The CAFE team and our networks are pleased to be celebrating Rare Disease Day, highlighting the experiences of over 300 million people across the globe who have a rare disease.

Diseases that affect fewer than 1 in 2000 people are classed as 'rare'. Some of these diseases can be so rare that doctors may only encounter one person with it in their lifetime. 

Rare Disease Awareness Day occurs annually on the last day of February, which every four years is on 29th February – the rarest day of the year, appropriately. This means that, during this leap year, we have a unique opportunity to raise wider awareness.

There are over 7000 diseases that are classed as rare. Some are more widely known, such as cystic fibrosis, while others are less known, like cat eye syndrome. Many types of cancer are also classed as rare diseases, affecting less than 1 in 2000 people. There are neurological, neuromuscular, metabolic, bone and skeletal diseases; some even affecting the heart, blood, lungs, kidneys and other organs.

Many of these rare diseases have very common symptoms, that can make it harder to not only identify the issue, but moving further beyond common causes or diseases to get to the exact diagnosis.

72% of rare diseases are genetic, and 70% begin in childhood. 

In addition to the symptoms that come with health issues already, rare diseases come with their own unique set of barriers and considerations. The most significant would be the lack of scientific knowledge and credible, quality information on any disease regarded as rare. As some diseases are so rare, there is often not much information already available or published.

In fact, studies have shown that doctors are often taught to first consider a common diagnosis and not a rare one. One study in Poland noted that most physicians “lacked basic knowledge” of rare diseases and had “problems with separating [rare diseases] from common disorders.” 

Another study in Bulgaria found that out of 1189 medical students surveyed, only 13% of participants knew the correct definition of rare diseases.

This affects more than one area in the steps to receiving the correct information and care. For example, according to the Rare Disease Day website, receiving a diagnosis in the first place can be further delayed due to lack of information connecting symptoms with cause. If not a delay, misdiagnosis is also extremely common, which can lead to another delay as well as potential false starts with medication or treatments.

It is important to also note that due to so many rare diseases being genetic and present from birth, it is more likely for those people to have reduced mortality rates. This means that specialised care, timely diagnosis and treatment, and screening available for newborns is so vital.

Another challenge can be the loneliness that many people with rare diseases may feel. The importance of finding support groups can often be stressed to them, but again, delays or misdiagnosis can lead to not finding those who have the same symptoms or disease itself. With some diseases being so rare, some people may never find others sharing their experiences or be around people in real life or often enough to get adequate support.

While lack of public, published information can be frustrating, there are routes that can be taken to find what is available and can be trusted. It is recommended to look for peer reviewed literature, meaning that the research has been looked at by numerous experts and checked to confirm that the information is again impartial, evidence-based and up to date.

In the UK, an organisation called Genetic Alliance UK, combines 180 patient organisations that are often specific to each condition and can direct people towards support groups.

Keeping these elements in mind can make it easier to find the most helpful information.

Ahead of Rare Disease Day, CAFE spoke with a number of football fans with rare diseases about their experiences. We look forward to publishing their stories in the coming days.

CAFE Operations Manager Michael Rice said, "29 February provides us with a rare opportunity to shine a spotlight on this important and often overlooked topic. There is no 'one size fits all' solution to implementing accessibility improvements, and we encourage stakeholders across the sports industry to consider many differently disabled people and their unique access requirements in their strategic planning".

"We know first hand that sport has an incredible power to bring about inclusion and create memories to last a lifetime, and this opportunity must be open to all. Within our own organisation, we have colleagues and friends with rare diseases and we are constantly looking to improve our own understanding. Over the next weeks and months, we will be liaising with partner organisations working across many rare diseases to ensure that our works, including our industry-leading access appraisal programme, offer the best possible support to over 300 million people worldwide with a rare disease", added Michael.

To find out more about rare diseases, please visit the Rare Disease Day website.

Read Ralph Franken's story - "A day without football is a day not lived"

Published 29/2/2024