TRANSCRIPT
One thing I'm often told by others is how strong I am and how well I handle my diagnosis of recurrent respiratory papillomatosis. But what they don't know is that I'm not strong. There are nights I lie awake, wondering if tomorrow is the day I find out I have cancer. The nights I lay awake because a young mom is called because her child had been diagnosed. So, I'm not strong, I'm not strong at all. I don't have a choice.
I was diagnosed when I was five, so this is all I know, which sometimes I think is good. But other times I think it's bad because I think I'll always wonder what if. What if I hadn’t had to worry about surgeries or my voice or the financial implications of what a rare disease brings. How would my life had been different?
So, just to let you know, I'm not strong.
Growing up, you're in the OR every week, every two weeks. So, at some point over my life, I stopped counting surgeries. I stopped counting at 250 because, to be honest with you, what was the point?
I did marry a wonderful man. We have great children, four grandchildren. And so for that part of my life, I am so grateful.
But, again, I think about what if. What if I hadn't had this disease and I'd been able to read my child a book at night? Something other parents take for granted I couldn't do. What if I didn't have a trach and I could have gone swimming with my child? Something I couldn't do. Or simply ride a water ride at the park. Things that, if I did and something went wrong, I could quite possibly die.
I think about what if I'd never had a pharyngeal tear during a surgery, which almost cost me my life? And my children have the memory of me at home unable to get out of a recliner because of the pain. So I think, for so many of us in the rare disease space, there's a lot of what ifs.
When I talk to others and you say the word ‘surgery’, and you think, “Oh, I know someone who’s had surgery.” But imagine those emotions you had when someone you cared about had surgery, when you had to watch them being wheeled out. You had to watch the patient board in the waiting room waiting for them to pop up is complete, waiting for them to get out of recovery, watching that person at home as they recover from the impact of anesthesia, surgical discomfort, all of it.
The anxiety that creeps up as you're preparing yourself or a loved one for surgery, multiply that times 250, and that's my story.
I've been on a cancer drug now coming up almost seven years to try to control the disease. It's off‑label so I never know if insurance is going to pay, not pay. So there's that stress as well. But it has kept me stable.
A really neat thing happened when I had surgery almost six years ago. This voice came out. But what you don't know is for over 20 years before that, my voice was a barely audible whisper. My son, who's now 30, had never heard me with a voice. So that's the impact of surgery on my life.
I remember the day that I found the foundation and I realized I wasn't alone. There's something so healing in that moment when you hear someone that sounds like you. I like to think that that's what the foundation does for patients to this day.
I was asked to take over the foundation coming up on four years, but there was a reason why I said yes. When this voice came out, I said, “God, as long as I have this voice, use it.” Be careful what you ask God for, because He has put me in something that I was not qualified for, but He somehow, in the way He does, has qualified me for it.
When we were selected as a CZI grantee in the Rare As One Network, I was probably in disbelief for weeks. But I can look back and all the success we're having now, all goes back to that yes , thinking that we were able to get in front of the FDA and change their mind on the end points that matter to patients.
We were able to be part of two biotechs that are now in the BLA submission process for potential therapeutic treatments, so that my goal that surgery will no longer be the treatment for this disease. We are almost there.
Because when I think about the whys what I do, it all goes back to Eden, a little girl with the disease and the promise I made myself and her mom that, as long as I'm leading this, I'm going to do everything in my power to make sure Eden and the other children like her do not have my story in my age. Their story isn't about surgery, the PTSD caused by the surgery, the financial instability as a young married family that this disease caused. I don't want my story to repeat itself.
And part of what we've done as an organization is realize that there was no one coming on a white horse to save us. We were going to have to do it ourselves. So if that's hosting a roundtable where we bring together the world's best in RRP care and research, if it's, for all purposes, basically stalking people on LinkedIn to get them to hear our story, to using whatever methods that are available to us that are legal to get our message out there.
Just this past winter, I was invited to speak at the White House for Rare Disease Day. I'm sitting there in this room of the greats in rare disease. I'm looking around at these people that I've looked up to for years, and to be at the table with them was such an encouragement to me to know that we have hope. The hope that my parents were given 52 years ago is real now, and it's because of the patient voice.
And when you see me, I hope you don't just see my story. I hope you see the story of all of our warriors, each of us that goes into the OR, each of us that, at some point along the way, has asked our parents, “Why did I get this and my siblings didn't?” Or the days we question why surgery was allowed to be the only treatment for so long, why that was okay.
I guess if nothing else comes from this, is to bring the message that your voice has power. Even if you feel very unqualified, this community will come up beside you and they will make sure you know what you're doing.
I think that's what makes the rare community so special is we're not in competition with one another. It truly is how can I help you reach that goal, the sharing of information.
The similarities of the patient stories will always amaze me, but I hope I never lose the sense of wonder and what one voice can do for an entire disease community.