This woman suffers from ALS. This is also the case for 22 of his relatives. What she wants you to know.

Jessica MorrisThe knee began to deform in March 2022 while she was playing with her daughter at the park. “Well, that’s a bit strange,” she thought. Maybe she needed to increase her exercise routine. But when her symptoms intensified, the day she dreaded arrived: a visit to her family’s neurologist at Northwestern University.

A genetic test confirmed it the following October: Morris had ALS – as did 22 other people in his family with the hereditary SOD1 ALS gene. ALS is short for amyotrophic lateral sclerosis, a terminal neurodegenerative disease that you may know as Lou Gehrig’s disease. In December, she needed a folding mechanical wheelchair and had to climb the stairs to her room.

“At that point we knew what we were dealing with,” says the 36-year-old from a small farming community in Illinois. When she was 6, her father died in August 1994, in his early 30s, after a nearly year-long battle with ALS. Nearly 5,000 new patients are diagnosed with ALS each year, according to the CDC. May is ALS Awareness Month.

Devastated by her diagnosis, she began thinking about her near-term future, including a Disney cruise with her husband and their three adopted children. As her husband said, “We don’t have to live with ALS every day. You have ALS, but you don’t have to live with it every day. “And we really stayed true to that. And maybe it won’t work for everyone, but for us it does.

But, as Morris’ doctor said, “this isn’t your dad’s ALS.” Treatments, studies and research are giving patients hope in 2024. And for the 2% of patients with the SOD1 gene, a new drug – Qalsody (tofersen) – offers more hope than ever. It actually slows the disease in some people like Morris and, anecdotally, may even improve them.

“It’s extraordinary, because most people in this field never believed we could do this,” says Duke University neurologist Dr. Richard Bedlack, director of the Duke ALS Clinic. “They thought the best we could do was slow the disease. But now it’s clear that this disease can be stopped, or even reversed, if we hit the right target.”

“Your leg is stronger than when you started”

After Morris began receiving monthly Qalsody injections in December, she was climbing stairs again by May last year. Today, she no longer uses a wheelchair at all. She didn’t even need it on that Disney cruise and climbed a ladder in the middle of the ocean with her kids.

Her doctor was stunned: “She even said, ‘Your leg is stronger than when it started.’ Which is just incredible.” So do his nurses: “They see all these ALS patients without a positive prognosis. So it’s nice to see someone who’s improving and getting better.”

People rarely associate ALS patients with such marked improvements; it is in a category similar to Alzheimer’s disease, Parkinson’s disease and Huntington’s disease, according to Dr. Jonathan Glass, director of the Emory ALS Center. The average age of onset is around 60 years and some also receive a concomitant diagnosis of frontotemporal dementia.

It presents differently in all patients, although it usually manifests as weakness in the hands and feet. About a third of people start out with speech difficulties and have difficulty swallowing, and a small percentage have difficulty breathing. Patients eventually die from ALS because they can no longer breathe.

The prognosis also varies. You’ll probably live about three to five years longer once you’re diagnosed, but some live more than seven years and others live decades. Yet some still don’t live to be two years old, like Morris’ father.

Of course, Morris is still struggling. “I’m not trying to say I don’t have limits because I do,” Morris says. “I walk with a cane. Uneven surfaces are not good for me. I don’t walk on my lawn, for fear of a hole or something. But otherwise, I’m so much more independent. I went to Walmart and Aldi the other day and I walked through them both on my own This is huge for me.

Learn more about ALS: What is ALS, this rare disease that makes it “impossible” for Roberta Flack to sing?

How is ALS treated?

Typically, several medications treat ALS, including riluzole, which can increase life expectancy by 25%. Doctors may also prescribe medications to treat symptoms such as leg swelling, fatigue, and depression.

Additionally, “we now have fantastic wheelchairs that can be moved with just a movement of the head,” Glass says, adding, however, that “we can’t stop the disease at this point.”

The only exception to this? Qalsody, but only for that small percentage with the SOD1 gene.

ALS specialists remain hopeful for further advances: “Everything we try is just a little more likely to succeed than what we did a year ago or a little further back,” says Dr. Bjorn Oskarsson, director of the Center of Excellence for ALS. at the Mayo Clinic in Jacksonville, Florida. The 2014 Ice Bucket Challenge galvanized awareness across the country, leading to research grants; Pharmaceutical companies also realized there was money to be made in drugs for rare diseases, according to Dr Shafeeq Ladha, a neurologist and professor in the department of neurology at the Barrow Neurological Institute.

“We’re talking about saving my life.”

Only 10% of ALS cases are familial. It is also sporadic. In Morris’ case, 22 people in his family (including first cousins, etc.) have the SOD1 gene; you have a 50% chance of having the gene if one of your parents does. Morris is one of six people in her family currently receiving treatment.

Although 22 seems like a lot, it seems about right for people with a genetic form of ALS. “If you carry one of these highly pathogenic mutations, you probably have 22 people in your family who have had it,” Glass says. “But you just don’t know that.”

Morris recommends talking to your doctor to see if genetic testing is right for you if you have something like ALS in your history. But she knows that not everyone wants the burden of experiencing a life-changing terminal diagnosis.

Today, Morris’ optimism shines through a video call as she remembers her doctor’s words: “She’s hoping for a future where we’re not talking about making me live longer or extending my life, we’re talking about saving my life.”

This article originally appeared on USA TODAY: ALS Disease Symptoms: What This Improving Patient Wants You to Know