Driven from Her Heart to Research Fellowship: A special bond with her grandfather leads UI student to conduct Huntington disease research
Monday, July 15, 2013
Story by Sean Thompson
Photos by Owen Wade
University of Iowa senior Jolene Luther’s face lights up as she keenly talks about her grandfather and his major influence on who she is and what she wants to do with her life. Though William Holcomb died from the incurable, familial neurodegenerative illness Huntington disease (HD) in the fall of 2011, his impact continues to live on through Luther and the research she is doing this summer at the UI as a 2013 Huntington’s Disease Society of America (HDSA) Donald A. King Summer Research Fellow.
The Belgium, Wis., native was one of two fellows selected by the HDSA for this research initiative. The fellowships are intended to advance Huntington disease research while also ensuring the “best, brightest and most motivated young minds are introduced to Huntington disease and assist them as best we can so that they will join our fight against HD,” said George Yohrling, Ph.D., HDSA director of medical and scientific affairs.
For 10 weeks this summer, Luther is looking at MRI scans of Huntington disease research participants to identify whether or not there are increased levels of iron in the brain, a possible indication of disease progression. She is being mentored by Jane Paulsen, Ph.D., professor of psychiatry, neurology, psychology and neuroscience, and Hans Johnson Ph.D., assistant professor of psychiatry.
The Relationship that Defined a Future Fellow
A pre-med Spanish major, Luther has a love for medicine and science. Then again, you’d have to if you were spending a summer poring over MRI images. But it’s the special bond with her grandfather that Luther’s mother Stephanie Bernander says led Luther to get involved in the Huntington disease research field.
“It’s from her heart that she’s driven to do this,” Bernander said.
Luther says she and her grandfather were close from the start. She would spend time visiting him in Lander, Wyo., going camping in the mountainous outdoors he loved so much. Luther remembers arriving at his house, where the aroma from a plenitude of muffins and other breads her amateur-baker grandfather had made for her would almost knock her off her feet.
Holcomb was also there for what turned out to be a defining moment in both of their lives. At 11 years old, Luther sat in a genetic counselor’s waiting room in Milwaukee with her mother and grandfather. As they waited, Bernander explained that Holcomb was sick and was getting tested to confirm if the same disease his brother had was making him sick, and Bernander was getting tested also.
But why would the healthy Bernander need to be tested for the same disease, Luther wondered. And what is this disease they’re talking about? This confusion led to intrigue, and Luther first discovered her interest in science and medicine, which would only grow, as her journey with Huntington disease was just beginning.
The Impact of a Neurodegenerative Disease
As his family feared, Holcomb tested positive for Huntington disease and was diagnosed with disease symptoms. Huntington disease causes deterioration of nerve cells in the brain and is characterized by drastic changes in behavior and personality, a decline in thinking ability and memory, depression and involuntary movements. As Holcomb’s children, Bernander and her sister had a 50-50 chance of inheriting the genetic disease. Both opted for presymptomatic genetic testing to find out if they had the disease-causing genetic mutation, and fortunately, both tested negative.
UI senior, Jolene Luther, is spending her 2013 summer in a fellowship position in hopes her contributions will help determine if iron deposits can be detected on MRI scans of Huntington disease (HD) research participants. Her grandfather died of HD in the fall of 2012.
A couple of years after his diagnosis, Holcomb’s symptoms had worsened. Eventually, people with Huntington disease are unable to care for themselves. Holcomb was moved to Wisconsin where he first lived in his own home across the street from Luther’s family, and soon thereafter, he moved in to their home to be cared for by Bernander, Luther, Luther’s stepfather and Luther’s younger brother.
As described in an article she wrote for the Huntington’s Disease Youth Organization, Luther watched as “the mountain climbing, long-distance biking, bread making, swim coaching man that everyone loved changed before our eyes and there was nothing we could do about it.” Furthermore, her family had great difficulty like many Huntington disease families do with finding specialists and resources needed to properly care for their loved one with this largely misunderstood disease.
“From there, I knew that I wanted to be that person that could help out a family who was struggling and didn’t have the help that they needed,” Luther said.
Memorializing Through HD Involvement
In the fall of 2011, hospice staff contacted Bernander while she was out of the state for work and advised her to return home. The 75-year-old Holcomb was in his last days, they said. Bernander called Luther in Iowa City to let her know her grandfather might pass away very soon. There wasn’t even any guarantee that Luther would make it back to Wisconsin in time to say goodbye. But hour after hour passed, with Holcomb fighting to stay alive.
“The hospice workers told us that he wasn’t letting go because something isn’t finished,” Bernander said.
Luther got home as soon as she could, missing a biology midterm in the process. When she arrived at her house in Wisconsin late at night, she immediately went to see her grandfather.
“I held his hand and told him that I made it home to see him, and that everything was going to be fine,” Luther said, “and that I loved him.”
Exhausted from the late-night scramble to get home, Luther went to lie down briefly on a couch outside Holcomb’s room and dozed off. Ten minutes later, Bernander woke her to let her know that her grandfather had passed away.
“I think it’s true that people hold on for the people they love,” Luther said. “I’m so glad I came home and was able to say my real goodbye and be with him.”
Luther felt empty the following spring and wanted to do something to honor her grandfather following his death. She reached out to the UI Huntington’s Disease Society of America Center of Excellence and asked if there was anything she could work on, even if it was just making copies. She just wanted to be connected to her grandfather and contribute to helping HD families. The UI HDSA COE hired Luther to work on writing projects, and her main project involved summarizing medical journal articles published by the UI HDSA COE’s PREDICT-HD study to make them more understandable for the public. But she didn’t want to stop there.
The Opportunity of a Lifetime
While studying abroad in Madrid this past spring, Luther applied for the HDSA summer fellowship, because she saw it as a good opportunity to get some experience in HD research and make an even bigger contribution to helping those with the disease. In her application, she cited the experience of seeing her grandfather’s suffering and deterioration as motivation for wanting to take the next step and conduct Huntington disease research.
“When HDSA announced this fellowship in December, I created a picture in my mind of the ideal student that should receive this opportunity,” Yohrling said. “The student would have a high level of academic achievement, and propose a meaningful project with direct relevance to HD patients. However, this student would also exhibit the drive and passion to do something special for HD. Jolene certainly personifies the type of student and person I envisioned would win this fellowship.”
Luther’s fellowship research involves looking for increased iron levels in MRI scans of brains of people in the PREDICT-HD study who have tested positive for the Huntington disease gene but are not yet diagnosed with symptoms of HD (known as the prodromal stage of HD). These iron deposits are detectable on the scans by identifying dark, lower-intensity spots on the images known as hypointesities. Increased iron levels have already been identified in brains of people diagnosed with Huntington disease, Luther says, and also in a smaller study of prodromal individuals. Furthermore, increased iron levels are believed to be part of the disease process for neurodegenerative diseases like Huntington disease.
Not only will Luther be looking to detect these increased iron levels in MRI scans of participants from the UI’s PREDICT-HD study, she’ll also compare the levels for those who are believed to be near and far from an HD diagnosis, which is estimated using a mathematical formula. If the levels in prodromal individuals are higher overall than control participants and higher as a person progresses closer to estimated diagnosis, Luther says the iron deposits may be a biomarker or measure of disease progression for Huntington disease, detectable even at the disease’s earliest stages.
If this turns out to be the case, Yohrling says Luther and her mentors will have made an incredibly significant finding. Biomarkers can be used to test whether a Huntington disease treatment or therapy is effective at slowing disease progression in the brain, at the earliest point possible in the disease process. Since looking at actual brain tissue samples of people living with HD isn’t possible, non-invasive measures like MRI scans would need to be used to see if treatments were reversing the accumulation of iron deposits in the brain, for example.
“The HD research community has a critical need for robust biomarkers for HD that track disease progression,” Yohrling said. “Perhaps hypointensities caused by iron could be that biomarker.” Paulsen echoes Yohrling’s enthusiasm about the potential of finding an HD imaging biomarker. She also recognizes the extra significance this opportunity holds for Luther and her family.
“I know how much this means to [Luther] on a personal level,” Paulsen said. “It should be part of the mission of any Huntington disease researcher to help people like Jolene from Huntington disease families. This is one way we can do that directly, while mentoring a promising student and hopefully advancing Huntington disease research.”
Luther says she’s looking forward to learning from HD experts like Paulsen and Johnson this summer and hopes, together, they can advance HD knowledge in just 10 weeks.
“It’s really exciting to know that so early on in my career, I can be contributing something significant that would help people who are suffering from Huntington disease,” Luther said.
An Everlasting Connection to her Grandfather
Early this April, Luther knew the fellowship recipients would hear from HDSA and was checking her email with great frequency. As she sat in her room at her host mom’s house in Madrid, one click of the “refresh” button resulted in screaming, jumping, and crying for joy upon receiving the congratulatory email. Bernander recalls hearing the overwhelming excitement in her voice when Luther called to tell her the good news.
Bernander also feels overwhelmed with joy and emotion when she thinks about her daughter’s pursuits in Huntington disease research and succumbs to tears when talking about it. In some ways, she says, Luther’s work toward helping those with Huntington disease feels like the fulfillment of an unfulfilled dream of Bernander and her family, wishing at the time they could have done more to ease Holcomb’s suffering.
“I think it would be easy to walk away at this point and just let [Huntington disease] fall from our lives,” said Bernander, who is herself the vice president of the HDSA Wisconsin Chapter. “To have Jolene be so committed, knowing that she likely won’t have to face it in her personal life again, yet wanting to give back to all the other people that will experience what we did, it’s beyond description just how proud I am of her.
“And I just know how proud my dad would be of her for everything she’s doing. I know he’s smiling down.”
Luther’s grandmother, Sue Holcomb, says this is exactly the way the kind and gentle William Holcomb would have wanted Luther to contribute to the HD community.
“The biggest gift that Jolene could give her grandfather is to be involved in helping find something that can help others,” Holcomb said. “I’m grateful that Jolene’s going to do this and my heart just swells thinking about it.”
Luther still holds the memories of her grandfather close to her heart; a pair of photos of the two of them together hangs in her office cubicle. In a small but significant way, Luther says her contributions to HD research this summer and beyond help make up for the fact that there won’t be any new photos of the two of them together.
“I was so young when his disease was progressing,” she said. “He didn’t really get to know me in my adult life. This is kind of my way of getting to contribute something to him, even though he’s not here to see it. I think he’d be really proud of me.”
Contact: Sean Thompson, Public Relations Coordinator, Huntington's Disease Society of America Center of Excellence