Getting A Diagnosis

When you first hear that you or a member of your family may have NF, it can be upsetting. If you have never heard of this condition it can also feel frightening, especially as it has a long unfamiliar name.

A helpful doctor will recognise those feelings and support you with finding out more information at your pace. There may be a delay between the first hesitant suggestion of a possible diagnosis and the confirmation of that. Waiting for this can be difficult and cause anxiety.

The doctor who first talks to you about NF may not be a specialist in the condition itself. They may suggest that you should have an appointment with other specialist doctors to confirm what is suspected.

One of these specialist services is the genetics department. Genetics and genetic counselling is an NHS service based in regional hospitals. The doctors and professional team working there specialise in health conditions that can be inherited (passed on) in families. To access this service you have to be referred by a doctor (either your GP or another specialist doctor caring for you).

Clinical genetics services help to make an accurate diagnosis. They can offer you information about NF and explain what the diagnosis means for other members of the family. The doctor (geneticist) can answer questions about how the condition has occurred, what are the possible problems that can arise, and how best to manage these. They can discuss the choices you can make if you are planning to have children and the risks of passing an inherited condition on.

As NF is unpredictable condition and varies from one person to another, it is not always possible to tell what may happen in the future. For this reason it is helpful to find a doctor who you trust and who you feel will take your concerns seriously.

A diagnosis of NF means that you will need to have some regular health checks. It is important that these checks are done so that potential health problems can be picked up early and assessed for any treatment that is available.

Different people manage their feelings about a new diagnosis in different ways. Some will want to find out as much information as possible. Others want to know just basic facts. These are different ways of adjusting to a new situation. There is no single right way.

(For more detailed information about getting a genetic diagnosis click on link to www.cafamily.org.uk "A genetic condition in the family". For more detailed information about genetics and genetic conditions link www.gig.org.uk)