Health: Neurofibromatosis Type 1
(9 years, 11 months ago)
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Lord Hunt of Kings Heath
To ask Her Majesty’s Government what plans they have to improve the diagnosis and treatment of neurofibromatosis type 1.
Lord Hunt of Kings Heath (Lab)
My Lords, I am delighted to open this debate on the provision of services for people with NF1. I am very grateful to my noble friend Lord Bassam for alerting me to the issue and, indeed, for speaking in our debate today.
Essentially, I am concerned at the lack of a cohesive strategy within the NHS for dealing with this condition, particularly with problems of early diagnosis and lack of support for sufferers and their families. NF1 and NF2 are a group of genetic conditions that predispose people to the development of tumours of the nervous system. NF1 is one of the commonest genetic disorders. NF2 is much less common, with only around 800 people affected in England at any one time. The care of all NF2 patients is nationally commissioned through four specialist centres. However, NF1, although more common, is far from being a household name.
The diseases involve the skin and nervous system predominantly. People with NF1 have an increased risk of developing a specific NF-related cancer. The rare physical complications can affect most of the body’s systems. This can evidence itself in physical difficulties and deformities. At least 80% of people with NF1 also have learning, educational, psychological, communication and behavioural difficulties. A recent UK study published in the Journal of Pediatrics showed a high prevalence, 25%, of autism spectrum disorder in NF1 patients and confirmed the findings of previous studies that 50% of NF1 children have attention deficit hyperactivity disorder, yet only 3% of the children in the study had actually been diagnosed with either condition. According to the Department of Health, it is estimated that there are more than 11,000 individuals with NF1 in England. However, research published in 2010 by the excellent Manchester Centre for Genomic Medicine suggests that there could be more than 18,000 people with NF1 in England.
One of the problems is that the care of NF1 patients does not fall within the remit of one particular medical specialty, and therefore care is frequently disparate and fragmented. NF1 has little profile compared to other conditions, and this is as true of clinicians as of the general public. In a recent Written Answer, the noble Earl said that there were currently no plans for raising awareness activity in relation to NF1. Instead, he referred to the NHS Choices website for information. This is not sufficient. Fifty per cent of people with NF1 are the first in their families to have the condition due to a new genetic mutation. In these cases, early diagnosis is a particular problem. Indeed, an opportunity for early diagnosis is often missed by health professionals as they may lack an understanding of the condition. Many parents face a wall of ignorance from their GPs and have to fight for appropriate referrals and sometimes go privately. We know of cases where parents have been threatened with having their children taken into care because a health professional has taken marks on the skin or fractures through abnormal leg bones as evidence of child abuse. Some patients have rare complications that can cause significant morbidity and are frequently life threatening. They need access and long-term monitoring by specialist teams to allow widespread access to specialist care.
Since 1990, excellent clinical services have been developed by the neurology department at Guy’s and St Thomas’, and the Manchester centre that I have already mentioned. At any one time, these two centres have approximately 500 patients with complex NF1 under their care. However, the majority of people with NF1 are reliant on services up and down the country, which are often fragmented, and many areas lack specialist clinics. Although both specialist centres work closely with the national charity, the Neuro Foundation, much more needs to be done to get an integrated approach across the NHS. One huge asset is the small but invaluable network of specialist advisers variously funded by the NHS and the Neuro Foundation. The value of the network is demonstrated every day. The unique and specialised work of the advisers with individuals, families, health professionals, schools and other voluntary organisations is highly valued. Working from a base within an NHS trust, and with strong links to the regional genetics centres, they link with the many other professionals involved in the care of anyone with NF1. There are only six advisers in England, three of whom are part-time. They are very hard pressed and cannot cover the whole country.
One solution to the problem of misdiagnosis would be to use the personal child health record—the red book—which is a national standard health and development record given to parents at a child’s birth. The parents retain the red book, and health professionals should update the record each time the child is seen in a healthcare setting. It comes under the auspices of the RCPH. I very much hope that it will consider adding checks relating to birth marks to the content of the record. Will the Minister lend his support to that?
I mentioned earlier the lack of educational attainment by young people with NF1. The commonest undiagnosed problems found in children seen in the two specialist clinics are undiagnosed learning and behaviour problems. I have heard of cases where statementing took place only towards the end of a student’s career in school. We must put this right. It is also vital that the DWP looks closely at the support available for people with NF1 in their efforts to enter the world of work. The recent changes in unemployment benefits have caused many people with NF1 considerable distress. I am also aware of people being unsuccessful because their facial appearance is different.
I am also alarmed at the lack of opportunities for young people with NF1 to get together and socialise. They are often left isolated. When they get together, they realise that they are not on their own and other young people suffer from the same issue. The same often goes for their parents. For the past two years, through hard work in fundraising by two mothers, a small number of children have attended a week-long NF1 camp. In Scotland, the charity Funny Lumps now runs regular get-togethers for NF1 children and their families. However, all children with NF1 should have these opportunities.
In the UK, we have two fantastic specialist centres—Manchester, and Guy’s and St Thomas’—which have made major contributions in NF2, learning and behaviour in NF1 and early diagnosis of sarcoma in NF1. Yet more is needed to fund UK treatment trials and to look at cost-effective models of care and social support for people with NF1.
In conclusion, will the noble Earl consider how the Government could recognise that more needs to be done to help people with NF1? Is he prepared to meet the Neuro Foundation to discuss these matters further? Will he support the red book embracing NF1? Will he support efforts to employ more specialist advisers? I have been advised that ideally we need 20 throughout the UK. Clearly, we need a partnership between the Department of Health, NHS England, specialist centres and the Neuro Foundation. Can he assure me that funding for the specialist centres for complex NF1 and NF2 conditions will be maintained? Will the Government encourage efforts to enable young people with NF1 to come together for socialising and activities? Will he talk to colleagues in the Department for Education to get early access to statementing for children? It is vital that NF1 is included on the list of progressive conditions as far as the DWP is concerned. Will the Minister be prepared to liaise with the DWP on this? Finally, can the national research strategy be amended to ensure that there is sufficient research into the treatment and causes of NF1?
I end by paying tribute to the specialist doctors, nurses and other clinicians who play such a critical role in providing help to patients affected by this condition. I pay tribute to the Neuro Foundation and Funny Lumps, which are very small charities indeed, consist of dedicated volunteers and are backed by a small number of part-time very hard-working staff who champion the cause of people with NF1 and NF2. I also pay tribute to the parents and carers of those with this condition who are utterly dedicated to supporting their children. Most importantly, people with NF1 deserve better.
Lord Bassam of Brighton (Lab)
My Lords, I promised recently when I spoke in a debate on House procedures that I would not, as Labour Chief Whip, make a habit of speaking, so I owe noble Lords an apology for this reappearance so soon. I am looking over there at “The Judgment of Daniel” with a finger pointing in my direction and I am becoming worried.
However, I make no apology for speaking out on this issue and I am sad, if unsurprised, that the debate has attracted so few here today, although this rather makes a point. Few people know of the neurofibromatosis type 1 condition and, I suspect, even fewer know of its debilitating effect on individuals with the condition and on their families. I confess that I was largely unaware of the condition and its impact until early last year when I, by chance, read an article reviewing the film “Under the Skin”, starring Scarlett Johansson and a young NF1 sufferer, Adam Pearson, who plays a major role in that film. Shortly after watching it, I met Nicole Martin, who has NF1, and her mother Vanessa. Talking to them, I learnt more about the condition and the issues it gives rise to. I decided that Nicole and Vanessa were heroes for the way in which they had tried to raise awareness of NF1. It was then that my noble friend Lord Hunt, to whom I am extraordinarily grateful for calling this debate, and I decided to try to help in their work.
NF1 is the least known but most common genetic condition. It is estimated that across Britain there are some 25,000 sufferers who can be identified at birth, but for whom there is no cure. One NF1 child is born every day, and one in 2,500 children is born with the condition. Each has a 50% chance of passing it on to each of their own children.
The problem with the lack of awareness is that it leads to a lack of understanding from health, education and public service professionals—the very people who need to know how to respond to those needing help and support. Vanessa Martin explained to me that, while the signs were present from birth, diagnosis was not made until Nicole was three years old. In another case, a Reading parent, Nicky Clifford, told me that her son was not diagnosed until he was eight. By that age, most of the disadvantages that my noble friend referred to and NF1 sufferers confront have already become entrenched. However, many more people are not diagnosed until they are in their 30s or become parents themselves, having unwittingly passed the condition on. At that point, parent and child are often diagnosed at the same time.
NF1 manifests itself in different ways. Basically, tumours grow on the nerves inside the body and on the skin. This leads to severe disability, constant pain, itching, cancers, epilepsy, high blood pressure, bone abnormalities, speech and language problems, dyspraxia, learning and behavioural difficulties, and mental health issues. The condition is also unpredictable—it mutates and changes all the time. Just this morning, I heard that over the past weekend a number of new and painful tumours had grown quickly on Nicky Clifford’s son’s head. His mother of course is now desperate to get an emergency appointment with a paediatrician and an MRI referral.
In the case of Nicole Martin, now 17, she has done remarkable things with her life. Until quite recently, Nicole had hoped to represent the UK in judo at the Special Olympics and, despite lengthy periods of hospitalisation, is doing astoundingly well at her sixth-form college and plans to go on to higher education.
But why is she doing so well? It is largely because both she and her mother are very determined people. Nicole was referred to a specialist NF1 centre in Manchester, to which my noble friend referred. This led to a further referral to Oxford and the removal of tumours. She has now moved from facing the prospect of a life in a wheelchair and living with adaptations to walking unaided and with lower levels of pain relief and management. Now she is looking forward to obtaining a degree and seeking employment—something everybody aspires to for their children.
Nicole’s story is indeed inspiring. However, it has been a constant struggle, and the lessons of that struggle seem clear to me. We need to raise awareness in the medical profession to ensure early diagnosis. The café-au-lait, or CAL, examination at birth should be standard and a record made of that test. A follow-up procedure should be put in place and referrals made when and where appropriate. Further CAL checks need to be made throughout a child’s early years. As I understand it, there is currently no such imperative for any recording. The training of medical staff obviously needs to be part of the approach, so that following early diagnosis, support and referrals can be put in place.
I hope that the Minister can this evening confirm that a national strategy is being developed to assist NF1 sufferers. Other specialist conditions such as cystic fibrosis, with approximately 10,000 sufferers in the UK, and motor neurone disease, with around 5,000 people affected at any one time, seem to attract more interest in terms of research, support, specialist advice and training development. I do not think it right to argue one condition against the needs of another, but what the National Health Service might need to do is ensure that conditions that are not widely understood are part of a broader strategy so that sufferers and their families do not feel ignored or left out of care planning.
As very determined parents of NF1 sufferers, Nicky Clifford and Vanessa Martin have usefully found advocates in Vicky Groulef, in Reading, and Sarah Owen, in Hastings and Rye. In itself that is good, but this condition and others should not have to rely on the caring interest of aspiring parliamentarians, which is what they are.
Finally, I make a plea to the Minister. He will be pleased that I am asking not for the release of new or additional resources but for a review of how support is given by the NHS to the organisations that help parents and sufferers of this common but little-recognised condition. This will enable us to be assured that the vital networks that are there to help are properly and effectively nurtured and that the treatment, care and compassion that the NHS is renowned for are unlocked.
The Parliamentary Under-Secretary of State, Department of Health (Earl Howe) (Con)
My Lords, I congratulate the noble Lord, Lord Hunt, on securing this debate and thank him for his obviously heartfelt interest and commitment in this area. I also greatly appreciated the contribution from the noble Lord, Lord Bassam, which was very moving.
The noble Lord, Lord Hunt, described these conditions very clearly. Like so many uncommon disorders, those affected by neurofibromatosis can face a regime of constant condition management, hospital visits and treatments for them to have the quality of life that the rest of us take for granted. However, like the vast majority of people who have to deal with all the problems that such conditions can bring, those with neurofibromatosis respond with bravery and resilience that can only be admired.
At this point, I want to pay tribute to the vital role played by the Neuro Foundation and the excellent work it undertakes to help improve the lives of those affected by neurofibromatosis through the information, advisory, advocacy and other services that it provides. As well as this support and guidance, clearly there is a need for professional help for people with neurofibromatosis, who require the best services the NHS can provide. That is why we continue to invest in and improve our services.
As we have already heard, neurofibromatosis, or NF, is a genetic condition mainly affecting the nervous system and skin and causing the formation of tumours, which in some cases can be malignant. Neurofibromatosis type 1, NF1, is the most common form, with a birth incidence of one in 3,000. The number of people with the condition in England is estimated, as the noble Lord, Lord Hunt, told us, at 11,267. That is a significant number. Furthermore, around 10% of people with NF1 will be affected at some time in their life by a cancer known as malignant peripheral nerve sheath tumours. This is one of the most serious problems that can affect a person with NF1 and requires specialist care and treatment. Government-funded research has included a study to improve the diagnosis of this type of tumour using positron emission tomography—computerised tomography. Both the National Institute for Health Research and the Medical Research Council welcome funding applications for research into any aspect of human health, including neurofibromatosis.
In terms of diagnosis and the care pathway, NF1 is a condition which people are born with. Usually a diagnosis can be confirmed or excluded in early childhood, with most cases of NF1 confirmed through clinical examination and the identification of characteristic symptoms. If, at a young age, there are few or no signs, clinical diagnosis may take longer, but generally clinicians can be confident clinically whether or not a child has NF1 by the age of five years. The suggestion that there may be a way to use the red book in monitoring NF1 or other rare diseases should be considered further.
Undoubtedly, as I am sure noble Lords would agree, all those with the condition, particularly those with a complex form, need and deserve access to high-quality, multidisciplinary care. Since 1 April 2013, NHS England has been responsible for specialised commissioning. Last year, it created a task force which aims to improve ways of working and to ensure that specialised commissioning is undertaken in the most efficient and effective way possible. This work is being carried out with input from key stakeholders. I am sure that we can all agree that it is only right that NHS England keeps all its services under review to ensure that they are fit for purpose. We will need to await the outcome of any review before we can comment on any changes to services. NHS England remains responsible for securing high-quality care for all patients with complex NF1. NHS England’s service specification clearly sets out what needs to be in place for providers to offer evidence-based, safe and effective care, ensuring equity of access to a nationally consistent, high-quality service. As mentioned, we should applaud the excellent work carried out at Central Manchester University Hospitals NHS Foundation Trust and at Guy’s and St Thomas’. The complex NF1 service is accessible by all patients with a suspected or confirmed diagnosis of NF1, subject to an appropriate referral. Patients identified by the service as having non-complex NF1 will have their care transferred to the appropriate local team, as required.
It is worth noting where there have been positive developments in services in recent years. These include: a noticeable increase in the awareness of NF1 through better training of doctors and nurses, particularly through community paediatricians; the development of links between expert centres and local hospitals, and improved transfer of complex patients to centres; and a greater understanding of the disease and the targeting of treatments towards particular clinical problems. The commissioning and consequent funding of these services is relevant at all levels of care, including specialised, secondary and primary care, and there are generally good support systems in place, so we have made recent progress. Clearly, however, more needs to be done, and we all want to see continued improvements in healthcare services for all types of patients.
As part of the implementation of the UK strategy for rare diseases, the Government committed to raising awareness about rare diseases and empowering patients. The Department of Health is currently working with its partners to produce two videos about rare diseases, one focusing on healthcare professionals, particularly GPs, as the first point of NHS contact, and the other providing information for patients and parents about rare diseases.
The noble Lord, Lord Hunt, raised the issue of support for the young in education and finding a job. Obviously, we must support all people to attain their full potential, irrespective of what illnesses or conditions they may have. However, as he will appreciate, assessments of what type and level of support is needed must be made on a case-by-case basis and at a local level. For example, there are clear guidelines for the application of special educational need that take account of many factors. All children with a recognised need are assessed for SEN support, taking into account additional factors such as physical and mental health.
Clearly, there is much work ahead, and debates like this remind us that there are patients out there who rightly demand—and deserve—the best from their NHS. We all support the need to help those who might struggle to build a social life due to the difficulties which their condition presents. We would be interested to hear more about the kind of initiatives which the noble Lord, Lord Hunt, mentioned and would suggest that all avenues of possible funding should be explored by charities and others to put in place programmes that can respond to this need.
The noble Lord, Lord Hunt, referred to the difficulty, in many cases, of achieving a diagnosis. A diagnostic odyssey is not something that any of us would wish on any patient. We are aware of this issue. We are starting to address it and have commissioned early research to get a better idea of the scale of the problem. Part of the answer is raising awareness among healthcare professionals. We are working on this and it will be bolstered, undoubtedly, by the establishment of genomic medicine centres as part of the 100,000 whole genome project.
The noble Lord, Lord Bassam, referred to the difficulty of familial diagnosis of these conditions. It is true that it is a difficult issue, especially as NF1 can be a mutation in the individual, so seeing a family history is often not possible. I mentioned the research that was currently being funded by the NIHR. The chief investigator for the study is Professor Rosalie Ferner, who is also lead for the national NF1 service. Professor Ferner aims to include data from the study in a paper, which is a work in progress at the moment, on long-term follow-up in people with NF1; we await that with interest. Other studies are going on, including an evaluation of the clinical phenotype of malignant peripheral nerve sheath tumours; international prospective clinical evaluation of optic pathway gliomas in NF1, including reasons for commencing treatment and visual and radiology outcomes; the evaluation of migraine in NF1; the development of a disease-focused patient quality-of-life outcome measure for NF1 adults; and other work besides.
We have delivered and will continue to deliver improvements in services for all patients, including those with a rare condition such as neurofibromatosis. I believe that steps are being taken that will lead to a measurable difference to the lives of all those with a rare disease. However, as I have said, we cannot rest on our laurels; more needs to be done. I have no doubt that this debate will continue in one form or another outside this Room. The debate that we have had today has undoubtedly been helpful in promoting a wider discussion on these issues. In the mean time, I thank the noble Lords, Lord Hunt and Lord Bassam, for all that they have said in support of those with this devastating condition and for their invaluable contributions.