According to a story from Raconteur, as many as 3.5 million people living in the UK are expected to affected by some type of rare disease at some point during their lives. This is similar to the number of people that will be affected by diabetes, but the experiences of rare disease patients and diabetes patients are unlikely to be the same.
Lack of Awareness
This is primarily because of disparities in disease awareness. Most people understand what diabetes is but the majority of rare diseases remain relatively unknown among the general public, and even doctors are lacking in awareness. The UK’s NHS has a clear cut program for treating diabetes, but the situation for rare diseases is not remotely comparable. Rare disease patients may face on average three different misdiagnoses and an average of four years before the accurate diagnosis is first made.
Accessing Treatment
But even when the right diagnosis is made, patients may struggle to get access to the care that they need. Part of the reason is because many orphan drugs (drugs that are intended for addressing rare diseases) are expensive and can cause regulators such as the country’s National Institute for Health & Care Excellence (NICE) to hesitate to approve coverage. An example of this is the drug Orkambi, which is used to treat the rare disease cystic fibrosis. This drug is currently not available on the NHS because of its extremely high price. Basically, NICE has determined (at least for now) that it just isn’t worth the money.
It is hard to believe that NICE would have such misgivings if the drug was for a more widely spread disease. Thankfully, there are plans to improve the approval process for rare disease treatments. as more drugs with high price tags are likely on the way with advent of personalized medicine. An example is the Highly Specialised Technology evaluation, which has been a critical tool for negotiating pricing deals with the companies that produce rare disease treatments. Still, not all rare diseases qualify.
When put through the standard evaluation, the chances of a pricey rare disease drug getting approved go down. However, the NHS has announced plans to fast track drugs that target the genetic composition of cancer tumors, and further plans and new frameworks should help get rare disease drugs on the NHS easier.
