Genetic Testing Without a Net

When my Mom was diagnosed with ALS, the word “genetic” changed my entire life in one day.

I was also told, as I sat on the phone with the ALS Clinic social worker that afternoon, there are currently no genetic counselors in Chattanooga. In fact, there haven't been for some time due to funding cuts and staffing shortages. This is due to government nonsense and a medical system that's been stretched too thin since 2020. I was told all the same things weeks later by my Mom’s neurologist who offered to run my genetic panel for free.

So here I was facing this monster with no roadmap, just a short list of practical advice-

• Set up life insurance if you haven't. They'll deny you FOREVER if you test postive

• Consider long-term care insurance. Again, you'll never get it again

• Look into disability coverage, another policy that can say NOPE

• Oh, and you may want to consider mental health support

Good luck

If you have never faced the possibility that you may carry a gene associated with ALS, let me explain what that feels like. It is not just a simple mouth swab with a q-tip. It is a mirror you may or may not want to look into. And in my case, I was largely on my own to research what that mirror might show.

So where do you turn? Google of course. Or Redditt. Or Facebook. TikTok. Alas, the internet is both a library and a landfill.

I did find solid medical research, peer-reviewed studies from NIH and Europe, neurologists explaining penetrance and expansion repeats and risk percentages for my gene (C9orf72).

I also found people claiming their gene “mutated” because of a vaccine. Others claiming supplements or “liquid metals” could alter your DNA.

No. This is noise and click-bait.

Genes associated with ALS, including the well-known C9orf72 repeat expansion, are inherited variations. They are not created by vaccines. They are not corrected by drinking dangerous snakeoil tinctures. They are not neutralized by drinking some expensive essential oils in a pretty glass bottle.

C9orf72 is responsible for roughly 30 percent of familial ALS. Some neurologists now believe it may account for closer to a third of what were previously labeled “sporadic” cases, simply because more people are being tested.

This is not conspiracy. This is SCIENCE and medical data catching up with detection and testing.

Because counseling resources are disappearing, people like me are turning to the internet. And when the internet is loud, fear spreads faster than facts. We all know this...

This is why programs like the ALL ALS study matter so much. I enrolled in the ALL ALS research program to contribute to the research once my test came back positive. What I did not expect was that participation includes-

• Free genetic testing

• Free genetic counseling

• The option to not know your results if you choose that

That last part matters more than people realize.

This means you can participate in advancing ALS research without being forced to know your own genetic status. Autonomy is built into the program, which protects your mental health.

In order to qualify, you only need one confirmed relative with genetic ALS. For families like mine, where the question hangs in the air between every conversation, every birthday, at every holiday, and every quiet moment...that matters.

Genetic testing is not just about knowing. It is about timing. Insurance planning. Emotional preparedness. Reproductive decisions. Mental health. Privacy. And disclosure.

It is about having control with a disease that steals so much of it.

If you are in a city without genetic counselors, you are not wrong for feeling overwhelmed. You are not dramatic for needing time. And you are not irresponsible for wanting reliable information instead of enraging Facebook threads.

Here are a few things I can PROMISE you are true-

• Genetic ALS is inherited. It does not arise from vaccines or getting bonked on the head.

• Not everyone who carries a mutation will develop ALS. Penetrance varies, and some people will never develop ALS. Knowing your penetrance rate may help, it may not.

• Testing positive is not a diagnosis. It is a risk factor.

• Testing negative does not eliminate all risk.

• Counseling before and after testing is essential.

I wish someone had expressly said that to me. So I am writing it now.

If you are navigating this alone in Chattanooga, or anywhere else in the United States or the world, with shrinking resources, look into research programs. Ask about enrollment in a study. Ask what protections are in place. Ask whether you can defer receiving your results.

And set up the practical things first if you can. Cost is a factor, but so is protecting your assests and your family. Life insurance. Long-term care. Disability. It is uncomfortable to think about, but far easier to arrange and then cancel, than to know you'll never have them if you need them.

We, as Americans, deserve better infrastructure. We deserve accessible counseling. We deserve reliable information, not speculation. We deserve support when we get the results. We deserve facts that are not buried under fear. Genetic testing shouldn’t feel like wearing a blindfold. With the right guidance and access to research programs, it doesn’t have to be.

Until then, we can only share what we learn.

If you have questions about the ALL ALS study or genetic testing in general, I am not a medical professional. But I am walking this road, and I will share what I learn.

Sources & Research

ALS Genetics Overview

• The ALS Association, Genetics of ALS. https://www.als.org/understanding-als/who-gets-als/genetics

• Renton AE, Chio A, Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nature Neuroscience. 2014;17(1):17–23. doi:10.1038/nn.3584

C9orf72 and Familial ALS

• DeJesus-Hernandez M et al. Expanded GGGGCC hexanucleotide repeat in C9orf72 in ALS and frontotemporal dementia. Neuron. 2011;72(2):245–256. doi:10.1016/j.neuron.2011.09.011

• Majounie E et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with ALS and frontotemporal dementia: a cross-sectional study. The Lancet Neurology. 2012;11(4):323–330. doi:10.1016/S1474-4422(12)70043-1

C9orf72 repeat expansions are estimated to account for roughly 25–40% of familial ALS cases in European and North American populations and a smaller but significant percentage of sporadic cases.

Genetic Testing Recommendations

• Miller TM et al. Evidence-based consensus guidelines for ALS genetic testing and counseling. Neurology. 2023. (American Academy of Neurology recommendations supporting offering testing with counseling.)

• The ALS Association. New National Guidelines for Genetic Testing in ALS. https://www.als.org

Current expert consensus recommends that all individuals diagnosed with ALS be offered genetic testing with pre- and post-test counseling, regardless of family history.

Genetic Penetrance & Risk

• Benatar M et al. Presymptomatic ALS genetic counseling and testing. Muscle & Nerve. 2016. Discusses variable penetrance and the psychological impact of testing.

Carrying a pathogenic variant such as C9orf72 does not guarantee disease development. Penetrance varies by mutation type, family history, and age.

Research Participation & Access

• ALL ALS Consortium https://www.all-als.org

The ALL ALS study offers optional free genetic testing and counseling, including the option not to receive genetic results. Participation requires at least one confirmed relative with genetic ALS.

When Rare Becomes Personal- My C9orf72 Journey

When I received my own positive C9orf72 carrier diagnosis, I began searching for answers everywhere I could find them. Eventually, that search led me down a path I never expected… into genetics, probability, and the strange comfort of statistics. I was trying to understand how something so devastating could also feel so invisible. It’s a complicated mix of fear, clarity, and strange empowerment that comes with it.

The United States population sits at roughly 342 million people. Around 33,000 Americans live with ALS. That translates to approximately one in every 10,374 people.

Imagine a small town of 10,000 residents. Statistically, one person in that entire town may be living with ALS at any given time. That rarity explains why many people have never encountered the disease directly. ALS is sparse enough to remain largely invisible to the public, yet catastrophic inside the homes it enters.

The cruelty of ALS is often described by the "Ice Bucket Challenge" co-founder Anthony Senerchia as a "glass coffin", the mind stays sharp while the body retreats. Because the disease progresses quickly and often confines individuals to their homes, the public rarely sees the full scope of its impact. If something is not visible, society struggles to grasp its urgency.

To visualize it another way, consider a sold-out professional sports arena holding 20,000 people. In that entire crowd, statistically, only two people would be living with ALS.

Compare that to breast cancer, where approximately one in eight women will be diagnosed during their lifetime. That visibility fuels awareness, funding, and recognizable advocacy symbols. ALS, by contrast, is rare enough that people often ask me if it even has a ribbon. That rarity creates isolation and contributes to limited research funding.

When a specific genetic mutation like C9orf72 is identified, the statistical lens shifts dramatically. The C9orf72 hexanucleotide repeat expansion is the most common known genetic cause of ALS, but it still represents an extremely small subset of cases.

At any given time in the United States, only about 1,800 to 2,500 people are living with C9orf72-related ALS. That translates to roughly one in 150,000 people nationwide.

Statistically, these are considered stochastic events, occurrences that arise without clear cause or fault. On paper, they are random. Living inside that fraction of a percentage, however, does not feel like math. For a person like me, or my mom, in that 1-unit of the ratio, the randomness doesn't feel like math; it feels like a target.

Yet knowledge also creates power. Identifying the C9orf72 mutation means we are not fighting an unnamed enemy. Researchers are actively developing gene-silencing therapies, biomarker tracking, and early-intervention treatments designed specifically to interrupt the toxic processes triggered by this mutation.

If I had been standing in this reality thirty years ago, the gene would still exist, but the research would not. Today, there are clinical trials, emerging therapies, and legitimate scientific momentum. That matters more than statistics ever could.