Rare Disease Day 2023
I'd like to start by saying a huge thank you to everyone for your support and love after my recent surgery, it truly means so, so much.
As it's Rare Disease Day once again, I want to share my experience in the hope that it helps someone out there to not only understand what it's like to live with a rare disorder, but also to feel a little less alone. So, let's get down to it.
For those of you who don't already know, I was born with a Dandy-Walker malformation and an atrioventricular septal defect specifically known as Tetralogy of Fallot. ToF is characterized by four defects, and according to my current surgeon, my case isn’t textbook. God's plan was to make me as unique as possible!
I had corrective surgery at just 5 weeks old, and my second repair in October 2022. I’ll need further surgeries in the future.
While ToF is one of the more commonly known conditions, DWS is largely unrecognized. Even the specialists I’m under don’t know everything about DWS. That’s the trouble with a disorder with so many variants.
According to statistics from the Dandy-Walker Alliance, 1 in 10,000 children are born with DWS. It’s also more likely to affect women than men. Some people don't live past the age of 40.
My malformation and co-existing symptoms are milder than they could have been. I’m one of the lucky ones who won’t need a hydrocephalic shunt, or end up in a wheelchair, but for some, that’s the reality of living with DWS.
The defining trait of Dandy-Walker Syndrome is an abnormality of the cerebellum, forming a cyst at the base of the skull, and complete absence of the cerebellar vermis. In severe cases, increased cerebral fluid is present. Children born with DWS will have delayed development and poor motor control. My hands mirror each of their movements, and I occasionally experience myoclonic jerks.
Another side effect of DWS is epilepsy. I've had a lifetime of headaches, dizziness and seizures. There are 41 different types of seizure, and I can experience any one of them at any given time. So in short, it's sometimes a real chore to get through the day! But in spite of it all, I've managed to live a reasonably normal life.
I turn 30 this year, and I've been thinking a lot more about my future goals, because as I'm sure you know, women face a lot of pressure to have their shit together by the time they turn the big 3-0. I’m a woman who would love to have children, but know that because of my health, it might never happen. Or if it does happen, there’s a significant chance my child could end up with all the same health complications I have. I can’t count the times I’ve kept myself awake at night, sometimes even cried because of it. Sometimes it’s scary having to admit and accept that. However, I'm a big believer in the old adage 'where there's a will, there's a way'. It's gotten me this far, and I don't intend to let anything stop me from living the life I deserve.
If you're reading this and you have a rare chronic illness or disability - or any disorder - I hope you take a little time today to remind yourself of how unique and wonderful you are. Take pride in being perfectly imperfect.
You are seen, you are loved, and you are stronger than you believe.
