A Different Future with ALS: April's Story of Hope and Resilience

Most cases of ALS occur without a known cause. But about 10% are inherited and linked to genetic mutations passed through families. April has one of these rare inherited forms of ALS, caused by a mutation in a gene called SOD1.

For years, scientists at Emory worked to understand why mutations in the SOD1 gene cause ALS. Researchers studied the disease in the laboratory, developed animal models and helped identify ways to interrupt the toxic process damaging nerve cells.

That research eventually helped lead to tofersen (Qalsody®), a gene-targeted therapy designed specifically for people with SOD1-related ALS.

Emory’s involvement did not stop in the laboratory. The Emory ALS Center participated in the drug’s early clinical trials, helping researchers determine whether the treatment was safe and effective. By the time the FDA approved tofersen in 2023, Emory clinicians already had years of experience administering the therapy.

“Emory’s involvement is in the whole pipeline,” Dr. Fournier says, “from those very early discoveries in the lab to actually getting new treatments into people with ALS.”

That readiness made a critical difference for April.

As soon as she received her diagnosis, she was able to begin treatment.

Once a month, April travels to Emory for treatment.

The medication is delivered through a spinal tap — something she never imagined she would willingly undergo. “I’ve always been scared of needles,” she says with a laugh.

But for her, the treatment represents something much bigger than a monthly procedure.

It represents time. Hope. Possibility.

When people receive an ALS diagnosis, they are often told to focus on enjoying time with loved ones because the disease is expected to progress, diminishing their quality of life.

Thanks to this breakthrough treatment for SOD1-related ALS, April's future does not look like that of a typical ALS patient.

Today, she remains remarkably stable. She still walks independently. She continues to enjoy time with her family.

And months after starting treatment, her symptoms have not significantly progressed.

“She doesn’t look any different than when her very first symptoms started,” Dr. Fournier says. “She’s still enjoying her kids, enjoying her family and doing the things she loves.”

For a disease like ALS, that outcome is extraordinary.

At the Emory ALS Center, patients receive far more than medical treatment.

During a single visit, they can meet with neurologists, physical therapists, occupational therapists, speech-language pathologists, dietitians, research coordinators and social workers.

The goal is to address every aspect of living with ALS.

“We provide a one-stop shop,” Dr. Fournier says. “Everyone works together to build a comprehensive treatment plan.”

For patient coordinator Tamisha Mensah, who often serves as the first point of contact for patients worried they may have ALS, the work is deeply personal.

“Our patients are mothers, fathers, sisters and brothers,” she says. “They’re everyday people whose lives have changed in the blink of an eye.”

Mensah has watched the center evolve as research breakthroughs have become real treatments.

Seeing patients like April thrive has been especially meaningful.

“It’s exciting,” she says. “We’re seeing patients get better with time. We’re seeing hope.”

Living with ALS is not easy.

April says every day brings a new adjustment. Walking is different. Writing is harder. Buttoning clothes takes more effort. Holding a toothbrush can become a challenge.

But she refuses to let the disease define her.

“Every day you’re waking up determined,” she says. “You have two options: kick ALS in the butt or die trying.”

That determination is one reason her care team admires her so much.

“April is one tough and resilient person,” Dr. Fournier says. “She comes with a smile on her face every month.”