A Love That Knows No Limits
Insights and Reflections from CS Warrior Moms
(May 11, 2025) - Happy Mother’s Day from Riaan Research Initiative! Today, we’re honored to share the voices of the incredible warrior moms in the Cockayne syndrome community.
We reached out to ten mothers of children diagnosed with Cockayne syndrome, across different age groups and levels of severity. Cockayne syndrome is a rare neurodegenerative genetic disorder that leads to premature aging, growth failure, developmental delays, vision/hearing loss, and a significantly shortened lifespan.
We asked these moms a range of questions about their experiences with motherhood. What follows are their candid, thoughtful, and deeply moving responses. Some of the moms are bereaved, and we are especially grateful for their willingness to share a piece of their hearts on such a difficult and emotional day.
Question 1: Advice for Newly Diagnosed Moms
Question 2: What Helps You Through Stress
Question 3: Favorite Recent Memory with Your Child
Question 4: Channeling Motherly Instinct After Child Loss
Question 5: The Lasting Impact of Grief
1.) Let's share some advice for moms of children who are newly diagnosed with Cockayne syndrome. Looking back, what's one thing you wish you had worried about less when it comes to your child?
Lena
Don’t be afraid. Enjoy the time you have, and make it the most special time you can. Focus on what’s important: being warm, safe, well-fed, giving love and feeling loved. Everything else isn’t as important. Enjoy every moment and be happy and thankful even if that moment just feels “okay.” And if things go bad, believe that there will be better moments.
I think all the worries are just part of it, and there isn’t one thing I wish I’d worried less about. I just wish there hadn’t been so many worries.
Katherine
I wish I didn’t waste time and energy by worrying. Just try to enjoy each day, worrying does not change outcomes.
April
Looking back to almost two years ago when we got Luca’s diagnosis, my world had gone dark. My one piece of advice to newly diagnosed moms would be to reach out to someone and don’t hold the grief in like I almost did. Initially, I felt like I was a bother because of my sadness while everyone else’s life carried on normally. I felt stuck in the darkest time of my life.
I am forever thankful I found a CS Facebook group and Riaan Research Initiative which all welcomed me with open arms on this journey, answered my many questions, and allowed me to share my grief with others.
The unknown is scary when you have a child with Cockayne syndrome. I wish I worried a lot less about this “timeline” of life expectancy because the truth is we don’t know and can only hope for many more years and memories.
Stephanie
Looking back, I wish I would have worried less about doctors’ expectations when they didn’t really understand the growth of a child with Cockayne syndrome.
Nicole
I wish I had worried less about achievement of milestones and skills. We received our genetic diagnosis at 6 years of age. Until that point, therapists and doctors were concerned with helping Toby achieve skills. I found it so heartbreaking that no matter how hard I tried, I couldn't “make” Toby achieve these things. At the time, I felt as if I was failing. But during these years we didn't know Toby had Cockayne syndrome and we were assured by the medical profession that he'd be fine.
This deficit model of therapy and healthcare is not productive for our children. We need to celebrate what they CAN do and support them to achieve their potential without a timeline or comparison to typically developing children.
Jo
I’m going to be difficult here and say that the worries probably propelled me into action, into a purpose with Riaan Research Initiative. That being said, I wish I worried less about the track everyone thought Riaan was supposed to follow even as a severely disabled child: attending school regularly, engaging in an infinite number of therapies, all of the structure and appointments. I was such a perfectionist, and I didn’t find liberation and relief until I stopped worrying about what he was supposed to do, and instead just made decisions from the heart. If it felt right, I did it. If it felt wrong, I didn’t. I wish we would also stop comparing disabled children to other disabled children. When Riaan was diagnosed, a fellow CS mom told me to just love and hug him as much as possible. Amazing advice: loving him is the source of my happiness. It’s important to also recognize how fortunate we are - despite the challenges and fears that consume us with this diagnosis, we are blessed with some of the most loving and joyful children on this planet.
Tiana
I spent a lot of energy worrying if I was doing enough. Looking back, I can see that my love and simply being there for Charlie was what he needed most. I would also have trusted Charlie's ability to find his own way of doing things. He is stronger, braver, and more resilient than I could have imagined.
Christina
When Ellie was first diagnosed, I was constantly worrying about her food intake, her weight gain, and I was always pushing foods even when Ellie clearly was not interested. Of course I still worry about her nutrition daily but I try my hardest not to worry as much if she is having a bad feeding day or when she doesn’t finish a meal. I don’t let it ruin our day and now understand that these days are going to happen.
Katrina
One thing I’ve learned is that every single day is a gift—live it to the fullest. When you're newly navigating a diagnosis, it can feel overwhelming, but you're not alone. One piece of advice I always share is to get connected with your local charities and nonprofit organizations. These groups offer incredible support and experiences that can bring so much light into your family’s life. We’ve been truly blessed to be involved with organizations like AZ Kidz Experience, which raises funds for Phoenix Children’s Hospital through exciting off-road events. We’re also a HopeKids family, and they offer a full calendar of fun events that have helped us make unforgettable family memories. Community truly makes a difference.
Danielle
As a mother, we will always worry about our child in one way or other. However, the advice I can give mothers of newly diagnosed children is to continue to advocate for them; you are their best advocate and do not stop until you get results. Your child matters no matter the diagnosis.
2. ) What helps you get through the stress of the day? What works well?
Nicole
I wish I knew! I live with the stress and use it to drive me in my advocacy efforts for better support, care, and services to help alleviate the pressure placed on rare disease families.
We engage support workers who assist Toby in the home in the mornings and after school, and a few hours each Saturday. This helps me with our daily routine and allows me to spend time with my other two children.
Christina
Every day has its stressful moments but taking in all of Ellie’s laughter and joy makes the stress go away. Focusing on the now is something I try to do every day especially during the harder times. It also really helps to take Ellie out of the house daily whether to go on a walk, to the store, an appointment or even for a car ride - that helps relieve stress and it also breaks up the day.
April
When my grief feels heavy and stressful, I enjoy diving deep into a book to live in a different world, even if just for a moment.
Katrina
For me, it’s about perspective. I try not to let the little things get to me and constantly remind myself that things could always be worse. I focus on the positive and what truly matters. Spilled milk wipes up in a second, and broken glass sweeps up just as quickly. Stress loses its power when we remember what’s really important—love, laughter, and being present with our kids.
Stephanie
For me, it’s working out or going for a walk with a friend.
Katherine
It's not always easy to do, but if I am having a stressful day, I do try to step away and remind myself that none of this is Sarah’s fault and my frustrations pale in comparison to what she has to endure.
Tiana
I've learned to give myself permission to take breaks. I like to go on short walks, crochet, bake, or think of something to be grateful for. Those small moments of care for myself have made me stronger for Charlie.
Jo
Honestly, it’s the other CS moms I’ve gotten to know and love. They’re sounding boards, and good friends. To know I can contact them with the completely trivial to the more serious, at any moment of the day and night, is the (often comic) relief that I need to make it through the stress of the day. It’s the “Riaan won’t eat!” to the “Why can’t I stop eating sushi?” messages that carry me through, and the comfort that we can fluctuate from being typical chatty soccer mom types to the more serious mothers of children with a very scary rare disease, and all aspects of this identity are welcome.
3.) Describe a recent favorite memory with your child.
Danielle
One of my favorite memories with Faith was to be able to witness her hearing for the first time with her new hearing aids. It brought tears of joy and happiness as we could see the excitement on Faith’s face, her responses indicating she could hear us, and her laughter which just lit up the room. In this moment, we could visually see she could hear and communicate in her own way and that was such a blessing for our family to witness.
Katrina
There have been so many beautiful moments this past year, but one that stands out in my heart is the day Braden flew an airplane. Thanks to Above & Beyond, Braden got the incredible opportunity to be a pilot. He invited me and his grandpa to fly with him, and he gave us a wild ride—soaring side to side, up and down, fully in control. What made this so powerful was that just a year earlier, Braden had experienced vision loss. But that didn’t stop him. Watching him fly that plane, so confident and fearless, reminded me of his strength and resilience. Despite the challenges of Cockayne syndrome, Braden inspires us every day to believe that nothing is impossible.
Tiana
During Charlie's fourth birthday party, he got a surprise visit from his favorite superhero, Spider Man. He was so happy and it was wonderful to see.
Nicole
We've had some incredible experiences the past year including a family holiday courtesy of the Make-A-Wish Foundation and attending the Amy and Friends Conference in the UK, but my favorite memories are made each night when I put Toby to bed.
We cuddle and squeeze so tight and Toby grins from ear to ear. I pretend to gobble up his squishy cheeks and Toby giggles with joy.
As I exit the room, Toby sits up and blows me kiss after kiss before throwing both arms out wide, closing his eyes, and pursing his lips. I run back into the room and scoop him into my arms and cover his cheeks in kisses.
This is our nightly routine, as dictated by Toby. I spend time during these moments committing it to memory. The feel of his cheeks and hair, the pressure of his arms around me, the sound of his giggles, and his joyous and adorable face so full of life and love.
Christina
Watching Ellie become a big sister in March has been the best memory. Even though she is still skeptical of her brother at times, the smile on her face when she looks at him and grabs his hand is the best thing to see. So far she has only tried throwing one toy at him!
Stephanie
I have 2. We took Danny to Disneyland for his 5th birthday and seeing the look on his face when he saw all the lights was priceless. The second was getting his sensory room from Make-a-Wish Foundation. It’s decked out with beautiful lights which Danny loves.
Lena
Lately, I’ve been really missing a routine I had with Kian. Every evening, we’d snuggle on the couch, and I’d sing songs for him. And most of the time, he’d get so involved. He loved songs, especially ones with repetition or ones that had claps or pauses. He loved to make noises himself. He’d grab my hand and raise it up and down, clapping along with me, and if I stopped, he’d try to keep going. One of the songs was “If You’re Happy and You Know It.” I made up a whole new version for him because he couldn’t clap. I sang something like, “Say hmmm” and paused, and he actually made the sound. Then I’d continue singing. In those moments, it felt like time stood still—nothing from the day mattered anymore, nothing from the future was important. It was just the two of us, singing, clapping, making sounds, and being in that moment.
April
My favorite memory I think about quite often is the four of us getting on a train. Luca is absolutely obsessed with them. We headed three hours to the town that John and I fell in love in: Ventura, CA. We regularly went there together before having kids. To see the happiness on Luca’s face while looking out the train window is always embedded in my brain. All his dad and I want out of Luca’s life is to make sure that he is always happy and feels so incredibly loved. We spent two days in Ventura, with endless hours of swimming at the pool, and building sandcastles at the beach. To see and feel that joy and happiness all over Luca’s face makes it mean that much more to me and is a memory that will stay with me forever.
Katherine
Sarah has been fortunate that for many years she was able to travel and she has been all over the globe, but somehow never had been to Paris. For her 31st birthday in October, our whole family celebrated in Paris. She wanted to see 3 things - the Mona Lisa, the Eiffel Tower and Notre Dame. Check, check, check! When our tour guide asked our group what other famous structure the architect Gustave Eiffel designed, her hand shot up and she answered, “The Statue of Liberty!"
Jo
Last year, we traveled far and wide with Riaan, from deserts to mountains to the sea. All of these experiences gave birth to precious memories. But my favorite recent moment was whenever Riaan, Jivan (his little brother), and I play Riaan’s favorite interactive game: balloon volleyball. The other day, we were away, and in the hotel room, we just went back and forth, hitting a balloon between the three of us, the sounds of our laughter surely heard around the world. The boys then fell on top of me on the bed, one on each side, their little heads nestled into my armpits, and I thought: I’ll never be this happy again. These are the happiest days of my life.
4.) There is a famous quote that when a child is born, a mother is also born. What do you do with that instinct to mother, that deeply-ingrained desire to caregive and tend to a child, when your child has passed? How do you channel that energy, that part of you, into your new reality?
Lena, whose son Kian passed away on December 31, 2023
I think I’m much more patient with others because of my experience being a mother. I’m not sure if I channel “motherly energy”—I just work a lot, often more than I get paid for. I also like to play with the six-year-old son of my neighbor. When we play, it’s a mix of me missing Kian, who was my only child, and imagining what it would be like if he were standing there with me. But at the same time, he’s so different from Kian, so it doesn’t bother me too much. He’s like the hypothetical child I never had. I care about him a lot, think a lot about his development, but I can also distance myself and just let him and his mom be, getting involved to the extent that is comfortable for them.
There’s an Italian mother who wrote a book about her life with her son who has Cockayne syndrome, called “Frollino, il mio bambino magico” ("Frollino, My Magical Baby"). That title really resonates with me so much —Kian wasn’t a normal child, Kian was a magical child.
Danielle, whose daughter Faith passed away on February 22, 2025
The instinct to mother will never go away; I continue to support others in my family including my eldest daughter. I believe this is the time when we lean on each other the most; to be able to go through these difficult moments and process them together as a family unit. I would say that you have to allow yourself to feel all the emotions. Seek support groups, individual therapy sessions, therapists or you can even speak to the ones you feel you can trust the most to talk through your experiences.
For me, a way to shift into this new reality has been to continue to advocate and spread awareness for my child; support other families that may be going through similar experiences, continue to share stories about Faith to keep her memory alive and her legacy to live on forever. Others may wish to create a memorial or a non-profit organization to continue their child’s story and give hope to others. Even though it may hurt (a lot), I believe we can find healing in this new process.
5.) How does the process of grief impact your memories of mothering your late child, and how you feel today?
Lena
Last year, in an article for Riaan Research Initiative, I wrote that losing Kian felt a bit like what I imagine withdrawal from an addictive drug must feel like. And in the past few weeks, this feeling, this “craving,” has increased in intensity again, usually in the evenings when I sit in my chair. Sometimes it gets so intense that it feels almost unbearable and I would do just about anything to get what my mind is craving: holding Kian in my arms.
If someone had told me Kian was at the North or South Pole, and it would cost a fortune to get there, I wouldn’t hesitate. I’d give everything I had, mobilize every resource, and leave at that moment without looking back or thinking about anything like the responsibilities I have, just to be with him again and hold him in my arms.
I’ve written before that my memories of Kian are still so vivid, but I’m afraid of them fading. And that’s exactly what’s happening. They’re fading, and when I realize how much they’ve faded, I sometimes just want to stop—stop time, stop living, stop losing Kian bit by bit every day.
And I think Kian made me a better person. Sometimes it was hard for me to love myself, but he taught me how. Now that he’s gone, I feel like it’s becoming harder again to accept and love myself. I’m becoming more dissatisfied with myself and more uncertain. It was such a huge gift he gave me, and it’s still present in my memories, but in my day-to-day life, it’s slowly fading. And I don’t know what I can do about this. Except hope to hold onto my son’s beautiful gift to me, his mother, for as long as I possibly can.
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It’s not just the gift of mothering we give to our children. It’s the tremendous love we receive in return, the kind of infinite love that always feels too good to be true, too powerful to be possible.
To all moms out there, we know mothering isn’t easy despite the different challenges we may face, from raising medically fragile children to typically developing ones. Happy Mother’s Day to all, and a special thank you to the moms of the Cockayne syndrome community for their contributions to this piece.
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If this piece moved you, consider supporting the work of Riaan Research Initiative with a special Mother’s Day donation. Your generosity helps us continue our work for families affected by Cockayne syndrome. Donate here.