‘What’s next’ for ALS
Without a voice, but not voiceless. A unified patient voice demands change towards progress
WAUSAU, Wis. (WSAW) - The Ice Bucket Challenge, the viral call-to-action trend to help raise money for Lou Gerhig’s Disease that was started by a patient, Pat Quinn in 2014, is often all that people know about Amyotrophic Lateral Sclerosis, or ALS.
Garett Smith was one of the millions of people who took part in the challenge and that is about all he knew about the disease, until June 2, 2017.
“He was starting to slur his speech and choking randomly. So, we took him to an EMT and they said, well maybe it’s acid reflux,” his wife, Jennifer Smith recalled.
The medications did not make his condition better. His foot began to drop and he was constantly tripping. His upper body muscles twitched.
“His tongue looked like a puppy stuck in a sleeping bag,” she described, “It was kind of creepy.”
He went in again, going through a week’s worth of testing. One of his doctors asked if he had ever heard of ALS. On June 30, 2017, at the age of 43 with three kids ages 4, 6, and 8, bulbar onset ALS was his diagnosis.
“You’ve got 6-18 months to live. Get your affairs in order and enjoy your life,” they were told by doctors. “It shut us down. It shut us down.”
ALS is a neurodegenerative disease that impacts the nerve cells in the brain and spinal cord that talk to the voluntary muscles, like the muscles in the arms, legs, and diaphragm. There is no one test for it, though an electromyography test or EMG is typically done. Doctors must rule out other possibilities, so it can take weeks, months, or years to diagnose.
There is no cure. Patients typically live two-five years after diagnosis, though people can have shorter or longer lifespans.
It is not yet known what causes ALS, but research suggests it is a mix of genetic and environmental factors. About 90% of patients, like Garrett Smith, have no family history. Compared to civilians, veterans, also like Garrett Smith who served in Iraq and Afghanistan, are twice as likely to be diagnosed regardless of combat experience.
A radical change
The disease radically changed the Smiths’ very active lives. Thanks to Garrett Smith’s military service, the family lived in several different parts of the country that were often great for outdoor activities like hiking. After the diagnosis, they moved to Woodruff to be closer to family, and their lives have become increasingly stagnant. Jennifer Smith said the pandemic gave the world a taste of the isolation and challenges of leaving home they experience due to the disease.
“We had a lot of scares where I’d have to take Garrett to the ER and the kids would wake up and not even know that I was gone all night. I mean that happened quite often,” she said, adding that having family down the road to help was crucial.
Garrett Smith stays at facilities with round-the-clock care after his progression went beyond what his wife could handle herself, on top of keeping a job and parenting their kids. At the time of the interview, he was being cared for at Mount View Care Center in Wausau. He transferred back to the Veteran Affairs Medical Center in Milwaukee for care purposes, though he is hoping to transfer back to Wausau because he misses being able to see his family more regularly.
However, the Navy Seabee is stubborn. Four years after his diagnosis Garrett Smith and his family are still fighting and Garrett is still his spunky, outgoing self. His dog, Louie, named for the disease, is just as sassy. Garrett Smith wanted to have a dog in his lap when he had to go into a wheelchair, not only for companionship but also to make him more approachable to people.
“He went two years before he was officially sitting in the wheelchair,” Jennifer Smith said. “He was three years before he was even trying the feeding tube, I mean he enjoyed his life as long as he could.”
He can no longer speak and has a tracheotomy. He barely can move his arms or legs, which his wife describes as more like a spasm. They say they are very fortunate for the type of access to medical equipment and treatment due to his military service. He has some of the latest technology, like eye-tracking technology that allows him to type on a tablet situated in front of him that tracks his eye movement in order to type, surf the web, or move his wheelchair. He can make it dictate what he types too. His kids say he can also turn the internet and lights in their home on and off with his technology.
He said his wife is amazing and he understands the need for him to live in a full-time care facility. He does not mind and enjoys meeting patients and especially advocating for veterans. It also allowed Jennifer Smith to be able to focus more on their children.
The family stays positive, with good days and bad days, however, their children definitely feel the impact of it all. Jennifer Smith said each of them handles it differently.
“Me and the kids, we sit down with my cup of coffee and we talk about, OK, how are you accepting this? What do you have questions about? What’s OK and what’s not OK? And that’s definitely helped a lot with bridging the changes that most kids don’t see every day,” she said. “I’m hoping that this will make them far more resilient.”
The most important lesson Jennifer Smith said she has learned through patient and family support groups is that while the diagnosis is a death sentence at this point, it is also a license to live.
“It’s not a ‘why me?’ it’s ‘what’s next?’ You can’t change it. He can’t take it away,” she stated. “If your timeline is a timeline that you see an end near, you have the opportunity to go out and have a bucket list or make somebody else’s day better or, you know, make more friends. I mean, it’s an endless opportunity to be a human while you still can be... There’s a lot of bad with it. There’s a lot of broken, but there’s also pieces that aren’t broken, so they (good days) do come.”
Desperate to survive
“We hope that you can survive ALS for a long time,” Gracelyn Smith said as a message to her father. Her mother added, “So he can watch you grow up?” She nodded.
That is the call from ALS patients everywhere. Currently, there are only two fully approved drugs in the U.S. that help to extend the lives of some patients. Dr. Michael Hansen, a neurologist at the Madison VA Medical Center and UW Health said there are not any perfect treatments yet.
“We know that these medications do have some benefit when we use them in large numbers of people, but on an individual basis, especially because the disease is different in everyone, it can be hard to know if they’re having any effect.”
He sets aside roughly two hours when meeting with patients to discuss realities like that. If those treatments do not work to slow the patient’s progression, the next best thing is for patients to enroll in a clinical trial. However, many patients do not qualify for several reasons, so patients also look at experimental treatment available through the expanded access program, but that is also not always accessible.
“These people are going to other countries and spending obscene amounts of money to do it (gain access to treatment) and there’s no even proof that it’s being what it’s told to them as this,” Jennifer Smith said about how desperate patients are to find any treatment. “So, if there was something in our country that could help them and give them more hope... I mean isn’t that what our country is all about?”
That is something that Dr. Hansen cautions to his patients as some pharmaceutical companies take advantage of people’s desperation.
“I have seen a lot of patients kind of bankrupt themselves financially doing things that I think don’t have a great evidence base and it can be heartbreaking for them to spend the money but also spend the time,” he said.
“We are at an exciting moment where there are therapies in the pipeline, but they’re just beyond our grasp because they’re being stalled in approval processes that need to be expedited,” Sandra Abrevaya said.
She and her husband, Brian Wallach, founded the patient advocacy organization, I AM ALS in 2017 after Wallach was diagnosed with the disease at age 37. The couple met while campaigning for the Obama presidency. After his diagnosis, they felt patients’ voices were not being heard at the highest levels to create the change necessary to make progress on treating and ultimately curing the disease. They began doing their research and going before Congress.
In a Congressional hearing about neurodegenerative diseases this summer, they and others impacted laid out what the roadblocks are to representatives.
“Please do not let another generation of ALS patients die in pursuit of the perfect. Please, let this be the first generation to survive,” Abrevaya pleaded in their testimony.
The hearing also was attended by the Food and Drug Administration and National Institutes of Health who testified and were grilled by representatives about how the research process works, and how they can bring more treatment to more patients.
Abrevaya said the timeline ALS provides causes most patients and families to have a higher tolerance for risk when it comes to experimental treatment. Dr. Patrizia Cavazzoni with the FDA said they do take neurodegenerative patients’ higher tolerance into consideration when determining whether to approve a drug as well as when working with drug developers to design clinical trials. However, she explained that due to the complexity of a disease like ALS, they are often presented with data that is not sufficient enough to give a drug full approval. She also cited the lack of biomarkers for diseases like ALS, which she said would allow drug developers to precisely target by design.
However, Abrevaya said in their testimony that the FDA does not require a disease to have specific biomarkers or for drug developers to target biomarkers in order to approve a drug whether through the normal processes or expeditiously. She gave the example of a drug called AMX. In the clinical trials, she said patients seemed to extend their lifespan six months beyond those who took the placebo treatment.
“Interestingly, AMX is headed for speedy approval in Canada and Europe and it’s based on the very same data that the FDA had a year ago,” she stated.
Last month, the pharmaceutical company announced it was going to apply for full approval through the FDA. Patients are urging it to approve the treatment.
“When an individual has that death sentence, I believe they should have access to drugs that show promise,” Garrett Smith said.
Some of the other roadblocks mentioned in the hearing included creating better access for patients to physically be able to participate in clinical trials, as in addressing the costs of travel. Or, helping to have more trials able to be done remotely, though that poses other challenges, like doctors who need multiple licenses to practice medicine in multiple states.
Getting patients access to experimental treatments when they do not qualify for clinical trials is also on the list, along with expanding the eligibility of clinical trials themselves.
The FDA and NIH explained the reason researchers and pharmaceutical companies are often so restrictive when it comes to who can be included in a clinical trial is because of the concern that patients in later stages of ALS will not be able to show measurable improvements with the use of the experimental drug.
“For many of us like Brian,” Abrevaya explained, “he can’t participate in a clinical trial because he’s more than 18 months into his diagnosis, which excludes him from most clinical trials. And so, for someone like Brian, one of the only avenues to getting access to a drug, other than full FDA approval, is the expanded access program.”
While Dr. Cavazzoni said the FDA approves about 98% of patients’ requests for expanded access, many patients still cannot receive it because they are not allowed to then enroll in a clinical trial. It is often not covered under patients’ insurance either, and paying for the treatments can drain patients’ bank accounts. The FDA noted that many of the companies trialing ALS drugs also are smaller, and do not have the production size or the financial ability to expand the access to their experimental drug. With that, NIH and FDA also noted the concern that making expanded access more accessible would impact researchers’ ability to get patients into trials.
Abrevaya said that is not the case, and many patients will die before they can get to participate in a trial, or they are already unqualified due to their progression. She challenged the agencies, researchers, and pharmaceutical companies to think about research differently. That could mean conducting research with patients who are being treated with multiple drugs already because they do not have enough time to continuously try different drugs. She and others argued that the longer they live, the more research can be done to ultimately make ALS a chronic, rather than a terminal disease.
“I mean, if they could have a cure in their lifetime, imagine how they would see that connection, that legacy from their dad’s efforts. So, that’s a big thing. It’s maybe not what could happen now, but what could happen next,” Jennifer Smith concluded.
Currently, a bill in Congress, AACT for ALS would support some of the gaps in expanded access and help fund research. Roughly 75% of all House members are co-sponsors of the bill, including Rep. Tom Tiffany (R-WI) and Rep. Ron Kind (D-WI). It would still need more support in the Senate and patients are hoping it would pass this session, noting they do not have time to wait for the next session. The Promising Pathways Act would also allow conditional approval to therapies showing promise that are in the second phase of clinical trials for diseases like and beyond ALS.
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