Around three million people in the UK live with rare diseases – that is, diseases that individually affect less than one in 2,000 people. These afflictions are often poorly understood, and as a result of this, patients can experience a host of additional problems on top of the symptoms caused by the diseases themselves. Awareness of the problems that are likely to crop up can at least help newly diagnosed patients to prepare themselves for what lies ahead.
Poor GP Awareness
Many people with rare diseases say that they spent years being dismissed as hypochondriacs before eventually receiving a diagnosis. Afterwards, their situations didn’t necessarily improve very much. GPs can’t be experts in everything, and few such patients are lucky enough to have doctors who know their conditions in depth from the outset. If you’re in this situation, you’ll probably find yourself referred to a consultant who can make sure you’re getting the right medication and point you to support services, but you’ll need to develop a good understanding of your own health issues if you are to get what you need from your GP in terms of ongoing help.
Slow Emergence of New Treatments
While it might be difficult to live with a well-known disease like Type 2 diabetes, you at least have the reassurance that there are lots of people out there working on a cure. With a rare disease, this is not normally the case, and your best hope of future treatments may come from treatments developed for other diseases that happen to help with aspects of yours. The good news is that in China clinical research into rare diseases is now being treated as a priority, and with a population of 1.4bn, the country has much larger groups of volunteers available to participate in clinical trials.
Not Being Taken Seriously
Being ill is difficult enough without people refusing to believe that your symptoms are real, and with some rare diseases, this goes much further than hurting a patient’s dignity. Being disbelieved can make it difficult to access mobility aids, get appropriate support at work or even access state benefits needed to make ends meet. You might find that some friends and family members refuse to make the adjustments you need in day-to-day life, or even that healthcare professionals ignore some of your needs.
When living with a rare disease, it’s difficult to find other people who really understand what you’re going through and can be there to listen when you need to let off steam. It’s particularly hard to find local support if you live in a rural area. The good news is that the internet is making this easier by helping people connect with others around the world who are experiencing similar problems. Because this often includes people being treated under different healthcare systems, it can also be a good way to find out about new treatments that may be worth trying
Living with a rare disease presents a lot of challenges, but the better you understand your situation, the better placed you’ll be to overcome them.