Today (29th February) is Rare Diseases Day, which aims to raise awareness of rare diseases to help grow funding and support for sufferers. Having personally lost a close family member who suffered from a rare disease, this topic is close to my heart.
Around 7% of the population are affected by rare diseases. Imagine 17 people in a room – at least one of these people will be affected by a rare disease; that’s equal to 3.5 million people in the UK! OnePoll carried out a survey of 2000 UK adults to find out how much the public understand about these diseases.
The facts vs awareness
So, what is a rare disease?
In the EU, a disease is classed as ‘rare’ when less than 1 in 2000 people suffer from it. There are approximately 6-8000 discovered rare diseases, including illnesses such as Motor Neurone disease, Cystic Fibrosis, and Cerebral Palsy. Around 80% of rare diseases are genetically derived.
But how many of these facts did the public know? The below stats demonstrate the extent of the lack of awareness surrounding these diseases:
- Two-thirds of UK adults aren’t aware of how many people are affected by rare diseases.
- 59% of UK adults believe that they must have even less than 1 in 2000 suffers to be classed as rare, with 1 in 5 people believing that a disease isn’t rare until it’s only seen in 1 in 100,000 people!
- Only 2% of the general population are aware of how many rare diseases have been discovered, with an average estimate of 2149 – a fraction of the true number.
- Respondents estimated that just 44% of rare diseases are genetic.
There is also a lack of knowledge on how rare diseases affect children. In reality, 3 in 4 rare diseases affect children, whereas the general public believe that just 40% do. Furthermore, only 1 in 10 UK adults are aware that 30% of children with rare diseases won’t survive past their 5th birthday.
Media coverage and funding
Perhaps the most shocking revelation from the survey was that 1 in 20 UK adults hadn’t heard of any rare diseases from the list of 30 available to them. This lack of knowledge was higher amongst male respondents, and adults aged 25-34. For example, only 60% of males had heard of sickle cell anaemia, compared to 78% of women.
There is a huge disparity in awareness between the diseases themselves. Some diseases are often better known due to a number of factors, including media coverage for charity campaigns, celebrity sufferers, and TV or film portrayals of the disease. The below table outlines some of the more well-known examples of this:
| Name of rare disease | % of people aware of the disease | Possible reasons for increased awareness |
| Cystic Fibrosis | 87% | Documentaries such as 65 red roses
Chopin is thought to have been a sufferer |
| Cerebral palsy | 87% | |
| Motor neurone disease | 84% | Professor Stephen Hawking is a sufferer, with ‘The Theory of Everything’, leading to a self-diagnosis.
The viral Ice bucket challenge (ALS is the same as MND) also raised awareness. |
| Spina Bifida | 78% | |
| Huntington’s disease | 72% | Josh Cook’s fight for the right to end his own life. |
| Elephantiasis | 44% | The elephant man |
The following rare diseases are largely unknown by the general public:
| Name of rare disease | % of people aware of the disease |
| 6p25 deletion | 1% |
| Campomelic syndrome | 1% |
| Aase syndrome | 1% |
| Caroli disease | 1% |
| Alstrom syndrome | 2% |
| Farber’s disease | 2% |
| Melioidosis | 2% |
| Gaucher’s disease | 3% |
| Achalasia | 3% |
| Lowe syndrome | 4% |
| Cockayne syndrome | 5% |
| Granulomatosis | 5% |
| Multiple endocrine neoplasia | 6% |
| Ehlers-Danlos syndrome | 7% |
Some of the possible reasons for the lack of awareness surrounding these diseases could include a lack of funding and fleeting media coverage. The lack of awareness also includes how much people know about treatments for rare diseases. In fact, almost 1 in 4 people weren’t aware that there is a lack of treatment for rare disease sufferers. The reality is that pharmaceutical companies are more likely to invest in developing drugs for common diseases. Orphan drugs are those that treat rare diseases, and these receive little financial incentive for pharmaceuticals. Shockingly, 86% of UK adults do not know what an orphan drug is.
As I mentioned earlier, many of the better known rare diseases have had extensive media coverage. This attention can be vital in raising awareness and funding for treatments. United Talent Agency CEO Jeremy Zimmer stated that “The entertainment industry can be helpful in getting [rare diseases] the attention and funds they need”.
Furthermore, when asked what percentage of rare diseases have an FDA (Food and Drug Administration) approved drug treatment, the general public’s average came out at 38%. In reality, around 95% of rare diseases have no FDA approved drug treatments according to the EveryLife Foundation.
Respondents affected by rare diseases
8% of participants stated that they themselves or someone in their immediate family is suffering from a rare disease, with almost 80 different rare diseases affecting these respondents. Surprisingly, most people who stated that they or an immediate family member have a rare disease were aged 18-24 (12%), with just 6% of over 55s saying they are affected.
The average time taken for rare disease sufferers to receive a conclusive diagnosis was 8 years, with 5% of sufferers still awaiting a diagnosis now. Diagnosis took longer for men, averaging 9 years, whereas the average diagnosis duration for women was 7 years. Encouragingly, 7 in 10 UK adults understand that delayed diagnoses often occur when exploring a rare disease.
Almost half of sufferers stated that they don’t think there is enough support available to them (47%). This increased to almost 3 in 5 when looking at responses from older generations. This support includes social networks. RareConnect is a social network available to those affected, which provides support and enables communication between fellow sufferers. However, only a quarter of people affected are aware that this site exists.
The lack of knowledge about these terrible conditions makes it promoting awareness days like Rare Diseases Day vital, in order to educate the public, raise funds, and provide support to rare disease sufferers. More information about rare diseases can be found at RareDiseasesday.co.uk or Raredisease.org.uk.
