Young-onset Parkinson’s disease: a guide to care and support 29 JULY, 2003 VOL: 99, ISSUE: 30, PAGE NO: 28 Bridget McCall, BA, is information manager, Parkinson’s Disease Society of the United Kingdom, London Parkinson’s disease is a chronic, progressive neuro-logical disorder affecting movement, speech, body language, handwriting and swallowing. Approximately 120,000 people in the UK have Parkinson’s disease and around 10,000 people will be diagnosed each year. Although the majority of those diagnosed will be aged over 60 years, one in seven will be under 50 years and one in 20 will be less than 40 years. The term ‘young-onset Parkinson’s disease’ is used to describe the development of Parkinson’s disease symptoms in individuals between the ages of 21 and 40 years. The lack of awareness that younger people can also develop Parkinson’s disease has sometimes meant that they can experience difficulties obtaining an accurate diagnosis or finding appropriate information and support. Feelings of isolation are also common, particularly if they do not know any other young people who have Parkinson’s disease. Cause Parkinson’s disease results from the loss of dopamine, a neurotransmitter produced in the substantia nigra, which is located in the part of the brain that controls movement. Dopamine works in balance with another neurotransmitter, acetylcholine, transmitting messages between nerve cells and muscles to enable the body to perform coordinated movements. In people with Parkinson’s disease this balance is upset because of the dopamine shortage. When 60-80 per cent of the dopamine cells have been lost, Parkinson’s disease symptoms appear. Why this happens is unknown. Current research is focusing on a number of possible causal factors including genetics, environmental factors and viruses (Clarke, 2001). In recent years, studies have suggested that there might be a genetic link for young-onset Parkinson’s disease involving mutations in a protein known as parkin (Hedrich, 2002). Symptoms Parkinson’s disease symptoms usually begin slowly and then develop gradually and in no particular order (Box 1). Each person will experience the condition differently in terms of the nature and severity of symptoms, rate of progression and response to treatment. Most doctors believe that young-onset Parkinson’s disease is idiopathic Parkinson’s disease occurring at a younger age, although some think that it might be a different, related condition. Most clinical symptoms are the same at whatever age Parkinson’s disease develops, but there are some specific differences. Tremor is slightly less common in younger people, although dystonic spasms (sustained abnormal postures, such as turning in or arching of the foot and toes) are more common and may precede the appearance of other, more typical features of Parkinson’s disease, such as muscular rigidity and bradykinesia (slowness of movement). The major difference between younger and older people with Parkinson’s disease is in terms of the medical management and the psychological, social and emotional impact of having the disease. For instance, younger people often have a more sensitive response to drug treatment, especially in terms of side-effects. Furthermore, they are at a different stage in their lives – still working, paying mortgages and raising families. In addition, they have to live with the disease for many years, a factor that needs to be taken into account when choosing treatment strategies and planning for the future (Parkinson’s Disease Society, 2003). Diagnosis Parkinson’s disease is not easy to diagnose because there are no tests that can definitely prove that someone has the condition. Diagnosis is usually based on medical history and a clinical examination. Because the symptoms can have other causes, laboratory tests and scans may be performed to rule these out. Misdiagnosis can be common because the main symptoms of Parkinson’s disease are also the main symptoms of a collective group of conditions known as parkinsonism. Distinguishing between these conditions can be difficult, especially in the early stages. Parkinson’s disease is also known as idiopathic Parkinson’s disease, and is the most common form of parkinsonism. Other, less common forms include multiple system atrophy, progressive supranuclear palsy and drug-induced parkinsonism (Litvan et al, 2003). Using scans, such as positron emission tomography (PET), and single photon emission computerised tomography (SPECT) with a radiopharmaceutical-imaging agent (DaTSCAN), can help to confirm dopamine deficiency, for which the commonest explanation is Parkinson’s disease. However, these scans cannot be used to differentiate the different types of parkinsonism from each other. The multidisciplinary approach to care At present there is no cure for Parkinson’s disease, but a range of treatments is available to help control symptoms and maintain a patient’s quality of life. These include drug therapy, surgery, physiotherapy, speech and language therapy and occupational therapy. Multi-disciplinary working is very important to the management of Parkinson’s disease and to the well-being of people with the condition (Primary Care Task Force for Parkinson’s Disease Society, 1999). Drug treatment Drugs are the main treatment for Parkinson’s disease and there are several types available. It is essential that the drug treatment is reviewed regularly as the disease progresses and a person’s needs change (Parkinson’s Disease Society, 2003; Parkinson’s Disease Society Nurse Working Party, 1999). Most younger people respond well to drug treatment; however, a large proportion may develop side-effects much earlier in their treatment. Doctors often try to use levodopa-sparing strategies, such as dopamine agonists and selegiline, when treating the early stages of Parkinson’s disease in a younger person. However, these are usually not quite as beneficial as levodopa, which will be the most effective drug for many individuals. The lowest possible dose of levodopa is always prescribed in order to minimise the potential side-effects. Any decisions that are made about treatment options need to take into account the person’s level of ability and quality of life as well as his/her personal circumstances and needs. It is essential that all people with young-onset Parkinson’s disease are under the care of a neurologist or other doctor with a special interest in treating people with Parkinson’s disease. Dopamine agonists Dopamine agonists are now the first treatment of choice for many doctors, particularly for younger people, because of the side-effects produced by levodopa. Research suggests that these drugs, which directly stimulate the parts of the brain where dopamine works, may produce fewer long-term side-effects than levodopa and may also slow down the progression of Parkinson’s disease (Ahlskog, 2002). Dopamine agonists are also used with levodopa to treat more advanced Parkinson’s disease because they help to ‘smooth out’ the control of symptoms in people whose response to treatment is beginning to fluctuate. Dopamine agonists currently used include: – Apomorphine – an injectable form; – Bromocriptine; – Cabergoline; – Lisuride; – Pergolide; – Pramipexole; – Ropinirole. Selegiline and COMT inhibitors Selegiline and catechol-O-methyltransferase (COMT) inhibitors are also often combined with levodopa because they help prevent the breakdown of dopamine, which can make the levodopa dose last longer or reduce the amount needed. Selegiline does this by blocking the enzyme monoamine-oxidase-B. It is also used as monotherapy in early Parkinson’s disease and can reduce fluctuations in the effectiveness of drugs such as levodopa that can be experienced with long-term use. COMT inhibitors work in a similar way to selegiline but block a different enzyme. Entacapone is the only COMT inhibitor currently available in the UK. Another, tolcapone, was withdrawn in the UK because of concerns over liver toxicity, but some people are still prescribed it on a named-patient basis and it is available in the USA. Older drugs Anticholinergics and amantadine are older drugs that have limited use nowadays, but they may occasionally be used to treat the early stages of young-onset Parkinson’s disease. Surgery Surgery was once the main treatment for Parkinson’s disease but it was largely abandoned with the advent of levodopa. However, in the past 10-15 years, improved surgical and brain imaging techniques, together with the realisation that drug treatment is not perfect, have led to a revival of interest in surgery as a treatment for advanced Parkinson’s disease. Surgical techniques include lesioning (thalamotomy, pallidotomy and subthalamotomy), gamma knife surgery, deep brain stimulation, brain implants using foetal brain tissue and infusing chemicals in the basal ganglia. Most techniques are still experimental and are used only to treat people with advanced Parkinson’s disease whose symptoms are poorly controlled with drugs (McCall and Scott, 2003). Research As well as the ongoing development of new drugs for Parkinson’s, gene therapy and stem cells are receiving much research interest. Gene therapy works by introducing normal genes into people with certain disorders to overcome the effects of defective genes. It can also be used to treat disorders when the genetic cause is not known, or when the disorder may not be caused exclusively by genetic defects, such as Parkinson’s disease. Stem cell research uses the inner cell mass from an embryo, implanting it in the brain to replace those dopamine-producing cells that have died, thereby reversing the progression of Parkinson’s disease. Although research into both these techniques is potentially promising, it is still at a very early stage and it will be many years before scientists will know if these are viable treatments for Parkinson’s disease. Multidisciplinary care A recent international survey of Parkinson’s disease identified several factors other than medication and severity of the condition that influenced quality of life for people with the condition (Global Parkinson’s Disease Survey Steering Committee, 2002). These included: – Depression; – Pain; – The importance of attitude and outlook on life; – The level of satisfaction with explanations of Parkinson’s disease given at the time of diagnosis. These findings highlight the importance of a multi-disciplinary approach to managing the care of people with Parkinson’s disease and their families. Sometimes management focuses so much on the medical aspects that other issues and the important role of other professionals in managing these problems are often neglected. Physiotherapists, speech and language therapists, occupational therapists, dietitians, podiatrists, social workers, psychologists and voluntary organisations, such as the Parkinson’s Disease Society (PDS) which can provide appropriate information and self-help (Box 2), all have an important role to play in helping to maintain function and promote quality of life. Some complementary therapies, such as yoga, reflexology and aromatherapy, can be beneficial in helping people reduce anxiety and stress, which often worsen the symptoms of Parkinson’s disease. Psychological, emotional and social impact The impact of having young-onset Parkinson’s disease is often most profound in terms of the psychological, emotional and social effects on a person’s life. Diagnosis comes at a time when many young people are still leading very active lives, perhaps developing a chosen career, having financial commitments, caring for older relatives and raising a family. The reaction to diagnosis can be varied and people often experience a wide range of emotions. Depression is very common in Parkinson’s disease, particularly when it is first diagnosed. Depression in Parkinson’s disease is complicated because it is thought to be partly caused by biological changes in the brain as well as being a reaction to living with the disease itself. Relationships The loss of communication skills can have a marked effect on all aspects of a person’s life and, in particular, their relationships with other people. Difficulties with communication, loss of self-esteem and feelings of embarrassment can make people withdraw from social life, which can affect the social lives of their family. Changes in relationship dynamics and role reversals can also be common, and this can lead to difficulties. Fatigue, anxiety and stress, common features of Parkinson’s disease as well as being common in carers, can also be contributing factors. Sexual relationships can be affected by physical problems caused by symptoms (erectile dysfunction) and by drug side-effects (increased libido). However, many sexual problems can have a psychological basis, caused by loss of self-esteem, altered body image, stress and communication problems (Brown et al, 1990). Research has also shown that problems with facial expression and body language can negatively affect the impression formed by health professionals of people with Parkinson’s disease (Pentland et al, 1987). Employment and finances Employment and finances are major concerns for younger people, especially if they have mortgages to pay or families to support. Being able to keep working not only brings financial benefits but also personal fulfilment and social interaction. Although much depends on the type of work a person does and how Parkinson’s disease affects them, in many situations it should be possible to carry on working for many years after diagnosis with the right support. Financial advice, including information on the benefits that are available, and planning for the future are also extremely important in order to avoid someone experiencing financial hardship as a result of having Parkinson’s disease. The PDS Welfare and Employment Rights Department can advise further on these key issues. They also run employment days for people of working age and the PDS is funding research into the key factors that enable people with Parkinson’s disease to remain in or re-enter employment. Effects on partners and relatives Parkinson’s disease does not just affect the individual. Carers (partners, relatives and friends) live with Parkinson’s disease, too, and the impact on their lives can be considerable. They often feel quite vulnerable and need information and support to help them cope. Of particular concern to younger people with Parkinson’s disease is the effect that having a parent with the disease may have on their children. Some children may be actively involved in providing practical and emotional care. The needs of young carers can be neglected, although some carer organisations have developed projects and publications to help them. The PDS funds research into the needs of children who have a parent with Parkinson’s disease and has produced several publications aimed at young carers. Nursing considerations There is no optimum drug therapy for Parkinson’s disease; treatment has to be tailored to suit individual needs in terms of the type of drug prescribed, the dose and the times of the day it is taken. The importance of drug timing is not always recognised by nurses when a person with Parkinson’s disease is admitted to hospital or for respite care. As a result, drugs are sometimes given only at routine drug rounds. Not getting drugs at the right time of day can cause major disruption to symptom control and, consequently, can make nursing care more difficult. Lack of awareness of side-effects such as the on-off syndrome can also cause misunderstandings, with people labelled as being difficult because they were seen doing something unaided when they were ‘on’, and, later, they were unable to do the same task because they were ‘off’ (McCall and Scott, 2003). Sometimes, having young-onset Parkinson’s disease can be a barrier to finding the right support because services are often geared to older people. A typical example is a younger person who needs residential care and the only place available is in a home for elderly people. Accessing services can also be difficult, especially if it is not known what is available. All nurses play an important role in supporting younger people with Parkinson’s disease and their families and helping them access the right services. Parkinson’s disease nurses The PDS has been a major supporter of the development of Parkinson’s disease nurse specialists who work either in hospital clinics alongside Parkinson’s disease specialists or in the community. These nurses have a key role to play in providing information and advice, helping people manage their drug regimes and promoting multidisciplinary management by being a link and a support to other professionals who can help. For further information, see the Parkinson’s Disease Nurse Specialists Association website (www.pdnsa.org). Conclusion The management of young-onset Parkinson’s disease is complicated. It is essential that young people and their families receive appropriate support to meet their psychological, emotional and social needs. A multidisciplinary approach is vital, and the nurse should act as a link and a support to other professionals, such as physiotherapists, speech and language therapists, occupational therapists, dietitians, podiatrists, social workers and psychologists.
Author - gaynor
On the day Tom Isaacs’ personal battle with Young Onset Parkinson’s came to an end in summer 2017, more than a dozen young Parkies with their own battles to be fought met in the offices of PUK. Some were supporters of the main Parkinson’s charity in this country, founded the year after Tom’s birth. Others represented their own charities and organisations. Together we were the members of the Younger Parkinson’s Alliance.
Tom Isaacs, 2 April 1968 – 31 May 2017. Co-founder and president of The Cure Parkinson’s Trust A little over three months since the PD community was shaken to its core at the news of Tom Isaacs’ death, we take a moment to reflect not just on his life but his legacy. An Olympic torchbearer, Tom led and lit the way for those with YOPD; it’s up to us – all in the PD world – to now work together in getting better treatment and the cure.
*OK, so there will be a bit of a wait but, all going to plan, this will happen not just in your lifetime but in the near future. But don’t take our word for it. Here’s the view of a former neuroscientists… Jon Stamford has been studying PD for 37 years with an inside and outside perspective.
Ordinarily we’re all in favour of Young Parkies running their own home experiments to observe the effects on their PD and its symptoms. Here Simon Templar, not necessarily our writer’s real name, takes far too much of a gamble, even in his own view. Having lived to tell the tale, he recounts it here. It is published with a BOLD caveat…
Anyone who works in the medical field; specifically in the brain-business, will know of Neuroscientist Dr. Babak Kateb, Founding Chairman and CEO of the prestigious SBMT and Brain Mapping Foundation. Pat O’Brien of the acclaimed Business Rockstars introduced Dr. Babak…‘brain-mapping is what he does.’ Close enough, Lisa Vandeberg explains…