![\"1988:](\"http:\/\/news.medill.northwestern.edu\/chicago\/wp-content\/uploads\/sites\/3\/2015\/01\/1988-for-web.gif\")
<\/a>Over a tea at Barnes and Noble in Chicago\u2019s Loop, Martinez told me his family always knew there was something \u201coff\u201d about certain family members, and they thought perhaps it was a genetic disease of some sort. They later found out it was Huntington\u2019s disease.<\/p>\n
Huntington\u2019s 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 \u2014 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 \u2013 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\u2019s disease patients also experience psychiatric symptoms, such as bipolar disorder \u2013 or switching from depression to mania \u2013 and obsessive-compulsive disorder, or repetitive behavior or thoughts, according to the Mayo Clinic<\/a>.<\/p>\n A child of a parent with Huntington\u2019s 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.<\/p>\n Typically, a person with Huntington\u2019s disease will live 10 to 20 years after onset of the disease. One in 10,000 Americans has the disease, according to the Huntington\u2019s Disease Society of America<\/a>. It affects men and women equally across races. Folk singer Woody Guthrie \u2013 the composer of \u201cThis Land is Your Land\u201d \u2013 had Huntington\u2019s disease.<\/p>\n \u201cI 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\u2019s 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,\u201d said Martinez.<\/p>\n Martinez spoke very openly with me about his family\u2019s history with Huntington\u2019s 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\u00a0 write him cards.\u00a0When Martinez first started realizing his mother had Huntington\u2019s disease, he said he was overwhelmed\u00a0with the possibility of developing it.<\/p>\n \u201cIt\u2019s terrifying,\u201d Martinez said. \u201cEvery twitch, every stumble, every mistake, every forgotten thing is like: \u2018Was that a symptom?\u2019 When I\u2019m falling asleep, if I twitch, that\u2019s normal. But is that Huntington\u2019s disease? It can cause a lot of depression, it caused depression for me.\u201d<\/p>\n Martinez, who is currently finishing up his PhD in chemistry at the University of Chicago, hasn\u2019t been tested for the gene yet. Neither has his brother, his new nephew nor his three cousins. His\u00a0aunt recently died from pneumonia, \u00a0as Huntington\u2019s 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.<\/p>\n \u201cOne of the five is going to get sick, and that\u2019s certainty,\u201d said Martinez. \u201cSo we have to prepare. And that\u2019s kind of the motto of the Huntington\u2019s community. Prepare for the worst and hope for the best.\u201d<\/p>\n \u00a0“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.”<\/p>\n -Anthony Martinez<\/p><\/blockquote>\n Only about 5 to 7 percent of those living at risk for Huntington\u2019s disease choose to get the genetic test, according to the National Center for Biotechnology Information<\/a>. A genetic test for Huntington\u2019s disease has been around since 1993.<\/p>\n 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\u2019s doctor, who wasn\u2019t on board with that approach because a big component of genetic testing is the counseling that goes along with it.<\/p>\n He said another reason he hasn\u2019t been tested for the gene is because\u00a0 a positive result might have a negative effect on long-term health insurance and job opportunities.<\/p>\n 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\u2019re at risk for Huntington\u2019s 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\u2019ll stick with him no matter what and that she\u2019d never abandon him. \u201cI think a lot of people don\u2019t have that.\u201d<\/p>\n For now, Martinez still doesn\u2019t plan to get tested. \u201cRight now, it doesn\u2019t seem necessary to know,\u201d he said. \u201cI\u2019m going to do everything now to prepare as if I have HD. Just knowing would be like telling me: Here\u2019s a time bomb. We\u2019re not going to tell you how long until it\u2019s going to go off. You\u2019re just going to hold onto it, and good luck.\u201d<\/p>\n 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.<\/p>\n Furbee lives in the San Francisco Bay Area and recently finished a documentary film about Huntington\u2019s disease, Huntington\u2019s Dance, <\/em>which follows his mother coping with the disease. Furbee decided to get the genetic test while filming for his documentary.<\/p>\n \u201cIt wasn\u2019t necessarily that it was an easy decision,\u201d Furbee said. \u201cI had to think on it for a while because once you get that information, you can\u2019t take it back.\u201d<\/p>\n After getting the test, Furbee had to wait two weeks for the results.<\/p>\n \u201cIt was like the longest two weeks of my life,\u201d he said. \u201cI would literally go through these euphoric stages \u2013 one minute I\u2019m happy and laughing and the next minute I\u2019m crying and depressed. I was definitely on a rollercoaster of emotions during that period.\u201d<\/p>\n Furbee tested positive for the Huntington\u2019s gene, which profoundly changed his life.<\/p>\n \u201cWhat 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\u2019s disease community.\u201d<\/p>\n Furbee didn\u2019t notice any symptoms for another 11 or 12 years. He has now been living with the disease for about six or seven years.<\/p>\nGenetic Testing<\/h1>\n
<\/a><\/a>