UCF student works to give Huntington’s disease a face

Now, more than any other time in history, debilitating diseases are on the forefront of the medical world. Alzheimer’s disease, Parkinson’s disease, muscular dystrophy and others are being heavily researched and are largely recognized by the general public.

UCF student Samantha Ulmer believes that there is one disease that does not have the recognition it should have: Huntington’s disease.

“There isn’t really a face for Huntington’s disease," Ulmer said. "Parkinson’s disease has Michael J. Fox, someone who is outspoken about the disease. And Huntington’s disease, there isn’t really anyone who you link the disease to, so it can be easily forgotten.”

Ulmer, a third-year student in the M.D. program at the UCF College of Medicine, has experienced how Huntington’s drains the life out of those suffering from it — her grandmother had Huntington’s and died when Ulmer was a child.

“As I was getting older was when her disease was getting more severe, and she was losing her ability to communicate — she just couldn’t really talk, you couldn’t understand what she was saying when she tried to talk,” Ulmer said.

And because there is a history of Huntington’s in her family, Ulmer might have the gene that causes Huntington’s. There is a test available to determine whether she has that gene, but Ulmer has decided not to take it. She is, however, working to make Huntington’s disease more recognizable.

According to the Mayo Clinic’s website, “Huntington’s disease is an inherited disease that causes the progressive breakdown [degeneration] of nerve cells in the brain.” Huntington’s is caused by a defect in a gene that was passed down by a parent. According to the National Caregiving Council, about 30,000 Americans have the disease.

While a person with Huntington’s lives with the defective gene their entire life, symptoms of the disease typically do not manifest until a person is in their 30s to 50s. But, the disease can affect people as young as 2 years old, which is known as juvenile Huntington’s disease.

“I chose not to get tested because I am young now and don’t want to spend this time of my life worrying about a disease that won’t affect me until I am much older,” Ulmer said.

Once the disease manifests itself, the person with Huntington’s will suffer from involuntary muscle jerks, a decrease in fine motor skills, dementia and difficulty eating. According to the Huntington’s Disease Society of America, after an average of 10 years to 20 years, a person suffering from Huntington’s will die; Huntington’s is a terminal disease and does not have a cure.

Ulmer supports those with Huntington’s disease and researches ways to find treatments and, eventually, a cure for the disease. Wendy Sarubbi, director of communications for the College of Medicine, thinks Ulmer is the right person for the task.

“Samantha is very bright and very patient-focused," Sarubbi said. "She really puts an emphasis on patients and patient health and patient care.

“She’s got the head and heart for medicine.

Ulmer’s “heart” is immediately evident when one hears about her FIRE project. A requirement of the M.D. program at UCF is a Focused Individual Research Experience, or FIRE, project. Sarubbi said that students “come up with a topic that they’re passionate about,” research the topic and make a presentation once the project is complete.

For her FIRE project, Ulmer has worked with people who have Huntington’s in order to improve their lives, Sarubbi said. Ulmer has also been raising awareness for Huntington’s disease as a part of her project.

Ulmer works alongside James Valvano, 40, of St. Cloud to raise awareness for Huntington’s disease. Valvano, who was diagnosed with Huntington’s in 2009, has spent the past year making a documentary about Huntington’s and how people around the world are battling the disease.

“Our aim is to visit as many people internationally as possible” in order to interview them and make their experiences with Huntington’s heard, Valvano said.

The documentary, titled The Faces of Huntington’s Disease: I am No Longer a Faceless Face, is still in the production phase.

However, in April, Valvano released a five-minute trailer for the documentary on his YouTube channel. The trailer has been released in six languages and, between the six versions, has been viewed more than 2,200 times.

While it seems that Ulmer and Valvano are making headway toward giving Huntington’s disease the recognition that they think it should have, Ulmer believes that it will take the help of others, including UCF students, to make that goal a reality.

“I think it’s important for people to recognize the disease and its seriousness and try and help as much as they can with any events that are going on … to just try and raise money and awareness,” Valvano said.

For more information on Huntington’s disease awareness events in the Orlando area, visit the central Florida affiliate of the Huntington’s Disease Society of America at www.hdsa.org/cflaff. 

For more information on James Valvano’s documentary, visit www.wehaveaface.org/feature.