Improved access to information can help patients and families living with Neurofibromatosis type 1
Genetic Disorders Children diagnosed with NF1 should be seen by a specialist pediatrician at least once a year. Dr Huson is keen to see a comprehensive care programme provided for everyone with NF1, so both children and adults can get the right medical treatment, social and educational support they need to live well.
There are approximately 25,000 people in the UK living with Neurofibromatosis type 1 (NF1), which is a disease that causes non-cancerous tumours to grow along the nerves. NF1 is a genetic condition that occurs when there is a fault in a gene found on chromosome 17. Whilst diagnosis is relatively easy, treating the disease can be much more complex as the symptoms vary and access to treatment is inconsistent across the country.
The early signs of NF1 can be spotted shortly after birth as flat brown birthmarks, known as café au lait patches, can be found on the skin. As a child grows they may also develop freckles in unusual places and as young adults they begin to develop lumps on the skin, known as neurofibromas, which are benign tumours.
“Babies with NF1 will generally have six or more of these patches across the body by the age of two,” says Dr Sue Huson, Consultant Clinical Geneticist at St Mary’s Hospital, Manchester. “Back in the 1980s doctors just dismissed them as birthmarks, but now we know their significance we want to encourage GPs and health visitors to look for them as part of the routine early childhood checks.” The diagnosis is then usually made on clinical grounds by a clinical geneticist or pediatrician experienced in NF1.
“There is a lot of confusing and misleading information out there. For example, NF1 is associated with certain types of cancer and problems with eyes and bones, but these complications are very rare and it’s important that families know the facts.”
Learning and behavioural difficulties on the other hand, are very common in children with NF1. Research carried out by the University of Manchester showed that one quarter of all children with NF1 are on the autistic spectrum. Further research from the Netherlands also observed that children with NF1 were not performing as well at school as they should have done for their IQ level. Attention deficit hyperactivity disorder (ADHD) is seen in about half the children with NF1 but the main problem is with concentration rather than hyperactivity and this is often missed. Dr Huson described one of her patients being on the verge of school expulsion prior to starting on medication for ADHD.
“The problem is there are such a variety of symptoms that no one medical specialty has taken NF1 under its wing,” reports Sue. “NHS England has funded a complex NF1 service and we’ve developed two specialist centres in London and Manchester focused on providing all round care for patients with particularly severe NF1. However, there’s a big disparity between the care provided for everybody with NF1 in different regions. Organisations like The Neuro Foundation are doing a great job at providing a network of specialist regional advisors and an information helpline, but it’s vital people are provided with the right information and put in touch with others who can support them.”
About The Neuro Foundation
The Neurofibromatosis Association was established in 1981 by families with a diagnosis of neurofibromatosis to help others. It became a registered charity in 1982, and a limited company in 2000. In September 2010 it changed its name to The Neuro Foundation. This is the working name of the charity, while its legal name is retained as The Neurofibromatosis Association. The mission of The Neuro Foundation is to enable people concerned about neurofibromatosis to find solutions appropriate to them.