Good morning and thank you.
As Professor Brudno said, I went 32 years without a diagnosis. Throughout the time I was sick, I had arthritis, headaches, full body rash, fevers and a generally low sense of self-worth, to be honest. I went to my doctor's office—my family doctor—about 200 times before I was 18 years old. I went to see over 30 specialists, had countless ER visits and tons of tests. The answer was always, “We don't know. Try these drugs and we'll see if we can treat your symptoms and let you live.”
Everything changed in 2012 when my daughter was born, because she was born sick as well. We ended up at SickKids and we got genetic testing. It turns out that we have a one-in-a-million disease called Muckle-Wells syndrome. It's caused by a single gene mutation.
That allowed us to get access to medicine, and the medicine, like a light switch, turned off all the symptoms overnight. There has been no looking back—32 years of struggle disappeared like it never happened—so I get to live the rest of my life disease-free. My daughter was only one then. She's six now. The only way she knows she's sick is that a nurse comes to our house every eight weeks and gives her a needle. Otherwise, it's smooth sailing.
Diagnostics, genetics, it's amazing, life changing. It's sad to think that we're the lucky ones now. Hopefully, that isn't the case going forward.
Thank you.