“But make no mistake, this is an excruciatingly lonely and isolating experience. Most people, including our extended families and personal networks, will never fully understand, and why would they? There’s a reason it’s called rare, and in our case, ultra-rare disease. But by telling our stories, maybe, just maybe, the people that can make the difference will finally hear us.”
— Jo Kaur, Founder, Riaan Research Initiative
Dr. Karen Jiang, a medical doctor, is a Scientific Advisory Board member of Riaan Research Initiative, and her husband, Hoong Chuin Lim, a scientist, is also an advisor to the organization. Karen and Hoong are the parents of identical twins Noah and Marcus, both diagnosed with Cockayne Syndrome.
They share their family’s emotional story, starting from Karen’s difficult pregnancy to obtaining a diagnosis for their children in this guest blog post, and also discuss why they support Riaan Research Initiative and the organization’s efforts to accelerate the development of treatments for Cockayne Syndrome:
“Every family has their own unique vision for what research means for their children diagnosed with Cockayne Syndrome. For us, we would love to have as much time with our boys as possible.”
— Dr. Karen Jiang, mom of twins Noah and Marcus
The outstanding Olive Mae Marquez, daughter of Brianna and Christian Marquez pictured above, has been diagnosed with Cockayne Syndrome Type I. Brianna shares Olive’s journey to a diagnosis in a guest post with Riaan Research Initiative.
The woman on the other end, from the geneticist’s office, told us that they found out what’s going on with Olive, and that the test came back with results.
I said, “There’s no mitochondrial disease, right??”
“No, there wasn’t.”
My husband and I exclaimed in joy, relieved.
“But we did find something else…”
The air got quiet. Okay, what is it?
“Your daughter has a very rare genetic syndrome.” My heart started racing, my husband and I became deathly silent.
Jo Kaur, the Founder and Chair of Riaan Research Initiative, and Richie DiGeorge are the proud parents of Riaan, who has been diagnosed with Cockayne Syndrome Type 2 and is the inspiration for this organization.
Jo shares her personal reflections about diagnosis day, including not being able to say the words Cockayne Syndrome out loud, and figuring out how to move forward in this blog post and others.
“That night was the worst one of my life. I cried and cried, I had multiple panic attacks, I vomited repeatedly. I didn’t sleep through that night. I woke up in a panic. At 2:00 am, I hit Google.”
— Jo Kaur, Riaan’s Mom.
We would love to connect with family members and caretakers impacted and affected by Cockayne Syndrome who wish to share their stories, fellow rare disease advocacy organizations, private foundations or corporate donors, and members of the media who may be interested in bringing awareness to our work.
We’d also love to work with members of the scientific and research community with a shared goal of furthering research on Cockayne Syndrome. Additionally, if you’re interested in helping us fundraise by hosting events or conducting other activities, please reach out!