A diagnosis of any condition can be upsetting. Being told that you have a life-threatening or life-changing condition that you have never heard of can be particularly devastating. Not only do you need to come to terms with the inevitable changes to your life that are associated with a diagnosis, you need to find out about what support might be available and where you might be treated.
Soon you may know more about your condition than some of the health professionals you come into contact with – for a condition that you may not have known existed prior to your diagnosis.
Yet this is the situation that has faced the millions of people living with a rare condition in the UK. Often these conditions are vanishingly rare but, taken together, they are remarkably common.
There are grounds for optimism. Advances in medical science mean that there are more effective treatments than ever before. The genomics revolution offers further promise.
Yet these treatments come at a cost. Discovering, developing and delivering any new medicine is expensive. For rare conditions, treatments inevitably have a high unit cost and conventional methods of evaluating them for use in the NHS may not work. For example, cost-effectiveness is a less than useful concept for a medicine that will only be used to treat 100 people. Other factors, such as clinical effectiveness, impact on patients’ lives and overall cost impact are more important.
The particular challenges faced with developing medicines for very rare conditions have been recognised by the use of the orphan designation for such treatments. The good news is that NICE has now also accepted a different approach is needed and is developing its Highly Specialised Technology (HST) process. HST has the potential to make a big difference but, as ever, the devil will be in the detail. So it is important that we get this detail right.
The very nature of rare diseases means that the voices of patients are often not heard. Yet hearing the views of the people affected will be critical to making the HST process work. NICE is planning a consultation on the methodology and the ABPI is working with Rare Disease UK and Cancer 52 to ensure that patient views are not only heard, but listened to.
If you are someone with a rare disease, then please do take a few minutes to complete this survey. Alternatively, if you are involved in caring for someone with a rare disease, then you can have your say here.