Dear Friend:
Three months ago, on a late Friday afternoon, we were hit with the worst news a parent could ever receive. Our child, our sweet and beautiful baby Riaan, was diagnosed with a severe and lethal neurodegenerative genetic disease called Cockayne Syndrome. Frantically, we googled the name of the disease while the geneticist relayed the news, his voice shaking as he told us that the average life expectancy for Riaan's type is five years. We had never even heard of this thing. Indeed, most of humanity hasn't. It's so ultra-rare it impacts only a few hundred people in the world, if that. We felt devastated, shocked, terrified, and helpless. How could this have happened? We had prenatal genetic testing done and the results were negative!
It turns out Richie and I are both recessive carriers of mutations in gene ERCC8/CSA, which helps to repair damaged cells in the human body and is critical for survival. We passed both copies of the mutated gene on to Riaan, our baby, our firstborn, the love and light of our life.
We'll never forget the day and the long hours of the night when we received the diagnosis, the world shattered, the colors paled, a deep and profound sadness and horror set in our lives. For a month, I couldn't even say the name of the disease. The next few weeks led to a whirlwind of frantic calls to clinicians, to scientists, to support groups. Everyone was so kind and helpful. We learned, as is the case with most genetic diseases, that there was no cure. There were no treatments either. We felt helpless, suspended in an existence of pain and sadness, flailing around, feeling as if we had failed our son. We then decided to go public, not knowing what to do. Immediately, we were connected to the rare disease world, to parents, to advocates, rare disease crusaders as they are known, and we learned that we could fight, and how to do it. We also connected with parents of children with Cockayne Syndrome, some who have worked very hard to fund and push the research in years prior. We reached out to parents of newly diagnosed young children, as we are all connected, not by this horrific disease, but by our unwavering and profound love for our children, and our shattered hearts.
This is not an individual effort, this is a team journey. To create a cure, we must all collaborate, with open hearts and minds. We saw how quickly the research ecosystem moved to create a vaccine for COVID. We can move with the same urgency to save our children. Parents. Researchers. Scientists. Industry. Community. We know this. We also know the work is hard and not guaranteed. But the rewards - saving children, preventing generations of family trauma from perhaps the worst type of loss in the human experience - are unparalleled.
In the past three months, we have rigorously studied this disease. We have spoken to the experts, all of whom are so eager to help. We have created a plan. The good news? We can create a treatment, even a cure. It's called gene replacement therapy - scientists insert a healthy, functional CSA/ERCC8 gene into the human body - and hopefully it produces the protein that children with this disease lack and makes enough of a difference to halt the progression of the disease, and potentially even reverse some of the symptoms. The overwhelming news? It's going to cost a lot of money, take some time, and the ability to expedite the creation of the treatment depends on funding. But with the help of our broader community, we can do it. We can get to a human clinical trial. Others have done it. Why can't we do it for Riaan and other children who suffer from Cockayne Syndrome (CSA mutations)? So we decided we're going all in.
We are announcing the launch of our research organization, Riaan Research Initiative, to accelerate and fund gene replacement therapy research for Cockayne Syndrome (CSA mutations). We are working with the Horae Gene Therapy Center at the University of Massachusetts Medical School to research and develop a treatment to save Riaan's life, and that of other children with the same mutation. Our goal is to raise a million dollars by December, Riaan's birthday, to jumpstart and keep this program going. With gene therapy, the faster we can create and administer it, the better chance that it will work. Once neurons die, there is nothing that can be done to recover them.
This is literally a race against the clock. A matter of life and death.
Watch our launch video:
How you can help:
Visit our website: www.riaanresearch.org
Make a tax-deductible donation today (+ employer matching)! https://riaanresearch.org/donate/
Follow us on Twitter: @riaanresearch
Spread the word, and let's keep faith alive. Thank you for your kindness.
Warmly,
Jo and Richie
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Jo Kaur
Founder and Chair
Riaan Research Initiative
The future is here.
Let's end genetic disease today.