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.

The Invisible Work of ALS Caregiving

When you are navigating a diagnosis, whether for yourself or someone you love, the world shifts overnight. Systems you never thought about suddenly become gatekeepers to survival. If you are walking that road right now, or trying to help others understand this quietly devastating disease, maybe my experiences can save you time. Maybe they can make you feel less alone. That is my hope. I plan to share the frustrations, the small victories, and everything in between.

Yesterday I spent hours on the phone with Medicare trying to get my mother’s Part D prescription drug coverage expedited so she would not have to wait until March 1st for medication coverage. It was draining in a way that is difficult to explain unless you have lived it. Navigating federal bureaucracy while watching someone you love decline from ALS is a special kind of exhaustion.

My mom stopped working on January 8, 2026. Continuing her job had become physically impossible. Two weeks later, her SSDI was approved and expedited because ALS qualifies under the Compassionate Allowances Act. Social Security uses advanced screening to fast-track certain conditions, and ALS is one of them. That part of the system worked exactly as intended.

But when she left her job, she also lost her employer health insurance. That meant waiting for Medicare to begin before she could refill her prescriptions. Medicare coverage begins on the first day of the month following approval, which placed her start date at February 1, 2026. Her first SSDI payment, however, will not arrive until the third Wednesday of March. That leaves a long stretch without income while facing mounting medical expenses. Even with legislative improvements meant to help ALS patients, the system still moves far slower than this disease.

I enrolled her in Part D prescription coverage on February 2. The confirmation email stated her coverage would begin March 1. Another full month without medication access. That is when I picked up the phone today, assuming there might be emergency provisions similar to Compassionate Allowances.

After two and a half hours navigating transfers and explanations, I learned about a gap in the ALS Disability Insurance Access Act of 2019. The law successfully eliminated the five-month SSDI waiting period and the twenty-four-month waiting period for Medicare Parts A and B. But Part D is different. Prescription drug coverage is administered through private insurers, and those plans still follow standard enrollment cycles. The federal expedited status for ALS does not override those fixed start dates.

Explaining this to my mother was devastating. No income. No medication coverage. And for me, it created a familiar caregiver reality; invisible administrative labor that determines whether someone receives life-altering treatment or goes without. The 2019 legislation was a major victory, but it left a pharmacy-sized gap that families like mine are forced to bridge alone. Medications like Radicava can cost thousands of dollars per month. For most families, paying out of pocket is not an option.

So I went back to Google. That is when I discovered Searchlight Support, the official patient assistance program through Mitsubishi Tanabe Pharma America, the manufacturer of Radicava. Their program supports patients who are uninsured or temporarily underinsured, which my mother technically is until her Part D coverage begins.

I had her call immediately. She explained her ALS diagnosis, her approved Medicare status, and the March 1 coverage delay. We asked about emergency bridge medication and enrollment in their Patient Assistance Program for February. They agreed if her neurologist sends the prescription directly to them, they could ship the medication at no cost to cover the gap. Next was a call to Erlanger, and moves were made.

Days like this are brutal. Caregiving often looks like paperwork, phone calls, and advocacy battles no one sees. But my persistence shaved weeks off my mom’s wait time for treatment. That matters, even if only to her.

ALS forces families to learn systems most people never have to understand. It turns daughters into advocates, researchers, and translators of medical language overnight. Yesterday, persistence helped get my mom her medication. Tomorrow will bring a different battle.

If you are walking through ALS as a patient, caregiver, family member, or friend, you do not have to figure this out alone. I am documenting what I learn in real time, the hard lessons, the small victories, and the resources that can make an overwhelming system slightly easier to navigate.

If this post helped you, I invite you to-

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Explore ALS Support Resources
Below are organizations and programs that may help families access care, medication assistance, education, and advocacy support-

• ALS Association – Education, equipment resources, caregiver support, and advocacy
• I AM ALS – Patient navigation, community support, and policy advocacy
• Searchlight Support (Radicava Patient Assistance Program) 1-844-772-4548
• Your local ALS clinic or neurology center - Many offer care coordination and social work support

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ALS can feel isolating because it is rarely visible. Sharing experiences helps families find answers faster and reminds others they are not alone. If you are comfortable sharing your journey, I would be honored to hear from you.

Support ALS Awareness & Research
If you are looking for ways to help, whether through advocacy, volunteering, or supporting community fundraising events, your involvement directly impacts families navigating this disease.

Thank you for being here, for reading, and for helping bring visibility to a disease that too often exists behind closed doors

— Jacqui

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.