Just days after a GoFundMe campaign was launched for a Bayside toddler diagnosed with a rare and fatal disease, the community banded together to show their support in the “fight for Riaan.”
Earlier this month, Jo Kaur and her husband Ritchie learned that their 15-month-old son Riaan was diagnosed with a neurodegenerative genetic disease that gives children an average lifespan of 3 to 5 years old. For privacy, the family chose not to disclose the name of the rare condition, which, according to his aunt Minou Kaur, went undetected during her sister’s pregnancy genetic screenings.
“It is so rare that it was not part of our pregnancy genetic screening — all of those results were negative. It impacts less than a few hundred children in the United States,” Kaur told QNS.
She added that “at some point, his progress will plateau, and then eventually decline.”
My beautiful baby boy – my life – my love – my everything – was recently diagnosed w/ a rare, ultra devastating, vicious & fatal neurodegenerative genetic disease & I can’t do anything to stop it. He only has a few years, they said.
Completely broken. Shattered. Shaking. Lost.
— Jo Kaur (@SikhFeminist) March 21, 2021
A few weeks after Riaan’s diagnosis, the Kaur family launched the GoFundMe with the title “Help Us Fight For Riaan,” which quickly began circulating on social media. At the time of publication, 221 donors have raised a total of $22,673 of the $25,000 goal. Kaur said that the family is “incredibly grateful for everyone’s support and prayers.”
“This is a devastating experience, and the strength, love and generosity of our community is what keeps us going,” she said. “No one wants to see a beautiful, vibrant, innocent baby like Riaan — or any baby — face such a severe diagnosis and a dramatic shortening of their life. It’s absolutely heartbreaking, and even more upsetting that while we have made many advances in medical research, we still have a long way to go in terms of achieving therapies for rare genetic diseases, most of which have no cure, including Riaan’s condition.”
Once the GoFundMe reaches its goal, Kaur said that the first step is to connect Riaan with top specialists that will provide him the best care he needs to manage his symptoms. In addition, Kaur said that the family is working with the city’s early intervention program that will provide Riaan with critical adaptive technology and therapies.
“We are trying to connect with as many researchers and scientists that we can find, as well as other parents or families who have gone through similar experiences to think about the best path forward,” said Kaur. “The ultimate goal is to find a treatment to delay disease progression, and of course to find a cure. We are very aware that the clock is ticking, and that drug creation can move at a glacial pace. We are also trying to balance all of this work with being there for Riaan and maximize his quality of life. We want Riaan to enjoy his life and have as many wonderful and joyful experiences as possible.”
According to Kaur, Riaan’s parents are in the early stages of understanding the ins and outs of genetic disease and have been working with scientists and organizations to find what treatments and therapies would be best in the push for a cure, including drug repurposing, ASOs and gene replacement therapy. But they found that they needed to move quickly due to Riaan’s diagnosis.
In their research, the Kaurs learned that the only viable solution may be gene replacement therapy, meaning that scientists would create a synthetic gene to replace the mutated one in Riaan’s body.
“However, when it comes to neurodegenerative disease that impacts multi-body systems and organs, there are enormous challenges, including figuring out how to cross the brain-blood barrier, safely deliver the synthetic gene to all of the tissues necessary and prevent an immune response from the body. Recently, this type of therapy has been proposed for Rett Syndrome. The path to a cure is long, challenging and maybe even improbable in our lifetimes but for Riaan, we must try,” Kaur said.
In the meantime, Kaur said that despite being “globally developmentally delayed,” Riaan “has continued to make good progress.” The 15-month-old’s family describes him as “a bright, alert, inquisitive and delightful child” who enjoys being read to.
“His laughter and smiles can melt even the coldest of hearts. He’s one of those kids who knows just how adorable and beautiful he is, and how to use that to his advantage. The wisdom in his eyes is striking. He absolutely loves Elmo and Sesame Street songs, and it makes us really sad that hearing loss is a part of his diagnosis,” she said.
As the family continues to raise money, Kaur said that people can follow Riaan’s story and progress at #PrayForRiaan on Twitter.
“If we all work together, and push, and help fund these efforts, we can create miracles,” Kaur said. “There are stories out there where research has been able to provide the treatment or cure a family has desperately needed. We are committed to that being Riaan’s story, and have faith in him and in scientists. We also ask people with genetic research or relevant experience to feel free to reach out to us if they wish to help aid our efforts.”
