Understanding the "why" matters as new clinical trials testing therapies for people who haven't yet developed symptoms of Huntington disease requires participants to be tested for the HD gene to be included in the trials.
The study, published today in Clinical Genetics , also suggests that individuals who have chosen not to be tested can benefit from supportive counseling, which is not usually offered. She says, "For those who want testing and are ready to cope with the result, either positive or negative, it is our duty to help them get this information so they can make decisions about future care, financial planning and, possibly, study participation.
Huntington's disease is caused by an inherited defect in a single gene. Inheritance is autosomal dominant: only one copy of a mutated HD gene is needed to pass on the disorder, thus the chance of inheritance is 50 percent. A person inherits two copies of every gene, one from each parent. A parent with a defective gene can pass on either a mutant or healthy HD gene. The disease produces progressive degeneration of nerve cells in the brain, which affects the ability to move and think, and often results in depression and other psychiatric disorders due to functional changes in the brain.
To date, there is no cure for the disease and no way to prevent its onset. It is always fatal. People who have the HD genetic mutation expansion will develop HD unless they die of other causes before it develops. Anderson says there are effective treatments for the symptoms, and a "pipeline" of drugs that may alter the course of the disease are now in clinical testing.
Among them are gene silencing techniques that may lower the level of abnormal protein that is produced by the HD gene. The age at which a person with the HD genetic mutation develops the disorder depends on the number of times a coding mistake in the gene is repeated.
Symptoms in adults can begin as early as age 20, or, more likely, in mid-life, ages Onset after age 80 has been reported.
But it is unlikely to help you in the long run to keep this to yourself. As has been highlighted, testing is an incredibly emotional journey - you will need support during this process. Do not face it alone if there is no reason to - this is hopefully a time for the family to all get behind the person testing and support each other. For people testing who have siblings either at-risk, already tested or symptomatic, testing can be an even tougher experience.
Imagine testing negative if one of your siblings had already tested positive - how do you tell them your news? But it does not have to be, as one family highlights:. I desperately wished they could have had the same result. It seemed so unfair how the disease picks and chooses whom it will take, and whom it will leave behind to witness the devastating effects. But as I rang each one of my wonderful brothers, they were thrilled and cheered down the phone. Support is the key, whatever the results as siblings you should use this as an opportunity to become closer and even more supportive.
Talk about the worries you have with your siblings, express your concerns about how the family will react to your results before you get them - be prepared as a family. Having contact with other young people that have been through testing can be an excellent source of support during the testing process and that is a support option that you may find on the our Facebook Group. Positive or negative, the day you receive your result may feel like the most surreal day of your life and it is important that you take the time to accept your result.
The process of acceptance can only be done gradually over time. Both results will bring with them different emotions and different hurdles in the future.
Testing positive raises some more obvious issues, but testing negative also has its complications for people. Both are discussed in the sections below. Do not be surprised if it takes you many months to feel like yourself again, these things do take time and it is important not to expect too much from yourself after your result. As was highlighted in the main testing section, accepting your results can only be done gradually over time. But I was always looking to move forwards and accept my results, and gradually I started to make progress.
Now, 3 years later, I am very happy with my life and have accepted my results. It is important to remember that you are able to have follow-up appointments with your genetic counsellor anytime you want to discuss your result and how you feel.
This can be very useful and the counsellor will be happy to go through any issues that are on your mind. You also need to think about who you are going to inform about your results.
Telling friends or work colleagues is really only something you can decide upon. The lack of understanding about the disease can cause issues, will they understand?
Will it affect how people view you at work? Why not go travelling, or change your career, begin a new fitness regime or have a fresh new start in life! Testing positive can be great motivation to get out there and experience life. Again, it may take time to find that motivation, but once you have it you can really make the most of things. Another important issue to remember is that testing positive may change the way you see things in life.
As one young man explains:. It was really difficult to deal with at first, but after a while I settled down again and things got back to normal.
Time really does help, and you may not feel like you have a lot of it right now, but be assured you still have plenty of time to enjoy life. You may want to help by participating in research yourself, it can be a very rewarding experience and many feel they are being productive by participating in research studies.
Click here to find out more about how you can help with research. But stay positive and keep moving forwards and you shall continue to achieve in life. Remember that you have always had the expanded gene; the only difference is that you know this now. It may take several weeks to receive the results once the genetic test is complete. Genetic testing for children is typically prohibited before the age of 18, as the child may not understand the full implications of testing and may be vulnerable to pressure from others.
However, a child under the age of 18 may be tested to confirm a diagnosis of juvenile onset HD after a thorough neurological exam. For families wishing to have a child who does not have the gene that causes HD, there are a few options.
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