Dealing with a life-altering diagnosis of any kind is very difficult to cope with. It is important to know that you are not alone and resources are available to help your understanding and acceptance of your disease. Huntington’s Disease is an inherited disease that results in progressive decline in mental, cognitive, and physical abilities. Often, it affects patients in mid-life but symptoms can occur at any age. Support is out there for patients, suspected patients, families, and carers that are facing a diagnosis of Huntington’s Disease.

What is Huntington's Disease?

Huntington’s Disease (HD) is a genetic inherited condition that can be passed down through families. It is caused by a mutated gene called the huntingtin gene (HTT) which causes proteins in the body to be made faulty, so that they cannot carry out their function correctly. 

It is an autosomal dominant disorder, which means that in order for a child to inherit the condition, they only need one copy of the mutated gene from either parent. Therefore, if one parent has the mutated gene, there is a 50% chance it will be passed on to a child. All people with the mutated version of the gene will develop HD at some point in their lives. 

Although the mutation is always there in a person's genetic makeup, the symptoms often appear later in life, as neuronal degeneration starts to build up. There is a gradual breakdown in the brain cells that progressively worsens to cell death. This typically affects the cerebral cortex and striatum, which are regions of the brain.¹ These regions are responsible for processes involved in memory, learning, emotional responses, and physical movement. 

Symptoms 

The symptoms likely present as mild to begin with and progressively worsen over a period of around 20 years, after which the disease is fatal. 

Physical Symptoms 

• Clumsiness and balance issues 
• Involuntary movement - jerks, fidgets, writhing 
• Trouble with speech 
• Rigid muscles 

Cognitive and Mental Symptoms 

• Forgetfulness 
• Trouble processing/understanding/learning
• Mood swings
• Changes in personality - irritability, depression, outbursts 

A recent study has estimated that the prevalence of HD in Europe to be around 4.88 per 100,000.² Although HD is rare, the resources need to be available for sufferers to aid them in their diagnosis, treatment, and understanding of the disease. 

Processing the Diagnosis 

The initial reaction from receiving a diagnosis of HD will vary from person to person, with many experiencing feelings of shock or numbness. These feelings may remain for a long-time, making it feel like you are not coming to terms with the illness. Rest-assured this is normal, and you can begin to cope with the diagnosis at your own pace.

Going forward many people find themselves going through a rollercoaster of emotions of anger, sadness, grief, and fear. These are normal feelings, especially at the first period of your healthcare journey. Many describe the first few months the hardest, as overwhelming feelings about the future can be daunting.  

A good step forward in these times is to seek support and guidance. This may come in many different forms for different people. Whether it be by searching the internet for as much information as possible, dealing with symptoms right away or by simply confiding in a close friend or family member. They can all make a difference in alleviating stress and anxiety. 

Seeking support

Specialised healthcare group 

When you are ready, you should get in touch with a specialised healthcare team that is experienced in dealing with Huntington's disease. Experts can assess each individual patient to create a carefully designed care plan, implement training, and awareness to loved ones while looking after your individual needs. They can also liaison with other healthcare areas, enabling you to work with physical therapists, dieticians, and psychiatrists. There are a number of HD specialists spread across the UK, with Scottish Huntington’s Association providing a resource to find a local team near you. 

Friends and family 

Although those around you may not understand what you are going through, they are the people that know you best and want to help the most. Isolation can have a negative impact on your mental health, while open and honest conversation with loved ones can help you process your emotions and feelings. It may be especially difficult to do this with a partner or child, as you may feel you are causing them distress and worries about the future. But by talking with them, you are helping them process their emotions too, and creates comfort in the fact that neither of you are alone.

Support groups 

Support groups can come in many different forms. Some social groups can involve meetings with patients of HD or other neurological disorders. This may be helpful to have questions answered or relate to others going through a similar situation to yourself. These groups can help feelings of loneliness and uncertainty by being part of a community and keeping social. Other supports involve helplines, counseling, and various online resources, some catering to specific issues such as dealing with relationships, tips of telling loved ones, bereavement, etc. 

More practical based groups exist too, where experts can help answer questions you may have on your illness, as medical jargon can be confusing for diagnosis and prognosis. Additionally, they can help with legal advice, filling out forms, or helping you acquire appropriate care.

Remember, asking for help is a part of human nature and not a sign of weakness. We all need support from time to time.

Helpful Links  

Local Support Groups 

• Huntington’s Disease Association 
• Scottish Huntington’s Association 

Practical Advice and Support 

• The Brain Charity 
• Athena Healthcare Group

Huntington’s Disease Information 

• Brain Research UK 
• Huntington’s Disease Society of America 

Developing a care plan 

By developing a care plan it allows you to prepare for the future and allow your wishes to be expressed. It is important to discuss your options with a physician or doctor, as there are many decisions to be made in advance of your treatment. 

This involves 

• Treatment options 
• Financial options 
• End of life options

Treatment options 

Any treatment involved will help manage symptoms and improve quality of life. This is depending on the symptoms a patient is suffering with, either pain, physical, or psychological symptoms.

Pharmacological Treatments 

It is important to note there are many different pharmacological treatments used, which will be tailored to your individual needs. This is a small example of some that may be prescribed by a doctor.

Non-pharmacological treatments 

Alongside drug intervention other non-pharmacological intervention are used too, including;

• Physiotherapy - stretches, movements and exercises to benefit in pain and strengthening of muscles  
• Occupational therapy - advice and training on how to use adaptive equipment and assessment of equipment needed and ability 
• Psychiatric therapy - groups or individual meetings to talk through emotions and mental wellbeing 

Legal and Financial Planning

In order to alleviate stress for yourself and your family about your future, it is best to get your affairs in order. There are multiple aspects that need to be considered, including decisions about your care when you're no longer able. This is why it is important to set out your wishes in advance. Some of these include:

• Wills - legally binding evidence of your wishes, involves decisions about your money, possessions, property, as well as guardianship of children and pets 
• Granting power of attorney - choosing someone in advance to make medical, legal, and financial decision on your behalf when you are no longer able 
• Advance decision/living will (ADRT) - making a decision in advance to refuse certain treatments, can include a do not resuscitate (DNR) order 

Several resources are available on legal and financial planning for terminal illness;

• Legal & General 
• MacMillan Cancer Support
• Marie Curie  
• Compassion in Dying 

End-of life care 

In order to meet your wishes, it is advised to think about what type of end-of-life care you want for yourself. Many options are available, such as care homes, hospices, hospitals, or even at-home. This is dependent on your medical needs and personal preferences. The goal is to keep patients as comfortable as possible in treating pain and other symptoms. Speaking to your GP and other healthcare professionals can help set up palliative care for yourself or a loved one. In the UK, end of life care is provided by the NHS, although private or charitable options are available. 

Summary 

Dealing with a diagnosis of a terminal illness is an emotional and stressful task, but knowing you're not alone and having resources available to you can help relieve some stress. Forward planning to have your affairs in order helps your family and loved ones be less scared of the future, and knowing what to expect removes feelings of uncertainty for yourself. Make use of support and helplines available to help deal with the shock of diagnosis and the medical journey yet to come.