SEEDS OF KNOWLEDGE: WARRIORS OF CHANGE
Gurjot “Jo” Kaur’s advocacy as a civil rights lawyer was redirected to finding a cure for Cockayne syndrome when her son, Riaan was diagnosed with a devasting recessive disorder on March 12, 2021.
Cockayne syndrome is a rare and life-limiting neurogenerative disease, caused by mutations affecting either the ERCC6 or ERCC8 genes. Given there is no cure or known therapeutic treatments for the syndrome, Jo knew she could not wait for it to be too late. Wanting to accelerate the development of a treatment, Jo founded Riaan Research Initiative which raises funds and advocates for a cure so that children like Riaan can dream of attending Kindergarten one day.
I met Jo, a fierce warrior of change, as we shared space on a panel about Mothering, hosted by Kaurs ReImagine. As Sikh women, we do not often find spaces that are safe and open to discussing Mothering in forms that are non-traditional. This space not only offered liberation of voice but also of experience. Jo shared how a sense of belonging in parenting spaces does not feel or offer the support she needs as a new Mum, as she fights to find a cure for a life-limiting disease for her son. By listening and learning, I hope this is something that we can change.
Riaan is blessed with deep heritage – Sikh, Panjabi from Jo and Jewish, Italian from his dad’s side. He loves books and ‘whose smiles and laughter can charm the world’.
I welcome Jo Kaur to the blog and hope that we can offer the kind of support that is needed and necessary.
N: Welcome! What did you find was the most supportive action (if any) during the first few months after Riaan’s diagnosis with Cockayne syndrome?
JO: For me, support came in the form of the rare disease parent crusader community. As soon as I discovered that there were all these parents who were out there working to develop treatments themselves for their child’s rare disease – whatever it may be – and raising money, and running organizations, I knew I had found my people. This was the community of hope, the community of idealists, the community of miracle workers, who against all odds, were daring to do what most would not. And some had made great progress, and even found effective treatments for their child’s disease! Learning from these parents instantly buoyed me into action, and gave me the language, courage, and stability I needed to move forward for Riaan and with Riaan Research Initiative.
N: What brings Riaan joy?
JO: Riaan loves interactive game play with his parents, therapists, and family members, that’s probably his absolute favorite thing to do. He also likes to be challenged, for instance being pushed in physical therapy while on his KidWalk (an adaptive device that helps him walk), and then playing games and having fun while doing it. This can involve kicking a ball back and forth, throwing things, playing with a bowling set. He also loves music, and having adventures. He enjoys hotels, and taking walks in the evening with his dad. Riaan is the happiest child I’ve ever met. He recently just recovered from the flu, and even while sick, he was full of joy and bliss. He teaches me so much wisdom, every day. What a blessing he is.
N: Advocating for children and then enduring multiple medical appointments is mentally, emotionally and physically exhausting. When the advocacy is for your own child, and for a cause that impacts their life expectancy, I imagine that you can be fueled and feel diminished in the same moment. Has forming Riaan’s Research Initiative helped you breathe through the unknowns?
JO: To be honest, I find that managing Riaan’s illness by way of going to the doctor’s office is one of the most challenging parts of this experience. Most doctors do not know or understand this illness, and having to constantly remind them that while we also do not know everything, we know a lot more than they think. When they see that we run a foundation for the disease, it does change their perspective a bit but it’s unfortunate that is what it takes to be heard (and even then, that is sometimes not enough).
I am so grateful for Riaan Research Initiative. Through our work, we’ve learned the underlying mechanisms of Riaan’s disease as much as possible, and consulted with some of the most brilliant scientists in the world. We’ve also been able to launch multiple treatment efforts to find a cure for Cockayne Syndrome. Through the organization, we are constantly learning and improving, understanding various therapeutic modalities, and fine-tuning our efforts and priorities to ensure we are on the best path to a cure. Without the organization, I would be lost and in even more despair. Riaan Research Initiative is our incubator of hope and possibility.
N: While navigating the scientific research available for Cockayne syndrome, what inequities have surfaced?
JO: Research is so expensive, and the concept that rare parents, who are also struggling to pay their own bills, dealing with anticipatory grief, and taking care of medically complex children have to try to fundraise for millions of dollars because no one else in the research eco-system is willing to foot the bill is mind-boggling. There are so many rare and ultra-rare diseases, and we’re all on a treatment island of our own, trying to find the resources to cover the rent so to speak. If we don’t, our chances for our children go out the window. I worry constantly that while we have made great progress, and have begun quite a bit of work, what if we can’t raise the money to get to our end goal? What if the only thing standing in our way at the end to get treatment for Riaan is money, and not the science? Our goal is to raise about $4.2 million dollars to see through the Cockayne Syndrome gene replacement therapy program, as well as various drug repurposing screens (i.e. screening already existing FDA approved drugs to find out if one or more can alleviate the symptoms of the disease). So far, we have raised about $1.5 million. Fundraising has been even more challenging this year, likely because of so many external factors, but it does keep me up at night. Hopefully, we can get the ball rolling again. Riaan’s life, and that of so many other children, depends on it.
N: Throughout your career as a civil rights lawyer, you have advocated for accessibility in an ableist world for your deaf sister and witnessed racism because of the visible dastaar worn by your Sikh immigrant father. Do you feel supported by Sikhi and the Sikh community informed about Riaan’s disease? What more would you wish for?
JO: The Sikh community has been a wonderful source of grassroots support for us, both in terms of donors, as well as emotional support, love, and prayers for Riaan. We are truly grateful. I also want to thank Jus Punjabi for featuring us on two hour-long segments, and helping us explain rare and genetic disease to the Sikh community. My own father said that he had trouble understanding exactly what was going on with Riaan and what we were doing with Riaan Research Initiative until he saw the segment, which was in Punjabi. Dasvandh Network has also added us as an organization to support on their website, which we are grateful for.
To be fully honest, we are still struggling to make way with deeper pocket Sikh community members and prospective donors, and part of the issue may be trying to explain this whole process. People are not familiar with a model of parents raising significant amounts of money to develop treatments for a disease. I wasn’t either before Riaan’s diagnosis. However, we’re not just working alone, we have a strong team of scientific advisors, collaborators, research experts, including at the National Institutes of Health, and other parents of children impacted on our team. We have put together a strong, smart, and robust program, and all we need are resources!
Over the past year, I have seen greater visibility of Sikhs with disabilities. For instance, Baaz News did an entire feature on Sikhs with disabilities, which included the story of another Sikh mom of a child with a rare disease. I know we have a lot more work to do but I’ve seen a push among the younger generation especially to discuss disability issues more openly, call for more accommodations in public spaces, and this is encouraging.
N: Your partner Richie is a two times NYC marathon champion. On May 1, 2022 he will race for a cure. Where can we support him and encourage corporate sponsors to donate?
JO: Yes! Riaan’s dad is running a half marathon on May 1st! We are trying to raise $100,000 to continue to fund our programs. Every little bit counts! We ask people to donate at riaanresearch.org/donate. As we’ve learned, our work to find treatments and save Riaan’s life, and that of other children, is people-fueled, and it depends entirely on our sangat and our ability to fundraise.
It should not be the work of rare parents and caregivers to find a cure for life-limiting diseases. We must use our voices and support in whatever we have the capacity to do. Now that we have heard this story, let us make a difference and impact change. Please donate here.
Please share the Jus Punjabi segment in Panjabi to raise awareness and prompt donors to support this cause. Watch it here.
To learn more about the current research and upcoming studies, please visit Riann Research Initiative’s page.