It looked like a normal day, but it didn’t feel like a normal day. On the way home from getting his Huntington’s disease testing results, Jordan turned off the radio and rode home in silence with his best friend. The silence focused him and calmed him.
Eight years earlier when his sister found out she had HD, the neurologist blurted it out on the speaker phone. Jordan panicked when he heard she was gene positive while his sister felt relief to have her suspicions confirmed.
After helping his Mom through her stages of deterioration and dreading going through the process again with his sister, Jordan still wanted to know his fate, but wanted to do it in a way that avoided more anxiety. He wanted to feel that his life was going to be okay no matter what his future held. His chose to go through a pre-testing counseling program offered by HD Reach to help him learn to make decisions based on reality, not fears. The preparation for this life altering decision included developing coping skills that were geared for people with HD in their family. Because HD Reach is a stand-alone nonprofit that doesn’t take insurance, everything about the test was confidential. He even gave the phlebotomist the name of his 9th grade teacher who told him his graphic designs were “unsophisticated”.
HD Reach, a pioneering organization that helps people impacted by HD, launched an anonymous genetic testing program that includes extensive counseling to develop coping mechanisms and build resiliency. This unique program was developed to coincide with the advances in finding the first-of-its-kind treatment to slow the progression of the disease.
Learning your gene status after a lifetime of hating, fearing, dreading this disease is not easy. In 2017, Dr. Mary Edmonson a noted psychiatrist who has developed many of the mental health protocols for treating the cognitive and behavioral aspects of HD, developed a counseling program to help at-risk individuals navigate the decision-making process. In 2019, HD Reach, the organization Dr. Edmonson founded to help people impacted by HD, launched an anonymous genetic testing program that includes a four-part process to build decision making skills, develop coping mechanisms and build the necessary resilience to handle the results.
Anyone can feel stressed when facing an uncontrollable disease. Specific coping strategies have been identified that are associated with resilience and well-being. For instance, you can develop the skill to accept (rather than deny) the source of the stress, learn to think about HD in a less negative way, and learn about positive ways to distract from the uncontrollable stress.
How do they test for Huntington’s Disease?
Because HD is a hereditary disease, accurate testing to predict if someone will develop the symptoms is possible with a small blood sample. Blood samples are sent to labs where clinical scientists read how many times the proteins, CAG, repeat. Everyone’s genes have a CAG repeat, but if there are 40 or more CAG repeats an individual will develop the symptoms of HD at some point in their lifetime and any of their children will have a 50% chance of getting HD.
The blood test is simple and only takes a few minutes. Since the analysis takes place in a lab, it can take several weeks to get the results back. The waiting period is rather tough but can be made easier by talking to a social worker, attending a support group meeting to talk to people about how they handled the wait, checking out HD Youth Organization’s worldwide Facebook Group (it’s for people who are up to 35 years old) or finding some other healthy distraction. The test itself is rather simple. Everything else is not.
Does it matter if the HD test is anonymous?
At HD Reach test results are not completely anonymous. The client works closely with a counselor and talks to a psychiatrist. Clients are also strongly encouraged to have a testing partner to go through the process. It’s called an anonymous process because the client chooses who knows that they are testing. Outside people like the lab workers and the phlebotomist will only know a fake name supplied by the client.
Control over who knows the results can be really a big deal. Individuals know who will be most supportive and when it’s best to tell other people. And if someone is not sure about the who or the when, the counselor will help develop the skills to figure out the answers to these questions. Some people wonder if they can avoid telling insurance providers about HD. If they don’t ask, you don’t have to tell. However, if they do ask, there is an ethical responsibility to answer honestly. For that reason, insurance decisions should be squared away before starting the testing/counseling process.
The test itself is rather simple. Everything else is not.
If someone has a parent with HD, they have a 50/50 chance of having HD. It doesn’t matter if all of the siblings test positive or negative, chances are still 50/50. You won’t know your genetic status until your counselor shares the lab results.
Why Test Now?
Everyone’s answer to that question is different. However, expectations are that a lot more people will ask because there is a lot of buzz about a new treatment to slow the progression of the disease. There is currently a drug (that is administered into the cerebrospinal fluid through a lumbar puncture – that means a needle is inserted into your back) going through clinical trials that may prove to safely and effectively lower the huntingtin protein in humans. The question remains – will lowering the protein slow the progression of the disease? Thanks to a large number of participants involved in the trial, we should get the answer to that question in the next few years. If this treatment doesn’t work, there are about a half-dozen other approaches also being tested.
Knowing your gene status may allow participation in a clinical trial. While participation does not mean receiving a beneficial treatment (there will be a control group or the treatment could have harmful side effects), it does help with making progress toward developing a helpful treatment. One way to participate in research, but not learn gene status, is to take part in the international EnrollHD study. This study collects information for research purposes and acts as the recruiting grounds for new clinical trials.
What do I do if I’m Gene Positive?
Take a few deep breaths and then when ready, start working through this list of ways to help plan for the future, feel good and live well with HD.
- Join a support organization: HD Reach has face-to-face Support Groups that have a general membership (people are at all places on their HD journey); HD Youth Organization has a large online presence designed for people under 35; HDSA has many online support groups and is starting one for Spanish speakers.
- Get involved with clinical trials.
- Fundraise to help people who are fighting the disease.
- Use expressive writing to write through the challenges and find the happier thoughts. Craft your own life narrative and gain a sense of control.
- Face your fears – slowly, over time, learn about what you fear most.
- Practice self-compassion by offering compassion to yourself and being mindful (notice and identify what you’re feeling); remember you’re not alone – everyone suffers from some issue; be kind to yourself.
- Meditate. Our most painful thoughts are usually about the past or the future. As someone with HD in their family, you’re likely to experience many painful thoughts. You may ruminate about how your childhood was impacted by loss and you may be anxious about your future. When you pause to think about the present, you will probably realize that everything is okay right now. Mindfulness-based stress reduction techniques help you deal with negative emotions and have wide-ranging health and psychological benefits.
- Exercise. The list of reasons to exercise is long and includes relieving stress and building muscles that help with balance and coordination.
- Build a team of experts to help navigate through the stages of HD. Finding a good psychiatrist or psychologist could be helpful in the beginning, then think about finding a neurologist and other specialists.
- Stop smoking – the list of reasons is long and not all are related to HD.
- Eating healthy helps you feel better. Using unhealthy foods and alcohol to cope with HD will backfire. Being overweight, having high blood pressure, diabetes or other health factors may disqualify you from trials and treatments and make your HD symptoms harder to treat. You control what you consume and making good choices will have positive consequences.
- Watch out for depression. Become aware of the signs of depression and have a therapist available to talk you through the darker moments.
- Plan for end-of-life decisions. While we hope for treatments that will make this unnecessary for a long time, you can plan for the future by spelling out what you want when you’re journey with HD is at its end.
The journey with HD is long and challenging, but there are exciting new paths ahead. Each day new information is learned and new approaches are tested. The HD club may not be one you want to join, but once you do, you will find a lot of people living well with HD and eager to help a fellow member of the community.
To learn more about HD Reach and the HD Reach Anonymous Genetic Testing Decision Path and Testing Path, visit www.hdreach.org.
HD reach was established in 2009 to help people impacted by HD gain access to information, knowledgeable health care and community support.