Health: Neurofibromatosis Type 1

Lord Hunt of Kings Heath Excerpts

Tuesday 13th January 2015 Grand Committee

Asked by

[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.