Information for families

This page is currently under development. Please bear with us while we improve the information for you. If you have someone in your family with JHD and would like to write something about your experiences for this page, then we would love to hear from you.

We would also like to hear your comments on it. Please contact Helen Santini at helen.santini@hda.org.uk. We cannot promise to publish all of the information submitted.

Frequently asked questions (FAQ)

I think my son / daughter may have Juvenile HD. What should I do?

The first thing to point out here is that JHD is a rare condition (see FAQ How many children are there in the country with JHD?). This means that it is worth looking at other possible causes of any signs/symptoms before you consider JHD. It is also worth putting up with the frustration of waiting that bit longer to find out while every other possibility is investigated. Parents are often the first to notice subtle changes in their child that may be hard for other people to see and it may be difficult to explain exactly what it is that is not quite right. However, it is important to remember that this could also mean that they are caused by something else. A good doctor should consider other possibilities before diagnosing JHD, but should not totally disregard your concerns and the possibility that it could be JHD.

Typical signs and symptoms of JHD are: decline in mental ability, changes in behaviour, clumsiness, stiffness, seizures, and swallowing or speech problems. However, you must remember that any or all of these signs and symptoms may also occur in a number of illnesses quite unrelated to HD. If you are concerned, you could ask your GP to refer you to a paediatric neurologist who can discuss this with you.

Why will they not do a genetic test for HD on my child?

A reliable genetic test for HD has been available since 1993. There are two ways that you can use this test, although in both cases you are carrying out the same procedure. First of all, you can use the test to tell whether someone without symptoms has inherited the gene and will develop HD in the future (the predictive test). People under 18 years old are not tested this way. The reason for this is that the individual (the child) has the right to make their own decision about taking the test, and to be able to make an informed decision they must be an adult. Most people agree that this is right, since there is no immediate medical benefit from knowing the result, and the decision to take the test is such a complicated one. The test is also used as part of the process in diagnosing HD (the diagnostic test), and in this case would normally be carried out as one of a number of tests. There is no minimum age to have this test. However, the child would need to be presenting with a range of neurological symptoms before this would be considered.

If a young person had only behavioural problems or very subtle signs of HD this would not normally be considered enough evidence to carry out the test. A doctor may decide to wait until he/she is more confident regarding the symptoms displayed. The reason for waiting is that the test will give the child information about whether or not they carry the gene for HD. If their signs/symptoms turn out not to be caused by HD then they and their family are left knowing that they have the gene and all the implications of knowing that they will develop HD at some time. If it is decided that it is appropriate to carry out a genetic test, the test itself is relatively easy and simple to perform.

No-one seems to know much about Juvenile Huntington’s disease. Where can I go for help?

Having JHD, or caring for someone with JHD, can be a very isolating experience and it is difficult to meet people who are going through the same thing. It is also difficult to find someone to talk to who knows about Juvenile Huntington’s disease and most of the professionals you will come across will rely on you to tell them about JHD. Probably the best source of support is the Huntington’s Disease Association. They have a team of Specialist HD Advisers, including a Specialist JHD Adviser, who can offer information, advice and support on JHD for both families and any professionals working with those families (e.g., doctors, other health care professionals, schools, social workers). They have met many families caring for someone with HD, and probably also families where a young person has JHD.

How many children are there in the country with JHD?

As an organisation, we know of about 80 young people in England and Wales with JHD (Scotland is covered by a separate organisation). There are probably quite a few more that we do not know about, or who have not yet been diagnosed. If the young person is under 18 years old, doctors are generally more cautious about making a diagnosis and will wait until they can see fairly obvious signs or symptoms of Huntington’s disease. This means that there may well be quite a few people with JHD who do not yet have a diagnosis. However, JHD is still a rare condition, and only about 5-10% of people with HD will develop symptoms before they are 20 years old.

I am having real problems coping with behavioural problems in my child. Is there anything I can do?

See our fact sheet on JHD behaviour. Top tips for families on dealing with challenging behaviour, written by families at one of our JHD family weekends, can be found at the end of this fact sheet.

How long am I likely to have left with my son / daughter?

Unfortunately, we cannot answer this question, quite simply because we do not know. No-one can ever predict how long anyone with HD is going to live and the same is true for people with JHD. Some studies suggest that people who develop HD symptoms when they are younger have a slightly shorter life expectancy from when they develop symptoms than adults with the illness. However, no-one can predict how long someone will live for after they develop symptoms of JHD and it has been known for people with JHD to live for much longer. It is also important to remember that what counts is the quality of life (both for your child and you) and, rather than focusing on how much time he/she has left, focus on what you can do to make that time the best it can be.

How can I make contact with other families in a similar situation?

A good way to make contact with other families affected by JHD is by coming to the JHD family weekend which is held every year. You can find more details about it by looking on the JHD Events page or by contacting the Specialist JHD Adviser on 01279 507656. Many families also make contact through the internet and social media, including our messageboard.

Further information

See our JHD Resources page for useful organisations and websites, and visit the HDA Shop for JHD-related books.

Juvenile Huntington’s Disease: and other trinucleotide repeat disorders Edited by Oliver W.J. Quarrell, Helen M. Brewer, Ferdinando Squitieri, Roger A. Barker, Martha A. Nance, G. Bernhard Landwehrmeyer, Oxford University Press ISBN 978-0199236121.

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