Summary of ‘An Assessment of Unmet Need and Disability Associated with the Muscular Dystrophies’

1. Summary

This project sought to establish a measure of the current provision for people in Scotland developing a progressive neuromuscular disorder (NMD) and the extent to which particular models of service provision are associated with different outcomes in terms of quality of life and economic activity of affected individuals. Data were collected in two phases, 1) a postal survey involving adults with any progressive neuromuscular disorder (n=248) and a relative or carer (RorC), and 2) one to one interviews with adults with a muscular dystrophy (n=48) and their RorC. For many people with a NMD diagnosis was a process spanning several years, rather than a discrete event. More than a third of participants reported that their condition had not been very clearly explained. Participants in remote areas reported that access to consultants and multidisciplinary teams was problematic. Four out of ten AwNMD of working age were in employment. Two-thirds reported that their symptoms made work difficult for them. Three out of ten carers had taken a decision to change their job or reduce hours in order to provide care. One third lived in households in which there was no income from employment.

Background: In Scotland more than 1500 individuals are affected by an inherited disorder of muscle, the vast majority of which are characterised by progressing muscle weakness. The establishment of the Muscle Network in Glasgow in 1999 created a unique opportunity to develop services appropriate for this group of disorders. The findings of this study provide the Muscle Network with information which will be valuable in planning further support and care for affected individuals and their families.

2. Original aims

To establish a measure of the current provision for people in Scotland developing a progressive neuromuscular disorder and the extent to which particular models of service provision are associated with different outcomes in terms of quality of life and economic activity of affected individuals.

3. Methodology

Data were collected in two phases, 1) a postal survey involving adults with any progressive neuromuscular disorder and a relative or carer where applicable, and 2) one to one interviews with adults with a muscular dystrophy and their relatives or carers. Ethical approval for the research was granted by the MREC for Scotland, the Southern General Hospital NHS Trust, and Yorkhill NHS Trust.

Phase 1: Two questionnaires were developed, one for people with a NMD, and one for relatives or carers (RorC). Questions covered demographic data, diagnosis, contact with health and social services, education and employment, financial situation, leisure activities, and general health (SF36).

Five hundred and sixty questionnaires were sent out to adults with a NMD identified through adult clinics, Family Care Officers (FCOs), and the Muscle Network database, 248 completed questionnaires were returned. A second questionnaire was included for completion by a RorC, 202 were returned.

Phase 2: Forty-eight people with muscular dystrophy (MD) and 33 RorC took part in one to one interviews. The original aim was to recruit an equal number of people with MD from the east and west of Scotland in three age groups. However, we experienced difficulty contacting a sufficient number of younger people with MD and recruiting participants in the east. Interviews, which were based on the Lifegrid method, elicited information covering each participant’s life from childhood to the present day, paying particular attention to the onset of MD and progression of disability. Analysis of the quantitative data was carried out using SPSS. Almost all interviews were recorded and fully transcribed; analysis was carried out using NVIVO.

4. Results

The research addressed six main questions:

a) What services are currently available to adults with a NMD (AwNMD) and their families?

Services for adults with a neuromuscular disorder (AwNMD) are provided by a range of health and social care professionals. The Muscular Dystrophy Campaign (MDC) provides information, and funds Family Care Officers (FCOs). Disability employment advisors can help people remain in their job or seek alternative employment.

Although the list appears to be comprehensive the proportion of participants who had had contact with health professionals and/or social services, apart from hospital consultants, was low.

b) Does service provision vary between areas where those affected have access to the Muscle Centre, and areas where more traditional provision is in place? Does service provision vary between urban and rural areas?

Unfortunately there was a marked imbalance between the number of respondents in the West (access to the Muscle Network) and East (traditional service provision) 9:1 in the postal survey, and 2:1 in the interviews. The imbalance was partly due to the establishment of the Muscle Network whose initial remit included the identification of AwNMD; thus we had access to a more comprehensive database in the West than in the East.

A higher proportion of AwNMD recruited from the East received their diagnosis from a geneticists, had a DNA based diagnosis, a progressive condition, and were defined as weak. A higher proportion of AwNMD from the East i.e. those who did not have contact with the Muscle Network in Glasgow, compared to the West had been in contact with a physiotherapist, SALT, dietician, MDC FCO, district nurse, or psychologist. We believe that these differences were due to the method of recruitment in the East, i.e. through the MDC and FCOs, which suggests that participants were in touch with health professionals and actively involved with the MDC. Participants in remote areas reported that access to consultants was problematic. Clinics held in smaller hospitals were not perceived to be an acceptable alternative because this did not include access to a full multi-disciplinary team.

c) Do social factors such as age at onset, gender or socio-economic status affect the experience of NMD and the services available?

Some young people with a NMD in this study reported that their families’ underestimated their abilities; a small number felt that they had been old enough to be told their diagnosis directly rather than through their parents. Younger AwNMD and their RorC reported that it was difficult for young people to achieve independence. Participants reported that there was deterioration in the level of support for young people as they moved on to adult services. A number of AwNMD and their families reported that they had paid for physiotherapy or their own adaptations in order to avoid delays.

Other aspects of living with a NMD that may seem more acute for younger people include problems with body image, some participants in this study reported that they felt self conscious and believed that they would not be attractive to their peers.

A number of participants had decided that having children was not an option for them. However, others sought genetic counselling and advice from health professionals. While some families felt that they had been well supported, others reported having been given inappropriate advice, being bullied, and/or feeling confused.

In this study we decided to focus on education and nature of employment as a proxy measure of socio-economic status, on the basis that suitable, sustained employment is likely to contribute to the material well being of individuals and their families. As might be expected a lower proportion of AwNMD who worked in professional/technical, or managerial occupations experienced difficulty at work and/or left a job compared to those in skilled or unskilled employment.

d) What are the views of families affected by NMD regarding the services available to them immediately following diagnosis, and as the disorder progresses?

Three-quarter of AwNMD received their diagnosis from a neurological consultant, or geneticist. Almost one third of AwNMD reported that their condition had not been clearly explained to them and that they were unsure of their diagnosis.

Most AwNMD reported being happy with the frequency of contact with their consultant, however, a small number felt that their annual visit was unnecessary. A number of AwNMD and their families reported that they were given no support following diagnosis and that services had been withdrawn. Participants appreciated follow-up appointments or home-visit from a FCO.

One third of AwNMD found their consultant knowledgeable and helpful. Dissatisfaction related to consultants who were not experts in muscular dystrophy, lack of time during consultations, and consultants who spent time talking to other doctors and students. Some participants felt that medical professionals did not listen to them. AwNMD who had spent a period of time in hospital felt that staff did not understand the additional support needs related to muscle weakness.

There was a marked disparity in the amount of information that AwNMD and their families wanted at the time of diagnosis. Participants rated hospital doctors/consultants and the MDC as the most useful sources of information. However, the proportion of participants who reported actively seeking information was low.

Amount of contact with and perceived level of support from GPs varied. A number of participants were unhappy with the role of GPs as ‘gatekeepers’ to services such as physiotherapy. Six out of ten AwNMD reported that they had received physiotherapy. Physiotherapists who specialised in physical disability were rated very highly. However, those referred to generic physiotherapy felt that the therapists did not understand their difficulties. AwNMD felt that they should receive on-going physiotherapy, or be able to self-refer rather than the standard six-week sessions. AwNMD liked having access to a multi-disciplinary team

Between one-third and half the AwNMD reported that they had been in touch with an occupational therapist, two-thirds felt that their OT had understood their condition well, particularly those who worked in physical disability or rehabilitation teams. A number of families reported that they were not given any choice about the type of equipment or adaptations they wanted.

One in five AwNMD had been in contact with a social worker. Most participants were happy with the system whereby they could contact Social Work directly if required. Few families received community care services.

One in six AwNMD had had contact with the MDC FCO. Four out of five felt that she had understood their NMD well. However, participants felt that staff in these posts could not cope with the number of people that would benefit from their service.

e) What are the views/experiences of younger people with a NMD regarding education and employment? What assistance do individuals with a NMD receive to enable them to enter/remain in employment?

Educational attainment amongst AwNMD who completed the survey ranged from no qualifications to degree level. Two-thirds of AwNMD who had symptoms during childhood attended mainstream school. There was no association between level of education and age at diagnosis.

Four out of ten AwNMD of working age were in employment compared to eight out of ten people in Scotland who do not have a health problem or disability. AwNMD, who worked across a broad spectrum of occupations, felt that academic qualifications helped them to access employment which could accommodate their condition. A number reported mixed views of the careers advice received. AwNMD found applying for jobs and managing interviews difficult.

Two-thirds of AwNMD reported that their symptoms made work difficult for them. More than half had stopped work prior to the age of 60. A quarter did not work at all following the onset of symptoms. A lower proportion of those employed in skilled, unskilled, and sales jobs informed their employer of their condition. Although some employers were extremely helpful in terms of providing equipment or changing hours, some AwNMD felt that employers did not fully understand their mobility restrictions. A small number of AwNMD had reduced their hours at work, or retrained in the hope of to securing employment that was more suitable. One in five of those who reported that their NMD made their work difficult reported that they had used aids to assist them in their work.

f) What are the financial implications for families affected by a NMD? How many carers have to leave employment?

Whether or not AwNMD were satisfied with their current financial situation was associated with employment status, nature of occupation during their longest period of employment, age at retirement, and general health. Just over half the AwNMD reported being worried about their current financial situation, two-thirds were worried that they would not have enough money in the future. There was a linear trend associated with age at retirement, a higher proportion of AwNMD who retired at a young age reporting that they were worried about their current financial situation.

Three out of ten RorC had taken a decision to change their job or reduce hours in order to provide care; one third of those who took part in the one to one interviews were full-time carers. Almost three-quarters of families were in receipt of some form of welfare benefit; one third lived in households in which there was no income from employment. Respondents reported that they had found applying for benefits unnecessarily difficult.

5. Discussion

The above sections indicate that the support needs of AwNMD vary considerably. There was evidence that participants and their families experienced difficulty dealing with uncertainty, particularly those who reported being unsure of their diagnosis.

6. Conclusions

Prior to the establishment of the Muscle Network in Glasgow in 1999, many people with an inherited disorder of muscle were not under regular specialist review, and some were unknown to service providers. This study has identified the impact of diagnosis on this population and investigated the experiences of living with a NMD from the perspective of those affected. For many AwNMD diagnosis was a process spanning several years, rather than a discrete event. A small number of participants reported that, rather than support being put in place following diagnosis, services were withdrawn. Recommendations focus on time from pre-diagnosis, through diagnosis, to continuing support. While some recommendations have resource implications, others involve minor changes in working practice and/or awareness raising.

Pre-diagnosis

• People who may have an inherited disorder of muscle should be given some understanding of the length of time that it may take to reach a diagnosis.
• It should be recognised that people now have access to vast amounts of information e.g. using the Internet. Individuals should be informed of appropriate sources of information e.g. the MDC website, and warned that they may find information that is not relevant to their situation or that they may find upsetting.

Diagnosis

• People attending appointments at which they will receive a diagnosis should be given the opportunity to bring someone with them. AwNMD should be given information about the MDC and how to make contact.
  Where the person being diagnosed is a young person every effort should be made to ensure that they feel involved rather than that their parents are receiving the diagnosis.
• In situations where the diagnosis is ‘generic’, e.g. muscular dystrophy, rather than ‘exact’, e.g. Becker’s MD, care should be taken to explain the implications of this to patients and their families.

Post diagnosis

• People who have received a diagnosis should be contacted within a week and offered follow-up appointment or home visit.
• Patients and their families should be given a list of contacts in their area including health and voluntary organisations and information about how to access information.
• Medical records should be tagged in such a way that relevant cases can be easily identified when new tests/medical knowledge become available, particularly where individuals may wish to have children.
• Where appropriate AwNMD should be offered employment advice and/or information about welfare benefits.
• Family members should be informed that they may be carers and that they have a right to an assessment.

Continuing support

• All AwNMD should be contacted annually and offered an appointment with a consultant and/or members of a multi-disciplinary team.
• AwNMD should be referred to specialist services as required, e.g. physical disability teams, pain clinics. AwNMD should be able to self-refer.
• Where appropriate AwNMD should be encouraged to use general leisure facilities, e.g. gyms, swimming pools. AwNMD wishing to use such facilities should be able to provide them with contact details for a MDC physiotherapist or occupational therapist who can advise on access/suitable levels of exercise etc.

Miscellaneous

• The MDC should consider funding an increase in the number and remit of FCOs, who are ideally placed to support AwNMD and their families in a variety of situations. For example liaison with schools, social work departments, and employers, helping young people achieve independence, and pointing individuals and families in the right direction for more specialist help on a variety of topics e.g. marriage guidance or sexual therapy, family planning.
• A database of all people with a NMD in Scotland should be compiled. Individuals whose diagnosis may have changed due to the development of knew knowledge should be contacted and asked if they would like more information.
• NMD should be included in strategies for the management of chronic illness in all health board areas.
• The NHS wheelchair voucher scheme should relax their eligibility requirements to encompass applicants who do not need to use a chair within the home.
• The MDC and the Muscle Network should update their websites, making them more interactive, and review their information leaflets.

7. Importance to NHS and possible implementation

The findings of this study provide the Muscle Network with information which will be valuable in planning further support and care for affected individuals and their families.

8. Future research

Further research should focus on ways in which services in rural areas could be improved, and ways in which AwNMD could access general leisure facilities with support if required.

Further details from Dr Pauline Banks/Joanna Edson, Strathclyde Centre for Disability Research, University of Glasgow, Adam Smith Building, Glasgow G12 8RT

Strathclyde Centre for Disability Research