At Risk of Huntington’s Disease
Some families may already be familiar with HD because they have relatives with the illness. Others may have never heard of HD and may be shocked by a diagnosis in the family. Every child conceived naturally to a person who has Huntington’s disease has a 50% chance of inheriting or not inheriting the illness. While it is obvious that people who have HD face difficulties in living with their illness, people who are at-risk may also experience significant challenges. It can make a big difference if you know what help is out there and get the support and information you need. It can also be helpful to meet others in the same situation for peer support.
A genetic (predictive) test is available to determine whether a person has or has not the gene that causes HD. You usually need to be over eighteen years of age. Taking the test is a personal decision and varies from person to person. Genetic counselling is available prior to testing and provides an opportunity to consider and understand the possible outcomes, the resources you may need, and whether the decision to take the test is the right one for you at that time. Details on genetic counselling and testing are available from; The Department of Clinical Genetics, Our Lady’s Children’s Hospital, Crumlin, Dublin 12. Tel: (01) 409 6739, Website: www.olchc.ie
Following a gene test result, it is common to experience emotional ups and downs. People with a negative result may experience ‘survivor guilt’, particularly if other members of their family have received a gene positive result. HD is often referred to as a family disease and it is important to recognise that each family member, whether they have HD or not, will be impacted by HD.
A genetics clinic can provide information on family planning options. Pre-implantation genetic diagnosis (PGD) can help couples with a known risk of a genetic condition avoid passing it on to their children. It involves undergoing in-vitro fertilization (IVF) treatment to allow embryos to be tested before they are implanted in the womb. PGD is an expensive and time-consuming way to become pregnant and carries risks associated with IVF.
- Our Story of PGD - Hope Annual 2015
- Our Experience of PGD - Hope Annual 2016
- Presymptomatic Testing for HD - Dept. Clinical Genetics, OLCH
- Predictive Testing Recommendations
- Pre-symtomatic Testing, Professor Kieran Murphy Hope Annual 2009
Gene Positive family members
Receiving a gene positive predictive test result may be overwhelming immediately afterwards. It is often very difficult to recall what was discussed. The results may become more real in the days and weeks that follow. It is important to realise that emotional turmoil is quite normal and will usually ease considerably as day to day life takes over once again. However, if you experience continuous anxiety or are unable to sleep you should speak to your genetic counsellor or GP. HDAI can also provide support.
HD is typically a slow progressing illness. As a result, you could have considerable time to carry on as per usual after a genetic test diagnosis. As yet, there is no effective treatment to delay or slow down HD, but there are ways you can help yourself and learn to manage your disease.
The more informed you are, the better you will be able to understand what the disease is all about and plan ahead. Learning and understanding how the disease progresses will help you adjust to any changes you may experience. There is a vibrant international HD community working together to find effective treatments and improve standards of care. More is known about HD today than at any time in the past.
Significant progress has been made by researchers world-wide to understand HD and to develop potential therapies to halt or reverse the disease. There is now greater hope than ever before that therapies will be found to fight Huntington’s disease. HDBuzz is an excellent research news resource. Enroll-HD gives all HD family members an opportunity to help advance HD research.
Studies suggest that by leading a mentally and physically healthy and active lifestyle, you can delay the onset of symptoms. Keeping physically and intellectually active, maintaining a healthy diet, enjoying life and avoiding excessive stress will have a positive impact for people at risk. Tips include:
- A healthy diet – fresh, nutritious, well-balanced meals
- Regular exercise – aim for 30 minutes 3 times per week - can include walking, gardening, dancing, yoga, Tai Chi etc.
- Mental Stimulation – new learning, puzzles and crosswords, reading aloud etc.
- Adequate Sleep - remove distractions from the bedroom, use relaxation techniques
- Avoid Brain Toxins – alcohol, smoking, overly processed foods etc.
- Mindfulness and Relaxation Centre at Beaumont Hospital
- Hello Brain
- Dr. Niall Pender, Clinical Neuropsychologist Beaumont Hospital: Coping with the Emotional and Cognitive Challenges of Huntington's Disease - video below.