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Diagnosis Day: The Two Year Anniversary
It doesn't get any easier
by Jo Kaur, Founder, Riaan Research Initiative
(March 12, 2023) - Whoever said it gets easier hasn’t been in our shoes. I wish I could tell you that it does but I’m too busy managing the symptoms of my body breaking down, as it inevitably does around Riaan’s diagnosis day. D-day is upon us, the second anniversary. How can we be here, again?
I don’t want to write about the pain. I don’t want to reflect. I don’t want to think. I don’t want to feel. I want to focus on something else, something trivial and mundane. I want to hide under the covers, cuddling with my children, drinking steaming hot cups of chai. Recently, I saw a documentary about the disappearance of Malaysian Airlines Flight 370, the plane that has yet to be found. This topic is neither trivial or mundane, but I want to spend my time googling, learning more, and what, sleuthing? Do I think I’m the Nancy Drew this tragic mystery has been waiting for?
Well anything to not think about today. March 12th. The day we just try to survive, trying to make it to 12:00 am, March 13th. Squinting at the clock though, I can barely make it out. When Riaan was first diagnosed, on March 12, 2021, my eyesight temporarily changed. The world literally became dimmer, as if someone had decreased the brightness on a smartphone screen. This persisted for weeks before eventually going away. Every year on the anniversary this strange symptom returns. Everything is dim, and less sharp. I feel like I’m underwater, and viewing the world through a fuzzy, muted, cloudy lens (It almost reminds me of the cataracts so many of our children get.). I’m desperate to swim to the surface and open my lungs, and just breathe. But no air is available for me, no oxygen awaits to infuse calmness back into my veins. My pulse has been extraordinarily high in recent days, my blood pressure through the roof, my head throbbing with a pain that Tylenol cannot control. I can hear my heart racing, I can feel it. I try to breathe, I try to relax. It doesn’t work. I can’t stop the panic.
Back to that airliner. How did it disappear? Why has it been nine years and we still don’t know what happened? Those poor families who lost their loved ones. So much loss, so much pain. They may never know what happened. Is it better to know? Is it better to see the last moments of our loved ones, even if they’re suffering? Be still, I tell my racing mind. Just breathe.
This week, I’m heading up to the University of Massachusetts Chan Medical School to speak on a panel about rare disease. The audience will be reporters from a variety of mainstream outlets, from The Wall Street Journal to The Boston Globe. I’ll have an opportunity to share our story, Riaan’s story, and why we launched Riaan Research Initiative. I’m grateful for this chance and thinking very deeply about how to convey and share our story effectively, how to get it all out in the time I have been allotted. Sometimes, when I share, I fear I sound too clinical, which is also a trauma response. As if I’m a detached doctor, sharing details from a completely “neutral” position. Other times I feel I release a tsunami of pain, more so than the listener is prepared for, drowning out any chance I can of getting my message across.
How to find the perfect medium? How to explain to you, that we’re just like you? That what happened to Riaan could happen to anyone? That we need to do so much more to treat these horrible diseases, that indeed there are viable solutions out there, and hey, look, we’re working on it.
We’re making progress. Things are happening! The support of our donors is leading us down a road of exciting, incredible discovery, monumental change, and actual, raw hope. And while we have a long way to go, we’re still going strong. This is the power and love of community - of people like you - who are holding us up and carrying us to the finish line. I hope, I hope, I can convey all this, to this room full of journalists.
And of course, the most important thing. To humanize our children, to humanize my Riaan, to showcase their power, beauty, love, wisdom, sense of humor, and brilliance. Will they understand that our children are more than Cockayne syndrome? That this journey began with Riaan, and along the way, we have been fortunate to get to know so many other children with this horrible disease, beautiful children who deserve every bit of hope and opportunity this work we do has to offer? That we seek to fight for all of them?
Will I be able to convey to them that our families may experience different challenges than most, yet our love, our dreams, our hopes still look like theirs? Even against all odds?
This past week, Riaan began pre-school. It was an emotional and exciting time for us, like every other parent. However, on top of the usual concerns, we have heightened worries about infections, given his medical condition, and an urgent desire to ensure he has fun at all times. Riaan had moments of joy but overall, he’s not loving it (yet). He cries and cries, and cries. It’s getting a bit better though, the teachers tell me.
He also had his first day alone at school - without me - and when I picked him up, he was so excited to see me he practically leapt into my arms and gave me the tightest hug. While driving, I asked him the question I have seen so many parents in real life and on television ask their children: “Soooo, how was school?!”
He didn’t answer. He’ll never answer. He’ll never be able to tell me.
Clutching the steering wheel, I cried. I want to know about his day from his perspective: I don’t want to miss a moment, the good nor the bad. And since our time together may be limited if we don’t get treatments developed, the opportunities to bond and create memories are more precious than ever.
I feel a heavy responsibility. There’s so much to explain, so much to share, and so many different ways to do it. Do they understand how awful it is to think that while your child may begin pre-school, they may never get to kindergarten? That many other children with Cockayne syndrome will never make it to their high school graduation?
Ultimately though, the work of patient advocacy in rare disease is a sacred task. If we don’t properly share our children’s stories with the world, who will care? Who will want to treat their disease? Who will want to support the research? It’s on us, to advocate, and to get the point across. To make it last, to make it stick, to make an impression.
Look at their beautiful faces.
Don’t forget them.
Don’t forget us.
It’s been two years.
We’re still here. We’re still fighting. We’re moving mountains, haven’t you heard the rumbles, the earth shake?
And yes, it’s hard, but we’re not going to stop. For Riaan, for other babies.
I love you, my Riaan. And even though March 12th is excruciating, I pray we get a hundred more - together, as a family. Can you imagine, my love? I think I just felt the earth roar.
Give a gift of hope on Riaan’s Diagnosis Day. To make a donation to Riaan Research Initiative and support groundbreaking research to get treatments developed for Cockayne syndrome, please visit our website. We can’t do it without you!
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