In a house in southern Sioux Falls, South Dakota, a petite dark-haired teenage girl sits casually on a couch, eagerly describing her summer job. Her exuberant dog, Lucca, fills the space between her and her dad, who is patient but ready to turn to a more serious topic: the girl’s rare disease.
Several miles away in northeastern Sioux Falls, an immense warehouse provides generous space for a maze of science labs separated only by cabinets and equipment. A molecular toxicologist who oversees one of these research labs once assumed he’d only ever know patients by their anonymous cells.
In family or in work, you can envision a plan you intend to follow, only to suddenly find yourself walking an entirely different one. This change in direction can derail dreams and disrupt plans, but it can also lead to a strong sense of purpose. In this case, this purpose built a brotherhood between two men who used to be strangers.
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Normal childhood disrupted
Raena Brendtro is a bright, talkative, well-adjusted first-year college student who made the fall dean’s list. She’s passionate — “super eco freak” passionate, actually — about protecting the Earth. And a passion for theater unites her core group of friends.
But as she tried to choose a college, Raena had a lot more to consider about the campus than most students. How flat is the landscape? How cold is the climate? Are snow and ice possible?
These questions matter a lot to someone with nerves sensitive to frigid winters who would rely on an adult trike and walker to get to classes. These questions matter a lot to someone with Friedreich’s ataxia. (She chose Augustana University in her hometown of Sioux Falls.)
Questions like these had no bearing on Raena’s childhood. “I used to be an athlete as a kid,” she said, with references to a bike and trampoline. She had played softball, basketball and soccer, and was a gifted dancer, too.
Friedreich’s ataxia (FA), a rare genetic disease that causes damage to the nervous system and worsens over time, typically doesn’t intrude on the very young. Symptoms affecting movement usually appear between ages 5 and 15, according to the National Institutes of Health (NIH). Speaking difficulties can occur, too.
Currently, no treatment exists to slow, stop or reverse the disease’s progression, which can vary among patients. Problems with dexterity and walking increase to the point where a wheelchair is eventually required. In addition to nerve cells, FA can affect heart cells, causing symptoms of heart disease. It can also lead to diabetes. Eventually, patients may become incapacitated, according to the NIH, and have a shortened life expectancy.
Diagnosis at age 12
Raena’s family hadn’t noticed any symptoms before she had a checkup with her Sanford Health pediatrician at age 12. But the pediatrician was concerned about a subtle irregularity he’d seen while watching her walk and turn. He referred her to a neurologist. After the neurology appointment, genetic test results came back to confirm that Raena had Friedreich’s ataxia.
Raena turned out to be the one person in 50,000 in the U.S. who inherits the disease. For a child to inherit FA, both parents must contribute a defective copy of the gene that has instructions for making the protein frataxin. Among Americans of European ancestry, one in 90 carries a defective copy, according to the NIH.
Raena’s father, Dan Brendtro, remembers getting the news.
"There’s literally nothing that’s out there to fix this." Dan Brendtro, father of a Friedreich's ataxia patient
“What they told us at diagnosis is there’s no known treatment or a cure and, with that, not to expect anything,” he said.
Faced with the knowledge that his daughter had a disease likely to put her in a wheelchair by the end of high school, Dan felt the need to act. “I think the very first phone call that I made was to a law school classmate of mine whose son had a rare form of brain cancer,” he said.
So one father whose family had faced a frightening diagnosis offered advice to another: Seek out a center of excellence and go to it.
Scientific research drives the future of health care: Learn more
Trip to Philadelphia
FA is so rare that cases are few in the Upper Plains, but the Children’s Hospital of Philadelphia has a center of excellence for the disease. Raena had an appointment there, within four weeks of her diagnosis, with the director of the FA program.
“He was very optimistic about where the research is but confirmed that there was nothing at the moment on the horizon, either in the treatment or in the cure,” Dan said.
However, Raena was added to the registry of patients with the disease. This would give her family updates about developments, include her in data analyses and provide information about clinical trials.
And two years after Raena’s diagnosis, her family did hear of a promising study. It seemed to show that several patients had been able to reverse the effects of the disease by 18 months. So Raena enrolled in a next phase of this study. But after 10 months, Dan said, the study was canceled. There had been some positive observations by patients, but no objective evidence that it was reversing or curing the disease.
“I call that the moment where you get the wind knocked out of you,” Dan said.
‘Helpless and powerless’
“In my mind, the goal has been to find something in the next five years,” Dan said. “The disease doesn’t take you overnight; it takes you slowly. If she’s here today, the assumption is she’ll be here in five years. And so five years from now, we’re gonna find something that pauses the disease or starts to unwind it.
“She was 13, but by the time she’s 18, let’s get there. And now she’s 18, and we don’t have that.
“So at the time that they canceled the study, we kind of felt like we had a safety net there. At least if it wasn’t going perfectly, it could somehow pause things. But without that, there’s nothing left.
“So I describe the period of time after that, about nine or 10 months, as just kind of living in dread where you realize that as optimistic as you were ahead of time, but there’s literally nothing that’s out there to fix this. You feel very helpless and powerless.”
Inspiration during first marathon
Then Dan learned about a group from Watertown, South Dakota, spearheaded by another father of a child with FA. The group was fundraising for the national nonprofit Friedreich’s Ataxia Research Alliance, which raises money and awareness to address the disease while building relationships among people touched by its tentacles, from science to government to patients.
“I was already planning on running the Twin Cities Marathon, so I signed up, raised money with them, set a goal of $1,000 a mile and, in two weeks, raised $26,200,” Dan said.
“For the first time, you felt you had some sort of power or efficacy in helping with the solution that is waiting,” he said.
While he was fundraising, he tried to explain to people what their donations would do: contribute to funding a research study.
“So I’m running this marathon, which is my first marathon, which is in itself a personal achievement and success. And I’ve just raised enough money to get close to $30,000, which feels like a personal success — but knowing that there’s no way in the world that I could possibly run enough miles at $1,000 a mile to make a difference. You just physically couldn’t do that,” Dan said. That amount wouldn’t come close to funding a full research study.
“And it was on that run that I had this idea of … what if you tried to fund a local study, where people would have this understanding that instead of the money going off to some nonprofit somewhere … that there was an actual scientific research study here that hires local people to work on local science to help a local person?”
‘Something outrageous that’s normally not done’
So after having this idea, at about mile 15 of the marathon, to start up an FA study in his city, Dan contacted Sanford Health. He didn’t know anyone in research. He didn’t know whether any scientist would even see his idea, let alone start a study because of it.
But his email about Friedreich’s ataxia, a disease affecting few patients and even fewer scientists, by happenstance arrived at the desk of one of two people — among a couple hundred Sanford Health researchers — who knew anything about the disease. That person, a technician, had worked for the other person familiar with Friedreich’s ataxia: Peter Vitiello, Ph.D.
Vitiello runs his own lab at Sanford Research with a main focus on gene-environment interactions, or how cells respond to environmental cues or chemicals. But he had collaborated several years before with a scientist at Mayo Clinic on a one-year study about Friedreich’s ataxia. The year and the funding ended, the other scientist retired, and Vitiello had to move on to other projects, leaving FA behind.
He had heard about this dad who called Sanford and asked “a question that makes a lot of sense, and also this is something outrageous that’s normally not done,” Vitiello said. He had heard about his persistent query of whether he could get someone there to study his daughter’s disease.
A separation from patients
Vitiello had chosen research for a reason. “Early on,” he said, “I recognized I had a passion for health and medicine, and spending some time in a hospital, there are a lot of successes and joys there. But emotionally, I didn’t want to be advancing health and medicine at that level, and that’s where I found a research laboratory as being a different avenue.”
In other words, he — like many in his field — preferred a certain separation, to work with patients’ cells rather than patients themselves.
Nevertheless, he agreed to do something that’s also normally not done: meet with a patient, Raena Brendtro, and her dad and hear their story. It would be the first person with Friedreich’s ataxia he’d ever met.
“Meeting a patient and her family and getting close to them really, really scared the heck out of me,” Vitiello said. “I didn’t know what I was getting into, how it would affect my ability to be effective. Would I be compromised? … Would I be telling them things just because they want to hear that?”
The project’s first meeting
Dan and Raena spent two or three hours meeting with Vitiello in his office at Sanford Research in October 2017. Vitiello shared with them some information about FA research. Dan described Raena’s history with the disease and his idea to raise money for a local research study.
“Is there something you can do?” Dan remembered asking Vitiello.
Vitiello first sketched a model of how cells work for Raena and explained how FA causes problems, Dan said. He also described his toxicology expertise and how that had applied to his previous work on FA. He indicated where FA research might go next. And then he told them about why he became a researcher instead of a doctor.
“But,” Dan continued, “he talked about how Sanford has a goal of service and involvement in the community. And you could just tell, from what I know now — and I may have missed it at the time — it is clear that he approached that meeting as a fellow father.
“It was obvious that he recognized that he had something to give, and … the question was how to do it.”
‘I’m all in’
After evaluating the concept with colleagues at Sanford Research, Vitiello met again with Dan and Raena.
“The answer that he gave was, he says, ‘I’m all in,’” Dan remembered. “He says, ‘I don’t know what that means at this point, but I’m all in, and we’ll figure out how we can help.’”
So Dan had found his researcher. “It’s an emotional and gratifying event to have another ally in this process. We didn’t know what it meant even. We just knew that we had someone else who was gonna work with us.”
Next up: Find the funding.
“I said, ‘Well, give me a budget,’” Dan said. “‘Give me something that I can raise money towards, and we’ll go and try to crowd-fund that amount.’”
So Vitiello came back with a plan and an amount. A little over $75,000 would support the FA research project for a year. Dan started a nonprofit, The Finish Line Fund, and got to work.
Fundraising for a cause
“We put together a crowd-funding campaign and a video and a website and started emailing people … and then more people — and Facebook and Instagram and Twitter,” Dan said.
“We got to $10,000 fairly quickly, and then at some point, it reaches this critical mass where people start doing it with you, for you, instead of you.”
Help came from a variety of places: pocket change in a Watertown classroom, Augustana students’ retweet donation campaign, even asking donors to appeal to their moms, who would surely understand the plight of a parent’s pain.
Dan met the budget goal, then surpassed it, raising close to $100,000 — within a month. “It took longer for us to put the contract together than it did for him to talk, decide we wanted to do this and raise money to do it,” Vitiello said.
So the project was set in motion in 2018, with a person dedicated to it and “a lot of learning curves,” Vitiello said.
A cell’s-eye view of FA
Friedreich’s ataxia affects the mitochondria, or the part of a cell that provides energy — “the battery pack,” as Dan phrased it. FA causes a mutation in the DNA coding for the frataxin protein gene. Instead of a certain sequence in DNA repeating at a normal seven to 22 times, it repeats far more, up to a thousand times, according to the NIH. This defect reduces the amount of frataxin in each cell and lowers the amount of energy produced by certain cells such as peripheral nerve, spinal cord, brain and heart muscle cells.
When normal cells make energy, that process creates chemical byproducts that can be toxic to cells, Vitiello explained. But antioxidant enzymes made by the body typically help balance out the toxicity. In the cells of FA patients, however, cells are making less energy at the same time that they start making more of the toxic byproducts, creating an imbalance.
Scientists know a lot about frataxin at the molecular level, Vitiello said, but there are still plenty of questions. That’s where his role of research study designer comes in. In his previous FA research, he had looked at an antioxidant molecule as it interacted with the affected molecule.
Several paths of study
Vitiello decided to learn more about how frataxin interacts with molecules in normal cells. It had been known to interact with “maybe seven or eight,” Vitiello said.
Now, his lab is “pretty confident that we’ve discovered at least 41 molecular interactions with the frataxin,” he said. Vitiello hopes this will help reveal more about how the absence of frataxin in FA cells leads to the disrupted ability to make energy.
At the same time, his team is looking at whether the toxic imbalance in FA cells could be corrected.
They’re also trying to find a way to differentiate normal cells from FA cells. That could help consistently measure improvements in FA cells if a drug or gene therapy were tried.
Another idea Vitiello hopes to work on soon came as a result of the collaborative nature of Sanford Research, where scientists know what colleagues are working on. The idea stems from a molecular level but could affect clinical treatment.
FA patients may end up seeing several specialists: neurologists; cardiologists for symptoms of heart disease; endocrinologists for type 2 diabetes. The endocrinologist might prescribe a common oral anti-diabetic medication.
Another Sanford Research scientist is studying an oral anti-diabetic medication that changes a predisposition for certain cancers. It reduces the energy a cell makes and, with it, the growth of cancer cells. That holds terrific potential for cancer patients. However, the idea of FA patients, who already have low-energy cells, taking this medication scares Vitiello.
“Does it worsen and accelerate the disease then by making the cells even more dysfunctional?” he said.
“So it’s not all about just finding these molecules and understanding them to prevent the disease, but to improve the care for the disease — and certainly not do anything that’s going to harm people.”
Raena’s life with Friedreich’s ataxia
Unlike her dad, Raena prefers not to study FA. “I didn’t even know how to spell ‘Friedreich’s ataxia’ until I was 15, and I’m an academic. I’m a good speller,” she said.
“And I love science, but I don’t really care to know that much about this. … I try not to make it a huge part of my life because it already seems like a huge part of my life.”
In teeming high school hallways, Raena resorted to a wheelchair to navigate safely and avoid falls. But elsewhere, she can get by with her walker — or Sabrina, as she and her friends have dubbed it.
Recently, Raena got an adult trike. She pedaled it gleefully to demonstrate, and Dan thinks riding it has also given her more energy, a welcome lift from the fatigue of FA. “Activity is a huge antidote to this disease,” he said.
Raena is also eager to resume yoga with her mom, a yoga instructor. “I enjoy using yoga to keep me strong, mentally and physically,” she said.
Her friendships also seem to help keep her strong. “FA has never made it socially weird at all,” Raena said. “I’m always so afraid that it is, and my friends are always telling me that I’m being ridiculous by even worrying about that.”
“I really love my friends, and I’m glad that they’re always there and I’m always gonna be normal to them.”
She has given a little thought to the fact that she’ll be heading to college without them. “But I’m pretty good at making friends,” she said.
She has advice for how people can approach her, too: “I’m more likely to respond to people who are just being a friend instead of trying to find an excuse to talk to me by helping me. I hate that stuff. And I can really do everything by myself, even if it’s not always the easiest.”
‘Come in and be an innovator’
Dan and Vitiello each did their part to start the research project. It was the beginning of their relationship as well.
Their personal connection has grown beyond a patient’s dad and a researcher. They obviously care for each other as friends, and their younger daughters even have play dates together.
“Pete is like a — I don’t know how to describe it,” Dan said. “Either like a brother or long-lost college roommate.
“We speak the same — well, we speak slightly different languages, but we’re on the same page on a lot of this. So he’s not afraid to get into the weeds on science stuff, and I’m not afraid to go and do some extra reading to try to figure out how to interpret what it is he’s up to.”
Vitiello updates Dan about the research projects underway and where different paths of FA research might lead. They send each other journal articles. Dan trusts Vitiello to follow the science.
“Maybe making some of these basic discoveries isn’t the flashiest way,” Vitiello said. “There’s never an expectation that the things I needed to do were going to directly help his daughter out or anything. But he just wanted somebody to come in and be an innovator and really think differently about this and create discoveries that other people weren’t doing that are important.”
Funding rare disease research
Vitiello also is looking for funding opportunities to continue his research. In the meantime, he encourages Dan to think of how he might use his fundraising skills. He suggests getting projects started with other researchers as well, tackling other angles of the disease.
Rare diseases are tougher to attract funding for because there’s less return on investment than more common diseases. The discoveries tend to be small and ultimately affect fewer people.
“We just wonder what else is out there that’s been half-funded or half-finished research studies,” Dan said. “And if there is only one in the whole world, and it just so happened to be four miles from my office, and it just happened to be as easily found as an email … then we are the most lucky people on the planet.
“But you would think that there has to be at least one of them out there somewhere that somebody wants to pick up and push forward.”
Keeping hope, facing reality
For parents facing a similar situation, Dan said learning all you can about the condition is crucial. If you don’t understand it, find someone with a science background to explain it to you. Connecting with a nonprofit centered on the disease is helpful, too.
“It’s going to be a long road, and you’re going to need to find ways to keep hope,” Dan said. “So if that means volunteering in some way, try to raise funding in some way. If it means sending $10 yourself … just find some way to be engaged in the process of hope.”
Raena, meanwhile, offers perspective on facing reality.
“I found that every time you really find the truth, it’s never as scary as you think. And even if it’s really scary, saddening stuff, like dying young or losing your ability to do everything that you used to be really good at, it’s really not scary when you realize what is in it. …
“I’ve recently realized that you can either be born with a disease that already has symptoms and never be able to do the types of things that you’re prevented — which is not me. … I’ve been able to experience jumping on a trampoline and doing flips and being able to run a 5K,” Raena said.
“I think that might be one of the reasons that a lot of people learn how to put FA into happy optimism like I do, because even though it’s really not ideal at all — it sucks — there’s a lot that I get to experience that other people don’t,” she said.
“It is how it is, and I just have to proceed from here. And there’s no reason that I can’t be happy doing it.”
‘You’re still the same person’
Raena described how her brother, a tennis athlete, had broken his knee badly within the past year. He was facing a winter without playing tennis and uncertainty about any future in the sport. She talked about the text she sent him, and she said they’ve grown closer than ever since.
Her dad looked at her with surprise. As she recalled the sentiments of her text, it was the first time Dan had heard about the interaction:
“I know that it might feel like your identity is being stripped from you. You’re still the same person. It might not feel like it, but you are the same person. I know what it feels like to someone to lose your abilities, and it’s not fun.
“But it’s not the end of everything.”
This story was originally published May 8, 2019. It was updated Feb. 24, 2020.
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Posted In Brain & Spine, Children's, Genetics, Neurology, Research, Sanford Stories, Symptom Management, Watertown