Patient Worthy signed up to cover several sessions at the Huntington’s Disease Society of America’s (HDSA) 36th Annual Convention, which was held virtually this year. This event features informative presentations and info sessions about the latest Huntington’s disease research geared towards the Huntington’s patient community.
One of the sessions we attended was titled “A Big Decision: Considerations prior to genetic testing for HD.” This program was focused on the difficult decision of getting a genetic test for Huntington’s disease. As the illness is inherited in an autosomal dominant fashion, the child of a patient has a fifty percent chance of having the disease.
This session was presented by Erin Nordquist, MS, CGC, a genetic counselor.
Huntington’s disease is a heritable disorder that causes brain cells to die. This is a long-term, progressive, and ultimately lethal disease that causes severe debilitation over time. The disease is caused by a genetic mutation that affects the HTT gene. It normally appears between 30 and 50 years, but in rare cases, it can occur before age 20. Symptoms of Huntington’s may first appear as subtle mood and behavioral changes and loss of coordination. Other symptoms include random movements called chorea, abnormal posture, sleep issues, trouble chewing, swallowing, and speaking, dementia, anxiety, depression, and impulsivity. Nine percent of deaths are the result of suicide. Treatment for Huntington’s disease is symptomatic, with no cure or disease-altering therapies available. Most patients die around 15 to 20 years after their diagnosis. To learn more about Huntington’s disease, click here.
Learning that you have or will eventually have Huntington’s disease is a big and scary moment. With no cure available, it can be frightening knowledge to live with. Dr. Nordquist says that the majority of people who may be at risk for the illness decide not to have predictive genetic testing done. Overall, the decision to get tested is a highly personal one and there’s really no ‘right or wrong’ decision.
Most people who decide to get tested do so in order to help themselves plan for the future. Others simply want the clarity that comes with understanding their status. The tests are conducted by measuring repeats of the trinucleotide CAG. Those with more than 28 repeats are considered unstable, and may experience at least some symptoms; those with 36 or more are considered to have the disease fully.
For those that opt for testing, having realistic expectations are important. Recommendations include:
- Conducting the process in multiple steps.
- Educating oneself about the process in advance and learn more about your family’s medical history.
- Meeting with a genetic counselor before beginning testing, weigh the pros and cons.
- Meeting with a professional to review your results, and planning follow-up as necessary.
- Ensuring that you have a person supporting you throughout the testing process.
Other considerations include cost, which often runs between $300 or $400. Office visits and travel may make the process more costly. Confidentiality is also important, and you should ensure that any facility that you visit for testing is prioritizing this. You should also be comfortable with your life insurance, disability insurance, and long-term care insurance coverage, which could be impacted by a positive result.
Getting results takes about a month. While test results may predict whether you will experience symptoms, they cannot tell you when your symptoms will begin or how they will progress. The intermediate results, or ‘reduced penetrance’ results, are even less clear as it is impossible to determine if these individuals will develop symptoms or not.
All in all, getting tested should be done at a time when you have the capacity to handle the implications of the results. It should not be taken lightly and should be done with careful thought, compassion, and consideration.