ALS and the Uncertainty of Genetic Testing
Amyotrophic Lateral Sclerosis.
I hope those words aren’t as familiar to you as they are to me. To many people they are simply a collection of unfamiliar medical terms strung together. For me, they mean the loss of a family.
You may recognize them better if you concentrate on their first letters: ALS. It’s possible that you would have already had an image in your head if I’d instead started with the non-medical term “Lou Gehrig’s disease.” The image in my head harkens back to when I was 14-years-old and my dad was diagnosed with ALS. Unfortunately, that was not the first time I’d heard those letters strung together.
I was familiar with the disease. I knew it as the thing that took away my grandfather’s ability to speak and, eventually, took his life.
Over the next four years I came to know it more and more. I watched as those three letters took my formidable and unbreakable father and slowly broke him down. I heard them repeated over and over as I watched one of the strongest people I’d ever met waste away.
There is no cure for ALS, and the man who used to be the scariest person I knew became one of the most fragile.
As my father’s life changed, he and my mother were faced with yet another inconceivable quandary: should my dad get tested for the familial type of ALS?
Testing made sense. His father and uncle had both died from ALS and now he had it too. The test could reveal a genetic connection. But it could also uncover an unbearable truth, which may usher in a lifetime of worry when thinking about his five biological children.
“What if it came back positive,” he said, discussing the thought with my mother. “What if they have it too?”
Would we just give up on life? Would we be able to carry on knowing that we were simply waiting for the disease to take us too? Would we panic and start trying to do a hundred things at once trying in a desperate attempt to live a full life in 50 years? Would we choose not to reproduce and end the family line? Would it change our career choices?
The possibilities were endless.
Familial ALS (FALS) represents approximately 10% of ALS cases, with the other 90% being considered sporadic . FALS is autosomal dominant, meaning that each offspring will have a 50% chance of getting the disease .
Unable to live with the uncertainty, my father got tested in 2003. The tests came back negative.
As far as they could tell he did not have the familial type. Unfortunately these results did not provide solace.
If it wasn’t genetic, how were so many people in my family dying of this disease? What if my family had a different mutation not yet known?
My father died when I was 18. By this time he was wheelchair bound and could only move his head. A machine breathed for him because his muscles were too weak. He never lost his ability to speak, which was something he was always grateful for.
In the twelve years since my father’s passing, ALS research and awareness has increased significantly. With this increase, more genes associated with FALS have been found. Today, as I type this, I can’t help but to reconnect with the fear of my late father.
Now that new information is available, should I get tested?
If I have it, will it change my career choices? What about my three kids?
Amyotrophic Lateral Sclerosis. Lou Gehrig’s disease. ALS. Three letters give birth to immeasurable fear.
At the time of this writing, there is still no cure.
 Deborah Hartzfeld, MS, CGC, Familial Amyotrophic Lateral Sclerosis (FALS) and Genetic Testing. http://www.alsa.org/als-care/resources/publications-videos/factsheets/genetic-testing-for-als.html (accessed 16.3.18)
Osteopathic Medical Student - 1st year (OMS I)
College of Osteopathic Medicine
Pacific Northwest University of Health Sciences