Written evidence from Action Duchenne
(COM 77)
EXECUTIVE SUMMARY
— Duchenne Muscular Dystrophy is a serious,
progressive, high cost condition with no cure.
— Action Duchenne believes there has to
be a budget for Rare Diseases, to ensure ring-fenced resource
for rare conditions such as Duchenne.
— The DOH white paper Liberating the NHS:
Commissioning for Patients and Achieving Equity and Excellence
for Children makes no reference to how rare, serious, high cost
conditions such as Duchenne will be managed.
— Action Duchenne has grave concerns regarding
both the provision and standards of care for boys with Duchenne
Muscular Dystrophy under the proposed changes to the NHS outlined
in the White Paper.
— As highlighted in Achieving Equity and
Excellence for Children, Standards of Care are generally poorly
met. Within the UK there is extreme variability in Standards of
Care, costing the lives of Duchenne patients and adversely affecting
quality of life. Life expectancy for those living with Duchenne
in the UK is half of that for those living in Denmark. Within
the UK there are significant differences in life expectancy, with
those living in the south west facing significantly poorer outcomes
than those in the north east, where life expectancy is the highest.
— The only way to improve this is through
specialist led multi-disciplinary services, ring fenced budgets
and high quality, ring-fenced commissioning of the services required.
The White Paper gives no indication of how this could be achieved
with the GP consortia model.
— Due to the rarity and complexity of the
conditions GPs are inexperienced and ill-equipped to manage or
commission care for boys with Duchenne Muscular Dystrophy.
— Lack of any proposals for how to manage
rare and costly conditions such as Duchenne in the new structure,
can only lead to reductions in what is already a poor quality
service, costing quantity and quality of life in patients and
their families.
1. Rare Diseases—Duchenne Muscular
Dystrophy
1.1 Duchenne Muscular Dystrophy is the most
common lethal genetic disorder, affecting one in 3,500 male births.
There are between 1,500 and 2,500 boys and young adults living
with the condition in the UK, which is a severe and degenerative
muscle wasting disease. It is caused by a defect in the gene which
produces dystrophin, essential for muscle function. The disease
progresses with weakening of the proximal muscles, ultimately
leading to complete paralysis. The lack of dystrophin in the respiratory
and cardiac muscles leads to a life expectancy in the late teens
or early twenties. There is no cure or treatment to halt or reverse
the onset of Duchenne which is predictable, progressive and life-limiting.
2. Standards of Care
2.1 Care for boys with Duchenne is complex
and varied. Recently published standards of care (published in
the Lancet Neurology in Jan/Feb 2010) by Prof. Kate Bushby et
al, a top UK specialist working with a team of over 80 specialists,
indicate the breadth and depth of multi-disciplinary specialities
required at even a basic level of care. These range from provision
of consultant time, physio and hydro-therapy and steroid treatment
in the younger boys, to spinal surgery, EPIOC wheelchair provision,
PEGs, ventilation, cardiac management, and full time care for
adolescents and young adults. Emergency admission procedures must
be adhered to, to prevent unintentional mistreatment. Given the
nature of emergency admissions, appropriate and timely treatment
is critical. It is Action Duchenne's experience, that not only
are some hospitals woefully uninformed about Duchenne, but they
are also unwilling to take advice from specialists. This has resulted
in patients receiving painful and needless procedures (had proper
treatment been given initially) like tracheostomys and in the
particularly high profile case of Arvind Jain (that hit the press
this summer) premature death.
2.2 Patients receiving joined up care following
the standards laid out can have their life expectancy raised by
ten to fifteen years. Where the multi-disciplinary approach to
care has been adopted, for instance, in Denmark, those with the
condition live to their 30s and 40s where as in the UK life expectancy
is late teens, early 20s.
2.3 The Minister for Care Services, Paul
Burstow is reported as wishing to see the NHS compare more favourably
with EU nations care in its treatments of various medical conditions
and as Shadow Secretary of State for Health has personally authored
work in this field, criticising the previous government's failure
to support neurology services. This report included a range of
conditions including Muscular Dystrophy.
3. Commissioning
3.1 The Select Committee has asked "How
will vulnerable groups of patients be provided for under this
system?" The complexity of the care required means that commissioning
high quality joined up services is vital. It is of high concern
that the proposed GP consortia will not have the experience or
resources to commission the fully integrated service that these
boys require to lead as long and as dignified a life as possible.
3.2 It is noted that the NHS Commissioning
Board will be able to "commission certain services that
are not commissioned by consortia , such as the national and regional
specialised services" (paragraph 2.8 of Commissioning
for Patients). Referring to national and regional specialist commissioning,
paragraph 3.3 of Commissioning for Patients states that:
"(national and regional specialised commissioning)
will ensure that patients with rare conditions can be sure of
high-quality and cost-effective treatment and are treated equitably
with people who have more common conditions."
3.3 An assurance must be provided by the
government that care services and future treatments for Duchenne
Muscular Dystrophy will be delivered through specialist commissioning.
3.4 At the same time, there are concerns
that the proposed reforms increase the risk high cost centres
for rare conditions such as neuromuscular centres will be squeezed
out by centres for more prevalent, easily managed disorders. Given
the lack of experience in commissioning and possible reduction
in specialist centres, Action Duchenne wishes to understand precisely
how these specialised services will be commissioned effectively
and equitably across the UK? The Select Committee has asked "What
arrangements are proposed for commissioning of specialist services."
The White Paper and supporting documents, rushed through over
the summer months, provides an alarming lack of detail in this
respect.
3.5 A failure to provide a sufficiently
robust funding model, set at a national level, will not only be
to the detriment of those patients requiring care now, but will
most likely result in the loss of the experience and highly skilled
clinicians and researchers who will migrate to better funded centres
outside of the UK.
4. Specialist led services
4.1 The Select Committee has asked "How
will vulnerable groups of patients be provided for under this
system?" Specialist consultant support is vital, and key
to managing the condition well. Due to the rarity of the condition,
it is unlikely that most GPs will come across a sufferer in his
or her career. The lack of exposure to and experience in managing
the condition means that under the proposed system, most GPs will
not be adequately informed, equipped, trained or prepared to manage
boys with Duchenne. Small variations in clinical judgement can
cost lives. Action Duchenne believes that specialist led services
are vital and the White Paper does not give any clarity on how
specialist led conditions will be managed giving a scant reference
to care for rare conditions being commissioned by the NHS commissioning
board, which would be the only way to effectively fund the management
of the condition.
4.2 Many PCTs have already failed to provide
appropriate standards of care in many patients across the UK,
as highlighted in Sir Ian Kennedy's report Getting it right
for children and young people: Overcoming cultural barriers in
the NHS, and Action Duchenne is alarmed that GP consortia
will have a lower level of knowledge of the condition and of commissioning
processes and therefore be even worse than the current state of
care.
4.3 The Select Committee have asked "Will
the new arrangements safeguard current examples of good practice?"
With the emphasis on budget controls within the White Paper, there
is the concern that without ring-fenced funding the current "centres
of excellence" for neuromuscular conditions in Newcastle
and Great Ormond Street Hospital will lose out to other higher
profile diseases that are more prevalent.
5. Costs
5.1 The Select Committee have posed a number
of questions about resource allocation. Duchenne Muscular Dystrophy
is an enormous cost to the NHS. No UK study exists yet but an
equivalent Australian study that was carried out in 2007 by the
Muscular Dystrophy Campaign (Australia) indicates a cost of AU$1.5
billion per year (£915 million), which could be an underestimate.
5.2 Emergency admissions, often due to poor
standards of care, are extremely expensive to the NHS. While care
for a non-ambulatory boy with Duchenne is high, an emergency admission
is a far greater cost. In Wales alone, there are some 1,355 emergency
admissions[146]
each year at a total cost of £3.92 million, whereas to provide
the required baseline neuromuscular service to people with neuromuscular
conditions would amount to £471,000. Extrapolated across
England—given the gaps in this basic level of service outside
of the two main neuromuscular centres in London and Newcastle—the
savings would be vast in delivering care which is preventative,
improves quality of life, is more compassionate, supports care
in the community and reduces emergency admissions and long term
stay. In short, it would result in better quality of life for
the patient.
5.3 There are new treatments emerging which
could be of a high cost. There is considerable anxiety that the
proposed GP consortia would not be able to meet the costs of either
management or treatment, and could deny patients treatment they
need as influence from NICE decreases and could even exclude them
from their practice lists. Action Duchenne believes that clear
reassurance needs to be provided that if no national commissioning
budget exists, all the costs of caring for the condition can and
will be met by GP consortia across the whole of England, as well
as across the devolved nations. Action Duchenne believes there
has to be a budget for Rare Diseases, to ensure ring-fenced resource
for rare conditions such as Duchenne.
5.4 Perversely, there is a strong likelihood
that any more informed and enlightened consortia willing to meet
the costs of Duchenne care would soon be overwhelmed by Duchenne
patients from further afield, exercising their right to choose
their GP and wishing to avoid the postcode lottery which currently
blights the care of Duchenne in the UK.
6. Unanswered questions
6.1 Action Duchenne would like to know:
How will the GP Consortia and the NHS Commissioning
Board ensure that Standards of Care for Duchenne patients are
met, given that with the PCT system, half the country have been
without proper care?
6.2 We have seen without exception that
GPs do not have the knowledge and experience of a rare disease
like Duchenne to commission services. Therefore, how will services
be commissioned? Will this be through National Commissioning?
6.3 If this is not to be the case, will
a budget for the treatment of care of patients with rare diseases
like Duchenne be set?
6.4. How will the new GP consortia refer
patients to Specialist Services and who will pick up the bill?
7. A note on the government's consultation
standards
7.1 The government has been criticised for
the excessive speed with which it is seeking to introduce major
reforms to the National Health Service and the failure to provide
adequate time for stakeholders to respond to key White Paper document
such as Commissioning for Patients and Achieving Equity
and Excellence for Children is considered to be unacceptable.
7.2 Achieving Equity and Excellence for
Children was published on 16 September 2010 with responses requested
by 5th October. This is a very short time frame for such an important
response and falls well short of the minimum 12 week requirement
set out in the government's own Code of Practice on Consultation.
7.3 It is also noted that the Code of Practice
on Consultation seeks a longer than 12 week period for consultation,
where such an exercise takes place over the summer break; this
has not been the case with the Health White Paper. There are serious
concerns that the government has failed to provide adequate time
for a full and meaningful "conversation" with patient
groups, clinicians, nurses, GPs and other key stakeholders.
ABOUT ACTION
DUCHENNE
Action Duchenne was set up by Duchenne families
in 2001 to promote new research for a cure for Duchenne. The charity
has a strong record in funding research The Charity has directly
funded or supported projects in partnerships for over £4
million since 2003. Action Duchenne has worked with the MDEX consortium,
Department of Health, Medical Research Council in the UK to deliver
new clinical trials for Duchenne drugs. These projects have enabled
much needed early work to be completed on exon skipping and other
therapeutic approaches.
Action Duchenne holds an international conference
every year to bring together researchers and families to exchange
new research developments and provide a vital meeting venue for
scientists.
Action Duchenne provides direct services to
those living with Duchenne. In 2005 Action Duchenne launched the
Duchenne Registry, the first National Duchenne database that holds
gene information of people living with Duchenne and can be used
to speed up the recruitment of patients for clinical trials.
In 2006 Action Duchenne launched a comprehensive
learning and behaviour toolkit for use by parents and education
professionals.
In 2007 the Charity with support from the Big
Lottery and Children in Need launched an Inclusive 500K education
project that has supported younger boys with learning and behaviour
problems across 85 UK schools.
In 2008 the Charity developed the Genius project
with young volunteers 16-25 to develop exciting events invloving
Duchenne young men. This included an award winning photography
exhibition and a film making project.
October 2010
146 The Thomas Report: Access to Specialist Neuromuscular
Care in Wales. Back
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