Gilbert Cantrell – Finding a Cause

At 54, Gilbert Cantrell enjoys talking about his success on the pitcher’s mound leading his senior, slow pitch softball team to tournament wins.

“I like to stay as active as I can,” he said, which is a challenge because Gilbert suffers from rheumatoid arthritis, ankylosing spondylitis, irritable bowel syndrome, and multiple sclerosis (MS).

“Most people are surprised when they find out I have MS,” he conceded. Diagnosed in 1993 at the age of 31, Gilbert has battled MS for 23 years.
The disease robbed him of the ability to work as a factory supervisor and limits how much he can help his wife Gloria with household chores. Double vision was the first MS symptom he developed. Over the years, he has struggled with tremors, joint pain, severe headaches, and fatigue. He’s lost his peripheral vision, and developed muscle spasticity in his hips and hamstrings that hampers his ability to walk.

Gilbert is grateful for the MS medication that has stabilized his symptoms, but he is frustrated that treatments can only manage the symptoms. “Treating the symptoms doesn’t cure the problem,” he said. “It is going to take gene therapy or something like that to really make a difference.”

His support of Discovery MS is one way he is trying to make a difference. Gilbert enrolled in the Duke University MURDOCK Study in 2011 and then the MURDOCK MS Substudy shortly after. He is encouraged by the direction Simon Gregory, PhD, principal investigator for the MURDOCK MS Study, is taking his privately funded research program.

“The only way they are going to cure it is to find out exactly what causes it. I think they are closer to that by looking at genetic markers,” Gilbert said.
Discovery MS, which is housed at the David H. Murdock Research Institute (DHMRI) on the NC Research Campus, is involved in several collaborative research projects to identify the genetic underpinnings of MS. Dr. Gregory’s team is looking for biomarkers—measurable molecular indicators in the body—that will allow them to develop tests that physicians could use to diagnose MS and use a patient’s genetic profile to determine the most effective treatment. “I have relatives with cancer, diabetes and lupus,” Gilbert said. “I’m diagnosed with three autoimmune disease so there has to be something going on genetically throughout my family. Dr. Gregory studying genetics and looking for biomarkers will get us to a cause. You have to know what’s causing anything before you know how to fix it.”

Although Gilbert knows that finding the cause and developing new diagnostic tools and treatments is a process, he says, “I’m hoping the research will help me. If it can’t help me, it will help somebody.”

Gina Graves – A Part of the Answer

Gina Graves is a bright, funny and friendly woman who is admired by many, especially her friends in the Cabarrus MS Xpress support group. As part of coordinating MS Xpress, she keeps up with and regularly shares the latest multiple sclerosis (MS) research findings with her fellow group members. She also encourages them to participate in the MS research studies overseen by the Duke University MURDOCK Study based at the NC Research Campus in Kannapolis, NC.

The samples of blood and urine and the health information donated to the MURDOCK Study by Gina and close to 1,000 other people with MS are a crucial research resource for Discovery MS, which is led by David H. Murdock Research Institute (DHMRI) researcher Simon Gregory, PhD. Gina enrolled in the MURDOCK study shortly after being diagnosed with relapsing-remitting MS in 2010. Dr. Gregory and Discovery MS are exploring MS at a molecular level to understand the “fingerprints” of MS revealed by biomarkers, which are measurable markers in the body that can be used to diagnose diseases and track their progression. By searching for MS-associated biomarkers, scientists and doctors can develop more effective ways to diagnose, treat, and possibly prevent MS.

New Tools for Diagnosis

Gina appreciates the need for a more definitive diagnostic tool for MS. Although she wasn’t diagnosed until a few years ago, she believes that the recurring headaches and bouts of vertigo she experienced throughout her life were early signs of MS. In 2008, she developed optic neuritis and lesions were found on her brain. Her doctor at the time told her she had nothing to worry about. She believed him until 2010 when she experienced an extended period of illness that included the inability to stand, severe fatigue, and slurred speech. She was hospitalized and underwent a painful spinal tap, after which she was officially diagnosed with MS.

Gina believes that if a biomarker-based diagnostic blood test, such as the one that Discovery MS hopes to develop, had been available she could have begun treatment two years earlier and possibly been spared permanent damage to her brain and spinal cord.

Real-time Monitoring of Progression

Although stabilized on a treatment regimen now, disease progression is a big concern for Gina. She knows firsthand that annual MRIs, the current treatment standard, are not the most effective means by which to track disease progression and to assess drug treatment efficacy. While in a clinical drug trial, she developed 20 new brain lesions in a month. Her lesions were only caught and her medication immediately changed because of the more frequent MRIs that the clinical trial required. Discovery MS hopes their work to develop biomarkers will address this challenge by enabling blood-based to be developed that will track progression and drug efficacy in real time at doctor’s visits.

“No one else is doing this,” Gina said. “Discovery MS is the only research group that is doing anything like this- using biomarkers to find answers about what is going on in our bodies. This is important to know about and important to be part of.”

Susie Philips – Speaking Out and Staying Strong

“It is so sad to see this disease destroy people’s lives,” reflected Susie Philips. “People with severe disabilities from MS don’t get out so most people don’t see them. They see people like me who are mobile. So I feel if I don’t talk about my disease, people may not know about MS.”
Susie talks about multiple sclerosis (MS) every chance she gets. She was diagnosed in 2005, but the first suggestion of MS came in 1997 in a rather surprising way.

After a car accident, an X-ray technician noted lesions and asked her about MS. “Of course, I said I didn’t have it,” she said. “Doctors at the time told me it was nothing and not to worry.”

A few years later, persistent numbness in her lower body prompted her to consult several neurologists. After an MRI, the official diagnosis of MS was delivered. She is stabilized on medication now, but because of MS she can’t work or take part in her favorite activities like hiking, skiing, riding horses, or gardening.

She knows her cognitive abilities have also been affected. “I don’t feel as smart as I used to be,” she said. “I can’t get my words out. It’s like a constant brain fog, and it is frustrating.”

Like many others with MS, she realizes in retrospect that the symptoms were present throughout her life from unexplained falls to numbness in her feet to foot dragging and times of extreme exhaustion.

She takes a faith-filled approach to managing life with MS. “I’m still walking and talking and praising God through it,” she explained. “The secret is how you handle your disease and help other people through their disease.”

She helps others by doing more than talking. She runs an MS support group, raises money for MS-related causes, and helps friends with MS handle the daily challenges of living with the disease. She also joined the Duke University MURDOCK Study and gave biological samples as part of the MS sub-studies, which are led by Simon Gregory, PhD. Gregory is also the lead investigator of Discovery MS. Her contribution is advancing research into the genetic and molecular origins of the disease.

“I’m hoping that Dr. Gregory will be able to identify the genes causing MS,” she said. “I feel he is closer to understanding the combination of genes that have gone wrong and finding ways to control the effects.”

Her confidence comes from Dr. Gregory’s experience researching complex human diseases and the team of scientists he is collaborating with at Duke University and the David H. Murdock Research Institute on the NC Research Campus in Kannapolis.

“I can cry about having MS or try and make the best of it,” Susie commented. “I choose to have a good attitude, help others and support initiatives that I feel will make a difference for people with MS.”