It began when she was sixty. She could not keep her head from involuntary bobbing and she began to lose her equilibrium. Her CAG count was 41. As it progressed, the ghosts began to haunt her, follow her, her speech slurred, appearing inebriated and she could not eat. Her mind and her heart could not hold out any longer; passing away only a few months short of her 80th birthday.
It is this month that hosts the 29th annual Huntington’s Disease Society of America Convention on June 20th through the 22nd in Louisville, Kentucky. It was only in 1993, the HD gene was isolated and a genetic test was developed to determine the onset of Huntington’s. Experts estimate that about one out of every 10,000 people have Huntington’s Disease.
A mutation that causes Huntington’s involves a series of three DNA building blocks that include cytosine, adenine and guanin. These are also referred as the CAG count because they appear multiple times in a row. The normal count is 10 to 35 times within the gene. Those with HD have been found to have a higher CAG. People with counts between 35 and 39 may or may not develop symptoms while people with a count of 40 or higher almost always develops this disorder. Repeats have been seen as high as 120 and some studies suggest that, the higher the repeat, the earlier the onset. A common perception is that the earlier the symptoms, the faster the progression. However, conclusions are still being debated.
Unfortunately, Huntington’s does not skip a generation. Children have a 50 percent chance of inheriting the gene with cases seen as early as two years of age. However, if the child does not have the genetic defect, they cannot pass down to the next generation. Though research has suggested that a small number of cases are sporadic.
Huntington’s Disease is a hereditary brain disorder with no cure and only one FDA-approved treatment, Xenazine, for symptoms of HD. According to the Mayo Clinic, Huntington’s disease is associated with many symptoms that include movement issues and cognitive impairments as well as depression. However, the range and severity of symptoms can be endless. No two people with Huntington’s experience the same as far as onset and progression.
· Involuntary jerking or writhing movements (chorea)
· Involuntary, sustained contraction of muscles (dystonia)
· Muscle rigidity
· Slow, uncoordinated fine movements
· Slow or abnormal eye movements
· Impaired gait, posture and balance
· Difficulty with the physical production of speech
· Difficulty swallowing
· Difficulty planning, organizing and prioritizing tasks
· Inability to start a task or conversation
· Lack of flexibility, or the tendency to get stuck on a thought, behavior or action (perseveration)
· Lack of impulse control that can result in outbursts, acting without thinking and sexual promiscuity
· Problems with spatial perception that can result in falls, clumsiness or accidents
· Lack of awareness of one’s own behaviors and abilities
· Difficulty focusing on a task for long periods
· Slowness in processing thoughts or “finding” words
· Difficulty in learning new information
Individuals that decide on testing believe the test will enable them to make more informed decisions about the future. Others choose not to take the test. They are able to make peace with the uncertainty, afraid that will not be able to emotional handle the negative, as well as possible losses of insurance and employment. There is no right or wrong decision, but HDSA recommends that you discuss genetic testing with a trained counselor before making a decision to test.
Disability Social Security Insurance is available for those with Huntington’s who cannot work and the Genetic Information Non-Discrimination Act (GINA) made it illegal for health insurance companies to deny coverage or to charge a higher rate as well as employers using any genetic information when making employment decisions. But GINA only applies to health insurance.
So, what about long term care insurance?
Many insurance companies are re-designing their underwriting process that can include higher rates and require genetic testing but only if it is recommended by a physician.
As far as life insurance, genetic testing is not always conducted during a life insurance exam though, as of today, there are currently no federal regulations that say you can’t be denied due to a genetic disorder. Life insurance companies can ask for genetic testing when it comes to long term care and life policies.
Once again, as this discussion continues concerning insurance companies using genetic testing, it is imperative to look into opportunities while you are young and healthy. You will be protecting the unexpected in the future especially if genetic traits may indicate cancer, Alzheimer’s and Huntington’s Disease later in your life.