Huntington’s disease is rare, and there is currently no cure. However, treatment and support can help to alleviate some of the problems caused by the condition, writes Cath Stanley.
Huntington’s disease is a rare genetic disease, affecting about one in 10,000 people in the UK (Huntington’s Disease Association (HDA), 2019a). It is autosomal dominant – meaning that if you inherit the gene, you will develop symptoms. Every child born to a parent with the faulty Huntington’s gene has a 50% chance of inheriting the disease. Symptoms usually begin between the ages of 30 and 50 and the prognosis is around 20 years of life (NHS, 2021). There is a rare form, Juvenile Huntington’s disease, whereby children and young people develop symptoms under the age of 20.
In May 2022, as part of the HDA’s awareness month, a new campaign called #HuntingtonsInMind was launched. This was designed after a mapping study that identified services available for people with the disease. One of the shocking findings of that exercise was the lack of mental health services for those affected by the disease, and the refusal in some circumstances for community mental health services to accept patients with Huntington’s disease, even when their psychiatric symptoms were the presenting symptoms.
The campaign sought to get people’s lived experience of the impact this had on them and their journey through the illness, both as someone with Huntington’s disease, and as a carer. The charity will be using both pieces of information to try and influence change and improve access to mental health services.
What you need to know
Huntington’s disease is caused by a faulty gene on chromosome 4. The gene that causes Huntington’s repeats a particular coding sequence known as CAG (cytosine-adenine-guanine) too many times. This creates a protein called huntingtin, which is essential for normal development. However, because of the abnormal expansion, a mutant form is also produced that is harmful to neurons. The damage it creates is what causes the symptoms of Huntington’s disease (HDA, 2022a).
There is a genetic test that people can have, called a predictive test, which can tell someone whether they carry the faulty gene, but it cannot tell you when you will develop symptoms. A fetus can be tested during pregnancy to see if it carries the gene. Usually this will only be carried out if the person agrees to a termination if it does. Some people choose to undertake pre-implantation genetic diagnosis, which is a form of IVF whereby only embryos that don’t carry the Huntington’s gene are implanted (HDA, 2022b).
Symptoms of Huntington’s disease vary considerably, even within members of the same family. However, changes usually affect three main areas: movement (movements may happen that are unexpected – chorea – or rigidity and dystonia in later illness); cognitive (which causes difficulties with planning and thinking and adapting to changes in routine) and behaviour (changes in behaviour and personality and mental health problems).
The symptoms of Juvenile Huntington’s disease may at first appear as stiffness and clumsiness in the arms and legs. Parents may notice a change in performance at school, behavioural changes and disturbances in speech (HDA, 2022c).
The disease is progressive for all ages, meaning that symptoms increase over time and greater care and support is needed the longer someone has it. The movement disorder is usually the most obvious symptom. The cognitive disorder is usually the symptom people find affects them most in daily life, although behavioural disorder is usually the one that gives patients and carers the most concern (HDA, 2019b).
The genetic nature of the illness offers those professionals caring for people with Huntington’s disease a unique challenge as their relatives around them may be watching a mirror image of what might happen to them if they go on to develop the illness.
Growing up in a family affected by Huntington’s disease can be particularly challenging. The mental health and cognitive aspects of the disease can make parenting very difficult. The movement disorder that affects speech and gait can often be misinterpreted as the individual being drunk – children and young people can find this situation embarrassing. That coupled with their own risk factor means some children and young people struggle to cope.
What can you do?
Many healthcare professionals will never support someone with the illness owing to the rare nature of the disease. When they do, because of the complex nature of Huntington’s disease, their lack of knowledge can make it feel overwhelming. Accessing the right help and support for families affected by Huntington’s disease is crucial. You can find lots of resources on our website, hda.org.uk, which includes information for professionals and factsheets for families.
The HDA runs a variety of training sessions and webinars for families and professionals where you can find out about the disease. The HDA also employs specialist advisers who offer advice, education and support to both families and professionals. The specialist youth workers support children and young people who are at risk of the disease, as well as those around them – in educational settings, for example, to enable them to support the child or young person better.
The charity also employs a specialist Juvenile Huntington’s disease adviser who provides care, education, advice and support for families affected by this very rare form of the illness, which includes the opportunity for families to meet at a weekend away.
There are also lots of opportunities for people affected by Huntington’s disease to gain peer support through the charity’s branch and support group network, its social media channels and message board. In addition, as community practitioners, recognising that referral to other services (such as occupational therapists, speech and language therapists, dietitians, physiotherapists) as early as possible in the illness will greatly improve the person’s quality of life.
Cath Stanley is chief executive of the Huntington’s Disease Association. She provides strategic direction for the charity, whose main area of work is providing support to the families affected and the professionals supporting them. Her background is in nursing, her area of expertise, palliative care. She also has qualifications in teaching and assessing, Huntington’s disease, cancer care and bereavement counselling in children.
- More information on the condition hda.org.uk
- Access Specialist Huntington’s Disease Advisers bit.ly/HDA_youth_engagement
- To find out more about support for Juvenile Huntington’s disease go to bit.ly/HDA_juvenile_help
- Information on Huntington’s research hdbuzz.net
Time to Reflect
What could you do as a practitioner to ensure a person affected by Huntington’s disease (and their family) get the appropriate care and support? Join the conversation using #HuntingtonsHelp via @CommPrac
Huntington’s Disease Association. (2022a) What causes Huntington’s disease. See: hda.org.uk/huntingtons-disease/what-is-huntingtons-disease/what-causes-huntingtons-disease (accessed 6 October 2022).
Huntington’s Disease Association. (2022b) Starting a family. See: hda.org.uk/getting-help/if-youre-at-risk/starting-a-family (accessed 6 October 2022).
Huntington’s Disease Association. (2022c) Symptoms of Juvenile Huntington’s disease. See: hda.org.uk/huntingtons-disease/what-is-juvenile-huntingtons-disease/symptoms-of-juvenile-huntingtons-disease (accessed 6 October 2022).
Huntington’s Disease Association. (2019a) Impact report. 2019. See: hda.org.uk/media/3014/impact-report-2019-final-3.pdf (accessed 6 October 2022).
Huntington’s Disease Association. (2019b) Huntington’s disease: behaviour and communication guide. See: www.hda.org.uk/media/2517/behaviour-and-communication-guide.pdf (accessed 6 October 2022).
NHS. (2021) Overview: Huntington’s disease. See: nhs.uk/conditions/huntingtons-disease (accessed 6 October 2022).
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