San Antonio – If you participated in the viral online Ice Bucket Challenge almost 10 years ago and benefited ALS, you have contributed to another victory for the ALS community.
A few weeks ago, the FDA expeditiously approved a third modern treatment for ALS patients.
For patients like Sarah Wheeler, a full-time nurse in 2018 who loves to travel and be active, this is very important.
Around that time, I started having strange symptoms.
“I had leg cramps and leg pain. I was reaching to put new stuff in the upper cabinets and realized I couldn’t stand on my tiptoes,” she said. “When I started it was my toes evenly on both sides. It started on my toes and my feet and it kind of goes on.
She also has a “foot drop” that causes her legs to drag and trip, so she wears braces to strengthen her legs.
It took Wheeler three years to be formally diagnosed with ALS, a terminal disease with no cure.
“We ended up getting a very good genetic panel that had both my parents on board, and that’s where we found out it was genetic. It was the SOD-1 mutation,” Wheeler said. explained Mr.
Approximately 10% of ALS patients have a genetic disorder. 1% to 2% of that group carry her SOD-1 gene, which is known to cause ALS.
“It really robs them of their ability to breathe, walk, talk and swallow on their own,” said Jill Dalager Brunner, Ph.D., executive of the ALS Association Southwest Territory.
Dalager Brunner said the new treatment just approved by the FDA is a game changer.
The spinal injection, called tofelsen, kills the gene that drives the disease.
Wheeler was unable to participate in the FDA trial of Tofelsen, but was able to begin a year ago under the FDA’s Humane Use Program.
She said the spinal injection treatments are intense and she has to drive three hours each month, but she knows the treatments are working.
“I would wake up and look at my calf and see the dimple where my calf muscle used to be. I don’t have it anymore,” Wheeler said.
She wears leg braces and occasionally uses a cane, walker, or scooter, but I find that it definitely slows progress.
“There are also stories of people starting to regain strength. They’re doing physical therapy,” Dalager Brunner said.
They call it a ray of hope, not just for patients with the SOD-1 gene.
“Gene therapy and genetic research is a good foundation to see where we can grow and improve treatments,” Wheeler said.
“We hope that we can use this therapy to slow the progression of ALS, find a cure for ALS before it is finally diagnosed, or diagnose it early, so that we can isolate this gene.” ‘ said Dalager. Brunner said.
She said it could extend the current life expectancy, which is usually three to five years.
Doctors say anyone diagnosed with ALS should seek genetic testing to see if they have the gene and if they 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 decided: Then her father said, ‘He might have ALS,’ but he also had lung cancer and emphysema, so her muscles could wear out quickly. ”
Dr. Wheeler advises patients to advocate for themselves and hopes the general base of neurologists across the country will learn more about ALS and its causes and treatments.
Both Dalager Brunner and Wheeler stress that patients should avoid Google treatment and instead contact the ALS Association for all information and support.
“Connect with resources. Look for an ALS multidisciplinary clinic. They have a higher quality of life because all practitioners are helping them with things like respiratory therapy, speech therapy, etc. , otherwise I don’t know,” says Dalager Brunner.
To contact the ALS Association Texas Chapter, call 877-714-0088, email firstname.lastname@example.org visit website.
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