by Jo Kaur, Founder and Chair, Riaan Research Initiative
A year ago today, on March 12, 2021, my 2 year-old son Riaan was diagnosed with Cockayne Syndrome Type 2. It was a Friday afternoon, and we’ll never forget that day, or that moment, for the rest of our lives. We were left devastated, shattered, our hearts broken. The wounds have not healed. Maybe they never will. But some things have changed, and that’s what I’m here to talk about today.
We like many other parents in a similar situation commemorate diagnosis day by holding our child close, cuddling with him, feeling his heartbeat, hearing his breath rise and fall. He is alive. He is here. He is still happy. He is okay.
Here are some lessons I’ve learned in this past year:
1.) Time moves too quickly. No one knows when they will die but when there is a ticking time bomb on your child’s life, you know that every moment is precious. It’s important to make lasting memories and do what you can. You wish you could freeze time while simultaneously allowing the research to move forward. Because we know the time is limited, there is so much pressure to take advantage of every moment, and the inevitable let down when you worry you are not doing enough. Is he having fun? Is his life interesting? Is this enough?
2.) The journey is lonely but support can come from new places. From the minute Riaan was diagnosed, I noted that the journey is lonely - and this remains true - but we have come to learn that we are not completely alone. We have felt the love of other parents in our situation, Riaan’s therapists, and of complete strangers who have been moved enough to want to significantly support our efforts to find treatments (thank you to our donors!). We have made deep connections with researchers and scientists. But outside of this world, it can be hard to connect with people. I have no interest in going out to dinner, or going to the movies, or hanging with friends. The water cooler conversations with colleagues seems like another lifetime ago. My only escapes are Netflix and other streaming channels, and murder mystery books. That world of getting to know people seems to have come and gone. Will it be back? I don’t know.
3.) There is still so much we don’t know. We may have learned as much as we possibly can about the disease - as non-scientists - but science is a complex, difficult world, and the research ecosystem has so many discoveries left for us. There is so much we don’t know, and it can feel frustrating. Science can also move a lot slower than we expect, and this adds to the anxiety. It is also impossible to do this work alone. Building connections with other rare disease families on a similar odyssey has been critical. We learn from each other’s mistakes. We lift each other up. We share fundraising strategies. We ensure we are using our time and limited resources in the best way possible. Are we perfect? No, but we are trying. And getting better each day. This team of committed families carries us through.
4.) Stress is a constant presence but joy is possible. Life as a rare disease parent or caregiver is extremely stressful. There are a lot of emotional ups and downs. There is a lot of work to do. The days are extremely busy, between caregiving and running a foundation. Many days are hard. The doctor’s appointments, the calls with insurance companies, the Zooms with scientists, the many emails, the caregiving responsibilities, and even daily household chores can be a burden. Many moments are sad. I wish I could say I’ve learned to navigate the stress better since last year but I’m not sure I have. I just keep going, because I have to, for Riaan. I wish there was more support for families like ours, both personally and professionally. I wish we didn’t have to jump through so many hoops to get services.
But joy is possible, and more abundant than you would expect. The most joyful moments, I find, are when I’m with my child. Everything else pales in comparison. Yesterday Riaan had a hearing test. He hates any kind of doctor’s office or medical setting. He was hysterical when they put in the headphones, and gave me a really hard time. His reaction surprised us since it’s such a non-invasive test. He kept arching his back, he refused to sit still on my lap. It was a struggle to hold him, he was literally screaming bloody murder for almost an hour. However, as soon as we get him back into the car, he’s all smiles, laughing, and cuddling with me. Riaan is just hilarious, one of the funniest people I’ve ever met. These are the moments we have, the intense frustration, and then back to the extreme joy. He’s happy again, and things are good, for now. Also, his hearing is still normal, which was a major relief.
5.) You really hate the name of the disease. I hate the words “Cockayne Syndrome.” I always have. I hate the name. I hate how it sounds. I hate what it does. I hate that when I search my email inbox for Cockayne Syndrome, there are thousands and thousands of results. I hate that it’s part of our lives, such a pervasive part. Yet we know we’re more than this disease. We know Riaan is more than this disease. We are committed to beating and overcoming this disease.
6.) Your hope grows. The really good news is that I can honestly say that I have much more hope now than I did this time last year, despite all of the challenges and frustrations. First, and I knew this would be true, Riaan continues to surprise and awe us in all of the ways that he has progressed. He is so smart, so alert, and so inquisitive. He tries so hard in his therapies. He is hungry to move. He is stronger, he is smarter, he is funnier. I am full of abundant hope, for him, for the research, I am so excited by the possibilities. I have said it before and I’ll say it again. I believe we have a real chance at building effective and safe treatments. WE CAN DO THIS.
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Please help us continue to fund Cockayne Syndrome research by making a tax-deductible donation today: riaanresearch.org/donate.
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Karin Matilsky DiGeorge
One year ago the lives of an entire family changed. Mother, Father, Grandparents, Aunts Uncles and Cousins. Life has never been the same. I look at my beautiful grandson and my heart breaks and yet my heart is so full. The love we have for this child is a love like no other. It is a very lonely journey one that requires the love and support of the entire family who loves this boy unconditionally. There are times I just want to reach out and hug you Jo, no words just a hug. I always say that our Riaan was brought here for a reason and I will never stop believing that. He is a gift, he is a king and most of all he is my inspiration to live. May God continue to bless us with his laughter and love and may we continue to watch this incredible boy grow and marvel at his determination to achieve his goals. A love like no other... We love you so much Riaan..