Teens 13-17
What is Huntington's Disease
Huntington's Disease (HD) is a hereditary illness that causes damage in a certain part of the brain. This stops the brain and body from working as well as they used to, and affects a person's movements, thoughts and behaviour. People generally start to develop symptoms of HD between the ages of 30 and 50.
The part of the brain that is affected is called the basal ganglia (say: bay-zul gang-lee-ah). This is a very important part of the brain that co-ordinates a lot of the information that's whizzing around. HD causes brain cells in the basal ganglia to deteriorate and die. This means that it can no longer co-ordinate information as efficiently, so the messages being passed through the brain don't always get to the right place, or get lost along the way.
Think of your cell phone, sometimes you get a signal no problem. But at other times, the signal gets cut off halfway through or even worse, sometimes you cannot get a signal at all.
Having HD is a bit like this, sometimes the messages get through and other times they only get partly through. Other times they just don't get through at all. So some days are better than others.
The brain cells in the basal ganglia deteriorate over a long period of time, in fact it occurs over 15-20 years. During this time the affected person slowly loses different skills and abilities. Because this process happens gradually, the person with HD can appear reasonably well for a long time.
How does HD affect people?
When someone has HD they may change and behave differently. They may not be able to walk and talk as well as before, and they may be more forgetful. Sometimes they may be more bad-tempered and get angry about little things. These changes take a long time to show up and therefore you might not notice them at first.
How do you get HD?
You might have more than one person in your family who has HD. This is because HD runs in families - it is hereditary. This means it can be passed from parents to their children. People might say that you look like other people in your family - this is because of your genes. Genes are passed to you from your parents - that's why you might have freckles like your dad, or brown eyes like your mum. You have about 30,000 different genes in your body.
Genes are sections of DNA carried on your chromosomes. These genes are all different, and are programmed with different information. They decide things like the colour of your hair and your eyes, how tall you are, etc. They are like a recipe book - your genes are the ingredients that make you uniquely you. Everyone has a different recipe - that's why we're all different shapes and sizes. Most cells in your body have 23 pairs of chromosomes. Each parent gives you 1 chromosome in each pair. Our genes are strung out along our chromosomes and there are 100s of genes in each chromosome. We have 2 copies of each gene as well - one from each parent.
People can be identified because of the differences in their genes and the DNA that makes them.
Sometimes there are errors in our genes; as a result they don't work properly. In people with HD, a faulty gene causes things to go wrong in the brain. If a parent has HD, they have 1 copy of the faulty gene and 1 good copy. They may pass either of these on to their children. Their children therefore have a 1 in 2, or a 50% chance of inheriting the faulty gene. You may hear people say that you are "at risk" - this just means you have a 50% chance of inheriting the faulty gene. If your grandparent has HD that means your parent is at 50% risk. If they do not have the faulty gene, then you are no longer at risk. Does that make sense?
The specific gene that causes HD was identified in 1993. It is located on chromosome 4. No one knows exactly how this faulty gene causes HD; there is a lot of research going on all over the world to try and find out. Somehow having the faulty gene causes the build up of a protein called Huntingtin in some of the brain cells, which in turn makes them deteriorate and die. Once we know how this works, then we can try and find a way to stop it from happening or at least slow it down. We know a lot more about the HD gene now than ever before; different medications and approaches are now being tested. So keep that chin up, the future looks positive!
How do people develop symptoms of HD
No one is one hundred percent sure about what causes HD. Like we said above, we are fairly certain that the damage in the brain is caused by a build up of a protein called Huntingtin. Over time, the cells in a certain part of the brain slowly become sick due to this protein build up, and as a result they no longer work the way they were originally designed to. This damage to the brain cells is what causes all the changes in people with HD.
Most people only start becoming unwell when they're older because it takes a long time for the protein to build up in the brain cells. As a result, someone with HD might not show symptoms for years. They live normal lives like everyone else - they have careers, get married, travel, etc.
How do I cope with living with HD?
It can be hard when someone you love has HD. There are so many changes that happen to people with HD that you must learn to deal with. Everyone in the family may have to do things they aren't used to doing. Most family members become caregivers, no matter how young they are; everyone pitches in to help out. Eventually your parent with HD may have to give up their job when they become too unwell to work. This can have a big impact on everyone; there might not be as much money around and you may have to help out even more. It is very important that everyone helps to care for the family member with HD, but it is also important that you all take breaks. Even though you may worry about the person with HD when you're not there, you still need to take a break every once-in-a-while to have some fun, reload and recharge.
It can be exhausting looking after someone with HD all the time. After a while, they may move into a special home (nursing care facilities) because they need looking after all the time and need specialist care. You can always visit them, and this way they get all the care they need, whenever they need it.
Sometimes, your friends, neighbors or other people in your community might not understand why your parent with HD is acting differently. This is a perfect opportunity for you to explain Huntington's Disease to them. Many people don't know until you tell them.
You might also worry a lot about whether you have the faulty gene. Maybe you've been a bit clumsy one day, or a bit absent-minded. It is important to know that everyone gets like this sometimes; it doesn't mean you have the faulty gene. We all have "off days", but it's hard not to worry when you're living with someone who has HD. If it's on your mind, talk to someone about your concerns; maybe your guidance counselor at school, or one of your parents or cousins. Any and everyone who's grown up in a house with a parent or family member with HD has felt this way. Ask them for their help.
It is important for you to talk about how you feel to people you trust. People in your family, friends and teachers need to know what's going on so they can try and help you. The more people you have around you who understand what you're dealing with, the more help you can get. It's good to have someone to talk to!
Looking after Yourself
It's very important to take good care of yourself when difficult things are happening.
Make time for things you enjoy - hanging out with your pals, going to movies, shopping, going for a run, playing your computer, remember to still have fun!!
Talk to people about how you feel, good friends, family, people you can trust. Don't keep your worries to yourself!
Make sure you get the information that you need - ask questions if you're not sure what something means.
Remember you are not alone, there are lots of other people living with HD. If you want to chat on-line with other young people who have HD in their family, register for our chatroom/forum, which will be running soon.
Dealing with Being at Risk
Having a parent or grandparent with HD makes life more complicated at times. You have to think about things most of your friends never have to. Being at risk doesn't mean that your life is over, it just means that you have another factor to think about when making important decisions about your life. You can still go to college, have a career, go traveling, get married - do whatever you want to do!
It can be difficult to decide when to share this information with important people, and particularly when you are in a serious relationship. It's often better to be open with the important people in your life as they can support you when things are rough. Keeping things secret is never easy and can stress you out. Even though it's difficult to talk about, you owe it to yourself to get the support you need, and you might be surprised how understanding people can be! Make sure you choose a good time to bring it up, when you've got time to talk and are feeling calm. Remember though, it's up to you who you choose to tell and when. Trust your judgment, if it feels right for you, go for it!
Genetic Testing
Now that scientists have discovered exactly what the fault is in the HD gene, it is possible to be tested to see if you have the faulty gene. You have to be 18 to have the test and it involves giving a blood sample. The process takes about 3 months and involves the chance to talk about any concerns with a genetic counselor. Tests are carried out in most major cities.
Deciding to take the test is a very personal decision, some people want to know and others prefer to live without knowing. It's up to each individual to think about what it means for them and how the knowledge of having or not having the faulty gene will affect their life. Talk through your thoughts with family and friends before making any decisions, and remember you can change your mind about it at any time, even after you've given your blood sample. Don't rush into anything until you've explored all the options and are ready to make an informed decision. Talk to people in our forum about what you are feeling. Most of us have been in your shoes.
Being at risk and wanting a family
Everyone has to decide for themselves whether they want to have children. If you have the faulty HD gene, your children are at 50 per cent risk of also having the gene and developing HD in the future. Some people are prepared to take the risk in the hope that by the time their children become adults a cure will have been found or better medication will be available.
There are options available these days to reduce the risks of passing on the HD gene. Once a person is pregnant, the fetus can be tested to see if it has the faulty gene. This is called Prenatal Genetic Testing. This would be done at a genetics centre and you would speak to a genetics specialist beforehand to talk through all of your questions and concerns.
There is also a procedure using In-Vitro Fertilization (IVF) techniques that is available in some places. This is called Pre-implantation Genetic Diagnosis (PGD) and uses IVF techniques to fertilize the eggs in a laboratory and test them for the changed gene. Only embryos that are free of the faulty HD gene would then be implanted into the womb, thereby making sure the baby will be free of the changed gene. Like all IVF procedures this can be a lengthy process, and can also be very expensive.
Other options for having children include using a donated egg or sperm or even adoption.
So there are options to consider when you're thinking of having children. Talk things through with your partner, family and friends, and speak to a genetics specialist to get more information so you can make the right decision for you.
Hopefully we've been able to answer your questions. If you still aren't sure about something and you have a question, shoot us an email at ypahd@yahoo.ca
