Confessions of a Rare Disease Mom

Plus some big news coming soon!

by Jo Kaur, Founder, Riaan Research Initiative

Riaan, on his dad’s shoulder.

It's in the sharp angles of his face, which grows thinner as the years pass by. It’s the way his head falls forward more often, as if it’s become too heavy, too difficult to hold up. It's the way his kind brown eyes try to focus on an object a slight distance away, and sometimes being unable to do so, causing his nystagmus to become worse. It's the way his cute little face becomes scrunched up, annoyed when he is not being paid attention to. It’s his growing crankiness and frustration when he is unable to communicate what he wants. It's the way meal times are never something he enjoys, not like the rest of us do, but always an obligation. It’s the way his head has completely stopped growing or the way his eyes are no longer able to fully close when sleeping. It’s the way his ankles and feet turn in, unable to be completely flat no matter how long he wears his ankle-foot orthotics. It’s the way I hug his increasingly thin (yet strong) body close to mine, feeling his ribs. In these cuddles, my happy place I call it, my thoughts sometimes drift to the future, imagining against all odds, Riaan as a young man, a hearthrob if there ever was one, everyone falling madly in love with him because that’s the kind of person he is. It’s the way my brain then immediately shuts down, scolding myself for daring to imagine a future that may never come to fruition because this disease overtaking his beautiful little body is powerful, and how much control do I really have?

This is what they call disease progression. And still, we're only in the benign stuff.

This is also the part where I'm supposed to revert to positivity, and try to see the bright side in our situation. There's a lot of pressure to be "positive" much of the time in the rare disease community. I’m not sure if this pressure is internal or external to the community, perhaps a bit of both. People are uncomfortable with negativity, with pessimism, with sadness. Never mind the toll on our mental health to have to pretend to be happy despite the tragedy boiling inside of us.

Well sometimes there isn't any joy. Sometimes it's ok to just acknowledge the truth, that it sucks. I, like every other parent with a severely sick child I’m sure, wish I could remove this horrible disease from my son’s body. I can't, of course, and it's maddening. There’s no magical or ancient ritual that will let me do it, that will let my body and mind take over the horrors. I can sit here and beg the universe all I want. But the universe has its own ideas, its own plans.

I get why we as a community try to be so positive. One, many of us do feel that way, but also we really want people to see the beauty that we see in our children, the magic embedded in our lives despite the hardships, the powerful creatures we all become out of necessity. When people think of children with severe disabilities, there tends to be a focus on what they cannot do, not who they are, and what they can do. There’s a certain dehumanizing component to all of it. So we share our stories, we bring the world into our lives via social media, in the hopes of humbly connecting to those who have never gone through what we have, yearning for others to fall in love with our children and see them for who they are like we do, especially given their tragically short lives here on this Earth. I think we also share (overly) optimistically at times because we don’t want others to falsely think that our lives are just miserable or difficult all of the time. They are and they’re also not. It’s hard to explain. The medical situation, the stressors of life, from our families, friends, people we know, our employers, insurance companies, schools - which continue to impose as if we are not remarkably traumatized - these all make life challenging but never our children. And the love and bonds we have make us the luckiest on the planet.

Like other parents of children with severe rare diseases, I desperately want people to understand that my child is more than his disorder. Riaan has a distinctive personality, he is a person, with likes, interests, and quirks. Riaan is the kind of kid who cuddles up close with his pacifier when he’s ready to nap. He also has this incredible ability to find his pacifier in any setting, it’s really quite a gift. A bed full of pillows, a mat full of toys, Riaan will locate his pacifier in seconds and skillfully bring it to his mouth. Riaan is adorably shy around new people. He is an adventure-seeker: he demands we go out as much as possible, to parks, beaches, or just for a drive, often gesturing toward the door or car. While eating, he loves to throw the ball, and if someone tries to stand in front of him to catch it, he’ll throw it around them and giggle. And he always finds a way to throw the ball around them, no matter how good of a “goalie” that person is. Most importantly, he just oozes love, not just for his parents, but others around him. Who can stay upset when they’re on the receiving end of a brilliant smile from Riaan?

Riaan shares a smile with his dad during one of his outdoor adventures.

There are so many stories, so much laughter, and sometimes it’s hard to share them all, or even organize them in our heads. Sometimes I’ll get asked to briefly describe Riaan by a scientist, an interested donor, or a media outlet, and I will struggle because where do I begin? How do I explain this beautiful creature to others? You can’t hear about Riaan, you have to know him, you have to play with him, you have to chill with him, to truly get it. He’s sunshine and roses, unicorns and rainbows, ice cream and magic. And I’ve never come across anyone like him.

It’s also important to remember though that the rare disease community doesn’t just exist of bubbly and beautiful children and their families, living life well enough as portrayed on the shiny screens of social media timelines despite all of their various challenges. We are also a community of ghosts, full of the souls of children whose lives have been brutally taken by Cockayne syndrome, for decades, maybe even centuries. We see the survivors, the traumatized parents, and watch with a deep respect, sorrow, and love, even from afar. We see how time does not heal their wounds, even as the years pass by, no matter how fierce, extraordinary, and resilient they are (and that they are). We know they are our likely future, we will be in their shoes, we will feel their pain if we are unable to raise enough resources to get treatments developed. We hurt for the children who have passed away. We ache for those living with the disease now. We work vigorously toward healing for the ones still alive, for future generations born with Cockayne syndrome.

We know the fate that awaits our children unless we can build treatments. To that end, I offer some genuine hope. We have big, historic news coming up on our Cockayne syndrome gene replacement therapy program. I am excited that we can finally share this update publicly: it fills me with anticipation, a light at the end of the tunnel, and I hope it will do that for you too. Maybe beyond the joy our beautiful children bring us, and our loving donor base that has given us a path forward, there is a reason to be genuinely positive after all. Thank you for being here on this journey with us. You are making a difference, and I hope you can see that. Stay tuned for our research updates!