It was just a genetic flip of a coin that so far has spared Michelle Teague from sharing the same cruel fate that befell her sisters. And she would like to reach out to other families in the area who are dealing with Huntington’s disease.
The progressive and fatal neurodegenerative disease claimed not only her two sisters, Susan and Dani, but also her mother, Carol, and her maternal grandmother. Despite a 50/50 chance of inheriting the same genetic mutation leading to the disease, like most at risk she has not undergone pre-symptomatic testing.
“What can I do about it?” Teague said. “There is nothing out there that can slow the progression or cure the disease.”
Everyone carries the Huntington gene, but it is a triple repeat of three DNA bases – cytosine, adenine and guanine – in the gene on the end of chromosome 4, that cause Huntington’s disease. Forty or more of the triple repeats in the expanded gene lead to the disease. The gene and the number of repeats and their association with Huntington’s was established in 1993, which led to a highly reliable genetic test. But most of those considered at risk and without symptoms don’t get it. There are only about 300 of the presymptomatic tests performed each year, so only about 10-15 percent of those at risk have been tested, according to a review article in the journal NeuroRx.
Huntington’s disease is more prevalent in Caucasians, affecting about 1 in 10,000. There are about 30,000 people in the U.S. who have it and another 250,000 are at risk, according to the Huntington’s Disease Society of America. It is understandable why a younger, healthy person at risk because of family history would not get the test, said Dr. John Morgan, a neurologist with the Movement and Cognitive Disorders Center at Georgia Regents University.
They might be faced with “I’ve got the HD gene. I have a shortened lifespan, why should I try any more?” Morgan said. “What does it matter? I’m going to end up with dementia, winding up with trouble with falls and balance, going into a nursing home. It’s kind of rough.”
Educating the public about the disease is an “uphill battle” because even in families with a history of it, they might not talk about it, as Teague’s family did not. Part of it was the stigma – because her grandmother, who had it and died her early 40s, was institutionalized “because they didn’t know what to do with it back then,” Teague said. “It was such a hush-hush topic growing up. No one spoke about it. I knew it existed but I didn’t know anything more than the name of the disease.”
That might also have been why her mother refused to see a doctor about it and was diagnosed late.
“There was that fear that she would be in an institution or something similar to what happened to her mother,” Teague said.
It can be a terribly isolating and devastating disease for families, Morgan said.
“Even folks in the family who may not have the gene, they experience significant stress growing up in a Huntington’s family,” he said. “There’s divorce. There’s people who don’t understand what’s going on. They push people away. The family falls apart.”
Unlike some other neurodegenerative diseases, there is a significant psychological component to Huntington’s. And those symptoms, such as depression or aggression, can be the first sign a patient shows, Morgan said. Teague thinks that’s what happened with her older sister, Susan, who would have wild mood swings and become aggressive.
The disease can be characterized by involuntary jerking or twitching of the limbs or severe rigidity, and the course of disease is often different for different patients. But eventually, one by one, those afflicted lose functionssuch as walking, talking and swallowing, and many get dementia. About 15 percent commit suicide, Morgan said. Teague’s mother and sister died within seven weeks of each other in 2006. Teague would not let her younger sister, Dani, who just died in February, watch their older sister at the end,
“I did not let my young sister see that because I knew that was her fate,” she said.
Dani was the only one to get the genetic test and it confirmed for her what the twitching she had really was.
“It was almost a little bit of a relief,” Teague said. “She just had this positive outlook in spite of what I would call a death sentence. She had her moments, but she never let this stop her from going out in public. Both my mom and my sister didn’t want to go out in public anymore, didn’t want to do anything. Not my younger sister. She wanted to be everywhere and do everything that everyone else was doing.”
That can be one of the problems with forming a Huntington’s disease support group – transportation for those patients and the difficulty caregivers might have in even leaving the house, Morgan said. There is a Facebook support group, which helps, Teague said. But she would like for families to be able to connect in person.
“I don’t want anyone to feel like they are alone or they can’t connect with someone else who has gone through almost the exact same experience,” Teague said.
The disease typically shows up in adults when they are between 30 and 50, as it did in Teague’s family. And she thinks about it “every time I forget something, every time I trip over something,” Teague said. “I do watch but not like I did in my 30s.”
As time has gone by, she said, others have tried to assure her she is going to be OK.
“Everyone dreads their 40th birthday,” Teague said. “When I turned 40 and I wasn’t sick the way my family was, I was ecstatic. Okay, bring on 41, bring on 42.”
Now at 47, and having gone through what she has gone through, she would like to share that with other families.
“Unless you have lived through it, you don’t really understand, especially when it can affect your entire family,” Teague said.