Every year, Rare Disease Day is celebrated on the last day of February, meaning that this year, it is landing on February 29th. This significant day only happens every four years, which I find very fitting. You can’t deny that a rare day for a rare disease is a match made in heaven! But are rare diseases really as rare as we think they are? And what is it really like to live with a rare disease?
The purpose of Rare Disease Day is to bring awareness to the many diseases that are unknown to most, causing these diseases to be under-researched, hard to diagnose, and in most cases, untreatable. In America, a rare disease is defined as any disease that affects less than 200,000 people. Researchers believe that there are as many as 7,000 rare diseases with over 70% having a genetic cause. There are over 25 million people in the US alone that have a rare disease and over 300 million people (4% of the population) globally that are affected. Of the rare disease population, 80% have one of only 150 rare diseases- all which are not being adequately researched. It's far too common for people with rare diseases to have not had their disease properly documented since many countries do not have national disease registries (the US included). Because of that reason, researchers believed that the number of people with rare diseases is actually much higher. Lucky for the rare disease community, there is a consortium of over 40 countries sharing data on rare diseases in hopes of advancing treatments and improving diagnostics.
But unfortunately, most rare diseases still have no available treatment options due to the fact that pharmaceutical companies tend to focus their research on common diseases that will be much more profitable for them. By not funding rare disease research and drug development, the pharmaceutical industry is saying that the lives of over 300 million people don’t matter to them. I take that personally as someone with a rare disease. Sadly, my life is of lesser value to them because of one factor alone- I’m rare.
Rare Disease Day is very close to my heart because I live with a rare disease called Mitochondrial Disease- a progressive disease with no effective treatment or cure. Although there are an estimated 40,000 people in the US alone with Mitochondrial Disease, there are hundreds of different types. There are over 350 different types of Mitochondrial Diseases with a known genetic cause, which only accounts for 40% of Mitochondrial Diseases. The rest of our community has been diagnosed through a combination of medical tests, but is still searching for a genetic cause.
Having a rare disease is hard- sometimes it even feels impossible. At times, you feel completely alone. Some days, you feel like the world doesn’t give a damn about your disease- the disease you suffer from every second of the day with no escape. We don’t have entire hospital wings dedicated to our disease and we don’t see national TV commercials promoting awareness or raising funds. Many times, we struggle to even find support because it's hard to care about a disease you have never heard of and know nothing about.
Having a rare disease means watching some of your friends die from the same disease you have, and knowing that can easily be you, and that one day, it will most likely be. And because you are rare, you don’t feel hopeful about future treatments because there isn’t much research going on.
Being rare means even though you have been diagnosed for years, people will still constantly say “They don’t know what's wrong with you yet?” just because they haven’t heard of your diagnosis, despite the fact that you have told them many times. Being rare means people always say “You still aren’t better yet?” even though you have explained countless times that you will never get better. Being rare means people just assume that because they have never heard of your disease, that it must not be serious even though that couldn’t be any farther from the truth.
When you have a rare disease, finding doctors that can actually help you seems impossible. You are constantly being told that they know practically nothing about your disease and to try a different hospital, even though you have already tried multiple different ones. When you are rare, you are constantly being told by nurses and other medical professionals that they have never even heard of your disease, and let's be honest, it's hard to trust someone to care for you when they know literally nothing about what you are experiencing. Being rare means quickly realizing that the pharmaceutical companies, insurance companies, and our lawmakers get to choose who suffers, who lives, and whose life has value to them.
Still, I'm proud to be rare. Being rare has molded me into a more compassionate and empathetic person. It's taught me to advocate for myself and for those unable to do the same. It’s given me the confidence and ability to sit down with lawmakers and share my experience with them- It's given me the power to make them want to change healthcare policy to better suit the rare disease community. Being rare has taught me that not only can I endure more than I ever thought possible, but I can persevere and fight like the true genetic badass I am! Being rare has taught me that labels don’t define my worth and that I am worthy of living an amazing life, no matter what life throws in my direction. Having a rare disease has lit a fire inside me because I know that change needs to happen and I’m not willing to wait around hoping that someone else will step up.
If you are rare, please know that I am proud of you. You have endured more than what most people ever will, and by living your life, you are choosing to be the true genetic badass you are. You are choosing to overcome something so incredibly difficult and that is something to be proud of. Shout out to all 300 million rare disease warriors all around the world- you are doing an amazing job! And RIP to all we have lost to rare diseases. You deserved better and I hope you know that by being a light in a world that has too much darkness in it, you didn’t let your disease win. Your fight was an incredible one and that is something to be proud of.
Shortened version published at https://www.readunwritten.com/2020/02/28/proud-why-celebrate-rare-disease-day/