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«Being struck down by a fatal disease is not something anyone wants to think about, but it does happen. The human body is a complex system with checks ...»

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Bionics and Cybernetics:

Not Just for Movies or Books Anymore

By Jen Payne

08/04/2009

Being struck down by a fatal disease is not something anyone wants to think

about, but it does happen. The human body is a complex system with checks

and balances that helps to keep it healthy. One of the things our body has to

help keep it going at optimum is a Negative Feedback Control System. This

system is inhibitory and opposes a change such as body temperature. This helps maintain a constant internal environment. For example, if the temperature decreases, the receptors in the skin will send a signal to the brain, which then sends a message to the muscles to shiver that works to restore equilibrium in the body.

Yet sometimes the body cannot handle an illness on its own. When this happens, we often seek our doctors looking for a cure. The doctors set up tests to help determine the problem, and if possible, they can prescribe antibiotic medication or suggest surgery to rectify the condition. Although doctors have at their disposal an arsenal of things that they can do to help patients, there are also diseases that have no cure, no corrective therapy and a gruesome prognosis.

Amyotrophic Lateral Sclerosis is a fatal degenerative disease that affects the motor neurons, leaving the patients with a life expectancy of 3-5 years. It is referred to as ALS, though it is more commonly known as “Lou Gehrig‟s Disease” after the baseball player who was diagnosed with it in 1939 and died in 1941. Other times ALS is referred to as (MND) for Motor Neuron Disease as it affects both upper and lower motor neurons. It does not matter if you are diagnosed with familial ALS in which a genetic factor is involved, or Sporadic ALS where there seems to be no genetic factors. Both have the same prognosis, incurability.

If there is no cure, how can we help those with ALS live as much of a normal life as possible until a cure is found? Men and woman living with ALS in 2009 between the ages of 35-75 years of age in northern New Hampshire who suffer from the isolation and frustration caused by the loss of motor neurons, and bodily functions can find that the use of bionics and cybernetics today can help with communication, self-reliance, independence, and dignity while alleviating some of the burden off their loved ones and caregivers.

A little over 5,600 people in the U.S. are diagnosed with ALS each year or about 15 new cases each day (Amyotrophic Lateral Sclerosis Association, 2009). That is 1-2 people per 100,000 that have or will develop ALS per year. ALS is most prevalent in men and women between the ages of 40 and 70, although the disease sometimes affects those in their 30‟s.

The symptoms of ALS either tend to start as muscle weakness or muscle fasciations in any part of the body, although usually in the legs or arms depending on which of the upper or lower motor neurons are affected. When the motor neurons stop sending impulses to muscles, the muscles begin to waste away, causing increased muscle weakness. Patients might also suffer from muscle twitching or cramping as the motor neurons die. Often times there are bulbar and spinal muscle involvement in which cranial nerves are affected (Caroscio 1986). This causes patients to suffer from problems with swallowing, difficulty in chewing, and slurred speech (wiki/bulbar palsy, 2009). About 43% might experience unstable emotions where a patient will have uncontrollable bouts of laughter or crying when pseudo bulbar palsy is evident (Caroscio 1986). Although ALS affects physical movement, eating, talking and eventually breathing, it does not effect eye movement, sexual function and bladder and bowel control (Carocio 1986.) Unlike a common cold, in order to diagnose ALS patients who go to the doctor with weakness or muscle twitching need to be referred to a neurologist who can properly administer the test Electromyelography (EMG.) There are two kinds of EMG in widespread use: surface EMG and needle (intramuscular) EMG (Electromyography, n.d). To perform intramuscular EMG, a needle electrode is inserted through the skin into the muscle tissue. Intramuscular EMG a surface electrode may be used to monitor the general picture of muscle activation, as opposed to the activity of only a few fibers as observed using a needle (EMG, n.d). X-Rays, MRI‟s and CT scans can also be performed to help properly diagnose ALS.

Jenifer Estes wrote in Tales from the bed “The phrase itself-motor neuron disease-didn‟t conjure up anything specific. But I knew it was bad. Instinct ordered me to leave my body and supervise from above. My spirit hovered over the scene, trying to make sense of a new phrase-and what I sensed was going to be a whole new life” (p 11, 2006).

Unfortunately, the first signs of having ALS mask themselves as fatigue or stress, and doctors usually recommend exercise and relaxation without realizing that there is a bigger underlying problem. My father, Nick, was very active when his symptoms of muscle twitching started to manifest. We often shrugged it off when he would complain that he could not push the lawn mower, or use the nail gun building his shed. Since he was in his early 70‟s, we figured that it was his age, and not ALS. When he finally did go to the doctors, he was sent home with a prescription for rest and lots of it.

Months went by, and he continued to get a little weaker every day, but his doctor continued to send him home with no answers. This situation is extremely common. Albert Robbilard, who wrote The Meaning of a Disability; the Lived Experience of Paralysis, went to three different doctors before he got a definitive ALS diagnosis months later. Even 7 years after the book was published, with all the new technology at a medical practitioner‟s disposal, my father was misdiagnosed several times before finally being sent to a neurologist and getting a diagnosis in 2006.





I spoke with Dr. Cohen, a neurologist at Dartmouth-Hitchcock Medical Center in Lebanon N.H., who is also my father‟s doctor, on May 27, 2009. I asked him what is it like for him to give grave news to patients. He sighed, took a breath and said, “It is always hard, very hard, but I feel it‟s important to develop a doctor-patient relationship first so I hold off on telling patients for as long as possible. This way they can feel that I am able to help them better cope with the news.” He went on to say, “Most the time, the patient goes right into denial, asking for their records and even second opinions.” I went on to ask him how many patients he is dealing with now, and how that affects his job. He sighed again, “I work with about 50 patients, all with different degrees of ALS, and get about 2 new patients a month. I don‟t want to give patients false hope, this disease has no cure as you know. It does not affect my job as I try to do my best for them. I also try to refer them to our physical therapists, psychologists, and nutritionists to help patients deal with the disease as it progresses. There really is not a whole lot more that I can do.” After speaking with Dr. Cohen I thought about the other end of the spectrum.

How did my father take the news that he has a fatal disease with no cure?

I called my father and asked him when his first symptoms started, and his reply was, “I had my first symptoms in the fall of 2004, and in 2006 I was diagnosed with PMA or Progressive Muscular Atrophy, but by 2008 Dr.

Cohen said it was predominately ALS.” I went on to ask him how the news affected him. He said, “I denied it. I thought it has to be something else. I have always led a healthy lifestyle, never smoked or drank, daily exercise, eating vegetables, vitamins and supplements, how could this happen to me?” I said, “So you were angry?” He replied, “Yeah, I guess I was, but more so as the disease progressed and I have lost more and more functions.” I went on, further asking him about his doctors and his reactions to them.

My first question was about his primary doctor and how this person helped him understand and cope with the disease. He said, “Dr. Kate Smith of Summit Medical Group in Littleton, New Hampshire, has been totally useless and uncompassionate to the extremes of not pointing me in the right direction, and making appropriate referrals to the doctors who could give me the help I needed, when I needed it.” The frustration of not knowing for so many months made my family angry, but even worse was the diagnosis.

Nick was losing functions in his arms, and he could no longer write his own signature by the time he was diagnosed with ALS. So, I went on to ask about Dr. Cohen. He replied, “The doctor and I knew I wasn‟t ready to hear the diagnosis but your mother insisted. When he did finally tell me, he suggested I take anxiety, depression, pain and spasm medications, and suggested I go to the monthly support groups.” I knew about the support groups so I went and asked him how his first one was. His response, “Once, and it was difficult because there was a 31 year old man, hooked up to breathing machines. He was so young, and so I could not bear to see that. To know that one day I will be in that same position is dreadful.” As difficult as it is for patients to understand there diagnosis and have physician-patient relationships it brings up another issue. Support groups can both be beneficial and painful. Mrs Payne, who I also spoke to briefly said, “It might be comforting to understand what another ALS patient is going through, but it also is a gateway into seeing your inevitable future.” This is essential information about support group, and how patients and families view other victims of ALS. My last question was if he would ever consider the use of bionics or cybernetics. His answer was, “No, I don‟t think I would. I just don‟t know enough about them, and I doubt if they would help.” His answer brought me up short, as I did not expect him to say no. I explained what I knew about them, but he just said, “I don‟t know Jen” repeatedly. Again, this was not the answer I thought my father would give, so I knew I had to interview people who were more positive about the possible helpful aspects of Bionics and Cybernetics.

Knowing how my father feels about bionics got me into thinking about where the research was at this point in history. “Research is to see what everybody has seen, and to think what nobody else has thought” (Albert Szent-Gyorgyi n.d).

Research into what causes, stops, and prevents ALS has been a very difficult road. French doctor Jean-Martin Charcot first described ALS in the late 1800‟s as a progressive Motor Neuron Disease. Since then, research has gone into overdrive with hospitals and clinics working together to find the root of the disease.

Research teams are focusing on genomes, genetics, brain and spinal cord neuronal defects, protein levels, metal toxicity, and environmental elements such as locations that could cause ALS.

Some of the most recent studies that have been focusing on the genome have found certain markers that correlate with shorter or longer survival with those with sporadic ALS.

John Landers from the Massachusetts Medical School and colleagues from around the world have conducted a “genome-wide association” looking at genes to determine ALS risk and survival factors (Muscular Dystrophy Association[MDA.org], 2009). The research conclusion is that they have found a Survival Gene.

The research was conducted in the United States and Europe and comprised of 1, 821 patients with sporadic ALS, 2,258 without ALS, and 1,014 people who have died from ALS. They found a single variant in the gene for KIFAP3 (Kinesin Family-associated protein 3) that significantly correlated with ALS survival time (mda.org, 2009).

The study concluded that patients with the chromosome 1[which are in pairs] with protein KIFAP3 on both had a survival time of 14 months longer, than those with the variant on just one or none. The researchers believe that having this variant helps reduce toxic molecules from entering nerve fibers.

They note that lowering KIFAP3 production or changing the interactions of this protein with other proteins might be worth investigating as an ALS therapy (mda.org, 2009).

Another study which is ongoing by Dartmouth-Hitchcock Medical Center in Lebanon New Hampshire, working with the University of New Hampshire, Wyoming-based Institute for Ethnomedicine and the New Hampshire Department of Environmental Services is looking at a possible link between algae found in Lake Mascoma, and a significant increase in patients with ALS living around the lake.

Elijah Stommel, a DHMC neurologist who has been mapping cases of the disease in New Hampshire, Vermont and Maine, says, “There's clearly a cluster of ALS around that lake.” The algae is known as cyanobacteria, a photosynthetic, single-celled organism that commonly occurs in New Hampshire and Vermont lakes and ponds… forming a blue-green scum on the water surface, according to the DES Web site (Gregg, Cox, 2009).

It has been researched that cyanobacteria has a neurotoxin amino acid BMaa (B-Methylamino-L-alanine) which has been found in the brains of dead ALS patients, further strengthening the link between cyanobacteria and ALS. Paul Cox, the executive director of the ethnomedicine research institute in Jackson Hole, Wyo, said “a small percentage of the population might be vulnerable to the neurotoxin… the hypothesis is that in those people it can trigger neurodegenerative diseases, including ALS.” This is very important when you consider the men and women living in Northern New Hampshire who spend their summer days in and around the lakes.

Cyanobacteria exposure is believed to potentially occur through a variety of means, including drinking, showering, swimming, boating or eating fish from infected waters (Gregg, Cox, 2009).



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