SAN ANTONIO – If you participated in the viral online Ice Bucket Challenge almost 10 years ago for ALS, you have played a part in the new victory of the ALS community.
A few weeks ago, the Food and Drug Administration (FDA) accelerated approval of a third recent treatment for ALS patients, originally funded by the Ice Bucket Challenge.
This is very important for patients like Sarah Wheeler, who worked as a full-time nurse in 2018 and loved to travel and lead an active lifestyle.
Around the same time, strange symptoms began.
“I had leg cramps and pain in my legs. I reached out to put new things in the upper cabinets and realized I couldn’t stand on my toes,” she said. “When I started, it was my chicks the same on both sides. It started in my toes and feet and it sort of worked its way up.”
She also has a “drop foot” that causes her legs to drag and possibly trip, so she wears braces to strengthen her legs.
It took Wheeler three years to officially diagnose ALS, an incurable, incurable disease.
“Finally we got a really good genetics panel that both of my parents were in, and that’s where we found out it’s genetics. It was a SOD-1 mutation,” Wheeler explained.
Approximately 10% of ALS patients have a genetic disease. Of this group, 1% to 2% have the SOD-1 gene, which is known to cause ALS.
“Really depriving people of their ability to breathe on their own, walk on their own, talk, swallow,” said Dr. Jill Dalager Brunner, executive director of the ALS Association Southwest Territory.
Dalager Brunner said the new treatment, just approved by the FDA, is a game-changer.
The spinal injection is called topherson, and it kills a gene that causes the disease to progress.
Wheeler was unable to participate in topherson’s trial with the FDA, but was able to start one a year ago as part of the FDA’s charitable use program.
She said that the spinal injection treatment is intense and she has to travel 3 hours to get the procedure done every month, but she can say that the treatment is working.
“I would wake up and look at my calf and see the dimple where my calf used to be. I don’t have it anymore,” Wheeler said.
She wears leg braces and occasionally uses a cane, walker or scooter, but sees a definite slowdown in her progress.
“There are also stories of people who started to get their powers back. They do physical therapy,” Dalager Brunner said.
They call it a beacon of hope not only for SOD-1 patients.
“Genetic drugs and genetic research is a good basis for seeing where we can grow and improve drugs,” Wheeler said.
“We hope to be able to isolate this gene using this therapy to slow the progression of ALS, eventually find a cure for ALS before people are even diagnosed, or diagnose people at an early stage,” Dalager said. Brunner said.
She said it could increase current life expectancy, which is typically between three and five years.
Doctors say anyone diagnosed with ALS should have a genetic test to see if they have the gene and are eligible for this treatment.
“Genetic testing should be your first line of business,” Wheeler said, expressing disappointment that she had not been tested earlier.
When the results came in, her family decided, “Great-great-aunt had ALS. Then my dad said, “Maybe my dad had ALS,” but he also had lung cancer and emphysema, which can lead to rapid wasting of all those muscles.”
Wheeler advises patients to protect themselves and hopes the core base of neurologists across the country will learn more about ALS, its causes and treatments.
Both Dalager Brunner and Wheeler emphasize that patients should avoid searching Google for treatment information and instead seek all information and support from the ALS Association.
Connect to resources. Find a multidisciplinary ALS clinic. People who visit the clinic, usually once a quarter, live about six months longer than people who do not visit the clinic. And they have a higher quality of life because they have physical therapy, OT, nutritionist, respiratory therapy, speech therapy – all these practitioners help them. In addition, they know if there are treatments or drug trials they can participate in that they would not have known about otherwise,” Dalager Brunner said.
To contact the Texas ALS Association, call 877-714-0088 or email [email protected]or visit them Web site.
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