My Diagnosis of ALS/MND, how it was achieved and tests that have followed since.

I was diagnosed with ALS/MND in 1994. Because I managed to slow the neurodegeneration and even improve to some extent, it has occasionally been suggested that I was originally misdiagnosed. Whilst this possibility cannot be entirely ruled out, the following describes the process of my diagnosis:

I had been seeing one of the world's most prominent neurosurgeons for many years due to complications following severe spinal and head injuries. When neurodegenerative symptoms first became apparent I was tested for brain damage, brain tumours, spinal tumours and every conceivable cause of progressive neurodegeneration that could possibly be attributed to my various injuries.

I underwent nerve conduction tests with a consultant neurologist in Canberra, ACT. I had numerous X-rays, CAT scans and MRI's in Goulburn, Canberra and Sydney of my brain, neck and spine over a period of two years.

As neurodegeneration continued and worsened dramatically I was eventually referred to the consultant neurologist at one of the largest teaching hospitals in the Southern Hemisphere. Two Electro Myographs (EMGs) followed and the rate of muscle loss and denervation was constant. I was later admitted to hospital for muscle biopsies, extensive neurological tests, including a third EMG and other nerve conduction tests.

Whilst in hospital (for an entire month) I was also assessed by a physiotherapist, rehabilitation specialist and even a psychologist. I also had every blood test relevant to the diagnosis of known potential causes of neurodegeneration at that time, February 1994.

The diagnosis after leaving hospital was "Systemic neurodegenerative illness, probably slow, limb onset Motor Neurone Disease (ALS)." The letter from the referring neurosurgeon to my local doctor stated that I had (and I quote) "Systemic neurodegenerative illness - at best, spinal muscular atrophy".

The original tentative diagnosis of slow, limb onset Motor Neurone Disease (ALS) was 'confirmed' a year later. Throughout that following year I had a two-day neuropsychological examination; a thorough assessment by a pain management specialist; reassessment by another rehabilitation specialist and a physiotherapy team. Most significantly, I had ongoing neurological examinations, blood tests and EMG's at regular intervals.

By this stage I could not walk unaided and needed a wheelchair to travel distances of more than a few metres/yards. I was not actually confined to the wheelchair and fought this option even on occasions when it would probably have been more convenient. Getting around the house was a matter of rolling or sliding off a chair and shuffling or toppling from one hand-hold to the next.

Technically I was still "mobile" but that mobility was very limited and carefully choreographed. I had two falls in the garden when alone and once lay there for what seemed like hours before a neighbour found and assisted me inside.

Fasciculations and muscle cramping were frequent and sever. Muscle atrophy was clearly visible, particularly in my left limbs. Swallowing remained unaffected but there was some slurring of speech due to weakened facial muscles. I did not lose my ability to speak at any stage and only experienced relatively mild, intermittent tongue fasciculations.

Symptoms were gradually progressing to the right side of my body when I started my personal clinical study into the possible use of combined antioxidants and readily available medications to slow the progress of neurodegeneration. The story from that point is taken up on this website's My Clinical Study page. Year One in particular still amazes me when I re-read it from time to time.

Several people have questioned the accuracy and thoroughness of my diagnosis because of the improvement of my symptoms and the apparent lack of continued neurodegeneration and muscle atrophy. If anything, the process of my diagnosis was even more extensive than normal because tumours, stroke, undiagnosed nerve damage and other possible causes were definitively ruled out long before tests for ALS/MND were commenced or even considered.

I had been taking prescribed pain and anti inflammatory medications for several years before diagnosis. I still take them but when I stopped taking them for the purpose of this study, my neurological symptoms did not change significantly.

Rilutek/Riluzole was not available in Australia when I was diagnosed. Although now available I would not consider taking it even if my condition worsened considerably. The only prescription medications given to treat ALS/MND were baclofen and low dose diazepam (valium) to reduce painful muscle cramping and spasms. I still take these in reduced doses and they provide some symptomatic relief, now primarily for the side effects of spinal nerve injury.

Only one sad soul has ever accused me of having an ulterior motive for publishing the results of my study, my improvement and my attempt to help others. As I pointed out to him, I receive no research funding for the work I have undertaken. If I were not so adamantly committed to the study of neurodegenerative illnesses I could probably make a decent income with far less mental and physical effort by consulting, teaching or working in my fields of professional expertise.

Although this may seem unreasonably altruistic and difficult for some people to comprehend, certain things are simply too important to walk away from. Having been faced with the prospect of imminent death more than once in my life I have been forced to assess what is truly important to me - and what is not. I am committed to researching ALS/MND until a cause and cure has been found.

I trust that my experiences and the successes stories of others diagnosed with ALS/MND will help and possibly even inspire PALS & CALS everywhere.

OTHER TESTS AND TREATMENTS I HAVE HAD

Please note that as a result of chronic spinal injuries, I experience discomfort and even extreme pain after travelling in a car for more than an hour. Longer journeys require significant analgesic medication to control pain and often result in several painful, even disabling days following the journeys.

After many years on a very limited income all my savings have been spent, assets liquidated and I owe money to the bank, friends and relatives who have helped me financially.

This is common for many chronically ill or injured people around the world. If you "break your body" badly enough it will eventually break the bank. In my case that happened many years ago. These factors have had a significant influence on the tests, therapies and treatment options available to me since diagnosis.

MYCOPLASMAS After four attempts to get a clear diagnosis I "probably have" a mycoplasmal infection. This is not much use to me, even more so as I cannot receive treatment on the basis of that diagnosis.

The four tests included one in Australia that only tested for acute mycoplasmal infections rather than the chronic and hidden infections that have been implicated in some degenerative illnesses. This test, predictably, returned a negative result.

Tests from blood sent to the USA were expensive, time consuming and complex. The first required a 4am start and 8 hours driving to and from and around Sydney where blood was taken, packed in dry ice then rushed to the airport to be air freighted and tested in the USA within 48 hours.

The first samples were somehow "damaged en route". The next attempt required over 11 hours of driving with several volunteers so that the blood could be drawn and sent with a shipment from Newcastle University. The samples were inexplicably stored for four months and when results became available even the controls (volunteers who had already tested positive for mycoplasmal infection) tested negative.

My fourth attempt was successfully tested within 48 hours and produced a result of a "high probability" of chronic mycoplasmal infection. This result was too vague for me to qualify for the recommended antibiotic therapy in Australia.

Private clinic treatment was far too expensive and would have required Australian blood test results that supported the findings of the American results.

LYME DISEASE/BORRELIA This was almost identically convoluted, expensive and frustrating as testing for mycoplasmas. My several attempts to be tested here and abroad included an Australian laboratory that claimed it "would find nothing" before even receiving my blood sample. Predictably I tested negative.

Blood air freighted from Australia to the USA again got lost and/or damaged. A second attempt produced a very clear, photographic, positive result of Borrelia burgdorferi and Babesia infections.

After waiting for 11 months I finally got to see an Australian specialist who recommended that I be treated for chronic borrelia and babesia infections. As I spent time in wilderness areas and literally came face to face with deer and other wildlife when travelling in the USA, the specialist considered me a "high risk" patient.

Because my tests were done overseas I could not be treated under the current Australian health system. A live-in private clinic in Sydney was suggested but the cost was prohibitive. Numerous attempts to re contact the specialist in Australia for advice failed and no alternative, affordable treatment has been suggested by other conventional practitioners.

Lyme Disease is classed as an exotic illness in Australia despite clear evidence that the borrelia spirochete is carried by the common bandicoot tick and was first discovered not far from Sydney. The borrelia spirochete has been found on every continent except Antarctica.

DENTAL AMALGAM REMOVAL Friends and fellow researchers very kindly paid for me to have my amalgam fillings removed and replaced with non toxic fillings.

I thoroughly researched and followed all recommended safety protocols before, during and after gradual amalgam replacement and noted no negative side effects at any stage.

I have not recorded a significant improvement of any of my symptoms since amalgam removal but it is not possible to tell if I would have deteriorated if my amalgam fillings had not been removed and replaced.

PHYSIOTHERAPY A full physiotherapy assessment was conducted at the time of my diagnosis. Regular sessions of physiotherapy at the local hospital made me feel considerably worse.

A private physiotherapist would probably be able to design a workable regimen for me but the lengthy periods spent in uncomfortable waiting rooms and the inappropriate, half hearted treatment I received simply demonstrated how poorly understood neurodegenerative illnesses are and how underfunded and overworked the Australian hospital system is.

Physiotherapy would probably be helpful if the appropriate level of care were available and affordable.

HEAVY METAL CONTAMINATION I have had hair analysis and blood tests that showed I had low level heavy metal contamination but I read that most people in western societies would probably return similar results.

Other blood tests failed to show significant heavy metal contamination of any kind. Chelation was suggested but the cost and regularly travelling great distances to the nearest clinic made this untenable. Had high levels of heavy metal contamination been definitively confirmed I would have found some way to get treatment.

ORGANOPHOSPHATES Although I have not been thoroughly tested for organophosphate contamination, my history of working with animals and on occasion being drenched from head to foot in malathion and other insecticides put me in a high risk category. Living in the country, I was often exposed to clouds of crop dusting chemicals whilst cycling.

ENVIRONMENTAL POISONS My history of taking any work available rather than accepting unemployment benefits resulted in me working in places with toxic chemical levels that would now be way above legal health and safety limits.

I worked for many months in a factory, adjacent to its industrial (toxic) waste room, which on occasion spontaneously combusted! Workers were routinely overcome by fumes. I suffered gushing nose bleeds and headaches daily. I was also exposed to high levels of formalin/formaldehyde for extended periods.

At various times I was exposed to noxious fumes and toxic materials on a near daily basis. Thankfully, industrial safety standards have improved considerably since then. I have little doubt that any accumulated toxins or damage done at that time could have contributed to my current chronic symptoms.

ACUPUNCTURE It was an acupuncturist who confirmed my findings of a link between liver function and neurodegeneration. When training and working in China he helped to treat a PALS - although in China there was no diagnosis of ALS as such. He explained that acupuncture was considered a minor part of treating ALS, even though treatments were given on a daily basis.

I found that acupuncture improved my symptoms, but not to the significant extent it had done when used to treat various other illnesses and injuries. The need for daily treatments made it impractical and ultimately the cost again made it impossible to continue treatments. I believe regular or even occasional acupuncture would be a useful adjunct to any regimen used to treat ALS/MND.

CHINESE HERBS Drinking the boiled Chinese herbs I was prescribed actually made me retch. I could probably cope a little better now but at the time I had to use a tablet form of the prescribed herbs, which is apparently not as effective.

As with acupuncture, the primary treatment was initially to improve and strengthen liver function and adjustments and additions were made with each visit. The usual problem of travelling regularly to Sydney and paying for the herbs, consultations, fuel, etc. eventually prevented me from continuing this treatment.

Please see the Therapies page for additional information.

When I wake each morning I read a little sign I have attached to my bedroom wall and decide...

This can be a good day or a bad day - my choice.
I can be happy or sad - my choice.
I can complain or I can cope - my choice.
Life can be a chore or a challenge - my choice.
I can take from life or give to life - my choice.
If all things are possible,
How I deal with those possibilities is - my choice.
Steve Shackel