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.