Leading up to #RareDiseaseDay on February 28, NORD is sharing stories from patients and caregivers impacted by rare disease. This week, we are sharing Riann’ s journey with Cockayne Syndrome and his family’s wishes for the rare disease community. If you want to share your rare story in honor of Rare Disease Day, visit NORD’s website.
The love of my life, the scintillating, beautiful, sweet, majestic, adorable, brilliant, and hilarious Riaan – my two-year-old son, was diagnosed with a vicious and severe disease that few have ever heard of. It’s called Cockayne Syndrome. They discovered it in 1936, but there are no approved treatments or therapies. It viciously attacks almost every part of the body. It causes neurodegeneration, growth failure, vision impairments (cataracts and retinal degeneration), hearing loss, and developmental delays. The cruelty of the disease is difficult to conceptualize. Children with the severe type (Type II) have a life expectancy of five years whereas children with the more moderate type (Type I) live until their mid to late teens. It’s always fatal. We’ve launched the first exclusively research-focused effort to combat Cockayne Syndrome, a non-profit organization called Riaan Research Initiative.
It’s hard, painful, and traumatic. It changes you. We never thought it’d be us, none of us do. I know that I never thought about genetic disease and I never thought that my son Riaan – my firstborn and only – would be born with such a severe and fatal illness. I never thought that he may not even make it to elementary school. What parent thinks that? Especially if you get tested for everything, or think you do. We were naive. We didn’t know there are over 7,000 rare diseases, most of them genetic, and that most of them are never screened for during pregnancy.
Aside from the darkness, there are many moments of great joy on this journey. We love our son and enjoy every minute with him. We know that there are no caregiving or patient experience is exactly alike. There are parts you can get used to, but overall he’s still happy and generally stable, and he’s progressing at his own pace. You get used to the therapies, adaptive equipment, and interventions. You love and celebrate every moment of success. But then comes those moments where you must rush them to the hospital. They get sick and you don’t know what it means. Is this it? The fear and terror rise up because you don’t know what will happen next. Having to make difficult decisions about their life, about their quality of life – none if it gets easier, even the more you know.
The rare disease journey is difficult. We ask that you show us some love and patience. Show up and ask what we need. Be there for us, even if you may not know us well. Say our children or loved ones’ names, talk about them. Get to know them. Support our efforts to push and fund research. We’re doing everything we can to save our babies and we can’t do it without you. This work requires a global community, and that network must exist both within and outside of the rare disease patient and caregiver population.
To my family, health equity is access to medical care regardless of race, disability, immigration status, economic circumstance, and/or any other protected identity. Health equity is government and industry devoting significant resources to fund treatments for rare and ultra-rare diseases, including gene therapies, and recognizing that every child and every life matters, regardless of our patient population size. Health equity is lives over profit. Health equity is moving with the urgency our communities require.
For Rare Disease Day, Riaan and I will be painting our faces and posting photos online! We’re also pushing to get buildings lit up in NYC in honor of Rare Disease Day!
To learn more or get involved with Rare Disease Day, please visit NORD’s Rare Disease Day website.