The following story is part of an ongoing series celebrating Rare Disease Day 2022. For more information, click here.
People living with rare diseases often experience significant physical challenges, but the mental and emotional strain can be just as difficult. This Rare Disease Day, we encourage everyone to step into the shoes of a person living with a rare disease and think beyond just the physical challenges they may be facing.
Imagine this: You find yourself in the hospital after an unexpected ministroke at age 32. The doctor reveals that you have a rare blood disorder called thrombotic thrombocytopenic purpura, or TTP. There are some treatment options, but no cure. There is a congenital and immune-mediated version of the disease, but you learn you have the congenital disease and will live with this life-threatening rare disease, which is characterized by an increased number of blood clots in the smallest arteries throughout your body, for the rest of your life.1,2 The news is shocking and scary. In an instant, your whole life changes.
The hospital experience was traumatic enough; but now, as you return home and work on adapting to a new lifestyle, you find that no one really knows what you’re going through or how to help. Friends and family members mean well, but they don’t understand your condition, or even how to pronounce it, and you’ve never met anyone else with this condition. You’ve been started on a treatment path that includes regular plasma infusions. If you manage your disease, you have a good chance at survival. But it’s a lot of work and a lot of time, and it doesn’t seem fair. You feel angry, helpless and alone.1,2
A few years later, you wake up with a headache and joint pain—symptoms that are now familiar to you. You can tell it’s going to be a tough day. After your TTP diagnosis, you developed depression and anxiety, which make managing your condition even harder. Even though your body hurts and you’d rather stay in bed, you summon the strength to sign on for work. You don’t complain to your coworkers because you know they wouldn’t understand, or they might be judgmental. You tough it out, but you long for some relief.2
After work, you feel a tingling in your arm and your anxiety spikes. You think you might be having another ministroke. The feeling passes, but the anxiety lingers, making it impossible for you to enjoy the rest of your day or know if there is lasting damage.2
You wish you could talk to someone who understands what you’re going through, but TTP only affects about 3.7 out of a million people each year.1 The community is small, and the journey is isolating. Seeing friends and family helps, but the COVID-19 pandemic has made it especially hard to maintain those connections. You can’t even bring a loved one to your doctor’s appointments, and getting the medical care you need has been tough
through all the restrictions and lockdowns. You worry about your health falling through the cracks.
Good days and joyful moments punctuate the spans of frustration and pain. You find strength in new places, and your loved ones are there for you even if they don’t always understand what you’re going through. New treatments are being researched, and that gives you hope. But you live with a rare disease, and the psychological burden is just as devastating as the physical symptoms.
You know you can’t change your diagnosis, but you hope the people around you will take even just a moment to think about what it’s really like in your shoes—because some of your greatest struggles are the ones they can’t see.
When it comes to building a more hopeful and inclusive world for the rare disease community, clinical solutions are only half of the picture. Through empathy and understanding, we can all make a difference in the lives of those around us.