The Sounds of Cockayne Syndrome

CS #LearnMore Series; Recruiting for the #RiaanArmy, CS Patient Registry, and More!

by Jo Kaur

Founder and Chair of Riaan Research Initiative

When Riaan was first diagnosed with Cockayne Syndrome (“CS”), on March 12, 2021, we had not only never met any other child with the disease, but had never even heard of it. Our experiences most likely match almost every other CS family on Earth. A few days after Riaan was diagnosed, I connected with a CS mom who helps run a support group for the disease. She generously shared a lot of information based on her wealth of experience: she had multiple children with CS Type II who tragically passed at very young ages. She also sent me some videos of her children. At this point, I was still in a state of traumatic shock, refusing to accept the situation at hand. However, as soon as I hit play on the videos, I heard the voice of her daughter, and instantly she reminded me of Riaan. She sounded just like him.

Last night, I spoke on the telephone for the first time with the mom of a child with CS who had passed away in 2007, at the age of 18. Her daughter had exceeded expectations, living longer than the doctors had expected. While we talked, the mom heard Riaan in the background and said, “Omg, he sounds just like my daughter did.” We both talked about how our children, in particular non-verbal CS children, make very distinctive sounds.

I had never heard these sounds before Riaan, in any other child. I used to think it was a cute Riaan-specific thing but now I realize it’s also very common in other CS children. I’ve Zoomed or met with a few other CS children who are non-verbal and also sound just like Riaan. I am not sure of the science behind it but it’s fascinating nonetheless, and one of the first ways we identify and recognize that unfortunately our children were diagnosed correctly.

Cockayne Syndrome #LearnMore Series

Earlier this week, we launched our new #LearnMore series, where we share more detailed research information about CS. Today, we shared findings from the first comprehensive survey of CS patients done in Japan, entitled Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis by Masaya Kubota, et. al. (2015). There are not a lot of natural history studies for CS but the few that we do have shed tremendous light on the prognosis of this disease in our children, and provide pathways for translational research.

There were two Type II (severe) patients mentioned in the survey, and interestingly, the paper included one of the first repeat brain imaging scans we’ve seen of a CS patient at different ages. The science can be confusing but even as a layperson looking at these images, it’s clear and shocking how much and how quickly the brain is negatively impacted by CS. The child referenced in the scans below passed away at the very young age of 7.

While brain atrophy and demyelination remain classic features of CS, many parents are more familiar with the calcification of the CS brain. Interestingly, as per a 2010 study, however, calcification alone may not explain how severe a patient’s symptoms may be.

"Overall, there was no strict correlation between the extent or severity of the calcifications and the age of the patients, the severity of their neurologic symptoms, or the degree of cerebral atrophy. Nevertheless, the largest calcifications were seen in the oldest patient of our series (patient 3, type III, CT scan at 44 years of age) in the dentate nuclei, the putamen, and the caudate nuclei. Additionally, a particular pattern of brain calcifications was seen in 4 of the most severely affected patients (3 patients with CS II and 1 with COFS).”

Still, brain imaging scans, research papers, and medical tests don’t always tell the entire story. Our children wind up doing a lot more than what professionals may expect from them, regardless of the severity of their diagnosis, and we parents have so many stories to tell. And tell we must. We know the full magic and potential of our children can only be realized upon meeting them, getting to know them, and loving them. (If you’re interested in sharing your story or your child’s CS story through us, please reach out at info@riaanresearch.org).

Riaan is a severe case (Type II), but here - at age 15 months - he repeatedly selects the same book, even when his father switches hands. He’s done this with books, songs, and toys since he was a year-old. He’s certainly a very decisive fellow.

Here's to defying the odds, to fighting the good fight. Join the #RiaanArmy and let's beat this thing. Together.

Recruiting for the #RiaanArmy

We’re looking for committed allies to help further our programmatic and development work! Take one or more actions below, use the hashtag #RiaanArmy on social media, and let us know how you’re helping!

We have $2.6 million dollars left to raise this year to fully fund the CSA gene replacement therapy program, including toxicology studies, manufacturing, Investigational New Drug Application costs, and hospital stays for the first patients treated in a clinical trial. We are raising an additional $100,000 to cover the cost of a new 2022 drug repurposing project: more details to come.

CS Patient Registry Questionnaire

Stay tuned for our upcoming patient registry questionnaire! Working with Sanford CoRDS, we have developed one of the most comprehensive CS patient registry questionnaires in the world, specific to our patient community. Once released, we humbly ask for your assistance in completing it on behalf of your child, alive or deceased. For those whose children have passed from CS, we are deeply sorry for your loss. We welcome your input and invite you to complete the questionnaire if you are able based on your child’s experiences during their lifetimes. The information in the questionnaire will be used to further research into developing treatments, and to raise awareness within the CS community. We will publicly share de-identified findings to better educate the public, patient, and research community.

As always if you wish to help support our efforts to build treatments, please donate at riaanresearch.org/donate.