Diagnosis

When Mary was diagnosed, I didn’t realize I was already connected to people around the country who had been impacted by ALS. It turned out I knew four people who had lost a parent to ALS, and another who had lost a good friend. I soon met many more people whose lives were impacted by ALS: PALS, parents, children, spouses, friends, cousins… all of us forever changed by this horrible disease.

According to the ALS Association, ALS (also known as Motor Neuron Disease) typically strikes between the ages of 40 and 70, although it can strike at any age. At any one time, more than 20,000 people in the US are living with ALS. It is estimated that someone is diagnosed with ALS every 90 minutes. And every 90 minutes, someone with ALS dies.

On average, it takes two years from noticeable onset of symptoms and one year of medical attention to finally be diagnosed with ALS. For some people, it is a quicker process (for example, if they have a significant family history of ALS and one of the identifiable genetic mutations); for some people it takes longer.
Mary’s diagnosis was complicated, but really did follow the above pattern. She had been living with fibromyalgia for 15 years, already walking with a cane, with a base line pain level of 4-5 on a scale of 1-10. She had also been diagnosed with rheumatoid arthritis (RA) and osteoarthritis (OA) about 5 years earlier.
She went to her rheumatologist with some new symptoms (neck weakness and stiffness, loss of appetite, a large numb patch on the left side of her back) who said they were not related to the fibromyalgia or RA/OA, and referred her to her PCP.
She went to the PCP with a two-page list of concerns. The PCP took one look at the long list of seemingly unrelated issues and handed it back to her, expressing her frustration. Although the PCP did give Mary a referral to a neurologist, she wrote in her chart that it was likely somaticization.
Over the next year, Mary underwent multiple neurological exams, blood work, and scans; she was allergic to shellfish, so none of the scans (MRI, CT) could be done with contrast. Since Mary had always thought her mother had died of MS, that was what they were looking at. They also found bone spurs on the vertebrae on her neck, which could have been causing some of the pain, weakness and numbness. Eventually, they sent her for two pulmonary tests a month apart, which led to two EMG tests, and the preliminary diagnosis of ALS.
The ALS neurologist repeated the EMG tests and did extensive blood work and finally convinced Mary to do a spinal tap to rule out other diseases that have similar symptoms such as MS, chronic Lyme disease, heavy metal poisoning, etc. It was about 20 vials of blood.
The only differential diagnosis for ALS is genetic testing, which most insurances do not cover, and would not identify about 90% of cases. For most people, the diagnosis of ALS only comes after absolutely every other possible disease has been ruled out. That is why it takes so long to get a diagnosis.
There simply is not enough funding for ALS research. In most cases, we do not know what causes ALS. In some it is a genetic mutation that runs in families (familial ALS or fALS). In some, it is related to military service and exposure to certain types of chemical warfare – a high number of Vietnam and Gulf War vets experience degenerative neurological disorders such as ALS and Parkinson’s.
Please consider donating to ALS research and care through the ALS Association of Oregon and Southwest Washington so that we can continue to work toward advanced diagnostic options and treatments.

This photo is of Mary speaking at the memorial service for Laura Janedaughter, October 5, 2013. You can see the weight loss in her face and the hunched shoulders. She was diagnosed with ALS two months later.

ALS: Amyotrophic Lateral Sclerosis, aka Lou Gehrig’s Disease aka Motor Neuron Disease. In 90% of cases, there is no identifiable cause. About 10% of cases are familial, or genetic, in origin. I didn’t know a whole lot about ALS – except that it was fatal – before October 2013, when we began to suspect that what Mary had was not MS after all. Our worst fears were realized that Friday night in December when the phone rang and the doctor said, “It’s ALS.” It was confirmed by a second neurologist on December 19, 2013. We were told she would have two to five years. But that was before we realized it was respiratory onset, which meant that the nerves that died first were the ones controlling her diaphragm and allowing her to breathe. Respiratory onset only occurs in about 1% of ALS patients (PALS). Mary thought being rare meant she had a better chance; I knew it shortened her life span. I really didn’t understand what the next 22 months would bring, and it’s probably a good thing I didn’t.