Muscular Dystrophy Campaign and Duchenne Family Support Group

Transition Workshop held on Sunday, 26 November 2006 at the Marriott Hotel, Huntingdon

Delegates:

25 - adult parents/carers (5 of whom are DFSG Trustees)
6 - 12-15 yr olds
3 - 20-23 yr olds
4 – MDC staff
1 – MDC Trustee

What is Duchenne muscular dystrophy?

It is one of more than 20 types of muscular dystrophy. All the muscular dystrophies are caused by faults in genes (the units of inheritance that parents pass on to their children) and they cause progressive muscle weakness because muscle cells break down and are gradually lost. The Duchenne type affects only boys (with extremely rare exceptions) and a problem in this gene is known to result in a defect in a single important protein in muscle fibres called dystrophin.

How serious is it?

This is a very serious condition. Most affected boys develop the first signs of difficulty in walking between the ages of one and three. They are usually unable to run or jump like their peers, often struggle to climb stairs and need to use a banister for support. Rising from the floor can also prove difficult.

As the condition progresses, boys with Duchenne muscular dystrophy are unable to walk as far or as fast as other children and may occasionally fall down.

Between the ages of eight and 11 (rarely earlier or a little later) boys become unable to walk and by their late teens or twenties the condition is severe enough to shorten life expectancy.

However, many forms of management are now available that have changed the outlook and which we believe in most cases can help with the complications of the condition.

How common is it?

About 100 boys with Duchenne muscular dystrophy are born in the UK each year. There are about 1,500 known boys with the disorder living in the UK at any one time. For the general population the risk of having an affected child is about one in every 3,500 male births.

Is there any treatment?

Unfortunately no cure has yet been discovered. But we do have ways to manage the condition which help with its complications. These have had a very important impact on the quality and length of life that can be expected with this condition. A great deal can be done to help limit the effects of the muscular dystrophy and this includes treatments which are now definitely known to help some of the problems which may be life threatening, but no treatment is known which affects the actual loss of muscle cells though.

Intensive research to find a cure is carrying on in many centres around the world. You can find updates on progress in this area in the Muscular Dystrophy Campaign magazine Target md and on this website.

Transition services are a major issue for these young men. The purpose of the meeting was to gather information relating to the needs of these young people as they move on to adult life. The workshops were informal and discussed:

• Clinical Management

• Social Services/Direct Payments/Benefits

• Education/Employment

• Housing/Respite

• Sexuality

There were also two sessions for the young people when general issues and sexuality were discussed.The findings are listed below:

Clinical Management

There was concern that centres of excellence e.g. Hammersmith Hospital, were moving on patients attending paediatric muscle clinics to the adult neuromuscular clinic at Hammersmith. The purpose of attending this adult clinic was to move them on again to more local hospitals, thus taking away the opportunity for over 18s to attend centres of excellence.

The Royal Brompton Hospital has developed up to date techniques for respiratory and cardiac care for Duchenne, prescribing beta blockers, ACE inhibitors and hyoscine patches. The good news is that, although the consultant - Dr Anita Simonds - is a physician for adults, she sees all boys and young men. The bad news is that patients attending other hospitals in different areas of the country do not have these drugs prescribed as a matter of course to manage respiratory and cardiac symptoms.

Some people do not bother attending muscle clinics at all, but rely on local hospitals.

Some discussion around night time ventilation. Some doctors in a few areas of the country do not recognise the importance of night time ventilation being introduced at an early stage and wait until an acute episode of respiratory failure. Those whose sons use ventilation machines for several hours at a time or overnight were not always aware that you are entitled to a spare machine as back up. The case of the young man who lost his life because his machine failed while he was travelling was mentioned – the machine had not been serviced for three years.

Some people not aware that over 18s are entitled to an Exemption Certificate so they don’t have to pay for prescriptions, on the grounds of having a continuing physical disability that means you cannot leave your home without the help of another person.

Access to physiotherapy becomes almost non-existent as the boys get older. This service is generally scarce whatever the age of the child.

We did not have time to discuss occupational therapy or wheelchair provision.

Social Services, Direct Payments and Benefits.

Transition is more difficult due to lack of communication between Children and Young People’s services and the Adult services

There is no co-ordinator

There are no social workers to attend reviews on transition

There seems to be no overall responsibility

There is no one to let parents know about the access to services and what is available

Parents feel MDC is at fault by withdrawing the FCO’s in some areas. Raises the question should this service be provided by a charity or the NHS.

There is a need to identify a social worker/co-ordinator, for each child going through transition and to attend reviews so they are aware of the care package needed

There is a failure by government to devolve enough monies to give to voluntary agencies to do some of the work Social Workers should be doing. Felt this was very poor as the government had promised to do this.

There has been a positive outcome from Direct Payments for 18- 19 year olds some parents unaware you can have direct payments for children. If funded through continuing care you are not able to have direct payments this is an anomaly as a person can have social services care, ILF and direct payments.

There seem to be no options for choice with direct payments and services

Felt there was a need to have an advisor to help pull this altogether i.e. Family Care Advisor, possible funded by NHS, S.S and education.

Use Connexions – colleges come to annual reviews of children and they can visit colleges prior to moving there. Connexions were set up to do the co-ordinating between services; this does not seem to be happening.

Social Workers close case when problem is solved, no longer are cases kept open.

It would be nice to see one person take ownership of family from 14+ to liase with everyone who has had input into the child’s life

Provision of therapies and anything the child is receiving should not stop when they leave school, at present these are provided weekly until leaving school/college. Regime should not change once 16/18 it should keep on into adult services.

Social Care does not look at the person only a child/adult, not seeing the needs

Benefits are still not well known about and are not widely discussed. Child benefit goes on until the child leaves college or reaches the age of 20

Benefits – MDC to have a full run down of the benefits available that parents or adults can apply for. To make people aware that they can approach welfare rights and how to do this; put this in TARGET

Parents feel they shouldn’t have to fill in forms as this is a medical condition and it has a known prognosis, it ought to be an automatic response to receive DLA dependant on the condition.

Felt the carers allowance is not worth the money for care needed, why not give carers allowance regardless of parent working as most have to care through the night anyway and children are being looked after at school through the day.

A 12 year old has been unable to have Direct Payments due to risks within the home. The parents have had to fight for everything, they should not have to. The Disabled Facilities Grant takes for ever to get and have the house adapted.

Parent has own business and due to working and looking after child has had to bring in extra staff to be able to care.

Path is mapped out for son they feel they shouldn’t have to ask for everything.

No respite Care due to bed blocking. The only break they can get is by getting carers in

Education and Employment Issues

School education:

People were happy with school provision. They valued the availability of choice of attending a mainstream or special school.

Connexions Service:
Most people had found the Connexions Service very helpful. They liked having one advisor working with them. The few people who had not found the Connexions Service helpful had someone who was not familiar with the needs of a disabled person. This demonstrated a clear need to have Connexions Advisors with specialist knowledge about the options open to people with physical disabilities.

Employment Services:
There was a lot of concern about the lack of employment opportunities open to people with DMD. The Disability Employment Advisors (DEA’s) at the Job Centres were seen as hopeless. It was felt that there was a need for a small specialist team of DEA’s who could provide specialist advice and support to staff in local offices (a bit like a specialist muscle centre). There was a lack of awareness of the availability of Access to Work. Some people felt that legislation was unhelpful because it encouraged employers to take on people with less severe disabilities. It was felt that government should help employers to fund sick pay etc for disabled people.

There was a lot of interest in the Neuromuscular Centre in Cheshire and in the possibility of setting up other such centres elsewhere. To do this it was felt it would be necessary to have government (or lottery) funding to aid start up costs. People wondered about the possibility of setting up such centres in partnership with specialist colleges like Lord Mayor Treloar.

University:
Because A level results do not come out until mid August and university starts in late September/early October it leaves people with insufficient time to organise care packages, accommodation and equipment for university. Some universities have excellent Disabled Student Advisors but others were hopeless. Many universities and Social Service Departments would only help with arranging a student's physical care needs – leaving students socially isolated. This is something universities could easily help with – asking other students to act as befrienders for example.

Leaving home to go away to university was seen as difficult mostly due to difficulties with having to rely on agency care workers – no guarantees of continuity of care/quality of care.

Further Education Colleges:
We did not discuss this much but there are some problems with care and transport – and with accessing suitable courses.

Daytime Occupation:
For those not wishing or able to go to work or continue in education (or who have reached their goals educationally) there is a real lack of age appropriate day care. Young disabled people may include those up to 60 – clearly inappropriate for young men with DMD. More thought needs to go into providing stimulating, worthwhile things to do within local communities.

General Points:
There was a frustration that systems always measure what it is easy to measure (how many hours care etc etc) not the other important things like emotional needs, how these are met and what the quality of a service is.

It was felt that care pathways for DMD are needed in health, social services and employment/education services – with joined up working.

Housing and Respite

Agreed that having your house properly and fully adapted when the boys are young makes a considerable difference as they get older though this is not always possible because of the need for coming to terms with the diagnosis and getting advice and money for what is needed.

As the boys get older the level of care needed is more and we also get older – physically and emotionally exhausting.

The question is how to ensure maximum independence whilst at the same time acknowledging many of the boys do not want to live away from home.

Respite is complex once boys are over 18 as the same support is not so available. The only “hospice” available is Douglas House in Oxford.

Direct payments may offer options but are variable around the country and there is the issue of finding carers.

Sexuality

As parents we recognise that this is a difficult subject for the boys to discuss with us — but we are unclear where to go for support.

The difficulties relate to concerns of isolation and the problem boys have in meeting people, having friendship and going to places independently – The boys need to be able to go out and meet others.

All agreed that hospice respite can give them the possibility of building relationships with others.

Main difficulties seem to arise as they leave school – their friends have gone to college and are not available daily and there is a lack of social contact.

As parents we also recognised that our concerns are mixed with guilt that they are missing out on what their siblings are experiencing.

One of the ideal ways around the problems might be to have a young male carer who they can go with to events, pubs etc. and meet others.

If they do want more than just friendship, difficulties are:

1. Computer agencies – are they OK?

2. Having a carer present may cramp style

3. May need carers who are relationship trained.

Discussion with 12 – 15 year olds

No issues around education. Acknowledged that parents had battled to ensure accessibility to schools.

After school activities included wheelchair football and cricket, drama and theatre. In most instances access to disabled area at premiership football clubs is restricted to season ticket holders – many of these families can not afford this luxury.

In some instances there were problems with transport to and from school – transport not available or long journeys.

The Hammersmith clinic praised for availability of electronic games to pass the long waiting times.

Discussion with 20 – 23 year olds

Facilities and course provision at University worked well. The difficulties were social – developing relationships/lack of volunteers willing to take you out. Something that should be reviewed by University personnel.

Lacked confidence and were shy. Felt that using chat rooms/introductory web sites would make you appear desperate.

Need for a carer to be present at all time – need to carefully plan care hours using a discreet carer who remains in the background.

Due to living at home it is easier not to make an effort to socialise outside of close family network.

MDC to look at opportunities for young people, with all nm conditions, to meet.

Websites:

www.outsiders.org.uk – £12 p/a for non wage earners. Offers isolated people chance to contact others. Also has a Sex & Disability helpline Mon-Fri 11am – 7pm.

www.disabledfriends.com – free registration. Meeting place for disabled people.