Rare Disease Day Facts

Every year on this last day of February we, in the rare disease world, celebrate Rare Disease Day. Why on the last Day of February, you ask? Because it is the rarest day of the year every four years, being Leap Day. And to those of us in this rare world we know how precious all things rare can really be.

In starting this new adventure, I went back to basics and looked at the definition of the word rare. Rare is an adjective meaning (an event, situation or condition) not occurring very often; (a thing) of interest or value due to the fact it is not found in large numbers; unusually good or remarkable. I found the last part of this definition interesting - while most of us would never choose to belong to this rare group, I think we would all agree that once we are here it is pretty remarkable to be part of. I have been known to use the hashtag #Igavebirthtomyhero for my rare son - a truly remarkable young man who has been through a lot.

In the United States a rare disease is defined as a disease, disorder or condition that affects less than 200,000. This definition is going to differ in different parts of the world based on the size of their population. For example in Europe a rare disease is defined as a life-threatening or chronically debilitating condition affecting less than 5 per 10,000 people. China defines it as having prevalence lower than 1 in 500,000 or 1 in 10,000 for neonatal patients. While in India it is just defined as a condition that affects a small number of people compared with other prevalent conditions in the general population (statistics from other countries from www.bluematterconsulting.com). In the United States, where I am based and where most of my information will come from there are over 7.000 known rare diseases.

Why do rare diseases matter? I mentioned above that a rare disease is one that affects less than 200,000 in the United States, but remember there are over 7,000 that have already been identified. It is estimated that the number of people living in the U.S. with a rare disease is between 25 and 30 million. That number translates to almost 1 in 10!! Some estimates say that nearly half of those with rare diseases are children, so now consider how many caregivers just in those cases are directly affected by rare disease. Prior to joining this rare disease community in 2015 - I thought it was rare, but the more I learn about it, the more I see the effects it has on so many people and the more I want to bring awareness and education to anyone and everyone that I can about rare diseases.

The symbol of rare diseases is the zebra. From the outside a zebra appears to be just like a horse, but with black and white stripes - and that is exactly the point. Horses are generally much more common than zebras, so if you were walking along a trail and saw hoof prints the first thought in your mind would be that a horse had crossed the path. You would walk along the path with that assumption, not ever giving thought to anything else walking along that path, no reason to think anything else....unless....In the rare disease world we find that medical professionals so often look at the horses when diagnosing medical conditions.

I had one doctor go so far with our oldest to say "we are throwing everything at him, but the kitchen sink and nothing is helping." We were at one of the best Children's hospitals in the country and they had exhausted all options for treating his asthma and his quality of life was horrible. I told them if they were not willing to look at throwing the kitchen sink or seeing what else it may be I needed to take him elsewhere. I searched for a doctor not closely affiliated with the large medical complexes of the area and very involved in research - he did extensive research and found my son's lungs were permanently damaged beyond asthma to a COPD-type illness. He worked to diagnosis and treat the zebra - no one else would look for the zebra, COPD in a 14 year old boy from a non-smoking home. We need to train the next generation of doctors that when someone does not "fit the mold" of the horse to look at the zebra. You cannot continue to try to heal the wrong diagnosis!

On this Rare Disease Day 2023, I ask that you share this post with someone rare and let them know that you care. Let them know that there are people out there that are fighting for them, that will help them find their voices or be their voice if they are not able to use their own, that are fighting for advocacy, awareness and education and will continue, not just on Rare Disease Day, but every day.