Beyond the Ice Bucket Challenge: Patients Fight for New ALS Therapies

When a child blows on a dandelion making a wish, they do so with the hope that their wish will be granted. The innocence of this wish can also reflect the deepest desires in their hearts.

Matt Bellina, a 32-year-old Navy veteran living with amyotrophic lateral sclerosis (ALS), one day discovered what his 4-year-old son hoped for after Bellina noticed a dandelion in the grasp of his son’s tiny fingers.

“My older son knows that I can’t run with him,” Bellina said. “The other day he picked up a dandelion and blew on it. I said, ‘What did you wish for JP?’ (Bellina's son said) ‘I wished that you could play football with me.’’

The selflessness and purity of his son’s wish served to further reinforce Bellina in his fight against ALS.

“My youngest has no idea at all, but my older one knows,” Bellina said. “It makes me feel determined to beat it. It makes me feel like I want to fight this thing savagely. I don’t really mind being sick or what it’s taken from me. I’ve had a pretty good run, but I’m so angry about what it’s doing to my kids. For them, that gets me out of bed and makes me want to destroy this thing. I can’t help but think about other parents and other kids who go through this same thing. I think ‘No, we’re not going to keep doing this.’”

ALS is a neurodegenerative disease that affects the nerve cells in the brain and spinal cord. Motor neurons begin to die off, leading to the atrophy of muscles. Although patients have fully functioning brains, they will eventually lose their ability to walk, speak, swallow, and breathe.

It was only a year after joining the Navy in 2005 that Bellina started experiencing the first symptoms of ALS. Although he was experiencing muscle twitches in his arms, also called fasciculation, Bellina didn’t think too much of it because there are a number of reasons why people experience these muscle twitches.

However, it wasn’t until 2009 when Bellina was medically grounded for clumsiness in his hands and issues with his balance that he realized there could potentially be something more serious going on.

“I saw a doctor because I was a pilot at the time. They told me ‘you know, we don’t really know what is wrong with you, but you really shouldn’t fly anymore.’ So I stopped flying.”

The New Jersey-native and Pennsylvania resident had heard of ALS before as a Yankees fan and knowing about Lou Gehrig, for whom the disease is most frequently associated with, but he didn’t know that much about what ALS actually was.

After Bellina was medically grounded, his symptoms seemed to plateau. But by 2012, Bellina had done his research and all signs pointed to ALS.

“By then I knew,” he said. “The funny thing is I was at the neurologist in November 2012 getting an EMG and I’m like ‘I know this is ALS, I know what it is, I have the symptoms.’ They said, ‘well let’s just wait and see.’ I went to the Mayo clinic and they said the same thing. Then finally in 2014 they were like ‘yeah, you have ALS.’”

ALS can be difficult to diagnosis because there is no definitive test that can determine if a patient truly does have the disease. Physicians can perform a variety of diagnostic tests that rule out other diseases and illnesses that mimic ALS. They can also examine symptom progression before concluding what they have.

When a patient receives a diagnosis of ALS, it can be devastating for them and their families.

“When I figured out I had ALS, I was pretty bummed because I had a 1-year-old son at home and I thought probably another one on the way,” Bellina said. “It turns out I did, so it was a downer. Just thinking about the kids and my wife, I felt bad for them. But then I realized pretty quickly that I had this for a really long time, so there is no reason for me to think I’m going to be dead in 2 years. I just thought about that and carried on.”

Unfortunately, ALS is a ruthless disease that is fatal and has no known cure at this time. Since it is an incurable disease, treatment options are ultimately non-existent.

“There really isn’t anything they can do,” Bellina said. “They tell you to get your affairs in order, make a will, that type of stuff.”

Despite the unfortunate diagnosis of a life-threating disease, there is still an inspiring mixture of unmistakable happiness, positivity, and determination in Bellina’s voice. Perhaps it comes down to his military background that fuels his drive and perseverance, or it’s simply a part of Bellina that has always been imbedded in his core.

Either way, as soon as he realized that he most likely had ALS, he didn’t wait around for his official diagnosis, which wouldn’t actually come until April 2014.

“About a year before I was diagnosed, I reached out to the ALS Therapy Development Institute (ALS TDI) and started collaborating with them,” Bellina said. “The day I got diagnosed I was on the phone with them and they asked me to come up there, so I did. They enrolled me in their Precision Medicine Program and since then a lot has happened with that. There is a lot of hope there.”

ALS TDI is a nonprofit biotech that actively looks to discover and develop new treatments for those living with ALS. The group operates the Precision Medicine Program, which was funded entirely from the money raised during the ALS ice bucket challenge in 2014.

“The study I’m in right now is completely funded by ice bucket money,” Bellina said. “I wouldn’t know my mutation if it wasn’t for the ice bucket challenge. I’m pretty pumped about that, so it helps.”

According to ALS TDI, the Precision Medicine Program was created to identify subtypes of ALS and specific compounds that treat each type.

The study, which holds 300 spots currently, has 245 patients enrolled with 17 scheduled for enrollment. Their goal is to tailor treatments to individual patients and find a cure. The first step in achieving this goal has been collecting tissue samples for further testing and examination.

When Bellina became a part of the study, they took a biopsy of his arm to grow and clone his cells. Every month he has to wear an accelerometer that provides researchers with data on his day-to-day progression.

“Right now, they’re trying really hard to find something that binds to the receptor that’s mutated in me, so it’s very personalized medicine,” Bellina said. “It’s specific to me and to the other 300 people in the trial. I think generally we’ve realized you can’t come up with a one-size fits all drug for a heterogeneous disease. What they’re realizing now is, why don’t we look at each person as an individual? Find out what’s wrong with that person, figure out why they have ALS, and try to come up with an individual treatment for that person.”

Currently, the program has built stalks (fibroblasts), which are fake neurons of Bellina, and use these for testing.

“They took my skin cells and reengineered them in into what they call induced pluripotent stem cells and they’re studying our cell line looking for any kind of mutations that are prevalent,” Bellina said. “Even though I’m not familial — I don’t have gene mutation in my family – it turns out I actually am what they call homozygous for single nucleotide polymorphisms, which means I picked up a mutation. One from my mom and 1 from my dad, that both would have made me susceptible to ALS.”

Researchers are currently building a knockout mouse modeled after patients in the program to mimic their mutations for drug testing.

“The hope is that you find everybody that has the same type of ALS that I do and then give them that protocol,” Bellina said. “Say you have a fast progressing form of ALS, you find those people and find a drug that works in them based on the study. That’s what they’re trying to do. I think that’s going to be the change, that’s what will make a difference.”

What is interesting about this particular study is that patients aren’t left wondering what is happening in the labs. Thanks to a portal that was created, patients can log on and see everything that occurs in the lab and enables them to communicate with researchers.

“They’re super excited about it because my mutation is actually a cell receptor, so it’s outside the cell, which makes it really easy to find a small molecule to bind to it. They’re pretty hopeful,” Bellina said.

Although some studies may have a time frame to perform experiments, this is not the case with the Precision Medical Program.

“They’re going to keep doing it until they find a cure,” Bellina said. “They’re going to keep testing compounds, probably about 50,000 compounds a year, until they cure ALS.”

The researchers are able to make billions of copies of a patient’s cells, which allows them to test different treatments in the laboratory setting to determine how it may perform on an individual basis.

If researchers are able to find a cure for the different types of ALS, they plan to move onto Alzheimer’s disease.

“I really cannot express how much hope there is in precision medicine overall. Not just talking about that one lab, but the practice in and of itself I think is a big deal.” Bellina said. “It’s the best shot because it’s personalized medicine, they need to keep looking at people as separate cases. People are going to know it in 10 years, but they’ll know it quicker if the money gets there quicker.”

Outside of the research that is being done today, Bellina has become part of the ALS community online, through forums on ALS.net, where patients are constantly sharing information, and Facebook groups like Hope NOW for ALS.

“I do a lot on Facebook, we network on there,” Bellina said. “The nice thing about ALS.net is when someone is newly diagnosed and needs help, they can network us. If there is somebody that is similar to me, like a young father or another veteran, they’ll ask if they can call me to talk.”

Patients will also report all day on the forum about what they’ve tried and what has or hasn’t worked for them.

“There were some supplements that people have recommended that I think absolutely help. The antioxidant supplement acetyl-L-carnitine is hands down one of the things that generally everyone agrees has some sort of positive impact,” Bellina said.

The first thing Bellina would do if he was cured, depending on how fast, would be to run up a mountain. His long-term goal would be to continue helping people.

“One thing about having ALS is you see so many people doing so many good things,” Bellina said. “I think there is a part of me that wishes I had done more of that when I was healthy, now that I’m on the receiving end. I did do things, I went to fundraisers and stuff like that, but I don’t feel like I really gave all of myself like I could have.

“Now that I’ve seen people do it for me, I want to give back. I want to go help people. When I’m healthy, I’m going to spend the rest of my life doing that because I’ve seen the impact it can make on a family.”

Bellina has already executed his dream in helping others fight for a cure. He is involved in numerous charities, started a change.org petition, and helped raise nearly $200,000 for ALS.

“We do Augie’s Quest,” he said. “I really like that one because he’s the president (chairman) of the board at ALS TDI and has ALS. So you know it’s in his best interest and that the money is spent well. Here at my gym, at the Newtown Athletic Club, we do a fundraiser every year now, we raise for Augie’s Quest. I think we raised $180,000 last year, this year we are shooting for $200,000.”

Bellina also started a petition for the FDA to grant accelerated approval to the drug GM604, manufactured by Genervon. Currently, a drug called riluzole (Rilutek) is the only treatment option for ALS patients in the United States. This treatment was approved more than 20 years ago, meaning there has been no other drugs approved since then.

Rilutek has been found to prolong life by just a few months, which although it’s a step in the right direction, is not nearly enough. For Bellina, he only took Rilutek for a short period of time before going off of it completely. The tradeoff wasn’t worth it, because the drug made him feel lousy and have zero energy.

Although Bellina did not know a lot about GM604, he believes strongly in the right for ALS patients to at least try it.

“To be honest, I don’t really know anything about that drug (GM604) or if it would be remotely helpful,” he admitted. “The reason I was on the change.org petition was because I believed in the patients’ right to try it. The patients are smart enough to read into things, and as long as the company’s being honest about the potential, why won’t you just let us try it? I think it’s ridiculous that the FDA doesn’t let us.”

Despite over a million signatures, nothing happened and the FDA did not grant approval. Researchers now are required to go through a phase 3 trial, but lack the funds that are necessary. Since the drug has been approved in other countries, they are hoping to sell it overseas and use the money to bring it to a trial in the United States.

Recently it has been reported that a clinical trial for an ALS treatment conducted in Israel showed promise among several of the test patients. The trial collected stem cells from a patient’s own bone marrow, treated it, and injected it back into the spinal fluid.

Bellina feels that while this could help some patients, it won’t help all.

“I think that ALS is not a homogenous disease,” he said. “I think there’s a lot of different kinds of ALS and I think it’s probably going to help some people, but not everyone. It might make a dent for some, it might do nothing for others, but the point is you should be allowed to try it.”

Although this particular clinical trial had promising results and there are still other trials patients can enroll in, Bellina does not have that luxury.

“The trial is in phase 2 in America, but I’ve had this disease for too long, so I wouldn’t be able to get into it. I can’t get into any of them. The day I was diagnosed I had had it too long, so there was never a chance for me to get into a trial,” he noted.

Following the massive success of the ice bucket challenges, an ongoing debate has surrounded whether monetary donations should be mostly used for patient care or research. Bellina said he can see the importance of each side.

“There is a big back-and-forth about which one is more important and I see both sides of it,” Bellina said. “I’m so hopeful, and because I’m young, I would rather see the money go to research but that’s because of the position I’m in. I get why people feel differently. I get why people want to just be made comfortable. I can understand that.”

Bellina gets help with his disease from the United States Department of Veterans Affairs (VA). They provide support to patients because they recognize ALS as being a service-connected disease, since veterans are twice as likely to get ALS.

Although the reason for this is unknown, Bellina believes it could have something to with a combination of inflammation, stress, depletion of trace ions, environmental toxins, and genetic susceptibility.

Although much help hasn’t been needed yet, the VA is working on making Bellina’s house more accessible. If the VA weren’t taking care of him, Bellina thinks that maybe he would feel differently about where the majority of the funds should go.

“A lot of people dog on the ALS Association for not putting enough money into research, but there are people who would be totally screwed without them,” he said. “If the ALS Association ever asked me to go to a fundraiser to help out, totally. Even though I’m in a position where I don’t really need to rely on them because of the VA, I have a lot of friends who need ramps in their houses. I have a lot of friends who need in-home care who aren’t going to get it without them. But when I fundraise, my priority is in research. So I see the value in both.”

Today, the disease has had a slow progression for Bellina. He is still able to walk around, stand, and workout at the gym. Although he has not yet been confined to a wheelchair, Bellina still experiences difficulties.

“My legs are really stiff and clumsy, but some days are better than others,” Bellina explained. “But I feel like the last couple weeks they’ve gotten better. The muscles in my hands are wasted, but that’s about it. I can still pick up my kids. I try not to lift more than 50 pounds because it’s hard. JP is about 50 pounds and I can pick him up, it’s crazy.”

Even though his disease progression has been slow, managing ALS has still been a challenging road for Bellina’s family.

“It’s pretty hard on them, my wife basically has to do everything,” Bellina said. “We have a 2- and a 4-year-old, so she’s doing all the work around the house. She’s pretty run down. My parents, they live kind of far away, so they try and come down as much as they can. It’s hard on everybody. It’s probably harder on them than it is on me to be honest.”

Bellina’s advice for those who are newly diagnosed is to be cautious with physician’s predictions.

“I’d tell them don’t listen to anything the doctor says on prognosis because they have no idea,” Bellina said. “It could be 2 weeks or it could be 30 years, they don’t know. So don’t worry about what they say, don’t think about dying. Just keep hope alive, because we are going to beat it.”

His hope for the future of ALS, besides an obvious cure, is to see less new diagnoses of ALS.

“It’s kind of heartbreaking and it seems like it’s increasing, especially in young people,” he said. “There are so many young veterans now, and veterans make up a pretty good chunk of the population.”

For Bellina, he sees a bright future for ALS patients and is holding out hope that a cure will soon be found.

“It’s going to happen,” he stated. “You know how you can tell when something (is going to happen), like a tipping point? That’s kind of how I feel right now. I don’t know how it’s going to happen, but I feel like everything is coming together. Four years ago when I started reading about ALS I thought, ‘There is nothing, we’re screwed,’ I don’t feel that way anymore. ALS has become a thing, and once that happens, things change.”