When you leave your house today, as you go to work or the shops, look around. 1 in 17 people could, at some point, be affected by a rare disease. In Europe that’s defined as one that affects fewer than 1 in 2000 people.
So how do you spot someone with a rare disease? The man jogging past you may need to take daily medications due to Addison Disease; Charcot-Marie-Tooth disease might be the reason that lady is taking a rest on the bench; the child over there may be behaving ‘strangely’ because of his Tuberous Sclerosis. You may even see someone with 3-hydroxy-3-methylglutarylCoA synthase deficiency, though that’s unlikely as there are only 9 reported cases.
The point is that even though some of them are vanishingly rare, rare diseases added up together are more common than you think. But also they are not always easy to spot, unless there are obvious facial features or mobility aids. At some point it could be you, or a friend or a loved one who gets hit with a bewildering diagnosis.
Two years ago I had no idea about World Rare Disease Day. Nowadays though my Facebook feed is pretty different than it used to be; it is populated with pictures of other boys who also have MPS II (Hunter Syndrome), boys who look just like my Pudding. You see, when your child has a rare disease and you find your community, suddenly it doesn’t feel quite as rare. And on this day, we join together to shout a bit louder and raise awareness of these conditions that have limited patient groups and therefore limited understanding and treatments for them.
And today I celebrate rare. Yes, rare can still mean isolation and struggle and difficult times, but to me it also means this gorgeous smile which certainly isn’t rare in our household.
So today, take a few moments to think of us, share this post and show that you too Care about Rare.