By Jamie Friedlander
Anthony Martinez, 26, was in high school when he started noticing some changes in his mother’s personality. Kathleen Eannotti was always a neat freak and the house was always spotless. Now she was acting out of character, hoarding, becoming irrational and getting angry at inanimate objects.
“For example, if I were typing on the computer, she would get angry at the noise of the typing and we’d get into this huge argument and she’d take a steak knife and try to stab the computer,” Martinez said. “That was shocking to me. It was pretty obvious that something was different.”
Over a tea at Barnes and Noble in Chicago’s Loop, Martinez told me his family always knew there was something “off” about certain family members, and they thought perhaps it was a genetic disease of some sort. They later found out it was Huntington’s disease.
Huntington’s disease is a genetic, hereditary neurodegenerative disease that leads to wasting or atrophy of specific regions of the brain. People with the disease can experience symptoms such as involuntary muscle movements — large sweeps of the arms and legs in almost dance-like rhythms medically known as chorea, the Greek word for dance. Martinez showed me what this looks like in his mom – he moved his body so that it looked like he was making a series of quick, involuntary muscle jerks at the shoulders. Other symptoms may include slow eye movements and trouble speaking, as well as difficulty organizing tasks, lack of impulse control and trouble absorbing new information. Huntington’s disease patients also experience psychiatric symptoms, such as bipolar disorder – or switching from depression to mania – and obsessive-compulsive disorder, or repetitive behavior or thoughts, according to the Mayo Clinic.
A child of a parent with Huntington’s disease has a 50 percent chance of inheriting the gene and developing the disease. A genetic test can determine whether a person has the gene mutation that causes the disease. People typically develop the disease in their 30s, 40s or 50s, although it can happen at any time, as early as childhood. Medications treat the symptoms associated with the disease, to ease jerking movements, but there is no cure for it.
Typically, a person with Huntington’s disease will live 10 to 20 years after onset of the disease. One in 10,000 Americans has the disease, according to the Huntington’s Disease Society of America. It affects men and women equally across races. Folk singer Woody Guthrie – the composer of “This Land is Your Land” – had Huntington’s disease.
“I think the number of people diagnosed with HD is really a lowball number of the people affected by it because you have to remember, it’s every single person in that family who has to see the person they grew up with, the person they loved, change and turn into something different,” said Martinez.
Genetic Testing
Martinez spoke very openly with me about his family’s history with Huntington’s disease. His mother lives in a nursing home in Connecticut, where he was raised. He visits her periodically and his grandmother, who is unaffected by the illness, helps Eannotti write him cards. When Martinez first started realizing his mother had Huntington’s disease, he said he was overwhelmed with the possibility of developing it.
“It’s terrifying,” Martinez said. “Every twitch, every stumble, every mistake, every forgotten thing is like: ‘Was that a symptom?’ When I’m falling asleep, if I twitch, that’s normal. But is that Huntington’s disease? It can cause a lot of depression, it caused depression for me.”
Martinez, who is currently finishing up his PhD in chemistry at the University of Chicago, hasn’t been tested for the gene yet. Neither has his brother, his new nephew nor his three cousins. His aunt recently died from pneumonia, as Huntington’s disease contributes to such infections by compromising the immune system. He said it is almost certain he, his brother or one of his cousins will develop the disease at some point.
“One of the five is going to get sick, and that’s certainty,” said Martinez. “So we have to prepare. And that’s kind of the motto of the Huntington’s community. Prepare for the worst and hope for the best.”
“So we have to prepare. And that’s kind of the motto of the Huntington’s community. Prepare for the worst and hope for the best.”
-Anthony Martinez
Only about 5 to 7 percent of those living at risk for Huntington’s disease choose to get the genetic test, according to the National Center for Biotechnology Information. A genetic test for Huntington’s disease has been around since 1993.
Martinez has the equipment in his lab at the University of Chicago to conduct the genetic test himself. He ran the idea by his mother’s doctor, who wasn’t on board with that approach because a big component of genetic testing is the counseling that goes along with it.
He said another reason he hasn’t been tested for the gene is because a positive result might have a negative effect on long-term health insurance and job opportunities.
Martinez said he envisions he would get tested if he and his wife plan to have children. When I asked him whether it was difficult to date when you’re at risk for Huntington’s disease, he said he considers himself lucky. The pair got married just last year and he has been with his wife since freshman year of college. He said his wife told him she’ll stick with him no matter what and that she’d never abandon him. “I think a lot of people don’t have that.”
For now, Martinez still doesn’t plan to get tested. “Right now, it doesn’t seem necessary to know,” he said. “I’m going to do everything now to prepare as if I have HD. Just knowing would be like telling me: Here’s a time bomb. We’re not going to tell you how long until it’s going to go off. You’re just going to hold onto it, and good luck.”
But Chris Furbee, 48, a documentary filmmaker, said in a phone interview that he got tested for the gene at age 30. His mother had the disease and he can trace it all the way back to his great grandmother.
Furbee lives in the San Francisco Bay Area and recently finished a documentary film about Huntington’s disease, Huntington’s Dance, which follows his mother coping with the disease. Furbee decided to get the genetic test while filming for his documentary.
“It wasn’t necessarily that it was an easy decision,” Furbee said. “I had to think on it for a while because once you get that information, you can’t take it back.”
After getting the test, Furbee had to wait two weeks for the results.
“It was like the longest two weeks of my life,” he said. “I would literally go through these euphoric stages – one minute I’m happy and laughing and the next minute I’m crying and depressed. I was definitely on a rollercoaster of emotions during that period.”
Furbee tested positive for the Huntington’s gene, which profoundly changed his life.
“What happened was that I felt like I was searching for something to do with my life and that basically enabled me to get involved with the Huntington’s disease community.”
Furbee didn’t notice any symptoms for another 11 or 12 years. He has now been living with the disease for about six or seven years.
A Possible Treatment
There is no cure for Huntington’s disease, though there are medications to treat chorea, which is the involuntary muscle jerking and writing that occurs in most patients. Many patients also take medications to treat the psychiatric symptoms associated with the disease, such as depression and anxiety.
A team of researchers in France, however, is in the very early stages of working on a possible treatment that could potentially slow down the progression of the disease. The treatment would go to market as a pill, though it is currently administered in the form of a synthetic triglyceride oil drug called triheptanoin. The first part of the published study, “Triheptanoin improves brain energy metabolism in patients with Huntington’s disease” appeared in the online issue of Neurology on Jan. 7. The study only involved 10 patients with Huntington’s disease, however, so results are still in the very early stages.
In a phone call, study author Dr. Fanny Mochel, with Pitié-Salpêtrière University hospital in Paris, France, said the goal of this treatment is to possibly help patients by altering the way neurons use energy. Neurons are cells of the nervous system that transfer information in the brain through electrical and chemical signals.
“The idea is to improve energy function in Huntington’s disease,” said Mochel. “We think it’s going to be useful, but it’s really impossible to predict to what extent.”
Mochel is a geneticist by training who has worked in the field of Huntington’s disease research for about 10 years. She emphasized that this treatment isn’t targeting the gene mutation present in Huntington’s disease patients, but rather would serve as a therapy to slow the progression of the disease.
“Huntington’s disease has been described as the most devastating disease known to man, and it’s devastating because it robs you of who you are.”
-Dr. Michael Hayden
“It’s more of a long-term effect hoping to slow down the progression of the disease itself because you’re improving the overall metabolic function of the cell,” she said. The next step for the study, according to Mochel, is going to be following 100 patients treated for a year.
Dr. Teepu Siddique is a professor in neurology at Northwestern University who studies diseases such as ALS (Amyotrophic Lateral Sclerosis), or Lou Gehrig’s Disease. Siddique, who did not work on the study, said that while this treatment could possibly be effective, it does not actually change the expression of the disease or the main problem, which is the gene expression.
“They’re trying to improve the metabolic profile of the brain’s energy utilization,” said Siddique. “Whether that will take care of the problem, I don’t know.”
Looking Forward
In the documentary film Alive and Well, which follows seven families affected by Huntington’s disease, researcher Dr. Michael Hayden puts it simply.
“Huntington’s disease has been described as the most devastating disease known to man, and it’s devastating because it robs you of who you are.”
Furbee believes his film, which premiered at the Slamdance Film Festival last year, leaves viewers with hope.
“I think there’s hope at the end of it and that’s what I wanted to leave it with,” he said. “I could have ended my life, but I chose to lead with positive things right now and that actually makes me feel good, knowing that I’m able to help people.”
