They Carry the Weight of the World
Five fathers reflect on parenting a child with Cockayne syndrome
(June 15, 2025) - Happy Father’s Day!
It’s not easy getting dads to open up but today we’re honored to share reflections from five incredible dads raising - or remembering - children diagnosed with Cockayne syndrome, a severe and fatal neurodegenerative genetic disorder that causes extensive developmental delays, vision and hearing loss, growth failure, and a significantly shortened lifespan. We asked each dad to reflect on how fatherhood has shaped them, what their children have taught them, and the moments that have left a lasting mark.
Rick and Ellie, age 3.
Bryon and Faith, forever age 4.
Nate and Danny, age 5.
John and Luca, age 3.
Richie and Riaan, age 5.
Before we dive into their heartfelt responses, we want to share a scientific milestone that brings renewed hope to our entire community.
The Mice Are Alright
Our brilliant and dedicated collaborators at UMass Chan Medical School, Rita Batista and Miguel Sena Esteves, posted a pre-print of their proof-of-concept work in mice with severe Cockayne syndrome earlier this week. The results are nothing short of thrilling. When we first launched Riaan Research Initiative in June 2021, we never could have imagined that the work we’ve started—with the generous support of our donors—would lead to a comprehensive scientific paper demonstrating the effectiveness of a novel gene therapy for CS. As our Scientific Advisory Board member and worldwide CS molecular expert Martijn Luijsterburg said of the pre-print, “This is a game-changer!”
Using AAV9 gene therapy, UMass scientists were able to extend the lifespan of mice models of CS from 22 days to 189, a whopping 8.5 fold increase that exceeds results seen in many other gene therapy programs involving diseases impacting the Central Nervous System. We’d shared news of their successful work in mice previously but this paper describes the science, and provides all of the nitty gritty details and experiments. While the treatment wasn’t a 100% cure, the results were extremely promising.
In short, the mice are alright, and the future of in-human clinical trials is closer than ever. As always, we hope to translate what we see in mice to children.
Read the pre-print here and check out our previous discussion on the significance of Cockayne syndrome mice on gene therapy development here. Now back to the dads!
Rick & Ellie
How does being a dad of a child with CS change the way you see the world, and your place in it?
Being Ellie’s dad has taught me the importance of patience. Every day I am presented with a situation that requires more patience and understanding than I anticipated. Ellie has taught me to focus on what is truly important, and largely ignore the rest.
What’s one moment with Ellie that’s forever etched in your memory?
Ellie’s first birthday, which ironically was also Father’s Day. We had a perfect day with brunch, play time, a long nap, ice cream, swimming in the pool, and watching golf at the end of the day. We’ll never top that Father’s Day.
What does Father’s Day stir up in you?
Excitement! By Father’s Day, summer is in full swing, which is Ellie’s best season. I look forward to it more than any other holiday, and get excited about spending a day with the kids.
What’s something Ellie has given you—emotionally or spiritually—that you carry forward in your life?
We are forced to live in the moment with Ellie, and I constantly think about gratitude. I am so lucky to be Ellie (and now Bennett’s) dad, to be married to my best friend, and to have as much fun as we do. There are hard days, but I try to cut through the sadness and grief to focus on how lucky we are.
Bryon & Faith
How did being a dad of a child with CS change the way you see the world, and your place in it?
Becoming a dad to a child with CS opened my eyes to the brokenness in the world - but even more, it revealed the beauty, strength, and resilience in our daughter, Faith. It affirmed my purpose as a trailblazer, an advocate, and a voice for those who are too often overlooked.’
What’s one moment with Faith that’s forever etched in your memory?
Honestly, the moment that replays in my mind the most is the day before she passed. I was recording her as she tried to get to me, her face lit up with the biggest smile. She was full of joy—right up to the very end.
What does Father’s Day stir up in you?
Father’s Day brings a mix of emotions—some felt one at a time, others all at once. But through it all, I’m grateful for the ability to feel, and deeply honored to be Faith’s dad, even though she’s now in heaven.
If someone who never knew Faith asked about her, what would you say?
Have you ever felt that flutter in your stomach when you really care about someone? That’s what it’s like meeting Faith—she has a way of making everything feel better. Strength in a small package and hope for the hopeless.
What’s something Faith gave you—emotionally or spiritually—that you carry forward in your life?
Faith gave me new life. She taught me to truly appreciate living, to be thankful in all things, and to let go of the self-centeredness that God never intended for me. Through her, I experienced unconditional love, saw the reality of God, and came to understand that every person—no matter how different—is made in the image and likeness of God.
Nate & Danny
How does being a dad of a child with CS change the way you see the world, and your place in it?
I did not think something like CS even existed. The world started to seem very unfair when we got the CS diagnosis. My place in the world now is to make Danny's life easy and give him as much love and care as possible. There have been many things that I realized I won't get to experience with Danny because of his diagnosis, but there’s also been a lot of little moments like Danny's laughs and happiness that make up for that.
What’s one moment with Danny that’s forever etched in your memory?
When we had to go to the hospital with Danny when he had RSV - I’ll never forget it. He was so weak and just so miserable. I felt like I might lose him to this illness. Luckily, he recovered after 4 days. His smile and laughter once he felt better was the most memorable thing about the situation. It felt so good to hear and see that.
What does Father’s Day stir up in you—joy, reflection, grief, pride, all of it?
I would say all of them. I live every day wondering how much time Danny and I have left together, but on Father's Day I try to forget this thought and concentrate on the moment. It is hard sometimes to put the thoughts aside. However, every smile, every laugh, every snuggle, and every time I see my little boy just breathing helps with avoiding these negative thoughts. I'm very glad to have such an amazing son like Danny and I would sacrifice my life to make his better. I find myself very lucky that we have a lot of amazing memories that I can look back on.
What’s something Danny has given you—emotionally or spiritually—that you carry forward in your life?
When Danny was just a few months old and nobody could give us an answer on what was going on with him, I had lost all faith and was in a very bad spot for quite some time. One morning when I woke up, I looked at Danny and he had this huge smile on his face. His eyes were still closed and he let out one of his happy sounds: this made me feel so good and from then on, I’ve used that moment to pick myself back up when the negative emotions overwhelm me. He has made me understand that small moments like this can make a huge impact on fighting depressing thoughts. I'm very happy that I have Danny and I cherish every second I get to spend with him.
I really hope that science and technology will soon be able to help CS kids like Danny live a "normal" and full life so that they don't have to suffer and that parents can breathe a bit more easy knowing that maybe their child will outlive them.
John & Luca
How does being a dad of a child with CS change the way you see the world, and your place in it?
Being a father to a child with CS has made me see the world more cautiously—but also with greater curiosity. Luca inspires me to experience more in life with both him and Liam. Because of them, I feel incredibly grateful just to witness my sons living and growing.
What’s one moment with Luca that’s forever etched in your memory?
It’s hard to choose just one moment—every day with Luca is a blessing. But if I had to pick, it would be hearing him talk. That’s something I’ll never take for granted.
What does Father’s Day stir up in you—joy, reflection, grief, pride, all of it?
Father’s Day makes me feel deeply thankful—thankful that I get to be Liam and Luca’s dad.
What’s something Luca has given you—emotionally or spiritually—that you carry forward in your life?
Luca has given me a new kind of strength - both physical and, even more so, spiritual. He’s made me a better man, for him, for Liam, and for the world.
Richie & Riaan
How does being a dad of a child with CS change the way you see the world, and your place in it?
It puts life under a deeper microscope, making you see things you didn’t notice before. For instance, strength isn’t just physical, it’s also what a child like Riaan has to go through everyday. Now that’s strength. Riaan has also driven gene therapy research into Cockayne syndrome in ways I never thought possible. I’m so, so proud of him, and see how much tremendous change even one child, with so many challenges, is able to make. My place in this world is to make sure Riaan and his little brother Jivan aka Lu, our nickname for him, are taken care of. So in that regard, Riaan having CS didn't change things because my place would have been to make sure my boys are taken care of either way.
What’s one moment with Riaan that’s forever etched in your memory?
Even though there are many memories that I have with Riaan that are forever etched in my mind, there is one moment in particular that will always have a place in my heart. We went to get a second opinion on Riaan’s vision after he wasn't showing much improvement at that point following his cataract removal surgeries (even though the doctor did tell us that it would take time for everything to heal). It was a rainy day in Manhattan, and Covid protocols were in place, so only one parent was allowed in with Riaan. I stayed behind, nervous, while Jo and Riaan went in. The doctor at Mt. Sinai did tests and said that the ophthalmologist who had performed Riaan’s eye surgeries did an amazing job and she thought he would one day see beautifully. I was relieved. Little did I know that as soon we arrived home, Riaan would begin smiling at me - in response to my smile - and following me with his eyes for the first time in his life. It was something that I will never forget. It’s like his eyes finally woke up, and his vision was magically restored. The joy of knowing he was beginning to see was incontrovertible.
What does Father’s Day stir up in you—joy, reflection, grief, pride, all of it?
Only pride and joy. Regardless of Riaan's condition, I would never say that Father’s Day would be anything less than that. I have Riaan and Lu. They give me purpose. Something that you might think you have already, but until you have children, you don't. You live for them. I see Riaan still progressing and I get a sense of pride and joy seeing him continue to improve.
What’s something Riaan has given you—emotionally or spiritually—that you carry forward in your life?
Riaan's strength can be quite contagious. I see what this boy goes through on a daily basis and he's always smiling. I'm not the most positive person, but I do see Riaan's strength as a reason to be a more positive person. Riaan gives me everything that I could ever ask for and even more than that. Riaan has taught me so much over time and I will continue to learn from him every day for the rest of my life. I only hope, with everything that I have, that he’s here, in person, to teach me for many more years. I have a lot to still learn from you, my sweet Riaan!
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To Rick, Bryon, Nate, John, and Richie — thank you for opening your hearts. Your honesty, strength, and love remind us what fatherhood looks like at its most courageous. To Bryon, we extend our deepest love and condolences, holding your beautiful daughter Faith close in our hearts alongside you and your family, always.
To every dad navigating rare disease, grief, uncertainty, or simply the quiet, daily work of showing up — we see and celebrate you.
This Father's Day, please consider honoring these families with a gift to support our mission. The progress we’ve made in gene therapy is real — but we need your help to keep going. Our children deserve every chance at life. Donate here.