The Echo That We Create

In this cycle of life and grief

by Jo Kaur, Founder of Riaan Research Initiative

(November 25, 2024) - Make it stop. It hurts so bad, I pleaded with my husband. He looked at me, pools of water filling his eyes, his face pained. He shook his head, ever so slightly, both of us struggling to breathe.

Riaan, at the park with his dad

I understood. There was nothing he could do, there was nothing any of us could do. No one could stop the pain, of learning that our firstborn child, our beautiful Riaan, had a devastating disease that no one had ever heard of, that his life expectancy was potentially five years-old.

I remember asking the doctor: Five?! Are you sure?

That’s the median age for children with his severity level, the geneticist said. And we think he’s severe. I’m sorry.

There is this show I really like where the main characters lost their four year-old son. It can be hard to watch but it moves me in profound ways. The father, describing his pain to his bereaved wife, said something like this:

When my dad died, I learned a trick to deal with the waves of pain that would come. Because you see, the pain, it always came in waves, and they would always pass. So I started counting until it passed. Sometimes I’d only have to count until 5 or 10, and one time it was all the way to 3000. But when our son died, that trick didn’t work. I’d try to count, but I’d get confused. I couldn’t remember to say the numbers in order, I couldn’t keep track, I couldn’t even speak. The darkness came fast, and I couldn’t get on top of it, I couldn’t ride it out. The only bright light I had, the only small flicker of light to see my way through, was you.

The other day, on our way back from a drive-through holiday light show, my husband Richie echoed these sentiments.

He’d lost his mother earlier this year. That was a precursor to what we’ll experience if we lose Riaan, he whispered to me. You’ve never experienced anything like this, I don’t think you’ll be able to handle it. Our lives will be over.

I’ve tried many tricks to deal with the waves of pain since Riaan was diagnosed with this fatal disease, especially in those early days and months. The only one that works without fail is hugging and holding him, feeling his heart beat against mine. I jump hard into being a mother, into loving both of my boys, Riaan and his little brother, Jivan. He’s here with us now, and we’re very lucky. So I hug him, hold him, laugh with him, love him, and continue about our day. The other trick that works is diving into the research and the science, knowing that thanks to our amazing supporters, we are creating a pathway for hope, and possibly so much more.

As a family, we work together to push the bad things away, the darkness away. It’s gone now, we say, when the wave passes, and we breathe a sigh of relief. Maybe it was never real.

Oh but it is.

Riaan turns 5 in December. On December 12th.

I don’t know how to describe how I feel.

The other day, we had a pleasantly warmer morning despite this November cold that has descended upon us. His physical therapist and I agreed it might be nice to walk outside with Riaan. We’d never done that before. She put on his ankle-foot orthotics, and boots, and carried him across the courtyard. She had him practice standing for a few seconds, and then with her hands under his arms, he walked the long distance across the courtyard, taking great big steps on his own. He did four or five laps, happy as could be. Each time, I stood in the doorway, filming him, grinning from ear to ear, my eyes overflowing with joy. That burst of pride was so powerful, I felt like the giddiest parent at their child’s high school graduation. Riaan could have discovered time travel and I wouldn’t have felt more proud than I did in that moment seeing him strut across the yard. My heart was dancing. This is my Riaan, my legacy.

That whole day, I couldn’t stop telling everyone I knew about what he’d done. I was so impressed. I’m always so impressed with him.

How is he almost 5? How much time do we have left together?

We understand now that Cockayne syndrome is more of a spectrum, and that there is no strict idea of what his life expectancy may be. For now, Riaan continues to progress in his skills although he faces daily struggles with eating, acid reflux, and constipation. But for the most part, he is a happy and bright child, always radiant and full of laughter. We hope for his continued progression while the Cockayne syndrome gene therapy is being developed by the most dedicated team of scientists and researchers we’ve been fortunate to meet. The miracle that is being created, that we hope and pray will help Riaan and other children with this cruel disease.

Recently, a friend whose nearly 6 year-old son died almost a year ago was telling me her story of grief attending an event for bereaved parents. With her permission, I shared her captivating and devastating words with another dear friend who had lost her husband to cancer two years ago, and she said:

We have to keep sharing these stories. There is great power in us collectively trying to process our grief.

Yesterday was a harder day. We learned that a cherished and beloved child in the CS community is now in hospice care. We are praying for her, for her family, during this time of unimaginable grief and tragedy. No one should ever have to experience such pain.

But that’s not the world we live in.

I spent the day crying, clutching Riaan, trying again to push the darkness away.

We’re not ready. None of us are ready for that path. It’s not the natural way of things. Who can be ok after this?

I spoke to other mothers who are also heartbroken by the news from this fellow family, all of us grieving. None of us have met this family in person but we care for them deeply, even from afar. We’re connected, we impact each other. Anytime we receive news about the health of a child in our community, it affects us all, far and near, of that I have no doubt. Every gesture, every act of kindness and love for each other in these moments, is so critical.

Before Riaan was diagnosed, I never knew anyone personally who had lost a child. Now I know so many.

I was talking to another parent whose child was just diagnosed with Cockayne syndrome. He had very thoughtful, deep, and inquisitive questions as he tried to make sense of his new world. I remember telling him that there is this weird silver lining of liberation. You care less about the things you worried about before. You notice and feel less about the drama of life, and sometimes you feel invincible. The other night, during a long walk, I didn’t even notice that it was raining, and that my exposed hands were frozen. I didn’t even feel it. Once I did though, I felt like a fool. I have to take care of myself. My kids need me. I can’t protect them if I don’t take care of myself. Still, that feeling of momentary liberation which comes and goes is enticing.

Growing up, I thought my life would be “by the book successful.” Instead, I feel humbled and strange. Lucky and heartbroken. Reflective but daring.

I feel fully present, and the future is unimportant.

It’s interesting to think about.

As for us, Riaan and Jivan, we have this little island of joy now where we are safe and happy. But the outside world threatens, poking, prodding, sending waves of reminders that none of this is eternal.

Riaan, ever radiant

Briefly, when young, while working a job I didn’t like, I would count down the hours. To the end of the day, to the weekend. Who didn’t?

Now I want the clock to stop. Stop ticking. Freeze. Please.

Time is all we want. Time, health, and happiness, and so much more of it. While I don’t necessarily believe that time moves in a linear progression, that perhaps it’s more cyclical, I still feel things are moving at the speed of light and it may all be over before I know it.

This is why we describe our quest for a cure as a race against time.

As we head into the season of gratitude, we are beyond thankful for every second with Riaan. Each moment, especially with him, is richly pregnant with the divinity that encompasses all living beings.

And all we can do is let it nourish our wounded hearts.

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Thank you to all who supported this year’s #Ride4Riaan! We had our most successful ride fundraiser yet, raising almost $15,000! It’s not too late to donate. Please click here if you’d like to contribute. Many thanks to Cyclist Winty Singh for his commitment and dedication to children with Cockayne syndrome.

We are grateful to all who have helped us continue the costly and exciting work to develop a potentially life-saving gene therapy for Cockayne syndrome at UMass Chan Medical School. This miraculous work is the collective story of us, and the power we have built together.