Happiness and a Trach: They Really Can Go Together

by Jack Orchard, Founder of Extra Hands for ALS
Copyright 2008 Extra Hands for ALS

More than 90% of people with ALS choose not to get a tracheostomy when they lose the ability to get enough oxygen unassisted. Put another way, they'd rather die than use a ventilator. Of course, this choice is a purely personal one which no other person can dictate. But I suspect at least some people opt out of getting a tracheostomy because they think that living with a trach sounds unbearable. While trach management certainly requires some effort and thought, I promise it can be reduced to no big deal. And I know so because I've had a trach for 16 months.

What Is a Tracheostomy?

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A tracheostomy is a surgical procedure in which an incision is made at the base of the neck, just below the larynx, and a tube inserted which can be attached to a ventilator. The tube, which many people call "a trach" (pronounced trake) is about 4 inches long and curved. When inserted, the upper end points forward protruding from the incision, and the lower end points downward inside the trachea, or windpipe. At the lower end around the outside of the trach tube, which is made of hard plastic, it has a small balloon that is inflated or a small spongy cuff. This serves several purposes. First, it holds the trach more or less steady in the trachea. Without it the tube might rub against the trachea which, like anything down there, would set off a coughing fit.

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The balloon or cuff eliminates this possibility because it is nearly impossible to feel. Second, the balloon or cuff closes off access to the trachea from the nose and mouth. This is important because if you tried to inflate the lungs with a ventilator but there was a free passage up to the nose and mouth, the air would escape upward and little or none would make it down where you need it, in the lungs. Third, the balloon or cuff prevents most saliva from dripping down into the lungs. Even people with full control of their throat muscles sometimes aspirate a little saliva or liquids or food particles. For people with ALS whose control of throat muscles is compromised, aspiration can lead to pneumonia very quickly. The trach greatly reduces this risk.

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On the outside of the trach there is a plate about an inch and a half wide that rests comfortably against the skin. It has small holes on either side through which are threaded the ends of a soft collar. The collar aids in keeping the trach still and reducing the risk of pressure sores around the trach incision. When in use, the trach also has a disposable plastic tube inserted in it, called an inner cannula. The inner cannula is replaced every day. This is important because any secretions, such as saliva, mucus, or phlegm, can dry and harden on the inside of the trach. If this builds up the trach can get clogged reducing airflow through it. Also, any secretions become possible nesting places for bacteria. Rather than having to replace the trach itself every day, using a cannula makes trach maintenance and hygiene simple and easy.

Trach Requirements
Mother Nature never planned on having an incision in the lower neck. Like any other cut she tries every minute of every day to heal it by sending blood and lymph to it. These fluids, as well as any saliva that slips past the balloon or cuff needs to be removed from the lungs before they cause pneumonia. This is the part of having a trach that's just no fun whatsoever. To remove fluids from the lungs you have to insert a long thin rubber catheter attached to a suction machine through the trach and down deep into the bronchial tubes and suck it all out. This process is not painful, more like ticklish. The problem is that a tickle deep in the bronchia sets off a coughing reflex. Your body will try to cough until the catheter is removed. Suctioning takes just a few seconds in each bronchial tube, so even if you're fully dependent on a ventilator, the suctioning process won't make you hungry for air.

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Proper suctioning technique takes a little practice, both for your caregiver who needs to learn how to do it quickly and effectively, and for you to identify where in your chest needs suctioning. That may sound strange, that you won't be able to tell where your lungs are congested, but at first it will be hard to place it. Before long you'll become an expert. A suction catheter is about a foot long made of flexible rubber. Its bottom end, the one that goes into the bronchia, has a curved tip to make it easy to guide down into the side you want. The other end has an air port, a little hole so the caregiver can manipulate the catheter's suctioning strength. You should always be on a ventilator when suctioning because your cough reflex may take several seconds to relax away. During those seconds you'll need air. Having the ventilator to help you calm the reflex is a big help.

When inserting the catheter the caregiver should leave the port open so the other end going into the bronchia doesn't stick to anything on the way in. You want the catheter to go as deep as possible. When it's in all the way, a point the caregiver can feel easily, it's suctioning time. The caregiver covers the air port with a thumb and pulls the catheter out slowly while twirling the catheter with the other hand. This makes the bottom end deep in the bronchia sweep around and pull out all the secretions. I usually suction my right and left sides at least twice to make sure we've gotten everything. This makes a big difference for my unassisted breathing. When I'm congested I struggle to get enough air, but when we clean out my lungs I can still breathe comfortably on my own.

Another very important aspect of suctioning is hygiene. While it's not necessary to maintain absolute sterility of the suction catheter, it's nonetheless important to keep it clean. Any foreign material introduced into the lungs can lead to an infection. Caregivers should wear protective surgical gloves at all times during suctioning. The catheter should never touch anything. Once you remove it from its sterile packaging you should not set it down on anything. Keep it held closely in a gloved hand. For me, suctioning usually starts my salivary glands going, so we swap out the catheter for a long, hard plastic tube called a yankeur that we sweep around my mouth. This takes a little practice, not clearing saliva from my mouth, but manipulating the yankeur while keeping the catheter from touching anything.

Another aspect of trach hygiene is keeping the trach itself clean. You should clean the incision and every surface you can reach every day. The skin around the incision will toughen with scar tissue, but at first it will be tender. Your caregiver should wet a cotton swab such as a Q-tip with wound cleanser, and then scrub all around the incision as well as inside the trach. Because you'll be replacing the inner cannula every day anyway, remove it during trach cleaning and swab inside the exposed trach. If you are ventilator dependent, you can skip this last step but it's important to keep your trach as clean as you can get it.

Deep vs. Shallow Suctioning
The method described above is for removing secretions deep in the bronchial tubes. However, sometimes the secretions you need to get are just below or even in the bottom of the trach. These tend to come from fluids trapped above the balloon or cuff. Neither a balloon nor a cuff will form a perfect seal in the trachea separating the lungs from the nose and mouth. Whatever secretions are resting on top of the seal will inevitably seep down. Those fluids tend to be quite thick so when they drip past the seal the in-and-out rush of air from your breathing will push some of them into the bottom of the trach. When this happens you'll feel a light vibration in your chest just like when your lungs need deep suctioning. But the difference will be that you'll feel that vibration high in the chest in the middle rather than deep down one side or the other. This situation calls for a shallow suction.

Shallow suctioning differs from deep suctioning in three respects. First, the caregiver is only going in the trach a few inches. Second, the caregiver will hold the catheter air port closed going in as well as pulling out. And third, the caregiver will twirl the catheter going in the trach. Both you and your caregiver will hear when the catheter tip catches the secretions. When you hear that, quickly twirl the catheter at exactly that spot to clear it from all around the inside of the trach and then pull the catheter out. In most cases requiring shallow suctioning, the secretions are inside the trach. As a result, the catheter doesn't need to touch the trachea or bronchial tubes, and you won't feel a thing, no tickle, nothing!

Balloon Inflation and Deflation
Because saliva, mucus, and phlegm can accumulate on top of the balloon, occasionally you'll feel like you need to swallow or clear your throat when it reaches the point where your trachea and esophagus separate. This can be annoying. No matter how much you try swallowing or clearing your throat it won't go away. My solution for this problem is one my pulmonologist cautioned me not to do, but the solution works well when done properly.

When I feel the accumulation of secretions on the balloon I have my caregiver deflate the balloon completely. The secretions ooze past the balloon, then we quickly reinflate and deep suction. My doctor advises against this because he says it's never a good idea to let anything get in the lungs. Strictly speaking he's absolutely right. But when you and your caregiver become experts at suctioning you can reduce the risk of pneumonia to zero in this situation. And you'll feel much more comfortable having removed the secretions trapped above the balloon.

When you deflate the balloon you'll feel a few things. First, the bottom end of the trach may touch the lining of the trachea. It will tickle which may set off your coughing reflex. Second, because you have removed the seal cutting off access to your nose and mouth, the air getting pushed into you from the ventilator will escape upwards. This means your lungs will get less than they're accustomed to getting, and as a result you may feel some shortness of breath. If you feel bad just reinflate the balloon, suction whatever oozed past it, and repeat until you feel you've cleared out the accumulation of secretions.

How Often Should I Suction?
As often as you need to. Having congested lungs feels uncomfortable, so get rid of it! In the days after I had a tracheostomy I asked one of the nurses in the pulmonary intensive care unit where I was staying about this. She said I would need suctioning every 15 minutes. WHAT?!?! I was shocked and saddened by that. Fortunately she was way off. I suction in the morning when I wake up, I take a pill (through my feeding tube) called robinol which dries up my salivary glands, and then I'm DONE FOR THE WHOLE DAY!!! That's right. All day. I spend my days in an office chair in my study, most of the time breathing on my own but sometimes using a ventilator, and most days I don't need suctioning until I get back in bed at night. The idea that I'd need suctioning every 15 minutes is not just wrong, it's ridiculous. You can get there too. It takes effective and thorough suctioning in the morning to clear out the lungs as completely as possible, and taking a pill to reduce my body's production of secretions.

Why does this work? It's a simple secret: Wet lungs get wetter, but dry lungs stay dry. If you don't remove all the secretions in the morning your body will attack what it perceives as a threat and send fluids into the lungs to fight off infection. Clearly, this magnifies your congestion. Wet lungs get wetter. However, if your suctioning technique is thorough you can get your lungs dry enough that there's no threat of infection, and consequently you'll stay dry for hours, even all day.

Another Trach Management Issue
Trachs get dirty. It's an inescapable truth. Because you just can't get your trach pristinely clean every day, it needs to be replaced regularly to avoid becoming a nesting ground for bacteria. Trachs with balloon cuffs, made by a company called Shiley, need replacement every month. Trachs with sponge cuffs, made by a company called Bivona, need replacement every 1-2 weeks. There's no question that trach replacement is the least pleasant aspect of living with a trach.

To replace a trach you need to be in bed using a ventilator regardless of your breathing capability. Your caregiver should roll up a towel until the roll is 3-4 inches in diameter. Place the roll under your upper back so your head arches back, not just a little but way back so your neck is fully exposed. This position opens your trachea significantly. Those who have taken classes on CPR will recognize this position as the necessary one to ensure the trachea is as open as possible. Next, your caregiver should remove the trach collar, remove the ventilator, and deflate the balloon completely. Then pull the trach out. I won't lie, this hurts. The incision is smaller than the diameter of the trach with the balloon around it even when deflated. Your skin will stretch more at first than later when it toughens with scar tissue. Pulling out the trach will make the incision bleed, but this is not the time for soaking it up with a gauze pad. The highest priority is getting the new trach in place. Your caregiver should push the new trach into the incision, inflate the balloon, insert a new inner cannula, place the ventilator on, secure the trach with a new collar, and then do a deep suction. Yes, it's a lot to do in a short period of time. The first time you do a trach replacement you should have your pulmonologist or a pulmonary nurse demonstrate and explain it. Like at suctioning, your caregiver will become an expert at trach replacement. It just takes practice.

Your Trach Doesn't Have to Dominate Your Life
Choosing to get a tracheostomy is a decision that takes considerable thought regardless of whether you think the requirements laid out in this article sound like a lot or a little. You'll need 24-hour care, not because you need someone working on you every minute, but because you may get secretions inside the inner cannula or congested lungs without much warning. I often have days when I don't need suctioning, deep or shallow, all day. It's taken me quite a while to build a top-notch team of caregivers and train them properly, and I had to experiment with many techniques to settle on those that work best for me. But I'm now absolutely certain I made the right choice undergoing a tracheostomy. Only you can decide what's right for yourself.

If you have questions, ask me whatever you want and I'll post your question and my response. If you disagree about anything in this article I'll also post your comments for all to see. Let's share our knowledge! Here's the forum editor's email: editor@extrahands.org

When the Doctor Becomes the Patient

As the founding director of the ALS Treatment and Research Center at UCSF, I knew something about what to expect when I was diagnosed with the fatal neurodegenerative disease

by Richard K. Olney, M.D.
Copyright 2008 The Journal of Life Sciences

Having made the diagnosis in more than 1,000 people during my career, I knew much of what it meant to receive the news and to live with the disease. Then I made the diagnosis of ALS one last time -- in myself -- before my neurologist confirmed it. What remained for me was to see how helpful the advice I had been giving my patients over the years would be to me and my family, and then to experience actually living with the disease.

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Cognitive Impairment Found Part of ALS Afflictions

By Judith Groch, MedPage Today Staff Writer
Reviewed by Zalman S. Agus, MD; Emeritus Professor at the University of Pennsylvania School of Medicine.

NEW YORK, March 13 - Nearly a third of patients with amyotrophic lateral sclerosis (ALS) in a small case-control study showed evidence of cognitive impairment or dementia, although survival was not affected by the mental deficits.

In a retrospective study of 40 consecutive ALS patients, 12 (30%) were diagnosed as cognitively impaired, including nine (23%) who met the neuropsychologic criteria for dementia, according a study in the March issue of the Archives of Neurology.

Controlling for ALS severity, the researchers found the 12 impaired or demented patients did not differ from the nondemented patients in overall survival, said Yaakov Stern, Ph.D., and colleagues of Columbia University here. Survival data for 38 of the 40 ALS patients found they lived an average of 3.4 years after testing (0.3-12.4 years).

The patients, who were evaluated at neurologists' offices in 1991 and 1992, underwent baseline neurologic and neuropsychologic exams and were checked for disease history, including site of onset (bulbar or limbs). They were matched by age, gender, and education with 80 controls without ALS, recruited from a memory disorders center from 1992 to 2003. Survival data for the ALS patients were obtained from public and medical records available in 2004.

There were no statistically significant differences between demented and nondemented ALS groups regarding demographics, family history, age, sex, education, emotional stability, site of onset, bulbar dysfunction, or ALS severity, the researchers said.

Previous studies had found a special susceptibility for dementia among patients with bulbar-onset ALS, but "our data do not support these findings," Dr. Stern said. Only one patient with dementia had bulbar-onset disease. Of the five other bulbar-onset cases, four were cognitively normal and one was mildly impaired.

Comparison of mean test performance of all the ALS patients (demented and nondemented) with that of the controls (who had memory issues) found similar performances in most areas of testing. As a group, patients with ALS performed better than the controls on the repetition test (p< 0.001) and several other measurements. However, the nondemented ALS patients outperformed the controls on several measures, including memory, executive function, and language, the researcher reported.

There was an association between increasing ALS severity and declining verbal fluency beyond what would be expected from motor difficulties related to speech muscles, the researchers said. Demented ALS patients also showed impairment in free recall, executive function, and naming, along with relative preservation of attention, psychomotor speed, and visuospatial function.

Cognitive impairment in ALS may appear along a continuum ranging from mild impairment to frontotemporal lobar dementia (FTLD), the investigators said. The cognitive pattern in this study--with loss of executive function and free recall--are consistent with FTLD.

Although ALS is a relentlessly progressive disorder of the upper and lower motor neurons, increasing recognition of cognitive impairment in these patients suggests that it is a multisystem neurodegenerative disorder, Dr. Stern said. Yet the prevalence of cognitive impairment in ALS is unknown, he noted, and estimates, which were once 2% to 5%, are now up to 35% and 52%.

In an accompanying editorial Michael Strong, M.D., of University Hospital in London, Ontario, wrote that although ALS was long considered to be a disorder of the motor system, the more recent observations of cognitive impairment or dementia herald a "new era in our understanding of the pathobiology of ALS," along with "considerable controversy regarding the biological basis of this aspect of the disease." Also, he said, it is not clear whether the finding of cognitive impairment is relevant for most ALS patients.

As the study has demonstrated, he wrote, there are a significant number of individuals affected with "dementia" (or an FTLD syndrome). He also pointed to several factors that may have led to under-representation of cases in the study.

"Patients were excluded in the presence of a family history of a neurodegenerative disease, which rightly or wrongly, given our current understanding of the genetics of FTD and its association with ALS may have led to an under-representation of cases," he wrote. "In addition, patients were examined long before the institution of detailed tests of frontotemporal lobe dysfunction, required to either confirm or refute cognitive impairment in this population."

It behooves us to "understand the nature of this aspect of ALS, its influence not only on survival but also on the quality of life of patients with ALS and for their caregivers, and also to shed light on the biological nature of this process," Dr. Strong concluded.

Primary source: Archives of Neurology, 2006; 63: 345-352
Source reference:
Rippon, Gregory A, M.D., et al, "An Observational Study of Cognitive Impairment in Amyotrophic Lateral Sclerosis"

Additional source: Archives of Neurology, 2006; 63: 345-352
Source reference:
Strong, Michael J., "ALS-Not What We Thought"

Help for the flakies

From Heather Brannon, MD

Have you noticed red or flaking skin around your nose or in your eyebrows? How about in your scalp - especially over your forehead or ears? If you answer yes, you may have something called seborrheic dermatitis or seborrhea.

Cause of Seborrhea
Seborrhea is a chronic inflammatory skin disorder that affects the areas of the head and trunk that have sebaceous glands. A type of yeast that has an affinity for these glands called Pityrosporum ovale may be the cause, but this has not been proven yet. It is believed that the build-up of yeast in these glands irritates the skin causing redness and flaking.

Who Gets Seborrhea?
Seborrhea is more common in men than women and affects 3 percent of the general population. It occurs more commonly in older people who are bedridden or have neurologic conditions such as Parkinson's disease [and ALS]. Seborrhea also affects almost 85 percent of people with AIDS.

Treatment of Seborrhea
Adults who have seborrhea usually experience a waxing and waning course. In other words it can't be "cured". The good news is with proper maintenance, seborrhea can be controlled. Furthermore, most of the treatments can be found over-the-counter.

Proper hygiene plays an important role in treatment. Frequent washing with soap gets rid of the oils in the affected areas and improves symptoms. Sunlight inhibits the growth of the yeast; therefore exposure of affected areas to sun is helpful, although caution should be exercised to avoid sun damage. The main medical treatments are antifungal shampoos and topical steroids.

Seborrhea Shampoos
There are several good antifungal shampoos on the market that can be purchased without a prescription. The main shampoos are selenium sulfide found in Selsun, Pyrithione zinc found in Head & Shoulders and Sebulon, Coal tar found in Sebutone and Tegrin, and finally ketoconazole found in Nizoral.

All of these shampoos have a medicated smell. The way to use them is to shampoo and leave on for at least 10 minutes then rinse off. The shampoos can be used on the face and other parts of the body as a lotion with the same instructions as long as precaution is used around the eyes. Do this daily until the redness and flaking is controlled then use 2-3 times a week as needed to keep symptoms from returning.

Topical Steroids For Seborrhea
Topical steroids reduce the inflammatory response and help control itching. Hydrocortisone cream 1% can be bought over-the-counter and is safe to use on the face. Apply twice a day to the affected area until the redness resolves. Save the hydrocortisone for flare-ups and use the antifungal shampoo for maintenance because long-term steroid use can cause side effects like acne and thinning of the skin.

When to See a Doctor For Seborrhea
You should see your doctor if you're not sure you have seborrhea. Other conditions that can be similar are psoriasis, rosacea, atopic dermatitis, or superficial fungal infections.

You should also consult your doctor if you have tried this over-the-counter treatment and you still have symptoms, especially if you have very thick flakes. Your doctor may recommend a stronger steroid or a combination medicine to help dissolve the dead skin. Finally, it may not be feasible for black persons to shampoo every day. Ask your doctor about a special steroid preparation in oil that can be used on the scalp like a pomade.

Staying Alive — Does Personality or Belief Make a Difference?

by Margaret Wahl
Copyright 2004 Muscular Dystrophy Association

Alison Grossman, a clinical neuropsychologist associated with the Kessenich Family MDA/ALS Center at the University of Miami, says she got a surprise when she first began counseling ALS patients.

Grossman had worked with people who had cancer, AIDS, head injuries and a variety of other conditions, and found that depression was common. But when Grossman gave depression assessment tests to ALS patients, she found that “the majority of them were not depressed at all, not even close to clinically depressed levels.”

That seemed “counterintuitive” to her, and, working with neurologist Walter Bradley, medical director of the Kessenich Center, she began to formulate some research questions and goals to see if she could find out more.

Personality characteristics reflect a certain amount of genetic influence, the researchers reasoned. Perhaps the finding of a cluster of personality traits might help solve another piece of the genetics puzzle in ALS.

Last year, Grossman received an MDA grant to study the impact of psychosocial factors on ALS onset and disease progression.

Although she recognized that a study of personality traits would have some inherent pitfalls, because “personality” is hard to define and to isolate from mood and circumstances, Grossman nevertheless decided to see what she could find out.

She chose to question someone very close to the person with ALS, such as a spouse or close friend, and interviewed that person not more than six months after the ALS diagnosis.

She and her colleagues used a standard, “five-factor” personality test, which consists of 240 statements, with which the respondent can either agree or disagree. “He’s pretty set in his ways” and “He thinks he’s better than most people” are examples.

Putting Emotions Aside
Emphasizing that her findings so far are only preliminary, Grossman says her interviewees generally reported that, before the illness, the person with ALS had characteristically responded to stressful situations by forging ahead to meet a challenge, concentrating on what needs to be done, and suppressing painful emotions while doing it.

Grossman has now extended her studies to include observations of factors that bode well or ill for survival once someone has ALS. She doesn’t have much data yet, but she suspects some coping strategies will prove to be better than others and that psychological health could even have an impact on disease progression itself.

An ALS Personality?
Not everyone believes that certain personality traits are correlated with particular diseases.

Steven Albert, who describes himself as “the psychological guy” on the team at the Eleanor and Lou Gehrig MDA/ALS Center at Columbia University in New York, says he’s skeptical of that hypothesis.

Albert, an epidemiologist whose specialty is patient decision-making, says it’s hard to imagine an ALS-prone personality profile. Even if you found some correlations, he says, “you’re looking at people who already have ALS, and the disease could change many aspects of how you think about yourself.”

Albert doesn’t doubt that some personal factors are associated with longer or shorter survival with ALS. He puts these in the realm of deeply held beliefs about life and death, as well as coping skills, competency in disease management and self-care, and access to social support, rather than personality traits that affect disease progression per se.

Test of Time
When Albert and his colleagues studied decision-making in ALS, they found that, “on the whole, people have a pretty good idea of what they want, and they don’t change their minds too much.” The results were published in 1999 in the journal Neurology.

When the researchers probed patients’ decisions about life-extending interventions, such as assisted ventilation or a gastrostomy tube, they found that wishes expressed early in the disease correlated pretty well with what people actually did later.

“I think the desire to make maximum use of life-extending technologies is in most cases part of a deeply held set of beliefs or an ideology, and less a function of mental health,” Albert says.

There are people whose attitude is “I would never consider living like that” and those who say, “I want to be around to see my grandchildren,” Albert says.

In a later study, published in Neurology in 2000, Albert and colleagues looked specifically at religiousness and spirituality and their effect on decisions made by people with ALS.

They found that those who were more religious or spiritual were less likely to want life-extending technology. People who described themselves as less spiritual or religious were more willing to use medical interventions.

Albert doesn’t think these decisions have much to do with mood, mental health or personality, but with “deep, well-entrenched, consistent approaches to the world.”

The religious perspective, he believes, may reflect a desire not to “manipulate the world.” He likens this view to positions about abortion and embryonic stem cell research. Those with a less spiritual point of view don’t mind such tampering if it prolongs life, he says.

Other Factors
Researchers acknowledge that genetic factors now being studied undoubtedly have a strong influence on how long people with ALS survive. Many of these factors are likely to be independent of personality traits and unrelated to decision-making, life skills or social support systems.

Living for Today, Locked in a Paralyzed Body

Copyright 2004 New York Times, By JOHN SCHWARTZ and JAMES ESTRIN

Dr. Jules Lodish welcomes visitors to the downstairs bedroom of his Bethesda, Md., home with a robotic greeting that bursts from his computer's speaker.

Ten years of living with amyotrophic lateral sclerosis, or A.L.S., a progressive, paralyzing disease, have stilled nearly every muscle; he types with twitches of his cheek, detected by a sensor clipped to his glasses.

But ask him how he feels about his life, and Dr. Lodish, his eyes expressing the intensity denied to his body, responds: "I still look forward to every day."

CLICK HERE for 2 Patients' Stories: A multimedia presentation with audio and photos of two patients with amyotrophic lateral sclerosis.

A.L.S., or Lou Gehrig's disease, is often described as a kind of living death in which the body goes flaccid while the mind remains intact and acutely aware. The prospect of being trapped in an inert body and being totally dependent on others drives many sufferers to suicide. When Attorney General John Ashcroft attacked an Oregon law allowing doctor-assisted suicide in 2001 - a case that is still working its ways through the legal system - patients with the disease were among those who supported the law in court.

But while the legal case and much of the national attention has focused on the issue of the right to die, less is known about those patients who want to live, and, like Dr. Lodish, will go to extraordinary lengths to do so.

With adequate medical care, patients often can live for years relatively free of physical pain from the disease itself. "It's more a sort of existential, psychic sort of pain," said Dr. Leo McCluskey, a neurologist in Philadelphia who treats many people with the disease.

As a result, patients and their families are forced, on a daily basis, to take stock of the meaning and quality of their lives and to make repeated decisions about how much is too much.

"With A.L.S., you have a choice about when to stop treatment," letting nature take its course, said Dr. Linda Ganzini, a professor of psychiatry at Oregon Health and Science University in Portland, who has studied patients making end-of-life decisions.

What keeps many patients alive, experts say, is a sense of having unfinished business - perhaps a milestone "like getting the last kid off to college," said Dr. Mellar P. Davis, a professor of hematology and medical oncology at the Cleveland Clinic.

Those patients who do best are those who have insurance that covers nursing and medical care, allowing them to avoid some of the major health risks associated with the disease, and family members who can cover the hours when expert help is unavailable.

Many patients, Dr. Ganzini said, have deep religious beliefs that help sustain them, and they are able, "to find hope in the future, find meaning and tolerate the daily ongoing losses that they are experiencing."

As Dr. Davis put it, "Quality of life becomes a moving target - what was one day an unacceptable quality of life becomes an acceptable quality of life."

Dr. Lodish's body sits limp in a wheelchair and his tongue lolls; a machine breathes for him through a tracheostomy tube in his throat. He lost the ability to talk more than three years ago, he says, then jokes, "but not the ability to be annoying."

At a time when even business executives fall into the shorthand of teenagers' text messages - "r u going 2 the mtg?" - he refuses to cut corners, communicating in eloquent sentences in person and via e-mail.

There are no half measures for Dr. Lodish, a hematologist and oncologist who devised his own intricately detailed treatment regimen. He wrote a 30-page guide for his nurses that sets standards for a sterile environment that go beyond hospital practices, rules that have helped him avoid the infections that kill many patients.

When he could no longer eat, he did the research to come up with a recipe for the nutrient blend that flows down his feeding tube - even determining that the ingredients were kosher - and he typed the two-page guide to its preparation, twitch by twitch, with a special program on the laptop that helps him to choose whole words or phrases from scrolling lists.

This wire to the world keeps him connected to his family and friends, and allows him to remain an important part of their lives. He continues to provide medical consultation, and now advises patients with A.L.S. and their families on how to organize their own care and use the communication devices he has mastered.

"One irony is with many people I communicate more now than when I was well," Dr. Lodish said.

By holding on, he said, he has been able to see many of life's milestones, including the marriages of two of his three children.

When his older daughter, Elizabeth Lester, became pregnant with the first grandchild, she asked her father to make the official family announcement.

"He still plays the same role for me," she said, "I still consult him on financial matters and other kinds of things."

Dr. Lodish said that his own determination to live comes, in part, from his long experience in treating cancer patients, who often feel that a diagnosis is a death sentence.

"I spent my career getting people to live with their illnesses until they died," he said, "if they weren't cured."

Now, he says, "My illness has validated my approach to my caring for people." His wife, Carolyn, says she and her husband draw comfort from each other and from family jokes that have worn thin with repetition and age.

"We all say he's a better dancer than he used to be," Mrs. Lodish said with a tired smile.

Choosing Death

Not everyone with the disease makes the same choice as Dr. Lodish. Patients with the illness, Dr. Ganzini said, are 25 times as likely to die by doctor-assisted suicide as people with other diseases, she said.

Dr. McCluskey, the neurologist in Philadelphia, said that at least 90 percent of patients with A.L.S. decided to die when they could no longer breathe on their own, although medical science can extend their lives much longer. For many, the tracheostomy surgery to implant a breathing tube marks a dividing line between living naturally and being kept alive artificially, and introduces serious medical complications and new burdens of care on family members.

Without a tracheostomy, patients' lungs stop working on their own. The level of carbon dioxide builds up in the bloodstream and the patient goes to sleep. Morphine is given to ease suffering and anxiety. Within hours - sometimes within minutes - sleep gives way to coma and coma to death.

Once a tracheostomy has been performed, however, a patient who wants to end his life has to make an active decision to turn off the ventilator.

Dr. McCluskey discusses death with every patient, he said, but the conversations begin in earnest when breathing begins to become impaired and the choices are not so hypothetical. After they have come to a decision, he revisits the issue again and again, giving them opportunities to change their minds.

Most patients decide that they want a feeding tube, Dr. McCluskey said, but the vast majority turn down a breathing tube. Most of those who do request mechanical ventilation leave instructions in advance to turn off the machine if they come to the point that all connection to the outside world ends. He calls this the "locked-in state."

Dr. Lodish has not yet reached that point, but he said that when he did, he could imagine deciding that he had had enough of living with his illness.

"It would have to interfere with my ability to relate to people," he said.

The crucial element, Dr. McCluskey said, is choice.

"That's what this whole conversation is about - to empower people," he said, "even though they are so debilitated and sick, they are actually in control."

Needed for Longevity

Dr. John R. Bach, a respiratory expert at University Hospital in Newark, said that more patients might choose to live longer if their doctors knew more about the disease and the best treatments - and about hope.

"Physicians invariably tell these patients that they have a year or two to live and that there's no hope," he said.

Dr. Bach said he encouraged patients to think in terms of the longest possible life with the disease, and he has developed techniques to put off the insertion of a tracheostomy tube as long as possible, including mechanized girdles that mimic breathing, and masks and mouthpieces that keep the air flowing in and out of the lungs.

Speaking of the withdrawal of medical support, Dr. Bach said, "I have nothing against euthanasia" for patients who truly want to die. But, he said, "you should not allow euthanasia for the first two years," because many patients reach an accommodation with the illness.

"Do you know what happiness is?'' Dr. Bach says, citing a survey that showed patients on ventilators tend to rank their level of satisfaction with life at 5.1 out of a possible score of 7; the average person in the same surveys has a score of 5.5. "Happiness is reality divided by expectations."

Most days, Gregory MacDonald faces his disease with his own blend of black humor and commitment, and says that he wants to live for years to come. Other days he is not so sure.

A.L.S. has ravaged his once-muscular frame. He is unable to move from the neck down. On one of the recent good days, Dr. Bach cheered him with the opinion that if his lung capacity remained stable, Mr. MacDonald could survive without a tracheostomy for another 10 or 15 years.

He was joyful. But an acquaintance who had driven him to see the doctor was incredulous. Mr. MacDonald recalled that she asked, "You want to stay like that for 10 or 15 years?"

"Absolutely!" he responded.

Just a few weeks later, however, came a bad day. He choked on a pill and did not have the strength to cough it up or work it down. The panicky and miserable ordeal lasted for nearly an hour, and he saw a dwindling existence ahead.

"Is life worth it at all costs?" he asked. "If I'm exchanging carbon dioxide, is that the only criterion?"

A school administrator, Mr. MacDonald was an energetic outdoorsman before the disease struck him. He does not fully buy into his doctor's sunny outlook.

"It's a living nightmare, and you can't imagine anything worse," he said. "But from my life experience, I can guarantee you that things can always get worse."

Once an avid guitarist - he played finger-picking country and blues - the first signs of illness came, he said, when "I couldn't play basic things." The initial diagnosis, in February 2002, was delivered by a doctor who detailed the physical losses to come and eventual death in a clipped, clinical monologue that ended with his handing Mr. MacDonald a box of tissues and walking out.

"If it weren't for the kids, I'd have gone off a bridge," he says.

Today he sits in his Tuckahoe, N.Y., apartment on a recliner, a 52-year-old man who can say with a smile, "With the exception of a fatal disease, I'm in almost perfect health."

He punctuates his conversation with a frequent turn of the head to sip air from a mouthpiece.

He says that the good days outnumber the bad days, but that the bad days can be intense. Recently, he won a long dispute with his insurance company, allowing him 12 hours a day of professional nursing assistance instead of the 4 hours a day of the low-skilled care he had before. The difference in his quality of life, he said, has "given me a whole new outlook."

Friends and family, including his girlfriend, Julia Stephenson, and his former wife, Catherine Beazer, help fill in the hours that his insurance does not cover.

"It is in a sense a family disease," Dr. Davis of the Cleveland Clinic said.

Mr. MacDonald is tied into the daily lives of his 13-year-old son, Dylan, and his 11-year-old daughter, Cheyenne, whose custody he shares with Ms. Beazer.

Mr. MacDonald also suffers from the litany of medical problems that come with the disease: frozen joints that have to be kept supple through physical therapy, swollen toes that weep blood and can easily become infected. A hand left resting on his leg, over time, can cause agony as gravity forces the fingernail into his skin - a pain that he says can sometimes be worse than the time on a fishing boat when he accidentally slashed his hand with a gutting knife. He still allows himself small treats - a martini in the evening ("Medicinal," he says) and one cigar a week.

When he listens to the songs he once played, it can evoke a physical memory of playing that strikes him unexpectedly.

"A specific tone in a song, a specific cord change can do that - can make me quite weepy," he said.

Before his musical ability drifted away, he recorded a song that he had written for Dylan and Cheyenne. The cassette sits in a safe.

At the back of Mr. McDonald's mind is a grim calculus of life, death and pensions. He stopped working last spring after completing the school year in a wheelchair, and will retire when his months of previous unused sick days run out in January. If he should die before retirement, his children will receive three years' salary as a death benefit. Over the next three years, the death benefit diminishes and then vanishes.

Mr. McDonald says he wants to be there for his children, but he also wants to be more than a mere "living presence." He wants, he says, a life and a role in their lives that is "not only dignified but meaningful."

"If I can't eat and I can't speak, quite frankly I can't imagine wanting to entertain that for very long," he said.

But he also has trouble envisioning dying. "When you have so much to live for, the thought of it becoming unbearable doesn't - it never overshadows the fact that I can't imagine saying goodbye."

Meaning for Others

Finding meaning in life is not only the fundamental challenge for A.L.S. patients, said Dr. Adele Zinberg, a psychiatrist who works with the homeless and who has lived with the disease for seven years.

"A lot of what I do in my work is help people find meaning - everyone needs it, whether it's through their family or their work or some other cause," said Dr. Zinberg, who can operate a powered wheelchair. "Everyone has to feel that their life has meaning."

She says that some patients ask, "How can I talk to you about my problems when you have your own problems?"

She tells them: "Mine seem more obvious. But we all have our own challenges."

Dr. Lodish also counsels other people who have suffered life blows. He recalled that a doctor friend recently asked his advice about ways to help a friend who was deeply depressed after a serious automobile accident.

"Much of this boils down to whether or not one can hang on to who one is," he wrote in response. He said that he was still what he had always been: a father, a husband, a friend.

"In fundamental ways, I feel totally unchanged," he said. "Quintessentially, I have found that ambulation, movement, swallowing, eating, talking, breathing, and self care are not me. They are substantial physical losses; but they are not me."

Dealing With Swallowing Difficulties

by Bob McDonald

As chewing and swallowing problems develop, it will be necessary to make dietary changes to cope with these reduced eating abilities.

Consult with your dietitian or doctor regarding changes to your diet. With a weakened tongue and lips, it is not only difficult to chew, it is difficult to position food in your mouth so it won't either fall out between your lips, or fall down your throat before you have finished chewing.

When eating or drinking consider the following:

Smaller and softer
Food should be softer and cut into smaller pieces that can slide down the throat with minimum chewing.

Not too runny
If food or drinks are too runny, some of the liquid can run into the airway to the lungs and cause coughing.

Not too dry
If food is too dry, such as dry toast, it tends to irritate the throat and causes coughing. This problem can often be solved by adding butter, jam etc.

Not too sticky
Foods that are too sticky, such as a thick sticky sauce, will be a problem if they don't flow in the mouth and throat. Thinning the sauce can help.

Foods that may be easier to manage

Custards, applesauce, sherbets, puddings, plain yogurt

Crustless toast with butter, crustless French toast

Dark chicken meat with gravy

Canned fruit, soft fruit (for example, bananas)

Eggs (scrambled, poached, omelettes)

Cooked cereals (with milk)

Casseroles (macaroni and cheese)

Milkshakes, frozen ice cream bars

Mashed potatoes with gravy

Gelatin with yogurt/cottage cheese

Salmon/tuna/egg salad

Thick soups

Juice nectars, tomato juice, vegetable juice

Pasta with sauce

Specific foods that may cause problems

Extra-spicy, “hot” or acidic foods

Soft fresh bread

Cookies, crackers, dry cereal, graham crackers

Dry muffins, cake

Dry, fibrous, or bony meats and fish

Coconut, pineapple

Sticky foods (for example, peanut butter)

Stringy vegetables (for example, lettuce, celery)

Fried noodles, rice

Popcorn, potato chips, nuts

Fruits and vegetables with skin or seeds (for example, peas, corn, apples, berries)

A dietitian can make helpful suggestions about the following:

Suitable methods of cooking;

Substitutions for suitable foods;

Ways to thicken thin liquids (for example, use commercial thickeners, mashed potato, arrowroot, gelatin, sour cream, egg, cornstarch, flour, infant cereals);

Types of semi-solid foods (pudding, custard, cottage cheese, pureed fruit).

If pills are a problem to swallow, grind them into powder and mix them with applesauce or another easy-to-eat food. Some medications are available in liquid form. Ask your pharmacist about this possibility.

Nutrition
It is difficult to maintain a fully balanced diet if you have chewing and swallowing difficulties. There are many ways to add nutrients to food - this is not the time to worry about fat and cholesterol! Special high-nutrient powders, drinks and puddings are available commercially in some drug and health food stores. Check out how you like the taste before spending too much money on these products. When you are unable to continue eating normal meals, you should consult a dietitian for recommendations regarding nutritional supplements. Also, if you haven't already done so, now is the time to consider having a feeding tube.

Diagnosis of ALS

ALS is difficult to diagnose because the symptoms are similar to those of other neuromuscular disorders, many of which are treatable. The diagnosis is usually based on a complete neurological examination and clinical tests.

The neurological exam usually shows evidence of muscle weakness (localized or widespread, depending on the extent of the disease). The exam also reveals muscle atrophy. The muscles may be so stiff that when the neurologist moves them, they continue to move abnormally afterward. When the neurologist tests the "knee jerk" reaction, the movement is abnormally quick.

Because ALS affects the skeletal, voluntary muscles, the neurological exam does not reveal abnormalities in the sensory reflexes (i.e., vision, hearing, taste, smell, touch, or bowel and bladder control).

Tests
Nerve conduction velocity (NCV) and electromyography (EMG) help diagnose nerve and muscle disorders. NCV is administered before EMG and measures the speed at which nerves transmit electrical signals.

During NCV, electrodes are placed on the skin over a nerve that supplies a specific muscle or muscle group. A mild, brief electrical stimulus is delivered through the electrode and the response of the muscle is detected, amplified, and displayed. The strength of the signal is also measured. Neurological conditions can cause the NCV to slow down or to be slower on one side of the body. The strength of the response also provides clues to help with diagnosis and to determine the extent of the disease.

EMG measures nerve impulses within the muscles. Tiny electrodes are placed in the muscles in the arms and legs and the electronic responses are observed using an instrument that displays movement of an electric current (oscilloscope). As muscles contract, they emit a weak electrical signal that can be detected, amplified, and tracked, providing information about how well the muscles are working. These responses are abnormal in cases of ALS.

Tests may be performed to rule out other neurological disorders. Magnetic resonance imaging (MRI) may be used to rule out spinal cord disease. Blood tests may be done to detect the presence of heavy metals such as lead in the blood. Laboratory tests may detect abnormal proteins or hormone levels associated with other neurological diseases. A lumbar puncture or spinal tap may be performed to analyze the cerebrospinal fluid for genetic abnormalities (e.g., viral, autoimmune, neurotoxic).

The Diagnosis of ALS - Psychological Impact

Impact on patient

The diagnosis of ALS may trigger a wide variety of emotions. These emotions may include: shock, denial, disbelief, anger, relief, or acceptance.

It all depends on who the patients are, where they are coming from, whether they are early or late in the course of the disease, and whether they have seriously considered the possibility before it was raised by the physicians who are making the diagnosis.

Ordinarily, none of us wants to die. Learning that our demise may take place within the next few months or years and that, in the process, we will gradually lose the ability to function independently is shocking, unpleasant, and hard to believe. It becomes harder to believe if we are young or young-at-heart. It is even harder to believe if we receive the diagnosis with most of our body still working.

In contrast, receiving the diagnosis of ALS may be perceived as a source of relief for patients who have been getting progressively weaker or disabled and have been told, "We don't know what's wrong with you," because such a situation is, in itself, a source of anxiety. The patients know that they are getting weak and losing ground; giving the condition a name provides the patients and the families something to relate to and enables them to regain control and redirect their lives accordingly. Patients in later years of life, who have fulfilled most of their ambitions and who have realized that "we all have to die of something," are more likely to accept the diagnosis of ALS when it is given.

Having said that, receiving the diagnosis of ALS is a difficult process under all circumstances and usually needs to be done in several stages. Unfortunately, an all-too-common situation is that the first physician who raises the possibility of ALS does so unexpectedly in the course of a busy work day without the time to deal with the many questions about the meaning and implications of this diagnosis. Furthermore, most individuals, even if they are physicians, are not particularly comfortable discussing issues relating to death. These are sources of distress for patients and families alike, which may not be changed easily. Nevertheless, once the possibility of ALS has been raised and the patients are now being seen especially in order to investigate this possibility further, there is greater opportunity to plan enough time to deal with the meaning and impact of the diagnosis and begin the process of educating patients and families about it.

It is very hard to receive a diagnosis of ALS. The instinctive response, "It can't be true," or "Why me?" technically termed "denial," may be brief or, rarely, a permanent response. In the short term, denial may be useful by providing temporary protection from the shock of the diagnosis. However, if denial continues, it may prevent patients from becoming involved in dealing with the consequences of the diagnosis, and this may not be desirable. The course which patients may take from denial to acceptance has been outlined by the psychiatrist and author, Elizabeth Kübler-Ross. Patients may experience feelings of anger and of depression. They may enter a phase of bargaining with themselves, with their physicians, or with God. For example, they may hope that "another diagnosis will turn up" or "maybe my rate of progression will be particularly slow." One of the most effective ways to advance in the direction of acceptance is requesting confirmation of the diagnosis, or a second opinion, preferably from a neurologist with experience and interest in ALS. Specifically, this process provides additional opportunity to be educated about the disease. However, obtaining a second opinion is not a cure for the feelings of rage, anger, or depression.

The psychological impact of the diagnosis extends beyond the patients' worry for themselves. Invariably, there are concerns for the family, concerns about being a burden to the family, concerns about the financial implication of the disease, and concerns about "how will they manage without me?" A fair number of patients find that sharing these concerns with others, be they patients or professionals, is an effective way of coming to grips with them and developing solution-oriented strategies. Others prefer to "go it alone." Patients may become depressed. I believe that it is appropriate to receive counseling and pharmacological treatment for depression, regardless of its cause, because it may shorten the duration and severity of the depression. On occasion, individuals have expressed reluctance to follow this course because they felt that it was "natural" to be depressed, having learned of their diagnosis or having witnessed the progression of their disease. (See also Psychological Support - Treatment of Depression.)

A point of encouragement is that the overwhelming majority of patients and families alike come to terms with the diagnosis and achieve a sense of closeness as they face its challenges together.

Impact on family

A diagnosis of ALS is an unpleasant shock, not only for the patients, but also for their families. Family members may experience any of the range of emotions experienced by the patient, but each family member may respond differently and with a different time frame. It is not at all unusual for family members, particularly spouses, to take the diagnosis much harder than the patients. This presents a problem, particularly when families resist receiving help or counseling from people outside of the family, because then the patients need not only to deal with their own fears and emotions in the face of the diagnosis, but also to be sources of support to their families. While some patients may rally to this task and find that comforting family and friends is their way of coping, many may find it very difficult or impossible to be constantly on the giving end of support at a time when, by rights, they should be on the receiving end.

The strain on the primary caregiver for a patient with progressive chronic disease is well recognized. While support groups for caregivers are important by enabling them to share and gather strength from each others' experiences, a more practical solution is the establishment of a schedule of support, whereby the primary caregiver receives frequent breaks and so does not become the only caregiver. This is a responsibility which should be borne by extended family, friends, and members of social or religious organizations. All too often patients and families are reluctant to accept this type of help, but it is important to avoid exhaustion of the caregiver.

Impact on friends

A diagnosis of ALS comes as a shock to the patients' friends. Responses vary - some will run away, some will draw closer. There is nothing like a crisis to bring out the best in your true friends. While some patients may enjoy educating their friends about the details, causes, and outcome of amyotrophic lateral sclerosis, many may not. After a while, it becomes tedious and possibly a source of discouragement to explain how one is going to die. Consequently, it is helpful if friends educate themselves rather than look to the patient and family to educate them.

Friends can help by offering to do things that they would do anyway, such as visiting or going out together. Friends can help by offering to do specific tasks, including giving primary caregivers some time off so that they can get out for a while.

Some friends, understandably, have difficulty in accepting the implications of a diagnosis of ALS. They bombard the patients with all sorts of ideas and pathways to explore. Some of these ideas may be outside of conventional medical practice and even do more harm than good. Furthermore, it is not fair to patients who have accepted the course and outcome of their condition to have their hopes raised by well-meaning friends in order for them then to be dashed by their physicians. It is, thus, more humane if such friends discuss their ideas with the patients' physicians (after obtaining the patients' consent to contact the physicians) rather than burdening the patients with them.

Overall, in the course of a disease such as ALS, the support of family and a circle of friends can help lighten the load of a difficult journey by distributing its burden.

Acknowledgments and waiver of copyright

This manual was prepared by Carmel Armon, MD, department of neurology, Loma Linda University School of Medicine, Loma Linda, California, with the help of many patients, families, professional colleagues, and friends. Stacy Turley and Monika Johnson typed (and retyped) the manual. Lee Lesneski, RN, drew the figures. The cover was designed by Bates Moses. The Loma Linda University Medical Center department of marketing produced the second and third editions.

Printing and distribution costs of the first and third editions were borne by the Friends of Loma Linda University ALS Patients' Fund and the Neurology Clinical Research Center. Major support to fund the printing of the second edition was received from the Loma Linda University Medical Center Employees' Contributions Fund. Additional support was received from the Center for Neurologic Study, San Diego, California, and the Loma Linda University Neurology Clinical Research Center.

This manual is provided at no cost to patients and their families while supplies last. A donation to the Friends of Loma Linda University ALS Patients’ Fund will always be appreciated.

The material in this manual is not copyrighted and may be reproduced, unaltered, in whole or in part, in any form, provided that the entire text of the Acknowledgments and Waiver of Copyright is attached to it and provided that this condition is adhered to by anyone who receives or disseminates this material.

ALS 1996 and Beyond: New Hopes and Challenges
A manual for patients, families, and friends

Third ("Year 2000") Edition
Author: Carmel Armon, MD

ISBN 0-9655186-0-4

Published by the Department of Neurology, Loma Linda University School of Medicine, Loma Linda, California.

First Edition - May 1996
Second Edition - October 1996
Third Edition - November 1999

Life on the Vent: The Other Side of the Mountain

Copyright Muscular Dystrophy Association
QUEST Volume 8, Number 3, June 2001

by Erin Brady Worsham

Macy's Thanksgiving Day Parade, 1997
The Macy's Thanksgiving Day Parade has long heralded the start of the Christmas shopping season. In 1997, it marked the beginning of a new life for me. It had been just over three years since my husband, Curry, and I received my diagnosis of amyotrophic lateral sclerosis (ALS) and I was given three to five years to live.

I lay in bed in my Nashville home that morning, as I had done the two previous days, too exhausted to get up, and watched the televised parade. Helium-bloated Garfield, Bullwinkle and Blue from "Blue's Clues" floated ponderously down the streets of New York.

An unnatural stillness in my body suddenly made me conscious that my heart was pounding madly. I had stopped breathing, just like that. After three years of watching and waiting for this moment, death was slipping past my vigilant guard.

My body rejected death's invitation to rest and fought for every breath.

Curry was in the room when I went into respiratory arrest. I couldn't find the breath to tell him I couldn't breathe. He initially left the room and called the nurse who handled our case. But then, seeing my blue lips, he called 911 and the paramedics were there in five minutes.

Our 2-year-old son, Daniel, was bundled off to the neighbor's house. I wondered when would I see him again.

After their record-setting arrival, the paramedics took their time setting up. They certainly weren't panicking — why should I? They started me on oxygen and transported Curry and me to Vanderbilt Hospital. As the oxygen flowed, my fear melted and I gave thanks.

The Plan Goes Forward
What happened that Thanksgiving morning may have surprised us, but how we chose to proceed had been in the planning for a long time. We'd already discussed with my pulmonary doctor, James Snell, the time frame for my getting a tracheostomy and ventilator. He must have known it wouldn't be long when he told Curry to call 911 if anything happened over the holiday.

Three years earlier, I wasn't sure I wanted to continue living with ALS. Following my diagnosis, I staunchly declared that I would not live on a machine.

That was before we discovered I had gotten pregnant the day after my diagnosis. For six years we'd tried to have a family. How could I think of dying while carrying such a precious gift inside me? So I decided to use whatever means possible to stick around and watch this miracle child grow up.

That meant getting a feeding tube, a tracheostomy and a ventilator when the time was right for each. Curry supported this decision. We made sure everyone working with us was aware of our choices.

I got my feeding tube in June 1997, when eating and drinking became too much of an effort and I lost 20 pounds. It took some time for my stomach to adjust, but then my body blossomed with the balanced nutrition and unlimited fluids I could have without fear of choking.

For three years I had climbed the mountain of ALS. My muscles weakened from the exertion and eventually gave out. The longer and higher I climbed, the thinner the air became, until I reached the summit on that Thanksgiving Day and couldn't breathe at all. The next day I fell gently to sleep under the anesthesia and awoke on the other side of the mountain.

A New Therapy
Breath in, breath out, breath in, breath out, breath in, breath out. Six times a minute the ventilator filled my lungs. The rhythmical whoosh of the ventilator was now my constant companion. I soon found I didn't mind its steady cadence.

I naively thought that once I was plugged into the ventilator, I could go home and resume my life with my family. But there were arrangements to be made for my homecoming, Curry needed training with the ventilator, and I needed rehab.

Rehabilitation isn't usually associated with ALS, the logic being that there's no going back after the muscles have atrophied. No one told the therapists this at the Vanderbilt Stallworth Rehabilitation Hospital. They took me on as their first ALS patient.

People with ALS and other neuromuscular diseases have healthy lungs. What we lack is the diaphragm power to operate them properly. As the diaphragm (a muscle) weakens, it becomes harder to breathe deeply and cough effectively. Secretions build up in the lungs, which can lead to pneumonia and death. When I went on the ventilator, I was using only 8 percent to 10 percent of my lung capacity.

For two weeks the staff of respiratory therapists, under the direction of Stephen Lampe and Brenda Butka, worked me over mercilessly. I knew I was in trouble shortly after my arrival when two therapists came into the room with an Ambu bag, a balloonlike device that's used to pump air into the lungs for resuscitation or suctioning.

"You're not going to like this," they said. "But when we get finished with you, you will love it!"

Stallworth uses a very simple, but effective, therapy that was developed at Dallas Rehab (now part of Healthnet Hospital). The therapist covers the exhaust valve of the Ambu bag and hyperinflates the lungs. Then with the butt of the palm of one hand, he delivers a powerful push to the diaphragm as the air is released. This causes secretions from deep in the lungs to come flying out of the trachea. Saline helps loosen the secretions.

The first time I received this therapy, the pain was excruciating. The walls of my lungs had grown stiff from disuse and protested mightily at the hyperinflation. But each day they became more pliable and my capacity increased. I remember the morning the last big plug flew out and made my therapists very happy. As they had predicted, I soon began asking for the therapy.

Healing and Grief
Though my lungs healed, my emotions remained in turmoil. Everything turned me into a puddle. Curry, who was staying with me in the hospital, would go and fetch Daniel every day. It comforted me to watch them eat supper together, or to have Daniel lie down and nap with me. I didn't want him to be afraid of his mama's new equipment.

From the moment we're born and take our first breath, breathing seems to be our God-given right. Having to rely on a machine for every breath, I relinquished that right forever. And so I grieved for that loss and began the process of learning to trust my ventilator and accept it as a part of my body.

One hurdle remained before I could go home. I had to get out of bed. It sounds simple enough, but after three weeks of lying down, I was terrified. It took four people to transfer me and then the ventilator to the wheelchair. For the next few days Curry wheeled Daniel and me about the halls of Stallworth.

An outstanding moment in our Stallworth stay was when I rediscovered my voice. Before having the tracheostomy and ventilator, I'd lost the ability to speak for lack of air. My new trachea was equipped with a small, inflatable collar, called a cuff. When inflated, the cuff prevented my making any sound, and it was kept inflated for some days after the surgery.

When the therapists at Stallworth deflated the cuff, my voice erupted from my throat in a loud, liberating shout! We called my family in Louisville, Ky., and blew them away when I said "hi."

During our two weeks at Stallworth, Curry closely watched the therapists as they worked. They began allowing him to do the therapy and the suctioning while they observed. His confidence was growing.

As the ambulance pulled into our driveway, my heart pounded, this time in happy anticipation of our homecoming. The EMTs wheeled me into the house on a stretcher. Standing in the living room, without a bauble on it, was the prettiest Christmas tree I'd ever seen. Curry had slipped out of the hospital and gotten it. We were home for Christmas!

The Search for Florence Nightingale
We thought we had a good plan for my nursing care. I'm covered by the state-subsidized Tenncare. Snell prescribed 12 hours of nursing care a day to give my husband a rest. We had no reason to think this would be denied, but it had not been approved by the day I was released from Stallworth.

This necessitated our getting financial help from the family to hire people on our own. Though we talked to everyone we met in the hospital, trying to enlist nurses on our own was a bust. We couldn't afford to hire a nurse through an agency, so we had to settle for hiring a sitter. At least she could wake Curry up if there was a problem.

Our first sitter arrived at our house dressed in a leopard-printed outfit and confidentially told me this was her very first job as a sitter. My heart sank.

During the night, I awoke in a panic because the air was escaping from my open mouth as I slept. In my fear, I could make little sound. My guardian angel must have roused Curry, for he suddenly woke up. He set things to rights and went into the living room, where he found the sitter curled up and sleeping like a baby on the couch.

Incidentally, we solved the problem of the escaping air. Had I had my cuff inflated, it never would have happened, but I'm not comfortable with the idea of not being able to make any sound. We came up with a low-tech alternative. Now we leave the cuff deflated and I sleep with a washcloth between my teeth and cotton in my nose to prevent air from escaping.

Eventually, our social worker told us our nursing care had been denied. But we never received any direct notification from the state, nor any word about how to make an appeal. For six months we paid for a sitter out of pocket. The social worker encouraged us to get a lawyer and contest the state's decision.

Michelle Johnson with the Tennessee Justice Center thought we had a good case. She wrote a powerful letter to the state and we won, without ever going to court. Our case became part of a class action that resulted in the state's having to change its appeals process.

Being eligible for 12 hours of nursing care a day and actually filling those hours with nurses are two different things. Good nurses are a treasure!

We've been blessed with some excellent nurses over the years, but keeping our schedule filled is an ongoing battle. It's a fight we're more than willing to wage, because their help is indispensable in our lives.

Epilogue: The Big, Blue Van
It's been more than three years since that Thanksgiving morning when I confronted my own mortality and chose to fight for my life. Daniel is an impudent young man of 5, who shamelessly bosses his mother around. Our big, blue van takes us everywhere around Nashville, Middle Tennessee, and as far away as Virginia and Michigan.

It hasn't all gone smoothly. There was the time Curry forgot the canister on the suction machine and had to fashion one out of a Styrofoam cup and duct tape. It was nothing to write the patent office about, but it temporarily did the job until we got home.

And who can forget the day we went to the Russian exhibit at the museum and my ventilator tube caught on the van's wheelchair lift and popped apart? Curry truly amazed me that day.

While "bagging" me with the Ambu bag, he lowered me on the lift and tried to reconstruct my tube. A fierce storm was blowing up around us. Curry took me inside the museum, put together my spare ventilator circuit and got me back on track, with time left to see the exhibit. It's always frightening when you can't breathe, but each crisis teaches us more about the ventilator and how to solve various problems.

Using the Stallworth therapy, I've remained free from pneumonia. Before leaving Stallworth, Lampe gave us some good advice: Keep it simple!

My ventilator and feeding tube keep me going, and my Liberator communication device interfacing with our computer allows me to speak, write and draw. I was an artist before I became sick. After the diagnosis, I lost the heart to create. When I found it again, I'd lost the muscle! With the Liberator, I can create again.

The other side of the mountain is more beautiful than I could ever have imagined. I wouldn't have missed this adventure with Curry and Daniel for the world.

People are mistaken when they say they can't live hooked to a machine. Curry likes to remind me that I'm not hooked to the ventilator, it's hooked to me! Together, we're living a good life.

The Lurking Danger of Pressure Sores

Copyright Muscular Dystrophy Association
Volume 6, Number 1, February 1999

by Phil Ivory

2/99 - Pressure sores and bed sores are terms that basically refer to the same problem, the formation of a wound due to prolonged pressure on a particular point on the body.

The term pressure sores is perhaps more useful than bed sores, since it includes injuries caused by being in bed as well as those that result from sitting in a wheelchair or using an orthopedic device that presses against the skin. Decubitus ulcer is a term doctors use to describe any such sore.

The problem is a common one in nursing homes and among people with disabilities. But just because it's common doesn't mean it isn't also quite serious.

Once formed, pressure sores can take months to heal, can be quite painful, and can complicate and add to existing health problems. In worst cases, they can actually become life-threatening.

However, there are steps that can be taken to stop them from getting worse once they've formed or, better yet, to prevent them from forming in the first place.

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NATURAL DEFENSES
In a person whose nerves and muscles are healthy, the nervous system conveys a signal of discomfort to the brain whenever a part of the body has remained in one place too long and is receiving excess pressure. In response, the person shifts sitting position or turns over in bed, relieving the pressure.

In those with spinal cord injuries and other conditions associated with a loss of mobility and a loss of sensation, the individual may not be able to move to relieve the pressure and may not even be aware that a part of the body is under duress.

In contrast, in certain neuromuscular diseases such as Duchenne muscular dystrophy (DMD) or amyotrophic lateral sclerosis (ALS), sensory function largely remains intact. It may be partly for this reason that in patients with neuromuscular diseases, pressure sores aren't reported as often as might be expected.

In Amyotrophic Lateral Sclerosis (1998, F.A. Davis Company), Hiroshi Mitsumoto, David A. Chad and Erik P. Pioro cite a study which suggests that the biochemical properties of a protein called collagen (which is present in the skin) are different in people with ALS, and this difference may help protect them from pressure sores. Nonetheless, pressure sores can and do occur in ALS, particularly in later stages of the disease.

Certainly, even if sensory perceptions are intact, the loss of mobility associated with progressive neuromuscular disease will always create a danger of pressure sores.

In addition, unwanted curvature of the spine, or scoliosis, is a complication that often accompanies neuromuscular conditions. It can contribute to pressure sores because it causes the individual to lean to one side, placing disproportionate weight on one buttock.

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CAUSATIVE FACTORS
Pressure sores are most likely to form at a point where the bone is close to the skin.

Prolonged pressure from a bed or chair on one side and bone on the other makes it impossible for the affected area of skin to be properly nourished by tiny blood vessels called capillaries. The area of skin starts to die. The greater the pressure, the more likely damage will occur.

Friction is another potential cause. Movement that causes skin to rub roughly against bedding may damage the capillaries and diminish blood supply at a particular point. Dragging someone across a surface instead of lifting the person can cause this.

Excess moisture on the skin that results if the person suffers from incontinence of the bowels or bladder can also contribute to skin breakdown. Perspiration caused by wearing a brace or other orthopedic device can have a similar effect.

General poor health, undernourishment and obesity are other possible factors leading to pressure sores.

In A Clinician's View of Neuromuscular Diseases (1986, William & Wilkins), Michael H. Brooke writes that pressure sores may form on the heels of boys with DMD whose legs have been temporarily immobilized after tendon-release surgery.

Recent evidence suggests that any patient undergoing surgery for more than three hours faces a risk of developing pressure sores, caused by immobility during the operation and the use of anesthesia.

Damage to the skin may occur during surgery but not develop into full-blown pressure sores until some time after the procedure. As a result, sometimes the surgery's causative role may be missed.

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FROM BAD TO WORSE
In light-colored skin, the first warning sign of an impending pressure sore may be a soft, reddened area with no broken skin. If redness remains 30 minutes after the pressure is relieved, enough damage may have already been done that formation of a sore is unavoidable.

When seeking this sign in people with darker pigmented skin, it may be necessary to look for increased darkness rather than redness, or to check for a rise in skin temperature instead of a change in color.

It's imperative after noting this initial symptom to call in a nurse, doctor or other health professional, if one isn't involved already.

If a pressure sore continues unabated, the area will become blistered and then ulcerous, with a shallow opening in the skin, possibly accompanied by fluids draining from the site.

After that, the wound can become deeper, with destruction not only of the outer skin layer but also of the fat and muscle beneath, with increasing likelihood of pain and drainage.

In severe cases, if untreated, the wound can extend all the way down to the bone. At this point, there'll most likely be an excess of pus and dead tissue appearing in the site, with accompanying pain.

Fever and increased warmth around the wound are possible signs of infection, as is the presence of a green or yellow discharge. Once the site is infected, the surrounding tissues and the bone are also in danger of infection. Sepsis -- the general spread of bacteria throughout the body -- is a further possibility, paving the way for potentially fatal complications.

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TREATMENT
The initial step in treating a pressure sore is to make sure that no additional pressure is placed on the site until it has had a chance to fully heal. The placement of special foam pads and pillows can help a person lie in bed without putting pressure on a wound.

A wound isn't considered to be healed unless the skin is once again unbroken and normal color is restored, aside from permanent changes in skin color due to scarring. Once the spot is healed, pressure must be placed on it for short trial intervals only, with careful checks made for any ill effects.

For an open wound, a doctor or nurse may need to show the affected individual or caregiver how to tend the injury. This care may involve cleaning or irrigating the wound, removing dead tissue and applying a dressing.

Saline solution may be adequate for cleaning some wounds. It can be bought or made at home. Deeper wounds may require more stringent cleaning and more elaborate care, with careful monitoring for any signs of infection.

Antibiotics may be in order if infection is detected. In extreme cases, surgery or other procedures may be necessary to remove dead tissue to enable the wound to heal.

A new kind of treatment not yet widely used is called vacuum-assisted closure therapy. Through application of an air-tight foam dressing and a vacuum pump, negative pressure is created around a wound to stimulate blood flow and encourage healing.

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PREVENTION
Anyone who uses a wheelchair or must remain in bed for extended periods must be sure to change position regularly. Pressure sores can form in only a few hours.

Carol Stumpf, a physical therapist and manager of rehabilitation at University Medical Center in Tucson, Ariz., says a bed-bound patient should move or be moved at least once every two hours, if not more often.

A bed-positioning program might have a person lie on the left side, then on the back, then on the right side, all at two-hour intervals.

Using a specially designed bed, bed cover or mattress can help. These include air-filled, alternating-pressure mattresses; sponge-rubber mattresses with "egg crate" shaped modeling; and silicone gel or water mattresses. They adjust to the body's shape and help to spread pressure over a wider area. They don't, however, eliminate the need to change position every two hours.

One common sense strategy to prevent a person in bed from placing too much stress on one side of the body is to make sure that a TV is placed directly in front of the person, not on one side or the other.

For wheelchair users, pressure-relieving cushions filled with air or gel can increase comfort and guard against sores. But whether they're used or not, the individual will need to shift position as often as every 10 to 15 minutes. If he can't move himself, he should be moved at least once an hour.

Wheelchair users with sufficient upper body strength may be able to use a self-lifting exercise known as "wheelchair pushups," with doctor's approval.

People with neuromuscular diseases may benefit from using standing wheelchairs to occasionally relieve the pelvic area of the pressure caused by sitting. (See "Taking a Stand," Quest Vol. 5, no. 3.)

For users of braces and other orthopedic devices, special protective pads or a layer of cotton clothing worn underneath the appliance may help discourage sore formation.

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CHECKING THE SKIN
Good hygiene is crucially important. For unbroken skin, cleaning gently with mild soap and water is appropriate, followed by gentle drying (patting, not rubbing). Skin shouldn't be allowed to be too moist or too dry. Overrigorous cleaning can chafe or cause excess dryness.

Ask your doctor if he recommends the use of any particular oils or lotions to help maintain skin quality. Shop wisely. No one agent is acknowledged to be universally superior in prevention or treatment of pressure sores.

Those in danger of developing pressure sores will need to create a daily skin-checking regimen. A parent of a child who uses a wheelchair should check the trouble spots in the morning when the child gets up and also whenever the child is taken out of the wheelchair or when an orthopedic appliance is removed. Adequate light should be available.

If the child wishes to be independent, he'll need to learn how to do this routine by himself, using mirrors if necessary.

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OTHER FACTORS
Bedding should be changed frequently and kept clean, dry and smoothed out. Bedding that is wrinkled or bunched can cause friction against skin and contribute to wound formation. Lying on a sheepskin or synthetic sheepskin seems to help protect against friction.

Good nutrition, too, is important in that it will help maintain healthy skin and make it more resistant to breaking down. Vitamins and mineral supplements might help.

Since circulation is a factor, it's possible that gentle massages and whirlpool treatments may be of value as preventative measures against pressure sores, although special gentleness must be used near the trouble spots.

More information on pressure sores is available online at the U.S. National Library of Medicine Web site at www.nlm.nih.gov. Go to the Health Info section, then search Health Services/Technology Assessment Text for "pressure sores" and select "Pressure Ulcer Treatment (Consumer's Guide)."

You can also contact the National Pressure Ulcer Advisory Panel (NPUAP) by writing to NPUAP, 1321 Duke St., Suite 304, Alexandria, VA 22314-3563 or by calling (703) 548-3100. The e-mail address is khsnpuap@aol.com and the Web site is www.npuap.org.

All Fall Down: Staying Upright With a Neuromuscular Disease

Copyright Muscular Dystrophy Association
QUEST Volume 9, Number 6, December 2002

by Christina Medvescek

Some people have nightmares about falling off cliffs. Brad Williams has nightmares about falling — period.

“Whenever I’m walking, falling down is always the major thought on my mind,” says Williams, 39, of Alexandria, Va. “It has to be on my mind a lot for me to be dreaming about it.”

Williams has Miyoshi distal myopathy, a slowly progressive form of muscular dystrophy that primarily affects the extremities. He hosts an MDA Internet chat under the nickname “dysf,” and notes that other chat participants also have reported falling nightmares.

“It’s like a flying-falling dream, except it’s just about falling down.”

For many people with neuromuscular diseases, falling is a common waking nightmare. Although most falls are merely frustrating — resulting in cuts, bruises and embarrassment — some are far more serious, breaking bones, causing head injuries and sometimes putting an end to walking.

What causes falling? More important, what “causes” stability? Are there ways to protect against injury? When is it time to go to a wheelchair? This article addresses those questions by culling the expertise of physicians and physical therapists, and the hard-knocks wisdom of people who fall.

Causes of Falls
Among the causes of falling for those with weak muscles, environmental hazards play a big part, of course: ice, snow, uneven ground, wind, crowds, gravel, toddlers, dogs and cats, even well-meaning friends.

“It’s when somebody pats you on the back to say hi that you go down,” wryly observes Jon Nitz, 47, of Tucson, Ariz., who has spinal muscular atrophy (SMA) type 3.

Whatever’s happening around you, your muscle problems are the underlying cause of falls. Weakness in leg muscles can lead to foot drop and tripping, or the inability to straighten your knee on uneven ground. Arm and neck weakness can cause balance problems.

Myotonia, or lack of muscle relaxation, which occurs at times in amyotrophic lateral sclerosis (ALS), myotonic dystrophy, myotonia congenita and paramyotonia congenita, makes muscles hard to control. Muscle cramps or too-tired muscles can drop a person in mid-stride.

Contractures, lack of flexibility and poor range of motion — common to many neuromuscular disorders — make it tougher to stay upright. Difficulties with proprioception — your awareness of your posture, movement and equilibrium — can make it hard to properly place the foot while taking a step.

Body habits are another big cause of falls, says Wendy King, adjunct professor of neurology at Ohio State University in Columbus and a physical therapist in the MDA clinic there.

“Often, people just make a move too suddenly,” she explains. “They’re doing something they’ve always done, like working in the kitchen, and they turn quickly to grab something out of a drawer, and down they go.”

Concentration is critical, agrees Todd Allen, 38, of Chicago. Allen has Kennedy’s disease (spinal-bulbar muscular atrophy), which is similar to ALS but with a slower progression.

“My subconscious still believes my body works on autopilot. If I’m concentrating, I can walk across a freshly plowed field, but if I’m distracted by talking to a friend, I can easily trip on a crack in the sidewalk,” Allen says.

Moving too quickly after prolonged sitting can cause a crash. For example, in January, Brad Williams stood up after a session at his home computer. His muscles were stiff and unready and his knee buckled, resulting in a severely broken leg.

The mind plays a part as well. In spite of progressive weakness from his SMA, Nitz stood all day in his job as an auto repair facility manager by leaning against the counter.

“Psychologically, you need that wall or counter to hang onto,” he says. “Take it away and psychologically you think you’re going to fall. You kind of cause yourself to lose your balance.”

Assistance and Resistance
Walking is a valuable activity for people with neuromuscular diseases who are still ambulatory. Being on your feet enhances bone growth and strength, helps prevent osteoporosis, improves muscle tone and makes it easier to interact professionally and socially.

But when falling is an issue, walking has the potential to do more harm than good. The trick is to safely maximize the benefits of walking while minimizing the dangers of falling. That’s what assistive devices are for.

Braces, canes, crutches, walkers, scooters and wheelchairs can be a big help — if you use them.

“Pride goeth before a fall,” King quotes. “For many people, it’s worth the risk of a fall not to use a device. The most common problem is not that people refuse any device, but that they use a single-point cane when they need much more than that.”

People may resist using a device because they think it looks funny, feels funny or makes them feel they’re giving up the fight to walk independently.

Safety First
But the bottom line, doctors and therapists say, is safety.

“Don’t give up hope, don’t stop fighting the disease, but be smart about it!” says Anne Clark, research physical therapist at the Eleanor and Lou Gehrig MDA/ALS Center at Columbia Presbyterian Medical Center in New York. “If you’re falling all over the place, do you continue to fight [the disease]? Absolutely! But you need to stay safe, too.”

Persistence doesn’t mean you should continue to use a device that doesn’t seem to help. MDA offers annual PT and OT evaluations, which may include an assessment of walking ability, as part of its clinic program.

“Each individual is different. There is some trial and error involved,” says Carol Marulic, a physical therapist and manager of therapeutic and diagnostic services for University Medical Center in Tucson. For example, if your leg braces or AFOs make it harder to walk, then go back and work with the therapist on another solution, rather than giving up on assistive devices entirely.

In the same vein, resist the urge to buy a decorative cane at a craft fair or a used walker at a yard sale. Not only might you be wasting money because the device won’t be effective for your situation, but you may be putting yourself in danger.

Devices need to be professionally fitted, and some materials are stronger than others. Wooden canes, for example, can have dangerous stress fractures that cause them to fail when you need them most.

If you’re falling frequently — once a week in different situations — or if you’re severely limiting your activities out of fear of falling, it’s time to consider a wheelchair or scooter. Therapists often recommend using a chair or scooter to get to an activity, then walking once you get there. This not only is safer, but it helps conserve energy and ultimately may keep you walking longer.

For more about deciding between a scooter and a wheelchair, see “As the Wheel Turns.”

Children tend to fall more frequently than adults but sustain fewer fractures.

“Children definitely will fall more because they’re less careful, but they’re more agile and able to pop back up. We encourage them to be active,” Marulic says. “When considering a wheelchair, the questions I always ask parents are: How often are they falling, how far can they walk safely and what is the school saying?”

Safety is key — but so is sensitivity to the affected person’s feelings about using a wheelchair or scooter. Marulic recalls a teen-ager with facioscapulohumeral muscular dystrophy who had needed a wheelchair for quite a while but absolutely refused to get one.

Marulic and the girl’s parents both thought she was in denial, “but I wasn’t listening to her as closely as I should have been,” Marulic confesses. “One day she told me in tears, ‘Just let me graduate out of the chair.’ She just wanted to walk down the aisle at graduation. You really have to listen to the patient and what is going on in their lives.”

Taking Precautions
Making simple home modifications and planning ahead are as useful in safe walking as are assistive devices.

Eliminate throw rugs and toys scattered on the floor. Even out variations in floor height or add handholds. Make sure furniture arms are sturdy enough to provide support when standing up. Replace a squishy deep pile carpet with a thinner, firmer one. Installing a new or used stair lift can make it safer, and easier, to go from one floor to another.

“I always ask adults, ‘Is there a rug or steps that you always trip over?’ It’s amazing how often they say yes,” says Petra Kaufmann, assistant professor of neurology, and associate director of the Pediatric MDA Neuromuscular Center at Columbia University in New York.

“They think they’ll take care of it one day but not this week. I always emphasize the importance of taking care of it right away, and recommend that they get a home evaluation.”

Professional home evaluations, offered by occupational or physical therapists, look at ways to make your house more user-friendly, both now and in the future.

Sometimes private insurance will authorize an in-home evaluation. You can do your own informal evaluation of your environment, too. Anticipate a fall, King advises.

“Look at your common pathways or places where you stand, like the kitchen, and do a ‘360.’ Ask yourself, ‘If I fell in this direction what would I hit? How about this direction?’ Then remove sharp corners or whatever.”

Children need more teaching and supervision than adults to learn caution, Kaufmann says. “It’s more of a challenge to keep them safe because they want to do the same things as everybody else,” she notes.

Review situations in which your child may need help — the playground, stairs in school or carrying books — and work together to create alternate strategies the child can live with.

Rest and sleep are crucial to fall prevention, says Patrick Griffin, 52, of Washington, Kan. Griffin’s Kennedy’s disease has given him many opportunities to “inspect the ground up close and personal.”

A former Army medic and mountain climber, Griffin now has to “listen to my body and rest before it becomes absolutely necessary,” even if it’s only a brief sit after walking across a parking lot.

He now allows himself to be helped and uses handicapped parking spaces.

“I’ve accepted that being seen as a ‘wimp’ or ‘lazy’ is preferable to falling and sustaining a concussion, or overtiring myself so that I need three days of intensive rest afterward,” Griffin says.

Falling Down and Standing Up
Falling hurts. As muscles weaken, it becomes more and more difficult to avoid injury.

One way is to fight the instinct to put out your hands to catch yourself, which can lead to arm or wrist fractures. As unnatural as it sounds, when you’re about to fall, “relax,” Williams advises. “You’re going to fall anyway and if you’re not rigid, it makes it less likely you’ll injure yourself.”

Allen agrees. “I’ve never been severely hurt when I simply let myself go down, curling up or rolling to take the impact in the fleshier parts of my body, such as the butt and shoulders.”

Allen finds in-line skating protective gear, such as wrist guards and knee and elbow pads, a practical way to avoid injury when romping with his dogs.

Judo taught Griffin how to fall as a youngster and he finds the
technique useful now. Whenever possible, roll with the fall instead of landing flat, he advises.

Tuck in your chin so your head doesn’t smash into the ground, he adds. When falling forward, extend an arm in a curve and tuck your head into it. Use the arm as a curve upon which to roll.

Often the worst part of a fall is getting back up again.

“It really helps to not get back up too quickly,” Allen says. “It helps to rest a bit and then think through exactly how to get back up.”

Williams has an armchair with a lift in it that raises him from sitting to standing position. More than once after a fall he’s made his way over to the footrest of the lift chair and used it as a hoist to get himself back up.

“That’s not what it’s designed for, but it works great,” he says.

Some people simply lack the strength to get back up by themselves. King tells horror stories of people who have lain for hours before help arrived, sometimes soiling themselves.

Get used to carrying a cell phone or emergency assistance pager at all times, she says, and don’t feel self-conscious about calling 911 for help. If you ask that the rescuers not to use their sirens, they usually won’t.

In the same vein, when he was walking, Nitz kept his front door unlocked so that rescuers could get inside if needed.

King also advises building up a network of people who expect to see or hear from you, including friends, neighbors and even the mail carrier. “If they don’t hear from you at a certain time, they can check on you.”

Wearing a heavy belt makes it easier for someone to hoist you to your feet, Griffin says. He recalls a time when he fell in front of the post office, was unable to get back up and leaned against his car to rest.

Two “little old ladies” stopped to help. He tried to wave them off but they said, “Nonsense, we’re retired nurses,” and took positions on each side of him.

Bending their knees, they grabbed the back of his belt with one hand and his shoulders with the other, then stood and raised his 190 pounds back onto his feet.

Use It or Lose It
People with neuromuscular diseases sometimes find themselves caught in a double bind: They’re walking less because they’re falling, and they’re falling more because they’re not walking.

Unused muscles rapidly deteriorate. Gently exercising and stretching your muscles every day makes falls less likely.

“Exercise is not just for strengthening, but for balance, coordination and flexibility,” says Stanley J. Myers, professor of clinical rehabilitation medicine, Columbia University College of Physicians and Surgeons, New York, and attending physiatrist at New York Presbyterian Hospital.

He adds, “Physical therapy is structured exercise.”

Both adults and children should learn the exercises from a physical therapist, then faithfully perform them at home, Kaufmann emphasizes.

“School PT is not enough. We want it ongoing, at least twice a week.”

Beyond PT, gentle physical exercise also is valuable, if done properly.

Allen notes that, “In the past I’ve tended to be somewhat irregular with my exercise. I’ve gotten too excited about my progress and pushed too hard and fast, leading to an injury. Then I’d greatly curtail exercise while hurt.

“Or I’d not push enough and get bored with the process and miss too many sessions in a row. Then I’d get injured when trying to resume at the same pace where I left off.”

He gets the best results, he says, “when I manage to be very regular and consistent.”

Falling and Disease Progression

Do more falls mean that you’re getting weaker? Maybe yes, maybe no, Kaufmann says.

Progressive weakness is the hallmark of almost every neuromuscular
disease. “If nothing else changes in the environment, yes, [falling] could mean the disease is progressing,” Kaufmann says. “But it’s important to be evaluated to see if there is anything else that could be causing it.”

Other treatable possible causes of falls include side effects from medication, other medical conditions (such as diabetes) or bad contractures. Lack of gentle daily exercise, including range of motion and stretching, can make the body stiffer and more unresponsive. Changes such as a new house, new work environment or new season can cause increased falls.

And bad fashion sense also plays a part. “I’m amazed when people with gait problems come in wearing flip-flops,” Kaufmann says.

The Big Fall
Nitz was told he would be using a wheelchair by the year 1995. He set a goal of walking until 2000 and actually walked one year past that.

But when an exuberant 4-year-old pushed against the back of his knees in January, causing him to crash and break his leg in several places, “I knew this was it. It finally got me,” he says.

He’s been adjusting to life in a wheelchair ever since.

By contrast, Williams, who broke his leg standing up from his computer desk and spent several weeks in the hospital, has been able to use a walker in physical therapy, and believes he one day will be independently ambulatory around his home and office.

What’s the difference? When someone is nearing the point of needing a wheelchair, a fall can put a sudden end to walking, Myers explains.

But don’t let the big fall make you give up, urges Williams. “When you break your leg, it’s easy to say, ‘Well, I won’t walk anymore.’ But medically that may not necessarily be true. Don’t give up, try physical therapy, see what you can get back.”

And if you find that a wheelchair is going to be your legs, don’t give up then either, Griffin says. Although he’s still walking, he relies more and more on his wheelchair for mobility.

“My wheelchair has reopened many places to me. I can travel much faster. It’s fun to go to a store and ‘fly’ down the aisles. No longer do I constantly have to loo