The 28th of February is Rare Disease Day.
It’s a day designed to raise awareness of lesser known diseases and conditions.
This is so important, not only so that the general public is just more aware of what our lives are like, living with our conditions, but so that we can fight for more funding and research.
Rare diseases often don’t have enough treatment options. Cures are a distant hope. Our conditions simply don’t get the the funding needed to push these things forward.
Many of us also encounter medical professionals who are even ignorant about our disease.
It’s all too common for us to meet a new doctor whose only experience with our condition is reading the name of it once in a textbook years ago. Or one that has a general understanding of what it is, but no actual idea of how to really treat you.
If they are a good doctor, and are understanding, they will let you explain your meds, treatment plan, and they will seek out advice from other doctors. If they aren’t, they might question your medications, refuse to listen to you when you ask for meds that you know work in a flare (often painkillers… This is a huge issue), and might not want to progress your case forward in a helpful way.
I’ve had both kinds of doctors.
Rare Disease Day is extra important to me because I have not one, but three rare diseases.
Klippel Feil Syndrome (KFS)
I found out that I have KFS when I was a preteen. I had always dealt with migraines and such, and my Mom’s chiropractor suggested that I get an x-ray.
It showed that my C3 and C4 vertebrae in my neck were fused together. This is a birth defect called KFS.
It can present like mine does, or have more vertebrae involved.
I have limited movement in my neck, and it is shorter than it probably should be. I’ve been told that my KFS is likely contributing to my neck pain, in addition to my disc issues. It probably is a factor in my migraines as well.
In the last year and a half, I have developed complex migraines called migraine with brainstem aura.
They cause my to lose my balance, and my ability to walk properly. My legs and lip go numb, and I have expressive aphasia. Expressive aphasia means that I struggle to get the right words out. I feel like I’m talking properly, but I say gibberish, or just the completely wrong word. It’s very frustrating.
These symptoms are all in addition to getting a terrible migraine as well, of course.
I’ve had issues with my stomach for years, but been very sick with gastroparesis for the last couple of years.
Gastroparesis means paralysed stomach. Your stomach stops working properly, and doesn’t move food on to the rest of your system. You can also have a slow digestive tract.
It happens for a variety of reasons, but in my case, we aren’t sure why I have it.
Having gastroparesis is like having a stomach bug constantly. You feel nauseated, vomit frequently, and have a loss of appetite. Additionally, I get very bloated, regurgitate a lot, and have issues with malnutrition and dehydration.
There are few treatments for those of us with gastroparesis, and sadly, some do die from it. That’s why it is so important for more research, as we need need to be doing more to give us a better quality of life, and protect the lives of those of us with this awful disease.
How you can help!
My hope is that this Rare Disease Day will help you become more aware of the many different, and lesser known conditions that are out there.
Please don’t just think about them today, but remember that we are fighting them all year around too!
Another amazing way to help out is to consider donating to a rare disease organisation. That way you can directly fund research, promote advocacy, and ensure the continuation of patient support work. I’ve included some links below.
At the end of the day, if you meet someone with a rare disease, be kind. You might not have heard of it, and it might not be the most glamorous illness, but a bit of kindness, understanding, and empathy is the best way you can help.
Links and Charities
There are many other charities for migraine, and for rare disease across various countries. I’d encourage you to seek out more, to read up on more conditions, and donate as you can.