A Roll of the Genetic Dice
Jul 2009
Support groups in Virginia Beach and Newport News help local families find strength in numbers.
As a small group of people gathered around the dining room table in Marie Clay’s Virginia Beach home early one weekday morning, their eyes shifted from one person to another, periodically grazing past the spread of freshly baked cake and just-brewed coffee. While Clay’s home felt warm and inviting that morning, her guests seemed visibly distracted. One man tugged repeatedly at the front of his shirt; a woman chose to stand instead of sit,
In 1998 a genetic test confirmed suspicions that Laurie Clay, center, had inherited the HD gene from
her father Phillip, who died from the disease in 2006. Surrounding Clay are her son Michael, fiancee
Michael Harris and mother Marie.
swaying slightly and clenching her fiancé’s hand for balance; and another woman had to keep herself from rudely staring at the base of Clay’s neck. It was jewelry that kept catching her eye.
Clay wore two simple necklaces, each drooping with a circular pendant. The onlooker’s curiosity got the better of her, so she asked Clay what the circles represented. “One circle has my kids’ and grandkids’ names on it,” said Clay. “The other one is pewter and represents a hope for a cure. I’ve worn it so much that it is tarnished, [and] my feeling is that I can get a new one and it will be all nice and shiny, but Huntington’s doesn’t get new or nice and shiny, so I’m keeping the tarnished one on.”
Clay’s 38-year-old daughter Laurie nodded in agreement with her mother’s statement. In April 2000, Laurie was diagnosed with Huntington’s disease (HD), a progressively degenerative neurological disorder that she inherited from her father Phillip.
What causes Huntington’s Disease?
“The sense of community around families facing Huntington’s is truly unique….They are committed, they are driven, and they are
really, really strong.”
—Louise Vetter,
Though once considered a rare disease, HD is one of the more frequently encountered hereditary diseases. The Family Caregiver Alliance in San Francisco, Calif., estimates that 30,000 people nationwide have the disease, while another 200,000 are at risk of inheriting the disease. Those who have a parent with HD have a 50-percent chance of inheriting the defective gene, and which is passed randomly to children; some parents with HD may not pass the gene to any of their children, while some pass it to all of them. Also, HD does not skip generations, so if a child does not inherit the gene, he or she cannot pass it on to future generations. People who inherit the HD gene will eventually develop the disease if they don’t die of other causes (stroke, cancer, etc.) before HD progresses.
HD affects both women and men and all ethnic groups, and anyone from two to 80-plus years of age can develop it. A person with the disease experiences a gradual decline over a period of 10 to 25 years, typically leading to the individual’s complete dependence on others. The affected person eventually dies from complications, such as heart failure or aspiration pneumonia, which is inflammation of the lungs and bronchial tubes from breathing in foreign material, usually food, liquids, vomit or saliva.
Currently, no medications can halt or slow the progression of HD, but they can be effective in treating some of the common symptoms such as involuntary movements, depression and anxiety. Other interventions such as physical, occupational and speech therapy can help a person with HD maintain a high level of functioning.
HD: Signs and symptoms
Early symptoms include mood swings or uncharacteristic irritability, apathy, passiveness, depression or anger. These symptoms may lessen as the disease progresses or, in some individuals, may continue and include hostile outbursts or deep bouts of depression.
HD may also affect an individual’s judgment, memory and other cognitive functions. Early signs may include difficulty with driving, learning new things, remembering a fact, answering a question or making a decision. Some people with early HD may even display changes in handwriting. As the disease progresses, concentration on intellectual tasks becomes increasingly difficult.
“People kept telling me that I was tired and disorganized because I was a first-time mom, but I had a feeling there was more to it than that.”
—Laurie ClayHDSA
In some individuals, the disease may begin with uncontrolled movements in the fingers, feet, face or trunk. These movements are signs of chorea, an abnormal involuntary movement disorder that often intensifies when the person is anxious. HD can also begin with mild clumsiness or problems with balance. Some people develop choreic movements later, after the disease has progressed. They may stumble or appear uncoordinated. Chorea often creates serious problems with walking, increasing the likelihood of falls.
The disease can reach the point where speech is slurred and vital functions, such as swallowing, eating, speaking and especially walking, continue to decline. Some individuals become unable to recognize other family members. Many, however, remain aware of their environment and are able to express emotions.
HD means major lifestyle shift for patients, families
Because Laurie’s cognitive and motor functions were already affected by the disease, she and her son Michael moved in with Marie Clay in 2001, while Harris, a security guard who worked two jobs, moved into a room at a Virginia Beach hotel where he was employed. Laurie and Michael decided not to marry because she was told she would lose her health benefits if Michael’s salary was factored in.
When Laurie and her son moved in, Clay was already caring for her ex-husband Phillip, whose diagnosis of HD in 1998 occurred several years after their divorce. “I checked in on him many times for the sake of our children,” says Clay. After emergency room doctors discovered 32 blood clots on Phillip’s brain due to repeated falls, Clay decided to become his guardian. “But once Laurie was diagnosed, I could not handle the responsibility of caring for both of them, so I brought Phil to a nursing home in New York where our youngest daughter Kelly took over his care,” says Clay. In May 2006, Phillip made the decision to have his feeding tube removed. He died days later at the age of 57, surrounded by Clay, Laurie and Kelly. “We told him we would be OK, and it was OK for him to go into God’s arms,” says Clay, tearfully. “Moments later, he drew his last breath.”
Since Laurie moved in with her mother in 2001, the disease has steadily robbed her of the ability to do the simplest tasks. She is unable to multi-task, has little short-term memory, and her speech is slurred and slow. She must drink from a straw at all times to prevent choking and is slowly losing control of her facial muscles, which makes it difficult for her to smile. Laurie also deals with constant neck pain, and it is uncomfortable for her to sit for any length of time or to lie down. When she lifts her arms and hands to wash her hair, she tends to lose her balance. Her motor skills have deteriorated so much that it is difficult for her to brush her teeth, stir cake batter or cut paper. Helping her son Michael with his fifth-grade homework is nearly impossible, and her lack of balance causes her to struggle with reaching into cabinets or taking laundry out of the washing machine or dryer.
“[All parents] love their child,” says Clay, “but when you see your child’s personality change and [her] health go down the tubes, and [she] struggles with simple everyday things, you feel like someone sucked the air out of you. Laurie had such high aspirations for life with Michael and their son, like any young woman. I am trying to be the strong one for her, but there are days I just need to have a good cry.”
Reaching out for support
Marie Clay founded a Huntington’s disease support group in Virginia Beach last September.Emery O’Connor of Virginia Beach also had difficulty making it to the meetings in Newport News, and she now attends Clay’s Virginia Beach support group. Her grandmother died from complications of the disease, and her father and four of his 11 siblings have it as well. “[It] always weighed on me that I had a 50-percent chance of having this, and when I experienced common things that everyone [with HD] experiences like anxiety, restless legs or the occasional loss of balance, I would automatically assume it was because I was in the early stages of Huntington’s,” says O’Connor, who is 38. “From 1995 to 2005, I cancelled at least three tests to see if I had the gene because I was scared. When I finally got the test, it came back negative, but I did it very wrong. I never had the counseling you are supposed to have.”
The HD gene and genetic testing
“It’s like throwing a pebble in the pond,” a UVA geneticist says of testing for HD. “There are a lot of ripples that come out from this decision.”
The decision to have the testing or not is a difficult one, according to Louise Vetter, chief executive officer of the Huntington’s Disease Society of America (HDSA), a national non-profit health agency based in New York that is dedicated to finding a cure for HD. “The disease has so many layers of implications [for] the family, because it is not just the person with the disease, it is the risk it places on other members of the family,” says Vetter. “That decision—do you get tested? don’t you get tested?—what does that mean? If you do test positive, is there going to be a meaningful treatment or cure in time for the person waiting for the disease to become symptomatic? It is all so difficult.”
The HDSA recommends that at-risk individuals who are considering genetic testing do so at a testing center that follows HDSA guidelines. These centers require the at-risk person to meet with professionals who are knowledgeable about HD for one session devoted to each of the following: genetic counseling, a neurological exam, a psychological interview, discussion of the results and follow-up. The genetic test itself takes several weeks and is performed on a blood sample.
Laurie’s son Michael has a 50-50 chance of developing HD; Laurie and her fiancee Michael Harris say they will encourage young Michael to get tested for HD when he turns 18.
Genetic testing for children is typically prohibited before age 18, as a child may not understand the full implications of testing and may be vulnerable to pressure from others. However, after a thorough neurological exam, a child under the age of 18 may be tested to confirm a diagnosis of juvenile-onset HD. (Fewer than 10 percent of individuals with HD develop symptoms before age 20.) In accordance with this recommendation, Laurie and Michael have decided that when their son Michael is 18 years old, they will allow him to decide whether or not to be tested for HD.
Virginia home to “Center of Excellence”
HDSA Centers of Excellence serve as a focal point for care of people and families affected by HD. Their mission is to provide expert care, participate in research initiatives for the care and cure of HD and educate the community and medical providers.
Patricia Allinson, genetic counselor and program coordinator at the UVA HD program, says getting tested for HD requires more than having blood drawn. “Before the person gets the test, we try to get the person to think about how a positive test result will affect their career, marriage plans, childbearing plans, their finances—it’s like throwing a pebble in the pond,” says Allinson. “There are a lot of ripples that come out from this decision, and we feel that [anybody who is considering testing needs to be thinking and role-playing] about what it will be like at the end to hear that yes, you did inherit the gene. We hope that they’ve done the work and we’ve done our jobs to help them be as prepared as they can be to hear that information.”
The realities of testing positive for HD
After his retirement in 2003, Keith had the test done and was officially diagnosed with HD. “We already knew in our hearts at that point that he had it,” says Hoback. “He had already begun with the nervous ticks and issues with his speech. It’s been a long, hard road filled with secrets and fear to try and protect our family.”
Dr. Karen Thomas, a neurologist with Sentara Neurology Specialists in Virginia Beach who underwent fellowship training in movement disorders, says the couple’s story is all too familiar. “It’s a very unfortunate situation, but it exists—that’s the way our system is,” says Thomas. “People with this disease will have their insurance taken away from them. It affects their potential for employment or their current employment. There are a lot of serious ramifications for just getting tested—so much so that many pay out of pocket to get it done.”
Despite all the negatives that come along with an HD diagnosis, for both the individual and that person’s family, Louise Vetter of HDSA says there is a distinct feeling of optimism and hope among many in the HD community. “I am overwhelmed by the strength that I see in the individuals who are living with HD, by the caregivers taking care of a spouse or parent or a child and their perseverance to move forward, and by the strength and hope that if we just keep moving forward there is going to be meaningful treatment and a cure closer than you think. That is just incredibly heartwarming. Unlike any health issue that I am familiar with or have been involved with, the sense of community around families facing Huntington’s is truly unique. It is a relatively small community, and they are constantly working together to support research, to make sure that the best access to clinical care is out there, and there are very active online groups. It is just a family in a very different way. They are committed, they are driven, and they are really, really strong.”
Another person encouraged by the progress made with HD is local neurologist Dr. Thomas Pellegrino, who was Laurie Clay’s doctor before becoming a full-time faculty member at Eastern Virginia Medical School in 2006. “There is much more information available than when I began practicing in this field 30 years ago,” says Pellegrino. “I think with advocacy groups like HDSA making the disease much more widely known, the number of resources available to people with the disease is much greater than it used to be, so people are much more aware of it than 25 to 30 years ago. For years and years, it was a frustrating field to work in. Research money is partially conditioned by how common the disease is, but it is also in part conditioned by how much progress is being made. Once you start to learn something and feel like you are getting somewhere, it is easier to start getting people interested in it. Public awareness is key.”
Increasing public awareness of HD is something that Marie Clay and her family are committed to until there is a cure. Clay, along with the other members of the Virginia Beach Huntington’s Disease Support Group, raise money for research and for the UVA HD clinic through Green Planet Fundraising, an organization dedicated to improving the planet one tree at a time. Says Clay: “They are providing us with an environmentally responsible opportunity to raise money for research.” For every $10 donation toward sponsoring a tree, HDSA receives $5. The money raised by this effort will go directly to UVA and will be used to help fund continued research to find a cure for Huntington’s disease. Green Planet Fundraising will use its half of the donation to purchase, plant and maintain a tree.
As for Clay and her daughter, they will continue to deal with the disease as best they can and continue fighting to be heard, not just for themselves but for everyone who either has HD or tests positive for the HD gene.