For as much attention as major diseases get in the world, there are millions of children suffering from rare diseases that the majority don’t even know about. Children like Joey Tanella and young James. Joey was diagnosed with galactosemia at just two days old. This condition – which affects only 1 in 50,000 children – causes the body to be unable to process the sugar galactose. This sugar is present in a range of foods, including every dairy product, and the only way for young Joey to survive is to avoid those foods.
James has a rare genetic disorder of his CNTAP1 gene, which prevents his brain from communicating with his muscles. His vocal chords are paralyzed, he barely has any muscle density, he eats through a gastronomy tube and breathes through a tracheostomy tube. He’s already outliving the usual life expectancy for children with this condition and he’s just one year old. These are only two of the millions of cases of children with rare diseases that disappear under the radar. Rare Disease Day was set up to help these children, and anyone else with a rare disease.
What is a Rare Disease?
The definition of a rare disease varies between Europe and the United States. In Europe, a disease is considered rare if it affects less than 1 in 2,000 people, while in the US it’s less than 1 in 200,000 people at any given time. One rare disease in Europe could affect just a couple of people, while one in America could affect hundreds of thousands of people. There are over 30 million people affected by one of over 6,000 classified rare diseases in the EU alone.
The people affected by these disease face several problems. The biggest problem is the lack of knowledge and information on these diseases, which can mean it takes time for a proper diagnosis. The need for the right healthcare leads to inequalities and trouble accessing treatment and care, which places a heavy social and financial burden on patients – particularly those who are unable to afford the treatments.
There is a need for research on a worldwide scale to ensure that the best researchers, experts, and clinicians are connected and working together. It is up to everyone to pool their resources and help together. There are several initiatives that work with rare diseases, including the European Reference Networks, the International Rare Disease Research Consortium, and the Framework Programme for Research and Innovation Horizon 2020.
What is Rare Disease Day?
Rare Disease Day is held on the last day of February. The aim of the day is to raise awareness of these diseases and teach the general public and key decision makers about the plight of people who suffer from rare diseases.
It is important to build awareness like this as around 1 in 20 people live with some form of rare disease at some point in life. Even so, there are no cures for the vast majority of those rare diseases, many of which will never even be diagnosed. Rare Disease Day builds awareness and knowledge among the general public and encourages researchers and policymakers around the world to address the problems faced by those with rare diseases.
How to Get Involved
There are plenty of ways to get involved with Rare Disease Day. There are many events held around the world to raise awareness, including events held by patient organizations and individuals. You can host your own event or find one near you to take part in. There are also several conferences and other fundraisers happening right now that could use your help.
Even if you can’t join or host an event, there are other ways to help out. Rare Disease Day showcases three testimonial videos about those with rare diseases and what life is like for them. Watch these videos and share them to build awareness. These videos are available in over 30 languages too, showcasing how this is a global effort.
The slogan for Rare Disease Day this year is “Show Your Rare, Show You Care”. Get involved with the #ShowYourRare hashtag on social media and spread awareness about rare disease, those who live with them, and what can be done about them!