SAN ANTONIO – If you participated in the viral online Ice Bucket Challenge almost 10 years ago, benefitting ALS, you’ve played a part in a new win for the ALS community.
Weeks ago, the FDA fast-tracked approval for the third recent treatment for ALS patients, originally funded with money from the Ice Bucket Challenge.
It’s crucial for patients like Sara Wheeler, who in 2018 was a full-time nurse who loved traveling and being active.
Around that time was when strange symptoms started.
“I was having leg cramps and feet pain. I was reaching up to put new stuff up in the higher cabinets, and I realized I could not stand on my tip-toes,” she said. “When I started, it was my tip-toes equally on both sides. It started in my toes and my feet, and it’s been kind of working its way up.”
She also has a “foot drop,” which causes her feet to drag and possibly trip her, so she wears braces to strengthen her feet.
It took Wheeler three years to officially be diagnosed with ALS, a terminal disease with no cure.
“We finally got a really good genetic panel where both of my parents participated, and that’s where we found it was genetic. It was the SOD-1 mutation,” Wheeler explained.
For about 10% of ALS patients, the disease is genetic. Of that group, 1% to 2% have the SOD-1 gene, which is known to cause ALS.
“Really taking away people’s ability to breathe on their own, walk on their own, speak, swallow,” said Dr. Jill Dalager Brunner, executive for the ALS Association Southwest Territory.
Dalager Brunner said the new treatment just approved by the FDA is game-changing.
The spinal injection is called tofersen, which kills the gene that would progress the disease.
Wheeler wasn’t able to get into the FDA trials for tofersen but was able to start it a year ago under the FDA’s compassionate use program.
She said the spinal injection treatment is intense, and she has to drive 3 hours to get the procedure done each month, but she can tell the treatment is working.
“I would wake up, and I looked at my calf and see an indention of where my calf muscle used to be. I don’t have that anymore,” Wheeler said.
She wears leg braces and uses a cane, walker, or scooter at times but sees a definite slowing of her progression.
“There’s also stories of people starting to get their strength back. They’re doing physical therapy,” Dalager Brunner said.
They call it a beacon of hope, not just for patients with the SOD-1 gene.
“The genetic medication and the genetic studies, it’s a good foundation to see where we could grow and improve on medications,” Wheeler said.
“We’re hoping by being able to isolate this gene by being able to utilize this therapy to slow down the progression of ALS, to eventually find a cure for ALS before people are even diagnosed with it, or to diagnose people early,” Dalager Brunner said.
She said it could extend the current life expectancy, which is typically three to five years.
Doctors say anyone diagnosed with ALS should ask for a genetic test to see if they have the gene and are eligible for this treatment.
“Genetic testing should be your first go-to,” Wheeler said, expressing frustration that she wasn’t tested sooner.
When the results came back, her family determined, “It was a great-great aunt that had ALS. Then my dad said, ‘Maybe my dad had ALS,’ but he also had lung cancer and emphysema, which can cause all that muscle wasting quickly.”
Wheeler advises patients to advocate for themselves and hopes the general base of neurologists nationwide will learn more about ALS and its causes and treatments.
Both Dalager Brunner and Wheeler stress that patients should avoid Googling treatments and instead contact the ALS Association for all information and support.
“Get connected with the resources. Find an ALS multidisciplinary clinic. People who attend a clinic, usually quarterly, live about six months longer than people who don’t attend a clinic. And they have a higher quality of life because they have PT, OT, nutritionist, respiratory, speech therapy -- all of these practitioners helping them. Also that they’re aware if there’s a treatment or drug trial that they can participate in that they otherwise wouldn’t know about,” Dalager Brunner said.