My baby boy has a serious, life-threatening illness. We've created a smart plan to help save his life and that of other children with his disease.
But we need your help.
(July 19, 2021) by Jo Kaur, Founder of Riaan Research Initiative and Riaan’s Mom
My baby boy is dying of a rare disease with no cure. My family and I have launched an extraordinary effort to save his life. We’ve founded a non-profit organization called Riaan Research Initiative with a goal of trying to save Riaan’s life and that of other children through the development of a treatment called gene replacement therapy. We’ve put together a top-notch scientific team, including a researcher and physician who conducted the first human gene therapy trials in the 1990s. We’ve brought together disease experts and gene therapy experts. But we need your help to see this through. Without your financial support, we won’t be able to create this miracle for Riaan.
2019 had been a rough year for us, even before the pandemic. My father had nearly died of a heart attack – indeed another hour and he would not have made it – but he pulled through after an emergency triple bypass surgery. He made it to my wedding a mere six weeks after his surgery, even while battling a rare blood disorder, discovered after his heart attack. Soon, I became pregnant with Riaan, the first grandchild on my family’s side, my first baby, the love and joy of my life. We felt it was the lifting of a dark time, the dawn of a new day after a period of significant hardship. Riaan was born in the winter, on a snowy night, at 3:33 am, the year of Guru Nanak’s 550th birth anniversary. He came into the world, screaming, crying, and looking as lovely and precious as could be. They said he was healthy, although a little on the smaller side. I was in love. I had no idea what to expect from motherhood but as it turns out, I’ve never loved anything more. In Riaan, I saw the divine.
The first thing I noticed about Riaan was the wisdom in his eyes, which took me back, because I did not expect to see that in a newborn. A few days after his birth, when we were supposed to be discharged, we received our first bit of bad, scary, medical news. Riaan had a bout of severe jaundice and had to stay in the hospital for overnight phototherapy. I had to leave the hospital without him, which was hard on a new mother. The next day, I practically ran back to the nurses’ lounge to take my baby home. We were then sent home, with a message from the nurse that I’ll never forget: “Feed him. And love him.”
And we did. Things went really well, at first. Riaan was feeding, and he was growing. He seemed well. Granted, the first few months were hard, but hard in a way that they are for every new parent. We had very little sleep, and a lot of responsibilities. Riaan wouldn’t latch, and I went through lactation consultants. He latched a few times, but overall, he would only drink from a bottle. So I pumped, all day. I pumped over nearly a year and a half before my milk supply diminished.
Soon after Riaan has born, I began to notice that he wasn’t grabbing objects, he never made eye contact with me, and his eyes seemed to be off. I told his pediatrician but she shrugged it off because he seemed to track her stethoscope with his eyes: “Give it time. Babies need a while for their vision to adjust.” I felt re-assured, but only for a moment. At around two months, I began to worry again. Riaan seemed particularly drawn to the light, especially on his changing table, which I thought was concerning. Almost like a moth to a flame. He was getting close to three months and there seemed to be no improvement in his vision. He began to cry, a lot. I thought he was colic, it turned out he was practically blind.
At around three months, the pediatrician looked into his eyes and said he couldn’t see the red light reflux that clearly. He said it was nothing to worry about and that Riaan was probably just near-sighted. We were scheduled to fly out of town, right before the COVID lockdowns. He told us to go out of town, and take Riaan to an ophthalmologist when we came back. I didn’t listen. I’m so glad I didn’t.
Within two days we were at the ophthalmologist’s office, and he told us Riaan had cataracts. Cataracts! How could a little baby have cataracts? Only older people get cataracts. He told us that Riaan had probably never seen our faces, and only saw a little bit of light. So that’s why he loved the light. We scheduled emergency surgeries, right in the heart of the COVID lockdowns in New York City, in March 2020. Riaan’s surgeries were successful, and he wears contacts now. The surgeon removed the lens in both of his eyes. We had to learn how to put contacts into his eyes, take them out a few times a week to clean them, and insert them back in. It was really tough and we could only do it while he was sleeping but now we’ve become professionals. At about five months, Riaan finally seemed to “awaken” to the world around him, and began to grab objects, smile and laugh at us, make eye contact, and interact. It was then we felt like he could finally see us. It was the most magical experience in the world. If we had waited to take him to the specialist, it could have caused more vision loss. We were elated by his improvement.
Our troubles were not over though. Riaan was hypotonic (low muscle tone), he continued to be small, and he wasn’t meeting milestones. He didn’t have good head control, he couldn’t sit, and he couldn’t crawl. We attributed all of this to the cataracts and the vision issues. Surely, over time, with early intervention therapies, we figured he would catch up. We also did a lot of testing during this period, blood testing, and genetic panel testing. Everything came up negative, except for one suspicious but not dangerous finding: mildly elevated liver enzymes. The neurologist insisted on doing an MRI. I pushed it off because Riaan had not reacted well to the anesthesia after his cataract surgeries and I didn’t want to put him through that again, especially if the results were only for diagnostic purposes and not treatment.
Finally, they had us do a whole exome-sequencing test in December 2020, a more detailed genetic test. The results took over three months. Looking back, we weren’t even that worried about it. They had already tested so much, surely we were in the clear? Indeed, a doctor had even told me that we were out of the realm of “fatal diagnoses.”
It turns out our nightmare was just beginning.
In March 2021, the results came back, and they were more horrible than I ever could have anticipated. Riaan was diagnosed with a fatal neurodegenerative genetic disorder called Cockayne Syndrome and given an average life expectancy of five years. We were completely shocked and devastated by the news. We had never even heard of this disease. While this particular disorder itself is rare, rare disease is not. Over 400 million people suffer from nearly 7,000 rare diseases across the world, and 80% of these are genetic in origin. We are all carriers of mutations that cause several different kinds of deadly diseases and not all of which are tested for during pregnancy (Riaan’s disease was not). And sometimes, we get deeply unlucky, and we pass them on to our children. In Riaan’s case, he received a mutated copy of the CSA/ERCC8 gene, which repairs damaged DNA and is critical to survival, from both his dad and me, giving him the diagnosis. My husband and I had received a copy of the mutated gene from one of our parents but as carriers, we are not impacted, since we have at least one good copy.
I’d never thought about genetic disease, or science, or medical research. I have no background in any of this. I asked a lot of doctor cousins, and they had never heard of the disease either. In fact most doctors haven’t because it’s not that common. We were told there was no cure, and that there are no treatments. Although the disorder was diagnosed in the 1930s, no treatments have ever been developed for it. But more on the research part in a bit.
Reading case studies at night, I learned how scary and terrifying this disease is, how it can do so many horrible things to the human body, to little babies. Part of what made all of this tremendously difficult was that it is a lonely and isolating experience, and there was no one to talk to. Although we were ushered to support groups by our doctors, we felt overwhelmed. It was also hard for me to see other families, and pictures of other children in much more advanced stages of the disease, or children who had already passed. It’s a very traumatizing experience.
I put out a message on social media, at the suggestion of an acquaintance, and soon connected with other Sikh moms in Canada, US, and UK, also raising children with serious genetic diseases. Another group of US-based Sikhs and I are also regularly meeting virtually and sharing experiences as well, all of us with very young children who either have a genetic disorder or another serious and complex medical situation requiring significant care. I have also found a community in recently diagnosed families of children with Cockayne Syndrome. Although we’re all facing different challenges, we have so much in common, navigating the world of care for our children, dealing with misconceptions from family and others. This little community we have created has given me a lifeline in a time of great pain and tragedy.
Riaan is now 19 months-old. He has 12 therapies per week. He has significant doctor’s appointments just to track his progress and manage any symptoms. He is smart, super aware, hilarious, loves to be read to, and continues to progress. He communicates by making choices and touching things he wants. Today, he can sit with support, and only for a short period independently. He can stand but only with support. He can do a swim/army crawl. He cannot walk or talk, and he only eats purees, although he can nibble on some crackers and snacks. He has acid reflux, and gains weight very slowly. He is still progressing but we know we don’t have a lot of time. His disease is neurodegenerative, and impacts every body system. Riaan may lose his vision, his hearing, his liver or kidneys may fail, and he could have a stroke or seizure, or pneumonia. His brain is rapidly calcifying. His myelin sheath, which protects the brain, is deteriorating. He may need a feeding tube down the road if he cannot gain weight on his own.
After we received Riaan’s diagnosis, after hours of vomiting and crying, I woke up in the middle of the night and got to work. I emailed every expert I could find. Surely, there had to be something we could do. I wasn’t getting very far, and decided to share Riaan’s story publicly despite not wanting to acknowledge that this was our reality. I soon connected with experts, scientists, and the rare disease community. We have now put together a plan – working with the University of Massachusetts Medical School – to create a gene therapy for Riaan and other kids with his mutation. Essentially, the goal is to replace Riaan’s mutated gene with a healthy copy, transmitted to the body by way of a harmless virus. Science and technology are magic. It’s incredible what we can do nowadays.
The catch? Because Riaan’s disease is so rare, pharmaceutical companies and other institutions are not funding the research and development of treatments, even though they exist. It’s up to parents like us, and communities like us, to fund the development of a treatment. The overall program will cost $3-$4 million dollars. It will occur in phases, with the first part testing the therapy on mice with the same mutation as Riaan to make sure it works. We aim to raise $1 million by December 2021 to jumpstart the program, and take it from there.
It’s completely possible, and if we get Riaan the treatment in time, we can potentially save his life, and that of other children. This is why we are fighting so hard. This is why we have so much hope. The science exists.
A few weeks after Riaan was diagnosed, I had a vivid dream about us hiking and climbing a mountain together. Riaan was tall, he towered above me, his mother. As he gazed out over the summit, toward the sunset, and across the desert, I stared at him, fondly, and thought, “My boy made it. He made it.”
Donations are tax-deductible, and can be made on our website. We also offer employer matching:
www.riaanresearch.org/donate/