oklahoma City as the site of its 36th MDA/ALS center. MDA/ALS centers focus on service and research, and offer the latest therapies using a team approach for people with ALS. The director of the new center is Brent Beson, a neurologist and co-director of MDA’s neuromuscular clinic at Integris. A neuromuscular disease specialist, Beson has Charcot-Marie-Tooth disease, another disorder covered by MDA. A complete list of MDA/ALS centers and contact information is available at www.als-mda.org.

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Technically Speaking, It's a Good Time to Have ALS

by Diane Huberty

Before I was diagnosed with ALS in 1985, I’d already decided I would never want to live if living meant being paralyzed and on a ventilator.

As an intensive care nurse, I dealt daily with patients in that situation. Trying to read the lips of those who couldn’t speak, or worse, the eyes of those with facial paralysis, knowing they were desperate to communicate basic needs, was frustrating and heartbreaking. Making their lives physically and emotionally comfortable was difficult. Their days were spent staring at the same four walls and a television whose channel they couldn’t change.

I wondered how they could bear the endless hours. No jaunts down the hall, much less a wheelchair ride outside. Just getting them into a chair was an effort because they were tethered to a machine bigger than a dishwasher. I hoped that somehow their brains could shut down imagination and desire, restlessness and boredom.

When I learned that I faced all that because I had ALS, I was horrified. Yet today I’m a vent-dependent quadriplegic and quite a happy person! Even though there still isn’t a cure for ALS, there are advances “around” ALS that have prolonged and improved my quality of life. I don’t take any of these advances for granted because I’ve seen life with ALS without them.

Vents and Toilet Seats

Diane Huberty finds life with ALS more enjoyable, thanks to her computer and other technological advances.

In the late ’80s, a ventilator was developed that delivered air through a tightly fitted facemask rather than a hole in the throat. Little did I imagine that first CPAP (continuous positive airway pressure) would evolve into a BiPAP (bilevel positive airway pressure) machine that would keep me alive and breathing comfortably for six years until a ventilator was needed.

Neither did I envision what ventilators would be like. Today’s vent is the size of a laptop computer, making it portable far beyond the four walls of 1985. I can take a jaunt around the yard, a trek to the mall or a trip across the country.

Today there are Cough Assist machines, suction machines and power wheelchairs — and the changes go beyond medical technology:

Comfort has improved with customized wheelchair seating, memory foam mattresses, heated and padded toilet seats with spray bottom-washers, and warm air dryers!

Cell phones make family members reachable wherever they are. Emergency call buttons summon help if we’ve fallen and chairs with lift seats reduce the risk of falls.

And remote controls aren’t just for TVs anymore! Car doors, heaters, fans, gas fireplace logs, lights, window shades, doors — nearly everything can be put on a remote.

Can’t keep track of all the remotes? Get one programmable remote and teach it to do everything. Can’t handle those tiny buttons? Get a remote with oversize buttons. Can’t handle buttons at all? Get a light pressure switch and scanning device.

The simple invention of CDs has been a daily joy for me. When I could no longer turn book pages, I listened to books on tape — and dealt with hissing, snarling tapes and buttons I couldn’t push. CDs in remote-controlled, multidisc players mean accessible books and music.

The Ultimate Advance

For improvement in the quality of life for a person with ALS, nothing tops the computer. I’m entertained, informed and even productive thanks to my computer. It saves me from my worst fear: mind-numbing boredom and the need to shut down my brain to preserve my sanity.

Among other things, I use my computer to answer the phone; speak when my trach is cuffed and I can’t talk; play music, movies and games; maintain records for our neighborhood association; retouch photos; and design cards and T-shirts. I can’t wield a paintbrush or hammer, but I’ve planned projects from simple room rearranging to kitchen remodeling.

Even though there still isn’t a cure for ALS, there are advances... that have prolonged and improved my quality of life.

Thanks to the Internet, I read newspaper articles, research any topic, comparison shop, keep informed about ALS and communicate daily with others with ALS. And all of this is done with glorious, delicious independence.

I use Click-N-Type and Dasher, two on-screen keyboards, to type without using my keyboard, while Point-N-Click pushes the mouse buttons for me — and they’re all free programs.

As my ability to use the mouse deteriorates, I can substitute devices that track slight head or eye movements. The latest emerging technology is right out of science fiction. Soon, computers will be operated by thought!

Feeling Lucky

Obviously, all these tech gadgets aren’t free. Some are covered by insurance and Medicare and others aren’t.

For items I have to buy myself, I compare brands and prices on the Internet, wait for sales and look for used equipment locally and on eBay. And I save receipts for tax deductions!

MDA is another resource. Besides items from their loan closets, they help pay for big-ticket items such as wheelchairs and speech devices, reducing or even eliminating out-of-pocket/co-pay costs.

Having had 20 years to accumulate my “toys,” I’ve learned that their expense is far outweighed by the quality of life they give me and the help they give my caregivers. Every day I use things that weren’t available when I was diagnosed in 1985 — and every day I think how lucky I am to have ALS today instead of before technology contributed to advances “around” ALS.

Diane Huberty, of Fort Wayne, Ind., writes frequently about tips for living with ALS.

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The Bash for a Cure

by Alyssa Quintero

Augie and Lynne Nieto, co-chairs of MDA’s ALS Division, are set to host The Bash for Augie’s Quest to raise funds for MDA’s ALS Division. To be held March 22 at the Las Vegas Hilton, “the party that will make a difference” is expected to draw over 2,500 supporters.

Augie and Lynne Nieto

Seven-time Tour de France champion Lance Armstrong is scheduled to make a special appearance, and the Grammy-award-winning Doobie Brothers will perform.

The event will include both live and silent auctions, and items up for bid include a Trek bike autographed by Armstrong; one-on-one play with Magic Johnson and two game tickets for the Los Angeles Lakers; an Australian trip for two; other hotel and trip packages; a customized wine tour through the Napa Valley; and tickets to an Indianapolis 500 race.

“This is going to be a great big party, and we’re going to raise more money than last time to find a cure for ALS,” Augie Nieto, 48, said.

Shannon Shryne, MDA’s divisional field representative in Orange County, Calif., explained that the goal for the event is to raise $2.3 million. “We want this benefit to be the most successful MDA fund-raising event to date,” Shryne said.

Lynne Nieto’s parents, Jack and Kathy Bransford of Newport Beach, Calif., have pledged to match all funds raised up to $1 million, according to Shryne.

Leading the Way

After receiving his ALS diagnosis in March 2005, Nieto resolved to learn about the disease that has affected his upper-body strength and speech, as well as to raise money for ALS research.

As co-chairs of the ALS Division, the Nietos are determined “to help put a face on this disease and raise money for research in a fast-track format.”

Nieto also serves MDA as a national vice president.

In his campaign called Augie’s Quest, Nieto raised more than $1 million for MDA’s ALS Division at a September 2005 dinner and reception at which he received the fitness industry’s Lifetime Achievement Award presented by the International Health, Racquet & Sportsclub Association and the National Fitness Trade Show. The benefit raised the largest amount ever by an inaugural event of its kind.

Nieto is the co-founder and former president of Life Fitness Inc. He currently is chairman of the Octane Fitness Company.

The Nietos live in Corona del Mar, Calif., a Southern California seaside community, and they have four children.

For more information or to purchase tickets to the Bash visit www.augiesquest.org, or call MDA’s Orange County office at (714) 550-0161.

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Freedom or Discrimination?
High Court Rules on Assisted Suicide

The U.S. Supreme Court voted on Jan. 17 to uphold the Oregon Death with Dignity Act, the “physician-assisted suicide” law allowing doctors to prescribe drugs to help terminally ill patients end their lives.

In Gonzales v. Oregon, the court ruled that the federal government doesn’t have authority to interfere with Oregon’s regulation of physicians in this case.

Under the Oregon law, a physician may prescribe (but not administer) a lethal dose of prescription drugs to terminally ill patients if two doctors determine the patient has less than six months to live, has voluntarily decided to die and is competent to make health care decisions. Between 1997 and 2004, 325 Oregonians obtained lethal prescriptions and 208 used them, according to the New York Times.

The high court ruling clears the way for several other states considering assisted suicide laws. However, Congress could act to amend federal drug control laws or ban physician-assisted suicide outright.

Ten national disability rights groups filed amicus briefs with the court opposing the law. The National Council on Disability cited the “probability that any law, procedures and standards that can be imposed to regulate physician-assisted suicide will be misapplied to unnecessarily end the lives of people with disability.” NCD said it would oppose assisted suicide “until such time as our society provides a comprehensive, fully funded and operational system of assistive living services for people with disabilities.”

What are your thoughts on this issue? Send comments marked “Assisted Suicide” to the MDA/ALS Newsmagazine, 3300 E. Sunrise, Tucson, AZ 85718-3299 or publications@mdausa.org.

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