Barrow Patient Recounts ALS Diagnosis
“I kind of noticed that my right big toe was not moving like it should, and I thought maybe I pulled something,” he said. “I went to see an orthopedist, did some tests, and that’s when he referred me to Barrow.”
Less than a year later, just before Thanksgiving, Gilmer received his diagnosis: amyotrophic lateral sclerosis, or ALS.
“I think the extent of what I knew about ALS was the Ice Bucket Challenge and Stephen Hawking,” said Gilmer, who is now 48 years old.
ALS, sometimes called Lou Gehrig’s disease, is a progressive neurodegenerative disease that affects the motor neurons in the central nervous system. When these nerve cells deteriorate and die, they are no longer able to initiate and control muscle movements. This causes the muscles in the body to waste away.
There are two forms of ALS: familial and sporadic. Familial ALS—which is inherited—accounts for only 5 to 10 percent of cases, according to the ALS Association. The rest of the cases are sporadic, occurring in people like Gilmer who do not have a family history of the disease.
The orthopedist conducted several tests to rule out other causes of Gilmer’s symptoms. Electromyography (EMG), which measures the electrical activity of muscles, indicated a possible neurological cause.
He underwent several more tests at the Gregory W. Fulton ALS and Neuromuscular Disease Center at Barrow before Neurologist Dr. Erik Ortega gave the diagnosis.
“I was just happy to have my family,” Gilmer said. “I wasn’t really sure what all was entailed and hadn’t really had the time to kind of absorb it. I just wanted to enjoy Thanksgiving.”
He waited about two weeks to tell his now fiancée and until the new year to tell his three daughters, who are now 10, 16, and 18 years old.
Since then, Gilmer tries to maintain his usual day-to-day life, which includes staying busy with the business that he co-owns. The Indiana native moved to Arizona in 1986 to study computer science at Arizona State University and has worked in the computer field ever since.
“I just try to enjoy the time I do have with the kids, enjoy working, and try to live as normal of a life as I can,” he said. “Luckily, the progression of my symptoms seems to be more on the slower side, which is good.”
Gilmer has also participated in clinical trials at the ALS Center and although he didn’t tolerate those treatments very well, he is planning to join another trial soon.
“I think it’s really important to try and move the science forward because it feels like there is almost nothing to be done and this is an incredibly brutal disease,” he said. “You’re slowly being paralyzed and everything is being taken from you.”
I kind of noticed that my right big toe was not moving like it should, and I thought maybe I pulled something. I went to see an orthopedist, did some tests, and that’s when he referred me to Barrow.
-John Gilmer, Barrow ALS Patient
As ALS progresses, it can eventually take away a person’s ability to walk, speak, swallow, and breathe. According to the ALS Association, half of people with ALS live at least three years after diagnosis, 20 percent live at least five years, and up to 10 percent live longer than 10 years. Approximately 20,000 Americans are living with the disease at any given time.
“Maybe a trial can help me currently, and if it can’t do that then hopefully it can help somebody at some time not have to suffer through these issues,” Gilmer said.
The only FDA-approved drug currently available for ALS is riluzole, which was approved in late 1995 and is believed to modestly slow progression of the disease. But advanced clinical trials and basic science research combined with the awareness and funds generated by the viral Ice Bucket Challenge have many researchers optimistic about future ALS treatments.
“Maybe they can find some commonality,” Gilmer said. “I’m sure there is some combination of some medicine or some process that would solve all of this. The problem is that we don’t know what it is, and we can’t find it if we don’t get people participating in these studies.”
Gilmer said he’s not really in pain but rather describes his disease as trying to operate on a battery capacity of 2 percent all the time.
“It’s exhausting, not to mention the other things that are still to come,” he said. “I guess the thing I would say to people is please help try and find a cure.”