Our HD SpaceHelping young people affected by Huntingtons Disease (HD)

Hi Bob,

There are number of options available to people with Huntington's Disease if they want to have children. Please click here for a good overview.

Dear Bob,

Thanks for your question. There are lots of important issues to be considered here.

Firstly, young onset or juvenile HD- which is defined as HD becoming symptomatic at under the age of 18- is very rare. The great majority of people under the age of 25 at risk of HD do not have symptoms of HD. They might carry the gene, but this is not the same as having HD. That is, if you are born with the gene you will not get symptoms until well after birth. The typical age of onset is late 30's to middle 50's. Many people who have the gene for HD assume that they must have HD when they do not and are perfectly well.

Secondly, in the rare cases of symptomatic HD in young people the problems they face include chorea (twitching movements), dystonia (stiff twisting muscles), port balance, stiffness and slowness, anxiety and depression, memory loss and epilepsy. Not all of these problems occur in each young person with HD. Many of these problems respond to medicines and so it is possible to help the person. The exact medicine(s) given depends on the problem. That is, different young people with HD will be on different medicines depending on their specific problems.

HD is a progressive disease and so when it appears it will get worse, even with treatment. However, it is still possible to help people even when they're very sick.

Dear Ricardo,

This is a difficult problem to answer over the net. Many of the symptoms you list are found in HD, but none are specific and all can occur in a wide variety of disorders.

Firstly, is there a family history of HD, even though your parents don't have HD? If there is no family history then HD is unlikely. If there is a family history of HD then the condition is possible, but very rare at the age of 17.

To be absolutely sure the best thing is to see a specialist & preferably one with an interest in HD. The best thing to do here is to get your GP (family doctor) to refer you to a neurologist for a check up. Your local HD association could probably tell you who is the best HD specialist to see locally.

Hi Nicola,

The international guidelines for genetic testing for Huntington's Disease recommend that those at risk of HD should be 18 before they get tested and that it must be there decision to do so. While there is some debate over how old is old enough to get tested, in Australia, those providing genetic testing services stick quite closely to the international guidelines. If you are in Australia, the best place to get advice would be your local HD association. Click here for the contact details for your state.

Hi Dominique,

Thanks for asking your question. While very high CAG repeat lengths have been linked to getting HD earlier, it is not possible to predict at what age someone will get HD based on their CAG repeat lengths (39 in your case). Symptoms sometimes appear very late in life (as in your mother's case) so it is possible for symptoms to come on at 76 years old, earlier, or even later. If you are interested, while there is no existing cure for HD, recent research is suggesting that living a healthy and active lifestyle can protect the brain against HD. For more information click here. I hope this answers your question.

All the best.

Hi Stewart,

Unfornutalely your aunty's gene negative result does not influence your mother's gene status. Because one of their parents had HD they both had/have a 50% chance of inheriting the faulty gene. Regrettably, your mother still has a 50% chance of inheriting HD. If she hasn't shown any symptoms yet that is a really good sign but, again, to be sure she is gene negative she would need to go through the genetic testing process. If you feel the need to get more information you should definitely contact your local HD Association. I hope this helps.

All the best.

Hi Megan,

Unfortunately it only takes one parent to have the gene in order for their children to be at risk. If somebody is gene positive their children have a 50% chance of inheriting Huntington's Disease. For more info click here.

Hi Maggie,

If your aunty has Huntington's Disease then it means that one of her parents (your grandfather or grandmother) was gene positive. The implications for you are that your mother/father (the sibling of your aunt) had a 50% chance of inheriting the gene. If your parent has been tested and is gene negative then it means that they will not be able to pass it on to any of their children. However, if they either haven't been tested or have tested gene positve then there is a chance that you could inherit HD. The best thing to do would be to talk to your parents if you can. Also I'm sure your local Huntington's Association would be happy to give you advice. I hope this helps.

Hi Vicki,

The gene status of your siblings does not imply that you have a greater chance of being gene-positive for Huntington's Disease (HD). If a parent has HD, they have 1 faulty copy of the gene and 1 good copy. They may pass either of these on to their children. Their children therefore have a 1 in 2, or 50% chance of inheriting the faulty gene. The only way someone would have a higher chance of inheriting HD would be if both parents had the disease. For a more detailed explanation click here. Also if you are feeling a bit worried and want some support I'm sure your local HD association would be happy to help you in any way they can.

At present there are no curative treatments. That is, all treatments reduce symptoms of HD, but do not protect brain cells from damage and do not slow the disease down.

Some years ago the human HD gene was discovered. Scientists then became able to put the human HD gene into mice which then got HD. This has allowed lots of exciting scientific studies of the pathway from faulty gene to brain cell damage.  There are currently a number of drugs in the pipeline which have been designed to slow down or perhaps even prevent brain cell damage from HD. Many of these will be tested in drug trials of people over the next few years.

It's too early to say whether or not  these drugs, or those invented in the future, will prevent or slow down HD, but these developments are very hopeful. There is also some research suggesting that living a healthy and active lifestyle can protect the brain against HD to some extent (click here for more info). However, this is by no means a cure.

The best way to keep up to date is to use information provided by OurHDSpace, HDYO, HDBuzz, your local HD organisation and your HD doctor, if you have one.

Hi Jeff,

The best place to get help would be your nearest Huntington's Disease Association. They can help you directly and also put you in touch with the best people for your situation. If you're living within Australia, to find your nearest association visit www.huntingtonsaustralia.asn.au/contact-us.

All the best.

Hi Beth,

First of all that's great news about your gene negative result! In regards to whether your children will still be at risk, it depends on your CAG repeat length which is represented by a number that can fall within 4 main ranges:

1. Gene-negative: If both copies of a person's HD gene contain 26 or fewer CAG repeats they will not develop HD and nor will any of their children.

2.Gene-positive: If at least one copy of a person's HD gene contains 40 or more CAG repeats they will develop HD in their lifetime and each of their children have a 50% risk of inheriting HD.

3.'Reduced penetrance' range: People with a HD gene containing between 36 and 39 repeats are in the ‘reduced penetrance’ range. Some people in this range will develop symptoms of the disease, while others won’t and there is still a risk of their children inheriting the disease.

4.'Intermediate alleles' range: People in this range have repeat lengths between 27 and 35 CAGs. People with an intermediate allele will not develop HD themselves, but there may be a risk of HD developing in their children.

Since you were told that you are gene-negative, I assume that your CAG repeat length would have been 26 or lower, and therefore your children are not at risk of inheriting HD. However, if you're not sure it would be best to speak to your doctor. Also if you want more of an explaination of CAG repeats online this might be a helpful link: www.hdbuzz.net/27.

Nyaa

Aged 14

Hi Nyaa

Thanks for you email. Your question is really hard to answer in this kind of online format, but it sounds like you are a bit worried. Best thing to do if you are concerned about anything is to start with your GP. Pay him/her a visit and you can have a private conversation about anything that concerns you.

Best of luck

Tony

Ali

Aged 16

Hi Alli,

Thanks for your question. It is understandable to worry that the youth workers would tell your family things you don’t want them to know. But youth workers are professionals that have to keep what you tell them confidential, that is, they are not allowed to tell others. If they are worried about you they will talk with you about the importance of telling a health professional such as a doctor about the depression, because as you probably know this can be treated with medication and other supports such as counselling. If they were worried that you have not told a doctor and you might be in danger of harming yourself they could tell a doctor or health professional about their concerns, as a way to get the right help for you. But they should not directly tell your family. Once you are having the right help they can talk with you about whether you want your family to know. The most important thing is for someone to know who can arrange the right support for you – this could either be the youth workers or a doctor, such as a GP. There might also be a youth health service in your area. You could go to the websitewww.youthbeyondblue.com and click on ‘depression and anxiety’ then on ‘Get Help’ for more information.

I hope this answers your question.

Fiona

Anonymous 

Aged 29

Have a read through this site Anonymous and if you want further information, our more links and reading page has a heap of additional stuff. You could also consider contacting your local state HD Association. They can give you heap of info and link you into services in your state. Click on our 'who can I turn to' page.

** Anonymous, we are really sorry we couldn't answer all your questions but please do contact a local association, it sounds like you could do with plenty of advice right now! They are a great starting point**

Tony

Anonymous

Age 29

There are no supplements you can take to prevent HD, but there is a growing amount of research and information about how leading a positive lifestyle (heathly eating, excersise, keeping your brain active) protects the brain. There is no definate human answers but studies in Huntingtons Disease mice models have delayed symptoms of HD and slowed progression.

Its nothing concrete yet but with no treatment or cure, keeping fit and mentally active is the best thing you can do right now!

Tony

Hi Jenny,

For the predictive test, this will depend on the genetic service that is doing your test, but it is usually approximately 4 – 6 weeks. This also allows time for the all the pre-result counselling and assessments to be done. Occasionally if the testing team is concerned about the person’s psychological state they may postpone the results until this has improved with treatment and further counselling. Most genetic services try to be flexible and not hold up the process unnecessarily. In most states it is a similar time frame for a diagnostic test, that is, if the person being tested already has symptoms and the test will determine whether HD is the cause of those symptoms.

Fiona

Angela 

Aged 21

Hi Angela,

This is a good question. When you apply for a life insurance, disability or income protection insurance policy you have to answer all the questions honestly. This will include questions about your family history of Huntington’s disease (or another genetic condition) and whether you have had a genetic test. If you have already had the test and it showed you do have the genetic fault that causes HD, you have to declare this when you apply. For most insurance companies this will mean that you won’t be offered an insurance policy. For an exception to this see the section on ‘Insurance’ in the 18+ section of this website. If you apply before you have the test you still have to declare your family history but you won’t be automatically denied a policy when you are at 50% or less risk. However you may have to pay higher premiums (monthly payments) because of your risk. For a more detailed explanation please check out the ‘Insurance’ section (to the left when you click on 18+) on this website.

Fiona

From Alex - Aged 20

Hi Alex,

It can be very difficult to live with someone who has the emotional changes that HD can cause. It is a good idea to find a psychologist for support with these issues. As you may already know there is a scheme you can access through your GP called a Mental Health Care Plan. The GP can refer you to a psychologist who is registered with this plan for Medicare and you can claim a rebate from Medicare for part of the cost of the sessions (up to 6 sessions initially or up to 12 if needed).

In the eastern suburbs of Sydney there is a psychologist, Sue Hawkins, who has the Medicare registration and also has experience with HD and genetic issues. You can find her contact details on www.suehawkins.com

Please contact us again if you have any further questions.

Fiona

Name: sally capel
Question: i have a low cag count of 38. But i already have HD. I thought i would have late onset HD because i have a low cag count. what has happened ?

For all people at risk of HD, the size of the CAG repeat is a major factor in determining the age at which symptoms appear. That is, the lower the CAG number the later the average age of onset. Conversely, the higher the CAG number the lower the average age of onset.

The key word here is average. To put it another way, if 100 people have a CAG number say of 38 then most will have an age of onset in their older years, but some people will still get HD at a younger age including a few in their 30's and 40's.  For this reason, doctors and genetic counsellors can never tell you as an individual when the HD will appear.

The main significance of having a positive result is that one day you might get HD rather than telling you the age of onset. People with a CAG number of 36 to 39 have a less than 100% chance of getting HD and the average age of onset is higher than for people with 40 or more CAG repeats. If the CAG number is 40 or more then the life long chance of getting HD is effectively 100%, but again the age of onset will vary widely from early adulthood to old age.

The CAG number does not influence the initial symptoms of HD, as far as we know. That is, one person with  a particular CAG number might first get chorea whereas another person with the same CAG number might develop anxiety & depression.

We don't know why there is so much variation in the age of onset or the initial symptoms. Probably there are other genes, most of which have not been found, that might have an influence on age of onset. Lifestyle might also be important. There is quite a lot of evidence that physical and mental activity in general might delay onset of HD.  Physical and mental activity is also fun and is good for health in other ways like keeping your weight down & protecting you from diabetes and high blood pressure. I recommend to my gene positive patients that they exercise for about 20 or 30 minutes three times a week and keep their minds active.

Andrew

Name: Kirsten
Age: 15
Question: my dad has huntingtons disease and my grandad did and do did his dad, does this mean it only gets passed on through the males in my family or do i still have a chance if im a girl?

Huntington's Disease is inherited in an autosomal dominant fashion. This means that each child of a person carrying the HD gene has a 1 in 2 or 50% chance of inheriting the gene. Men and women are equally likely to inherit the gene.

The fact that your dad, grandfather & great grandfather all had HD is a fluke. That is, the women of the family have been lucky. You are at a 1 in 2 risk of inheriting the gene from your dad. So are your brothers & sisters. If  you or one of  your brothers & sisters has the gene all the otters are still at a 1 in 2 risk of inheriting the gene also. That is, the 1 in 2 risk applies to each child regardless of the gene status of other family members.

The only way to be certain of your gene status and hence whether or not you might one day get HD is to have the gene test. As someone with first degree relatives with HD you are at a 1 in 2 or 50% statistical risk of inheriting the gene. Most people who are gene positive develop symptoms by their early 50's, but some get symptoms in their older years. We don't really understand why there is so much variation in the age of onset

Andrew

Susie Aged 65

Typically people with the Huntington's Disease (HD) gene get symptoms from late 30s to mid-50s, although any age of onset is possible from childhood to old age. The size of the CAG repeat count does not reliably predict the age of onset in most cases.

Name: Danielle
Age: 52
Question: If not any of the parents children test positive for the hd gene - does that mean hd does in fact...skip a generations

Could you please clarify the question? Who in the family (e.g. grandparent, uncle, aunt, parent, etc) is gene positive for HD?

Name: Jacob
Age: 16
Question: Do fraternal/identical twins still have a 50/50 chance of testing positive for HD - or is it a case of if one has it, the other definitely will too? 

If twins are TRULY identical, then if one is gene positive the other will have the gene also.

If twins are non-identical, then each twin is at an independent 50/50 risk of inheriting the gene. That is, one could have a different gene test result than the other. For example, one might be gene positive & the other gene negative. It might also be the case that both might be gene positive but have different sized CAG repeat expansions. Both might of course be gene negative.

In terms of predictive testing, if one member of an identical twin pair tested positive for HD then I would recommend that the other considered getting counselling to help them work out what the result might mean to him or her.

There has been one case, of Australian identical twins, who presented differently. That is, identical twins cannot assume that HD will behave in exactly the same way in both twins.  Also, the psychological impact of being gene positive might be different in each twin. These subtleties are why I'd recommend that the second identical twin might see a counsellor

Andrew Churchyard

Rachel (18) has just sent in a question.

Name: Rachel
Age: 18
Question: I know that people who suffer from HD have a shorter life expectancy. I just don't know why that is ... what do they die from, exactly? How long do you have, from the onset of symptoms?

The answer to these 2 questions are  not as straight forward as they might seem.

In general people with HD become very disabled at about 10-15 years from the onset of symptoms. However, the rate of  progression is very variable and so some people become very disabled well before this & some many years later. I general, the older a person is when they get symptoms the slower the disease progression. Thus, people who first get HD symptoms in old age (say over 65) might have a normal life expectancy. However, since most people get symptoms when they are younger than this for most people life expectancy is reduced.

In my experience, the commonest causes of death are pneumonia and trauma from falling.

Pneumonia can occur when the wallowing muscles become weak & so saliva, fluids & food can trickle into the lungs and cause an infection. This is why it’s important that people with HD see a speech pathologist and when needed their diet is modified. For example, fluids can be thickened & food  cut up finely or minced. Changing the diet this way reduces the risk of chest infections & allows the person with HD to get enough nutrition.

Falls are common in HD & can be very heavy. This can result in severe injuries like a broken leg or a fractured skull.

The other major  cause of death in HD is suicide. This is a very upsetting thing for families, and for doctors & nurses. There is a lot we can do to help people who are suicidal to get rid of these awful thoughts and make them happy & safe again. Anyone who feels that they might want to harm themself or who has a relative who they think might be suicidal should go to their doctor or ring Lifeline or their local Huntington’s Association  to get help. Everyone who looks after HD families is happy to help an individual in distress.

Andrew Churchyard

Jamie (30) has just sent in a question.

Name: Jamie
Age: 30
Question: Why do I have to wait months to get a test to tell me I may have HD and with that limited time. Two months for first appointment,upto three for second and again for the third for testing?

Hi Jamie, thanks for your question. Yes I know the waiting times for testing can be frustrating, and they vary between genetic services depending on how booked up their appointments are. It is recommended as part of the international protocol for predictive testing for HD that there is some time between the first and second appointments, to allow further time for thinking about the decision, perhaps seeing a private counsellor, and in some cases, to organise things like life or income protection insurance. Having said that I think there should be some flexibility within the protocol to adapt to each person and their circumstances. At the first appointment it would be worth trying to see if you can negotiate a shorter waiting time, based on your age and preparedness for the test, and any other factors you think may be relevant. The decision to have the test carries enough stress without the added stress of imposed time frames. Hopefully the professionals you are seeing will be open to discussing these issues with you.

Fiona

Jodie (43) has just sent in a question.

Name: Jodie
Age: 43
Question: can you please tell me when the HD congress is on in Melbourne

Hi Jodie,

World Congress is on the 11th-14th September

See link for more details

http://www.worldcongress-hd2011.org/

woomill (26) has just sent in a question.

Name: woomill
Age: 26
Question: If HD runs in our family but my mother doesn't have the gene do i have a chance of being a carrier of the gene?

Hi woomill,

No if your parent is gene negative (doesnt have the gene) then you will also be gene negative (not carry the gene)

If a parent is gene positive (they carry the gene) then the child has a 50% chance of also having the gene.

HD is an autosomal dominant genetic disorder. That is, each child or sibling (brother or sister) of someone with HD has a one in two or 50:50 risk of inheriting the gene. What this means is that if someone with HD has 10 children then on average 5 will inherit the gene and 5 won’t. However, there will be some families where less than half of the children will inherit the gene and some others where  more than half  of the children will inherit the gene.

Men and women are at equal risk of inheriting the gene.

The only certain way to know of if someone has the gene is to have a gene test.

If most of those in a particular family who get HD are women then this is just bad luck for them and good luck for the men of the family. If your boyfriend’s mum had HD then he is at a one in two or 50:50 risk of inheriting the gene even though he’s a man.

Dr Andrew

Stacey (19) has just sent in a question.

Name: Stacey
Age: 19
Question: Hi. my boyfriends mum has got hd but he is adament he doesn't want to get tested but i have a baby with him..is there any way i can find out if my baby has got it or not?

Hi Stacey,

Thanks for your question. Firstly, regarding your boyfriend’s decision not to be tested, the majority of people at risk choose not to be tested, mainly because they are worried about the emotional effects if the test result predicts that they will develop HD, and there is still no treatment to prevent it. It is a very personal decision and it is good to support whatever decision an at risk person makes with regard to testing. I assume that your boyfriend is still young so hopefully with all the research (including trialling treatments) that is going on worldwide an effective treatment will eventually be found. This will change most people’s decision about not being tested, as it is a different matter if something can be done to prevent HD developing.  This will also make a difference to the situation regarding testing of children. At the moment, as there is no preventive treatment, there is a worldwide agreement not to test children at parent’s request. As most adults decide not to be tested, it is also important to preserve the child’s right to make his or her own decision about being tested, when they are old enough to comprehend the implications of this decision (usually 18 or older). In your situation another problem would be that if your child is tested and found to have the HD gene change, this would also be the result for your boyfriend, which he doesn’t want to know. This would be an extremely difficult ‘double whammy’ situation to handle, so it is best to leave things as they are, and try to live with the uncertainty, which I know is difficult. At the moment your child has a 25 % chance of having the HD gene, which also means a 75% chance of not having the HD gene. It is also difficult to believe that there will not be substantial improvements in treatment for HD, and hopefully even a prevention or cure, by the time your child reaches the age when most people develop HD (late 30s – mid 40s).

If you would like to discuss your situation with a genetic counsellor you could contact the HD Association in your state to find out the contact details for your nearest genetic counselling service.

Fiona

Jessica - 28 years old

This question raises a number of important issues .I will answer them in point form for the sake of clarity:

1)  Leg twitches & jerks when someone at risk of HD drifts in or out of sleep:        Although this could be chorea, it is much more likely to be a normal variant. People often twitch, sometimes quite violently when they drift in or out of sleep. However, to be certain of this it  would be best to be assessed   by a doctor

2) When to get genetic testing:                 The  only good time to have predictive  testing  for HD is when the at risk person is ready for it. This is a very individual thing and it also has massive implications for partners. Working out what to do & when  to do it is very stressful. In my experience  one of the times when a person at risk of HD might want testing is when they are planning  to have a family.  If you as a couple are considering PGD then you have 2 options. Firstly, your partner could have gene testing and if he is found to be gene  positive then consider  PGD. Secondly, if he doesn’t want to have gene testing, but you are not willing to have  gene positive child  then you can still use PGD. These  are obviously very difficult & complex issues. One option might be for you and your partner to see us at the Predictive Gene testing clinic, not for gene testing, but to have a talk about the issues which you face & to get the information which need. We often have people in your situation ringing to get advice or coming to see us for advice, but without any requirement to have gene testing.

All the best for the future

Deb (29)

Hi Debbie

Thanks for your question! Having a parent with HD doesn't qualify you as having a pre existing medical condition but life insurance companies will also ask questions about family medical history which require's you to state information about HD and then they use it as a reason not to insure. This is why pre-symptomatic people have had so much trouble. The reason we are excited about the Virgin quick and easy option as is that it appears to be the first product that does NOT ask you any questions about anything related to HD or your family, so you can get life insurance. Regarding your question about the definition of accident, I can see why you are concerned, but your question is really technical and either the insurance companies themselves or perhaps your own legal advice would be the best place for more info?

Cheers, Tony and the HD Space team

Bron age 35

Bron is at a 1 in 2 risk of inheriting the HD gene from her mum. Your mum’s CAG repeat number is in the grey zone. If you inherit the HD gene then you are also likely to have 39 CAG repeats.

Whether you want to be tested for the HD depends on you & your needs. Everyone is different.

It’s important to remember that if you have inherited the gene then you could still get  symptoms of HD. People with a CAG repeat in the grey zone have a less than 100% chance of having symptoms & often they get HD well into adulthood.

Hi Meaghan,

I'm sorry to hear about your friend - is she a similar age to you? If so that is very
young to have HD. I think the best things you can do are to learn as much as you can
about HD (from the internet/websites like this one, and from your local HD Association)
and to listen to any problems or concerns your friend may want to talk about. You can
encourage her to get medical help (if she doesn't have this already) - again your local
HD Association will give you the contact details for the nearest HD specialist and
team. You can also help her in practical ways if she needs it, like helping with her
shopping, reminding her about paying her bills etc. Just being a friend, going out for
coffee and spending time with her is also very important. The HD Association can send
you a booklet about the ways HD can affect a person's thinking and behaviour, so you
know why she may be behaving in certain ways due to the illness. For example, people
with HD often have trouble remembering day to day things like appointments and paying
bills, and have trouble planning things they need to do, and carrying out a plan. So
they often need reminding of things (in a nice way of course!).

I hope this information is helpful but if you have any other questions please ask!

Fiona 

Name: kathy
Age: 35
Question: My father has been diagnosed with HD. He is 63 and is quite often mentally and occasionally physically abusive towards my mother who is his carer. She is at the end of her tether and we were trying to give her some respite by having him stay with my sister but he managed to get home and will not stay with her. We have run out of solutions. What can we do that will be best for my father and mother.

Name: Steph
Age: 19
Question: Is shaking in the hands a symptom? What if it is shown as early as my age?

Shaking in the hands is not usually seen in Huntington's Disease, but is seen in many
other conditions. Some of these are very common. If you are concerned then you should
see your family doctor (general practitioner)for a check up and advice. Also,
Huntington's Disease is very rare at 19 which makes another cause of the tremor unlikely 

Andrew Churchyard

Hi Regan, I'm sorry this answer has taken a long time but I have been away. I think you
could start by telling your friends that your Dad is not well, and that he has an
illness that affects his brain, which causes parts of his body and his mind not to work
properly. You would need to say that there is no cure for the illness and that it gets
worse slowly, but that some of the symptoms can be treated with medications to keep him
as good as possible. You can say that he will need a lot of looking after, from both
the family and from special carers that can come and help him at home. If you feel
confident you can tell them it is a genetic illness, caused by a mistake in one gene,
which he would have got from one of his parents.

Two other things you can do are to give your friends the website address for OurHDSpace
and then they can look up the information they want to on that. Also you can contact
the HD Association in the state where you live (the phone numbers are on the website)
and ask them to send you some written information (in NSW there is a booklet called
'Fact Sheet for Teenagers' which explains HD in plain English and not too many words),
which you can give to friends to read.

I hope this information is helpful. If not let us know and we will try to help further.
Fiona

Also Regan check out the facebook page on the home page of Our HD Space and www.hdaustralia.org to connect with other younger people!

Michelle

Sarah (25) has just sent in a question.

Name: Sarah

Age: 25

Question: Hi! I am thinking about getting geneticly tested (my mum has huntingtons disease). I don't know if I should tell my mum though. She is currently displaying symptoms of the disease and when I hypothetically asked her what she would think if I decided to get tested, becuase I'm getting to the age of thinking about starting a family, she said I was too young and started saying ridiculous statements that didn't make any sense- about how I could just genetically test my child and not me. She did say she would want to know I was doing the test though. I don't know what I should do, to tell my mum I'm going to do the test or not. I'm worried she will break down if it's positive and I'm not sure if she can take it emotionally, because I'm not sure if her thinking is 100%, but is it morally wrong if I don't tel her and I have to live with the guilt of decieving her. This is hard because I've grown up with HD my whole life but it is never talked about, it's almost something that has become shameful, which is sad. I'm worried how my result will impact my immediate family, especially my mum. Sorry this is so long! Thank you.

 Hi Sarah, this is a difficult issue that a lot of people at risk struggle with when
they are thinking of having the predictive test, whether to tell their parent who has
HD. It is understandable to not want to add stress and worry to a parent, either while
waiting for the result or, as you say, if it is positive. It is not morally wrong to
not tell your parent, because who you tell is completely your decision, and you are
only trying to protect her. On the other hand being open about it can allow you to
receive support, and parents (even with HD) are often stronger than you think. The fact
that your Mum has said she would want to know perhaps indicates that she would be OK.
Regardless of whether you decide to tell her, it is recommended to tell someone in the
family, or a friend, so you have support during the testing. It is not a good idea to
do the test without telling anyone. Regarding telling a parent with HD. obviously there
are pros and cons whichever way, and it would be good to see a genetic counsellor or
social worker in your area who specialises in HD/predictive testing, for a discussion
and counselling on this and other issues, before going ahead with the test.

By the way your Mum was sort of correct when she said you can get your (unborn) child
tested without being tested yourself. There is a technique, called PGD exclusion
testing, which can be done using IVF and preimplantation genetic diagnosis (PGD) in
which the embryos are created, then tested NOT for the HD gene, but for the chromosome
4 markers that can distinguish which side of the family (on your side) the chromosome 4
has come from. It would require a blood sample from (ideally) both of your parents, as
well as you and your partner. Any embryos that have a chromosome 4 from your Mum's side
of the family would be excluded ie not used to start a pregnancy, as there is a 50%
chance that that chromosome has the HD gene. So that way you can be confident that the
child will not have the HD gene, while not having to find out whether you have the HD
gene. You can get more information about the PGD process from the website of Sydney IVF
- www.sydneyivf.com

I hope this information is helpful and I would encourage you to contact your local
genetic counselling service for help to sort out your dilemma.

Regards,

Fiona

Also sarah you may find it useful to talk to other young people on www.hdaustralia.org

emily (11) has just sent in a question.

Name: emily
Age: 11
Question: how can i tell if someones account is real e.g someone claims they are greyson chance- how do i know this is true??

From Tam Aged 24

This is a very difficult issue for people living with the risk of Huntington’s disease (HD). In my experience most people at risk of HD worry about whether or not they have symptoms. On occasions they can get very stressed about concerns that they might have symptoms.

The commonest cause of forgetfulness is not dementia or HD, but anxiety & stress. Sleep deprivation is also a common cause of forgetfulness. The forgetfulness in both cases is due to poor concentration and attention which results in difficulty in focussing. Living with HD is stressful and that stress might be enough to make you forgetful.

Clumsiness is common (the doctor writing to you has it in spades and he doesn’t come from a HD family). If you don’t have definite chorea (twitching involuntary movements) then the risk of clumsiness being due to HD is low.

Tam, I gather that you are 24 years old. HD can occur at any age, but most people don’t get symptoms until they are in their late 30’s or older. That is, the chance s of you having symptoms of HD aren’t zero, but they’re very low. If you’re really worried then you should see your GP to talk about what to do. Sometimes the best way to handle worries like this is to get a check up & have the chance to get expert advice.

Dr Andrew

Asked by Jill who is 16 years old.

If the CAG repeat number is 40 or more, then one day the person will get symptomatic Huntington’s disease (HD). The typical age of onset is from late thirties to mid-fifties. In general, the higher the CAG repeat number the earlier the age of onset.

If the CAG repeat number is between 36 and 39, then there is  a less than 100% chance that the person will  develop HD and the age of onset of symptoms is often in the sixties or seventies or even older.

It’s important to remember that the exact repeat number doesn’t reliably predict either the age of onset or the symptoms a person might get.  That is, no doctor or genetic counsellor will be able to tell a gene positive person when she or he will get symptoms.

It’s difficult to say what is and what is not a high CAG repeat number given that it  doesn’t reliably  predict when HD will appear or how it will behave. I guess most doctors would say that if the CAG number was above 50 then that was high. However, if someone does have a CAG repeat number like that then it doesn’t mean that  they will inevitably get HD early.

Dr Andrew

Question From Joy ( Aged 61)

Dear Joy, it is extremely sad that your granddaughter has been diagnosed so young, and she will certainly need a lot of help. I suggest that you start with whoever made the diagnosis – was it a paediatric neurologist, and was it in a children’s hospital? If so you can ask if there is a social worker you could speak with, who could help you make a plan for your daughter’s care. You could also contact the HD Association in your state and ask what services are available for you and your family. A children’s hospital or HD service should be able to connect you with a team of professionals who can help at various stages, such as a speech pathologist, dietitian, physiotherapist and occupational therapist. Your granddaughter’s neurologist should also be able to prescribe various medications that can help with some of the symptoms. You can also use the HD Australia forum – www.hdaustralia.org - to learn from other families who have dealt with juvenile HD. There is also a website based in England that might provide some good information and support –www.jhdfamilies.co.uk – as you will certainly need support for yourself as a carer. But the most important thing is to find local professionals who have some knowledge of HD and juvenile HD who can get to know your family and support you along the way with whatever you may need. Please let us know if you have any problems finding this support.’

Evy (Aged 25)

If you are gene negative then you cannot get Huntington’s disease and you can’t pass it onto your children. That is, if a person is gene negative then all their descendents are safe.

Each person has one in two (50%) risk of inheriting the gene from a gene +ve  person. That is, you have a  50% risk of inheriting the gene,  regardless of the fact that your brother has HD

Dr Andrew

Jenny (19) has just sent in a question.

Name: Jenny
Age: 19
Question: Is there anyway of knowing if someone is faking having HD?

This is a very, very difficult question to answer. There are a number of reasons why this is so.

Firstly, the major symptoms of HD (chorea, anxiety/depression & memory problems) are non-specific and occur in lots of other conditions and also in people who do not have a neurological disease. In particular, anxiety & depression are very common throughout the community. It is thought that up to 30% of adults at any one time have significant anxiety or depression. It can also be very difficult to pick early HD from alcohol abuse or heavy marijuana use.

Secondly, there is no scientific consensus as to how to diagnose early HD and it is now realised that emotional or cognitive symptoms can  precede the onset of chorea by years.

I have never met anyone who I have felt is faking HD. However, I have seen people who have genuinely believed  they have had HD when they haven’t. Most times this occurs because they are anxious or depressed for another reason and have then assumed that they must have HD.

Much more commonly, we see people with definite symptoms of HD who are in a state of denial. This can be very difficult for families & carers, but generally it is still possible to help the patient and his or family.

If there is a possibility that someone might have HD then it is probably  best that they see an expert on the disease.

It is also very, very important to recognise that being gene positive for HD  is not the same as having HD. People are born with the gene, but rarely get symptoms until well into adult hood. Why it takes decades for the gene to cause brain damage & then symptoms  is unknown. However it may be that regular physical exertion and mental activity delays the onset of symptoms. That is, being a couch potato is not a good lifestyle for those at risk of HD. Regular exercise is also fun and has lots of other health benefits.

Dr Andrew

jess (15) has just sent in a question.

Name: jess
Age: 15
Question: is it badif you think you are suffering depression and you know it about some one with hd that is close to you

Asked by jill (16)

Jill,

To my knowledge there are no mineral deficiencies in HD. Could you send me more information?

Andrew Churchyard

Jill,

Just wondering if what you were reading may have been in regards to vitamins/suppliments?

Cheers

Michelle

http://www.facebook.com/#!/pages/Huntingtons-Disease-Youth-Association/148438107354

Please ask another question if you need more help

Asked by Jessica (18)

Jessica there are Genetic Counsellors who you can contact in regards to testing. Here are a few contacts below. They will be able to steer you in the right direction, depending on where you live.

Asked by Meg (15)

Asked by Tom, Aged 26.

I'm considering being tested for HD but need to sort out my life insurance first. Is there any insurance companies that you recomend. I have been struggling to find one that will insure me because my father past away from HD. Any help would be much appreciated.

Hi Tom

To try to obtain life insurance, disability insurance or income protection insurance when at 50% risk it is best to go through an insurance broker who can try to secure the best policy, rather than contacting separate insurance companies one after another. The broker we recommend is called Special Risk Managers - telephone 1300 665 356.

Cheers Fiona

Further to Fiona's response Tom, if you have a read of the 18+ section under Insurance there is some  info regarding Insurance companies and how we think you should respond regarding testing questions.  Also, if asked whether you are planning to be tested for HD, it is best not to answer 'yes' to this question as then the broker/company will want to postpone offering a policy until you are tested and know the result. However the reason for obtaining insurance PRIOR to being tested is that you will not be able to get this type of insurance if you test positive. It is best to answer 'not sure' or 'not at this time' or something similar.  IT IS AN UNFAIR QUESTION ANYWAY as people at risk chop and change their minds on this, so an answer one day is not necessarily valid for the next day. (The Our HD Space team)

Asked By Ross, 38

The answer to this question depends, to some degree,  on who was the gene positive parent. That is, the answer will be a little complicated.

If Ross inherits the gene (a 50% or 1 in 2 chance) then most likely he will have the same or very similar repeat count as his sister.

However, if inheritance is from the father, there  is a small chance the repeat number will increase whereas this is less likely if inheritance is from the mother.

It is also important to remember that if the repeat number is less than 40 then the average age of onset of symptoms  will be greater than if the repeat count was 40 or more. There will also be a less than 100% chance of developing symptoms of HD

-Dr Andrew

Asked by Kyle aged 15

 There is heaps you can do to try to find a cure Kyle! Doctors and Scientists need money to pay for their research. They wont find a cure without it. You can help by raising awareness of HD and even perhaps raise some money that you can give to the scientists to help find a cure. Have a read of our 'take action' part of the site for some ideas. You could hold a sausage sizzle or a casual clothes day at school for a gold coin donation. Check out this guy www.hoopathon.com in the USA. BJ started this when he was about 10 years old with his family.

Source: 'Huntington's Disease in the Family' Brochure

(Available at your State HD Association)

Asked by Kirri aged 10

When people have Huntington's disease they behave differently from other people - they may walk or talk in a different way, they may have funny jerky movements and find it difficult to sit quietly. People who don't understand that the person has an illness may laugh or tease you. You need to tell them that your nanna has an illness that affects her brain and that is why she is different, and she can't help being the way she is. 

Source: 'Huntington's Disease in the Family' Brochure

(Available at your State HD Association)

Asked by Sienna aged 9

Source: 'Huntington's Disease in the Family' Brochure

(Available at your State HD Association)

Source: 'Huntington's Disease in the Family' Brochure

(Available at your State HD Association)