Meet Jo Kaur and Richie DiGeorge, parents of Riaan, a vibrant 5-year-old boy who has Cockayne syndrome, a rare and debilitating genetic disease. In this podcast episode, Riaan’s parents take listeners on an emotional journey through their lives. They reflect on their darkest days, their resilience, their small victories and their enduring hope.
“I don't know where we would be if we didn't have this hope on the horizon.”
What is Cockayne syndrome?
Cockayne syndrome is a rare, neurodegenerative disease that largely affects children and young adults. The disorder is characterized by short stature, an abnormally small head size (microcephaly) and neurologic abnormalities that can lead to intellectual disability.
Richie DiGeorge carries his son, Riaan, on his shoulders. Photo: Bryan Goodchild
Riaan Photo: Jo Kaur
Riaan smiles during physical therapy session with Alexandra Capolla, DPT. Photo: Bryan Goodchild
Riaan plays a balloon toss game with his physical therapist. Video: Bryan Goodchild
Riaan and his mother, Jo Kaur, smile for a selfie. Photo: Jo Kaur
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To learn more about the Riaan Research Initiative, visit the foundation’s website at:
Cockayne diseases resources and support
National Initiative for Cockayne Syndrome
The Cockayne Syndrome Foundation
National Organization for Rare Disorders
Translational Institute for Molecular Therapeutics at UMass Chan Medical School
Viljem Julijan Association for Children with Rare Diseases
Private Facebook Support Group for Families:
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Transcript – Riaan’s story
This transcript was created using speech recognition software. While it has been reviewed by the Office of Communications, it may contain errors.
[MUSIC]
Jennifer Berryman
Rare Diseases, Real Stories is a special podcast series.
It is about children living with rare diseases and their parents.
Blyth Taylor Lord, The Courageous Parents Network
In 1999, a diagnosis of infantile Tay Sachs was 100 percent a death sentence
Jo Kaur, Riaan Research Initiative, Riaan’s mother
It was a journey that ended with the result we never saw coming.
Jennifer Berryman
It’s about the transformational power families wield in moving rare diseases research forward.
Lee Greenwood, Noa’s father
It’s a community that relies on each other.
Jennifer Berryman
Each episode is about courage, perseverance.
Linda Pham, Raiden Science Foundation, Raiden’s mother
As parents, we are going to fight with him till the end.
Tommy Pham, Raiden Science Foundation, Raiden’s father
Gene therapy—it provides hope.
Jennifer Berryman
Hope AND Love.
Lori Greenwood, Noa’s mother
I’m going to tickle you.
[SOUND OF LITTLE GIRL LAUGHING]
Lee Greenwood, Noa’s father
There is something about Noa that sparkles. It’s infectious.
Jennifer Berryman
Each family battles bravely on the front lines when every moment counts.
Lori Greenwood, Noa’s mother
She is doing things that we never expected her to do.
Jennnifer Berryman
I’m Jennifer Berryman. I’ll be your host.
This is a production of UMass Chan Medical School.
[MUSIC]
Riaan’s story begins
Jo Kaur
He’s fascinated by the world around him, for sure
Jennifer Berryman
On an unseasonably warm autumn day, in the Oakland Gardens neighborhood of Queens, New York.
[SOUND OF LEAVES CRUNCHING]
Jennifer Berryman
We met Jo Kaur, her husband, Richie DiGeorge, and their two boys, Riaan and Lu.
Jo Kaur
Grab the branch, oh nice.
Richie DiGeorge
I think a lot of the leaves are gone, but you can still grab some.
Jennifer Berryman
On a small hill behind their home, Richie grinned as he lifts an almost five-year-old Riaan onto his shoulders. Jo looks on with a gentle smile and keeps her sight on Lu.
Richie DiGeorge
What are you doing, you silly banana? What are you doing, you silly fish?
Jennifer Berryman
Moments like this are extra special. In a few weeks, Riann will turn five, a milestone they once feared.
Jo Kaur
He’s still progressing, and he’s still vibrant and aware, and so we are hopeful that we have much more time than we were originally told.
Jennifer Berryman
Inside their home, hope mingles with the rhythms of busy family life—a blend of cheerful chaos.
Jo Kaur
Just bring some toys like a ring.
Jennifer Berryman
Stacks of toys. Stuffed animals. Picture books. A lock on the toilet seat to keep 2-year-old Lu out of trouble. But when we looked a little closer, we saw clues into their unique story, a journey that began right after Jo and Richie got married in 2019.
Jo Kaur
Riaan is our first-born son. The story of Riaan is, in many ways, a story of our marriage. Maybe a week after we were married, I was pregnant with Riann. Riaan was born in December 2019 and during the pregnancy, at first, things were going really well. And shortly before he was born, there were concerns that he was measuring small, and we did not know what was going on. And the doctors told us, you know, do not worry. Some babies measure small. Everything else looks good. And when he was born, he was born healthy. We certainly did not think about genetic diseases. We had him tested. We had done all the pre-screenings that they offer and nothing had come up for us.
Richie DiGeorge
He looked extremely healthy, even though he measured small. (Riaan making noises)
Jennifer Berryman
Riaan’s vision was the initial concern.
Richie DiGeorge
He just saw the light that was coming in
Jennifer Berryman
An ophthalmologist diagnosed cataracts, and he had two surgeries.
Jo Kaur
We never even heard of a baby having cataracts, and that they were in both eyes and that we needed to operate immediately because he was at serious risk of losing his vision because his vision had not developed.
Jennifer Berryman
This was all unfolding in March 2020 just as the world was shutting down.
Jo Kaur
I’ve never prayed so hard in my life.
Jennifer Berryman
At this point, you have no idea, though, that that’s not really the issue.
Jo Kaur
Yeah, we didn’t realize that that was the least of his problems at that moment, right?
Because after the surgeries—they went well, thankfully—he had a little bit of a recovery period. But he’s a kid, you know? It happens. We did genetic testing, so the doctor said, usually if there’s bilateral cataracts of both eyes, that’s an indication of genetic disease. So, we went to the geneticist, and they did a microarray analysis
Jennifer Berryman
So, you still didn’t get the answer?
Jo Kaur
Still didn’t get the answer. We remember going to the ophthalmologist, and they were like, “Everything’s fine. It could just be,a random thing that happens, and he’ll develop normally.”
Jennifer Berryman
For months, his parents were convinced Riaan’s developmental delays were due to his vision loss. They pursued blood tests. They consulted specialists. While some results were slightly off, no one had pieced everything together.
How did the diagnosis come, and when and how?
Jo Kaur
It was a long journey to a diagnosis, and it was a journey that ended with the result we never saw coming.
The neurologist finally pushed us again. He’s like, “You need to go back to that geneticist.” And we went back, and they did a whole exome sequencing. And we had never heard of this test before. We were not even worried about it to be frank, they told us it would take three months. So we’re like, okay, three months, you know, we’ll wait. Life went on. Riaan was making progress. The day Rian turned 15 months—so, March 12, 2021—we had a meeting with a geneticist, and we knew something was wrong from the day before, because they’d emailed us, and they said, “We need to have a telehealth with you.”
Richie DiGeorge
The tone was very different. We’re like, okay, is there anything we need to know? The doctor will talk to you tomorrow.
Jennifer Berryman
So, you went into that conversation braced, terrified.
Jo Kaur
We were scared.
Richie DiGeorge
We were scared.
Jo Kaur
So, right away, he says, “We know what’s going on now with Riaan, and it’s not good. I’m so sorry.” And we’re like, what are you talking about? And he’s like, “He’s got this disease called Cockayne syndrome. He came back positive.”
And we’re like, what? I had my phone because the telehealth was on. I was on my computer, and I was frantically Googling. The images that came up when you first Google—especially at that time—the kids did not look anything like Riaan. You know, he was—I mean, of course, they show a lot of images of children with later stages of the disease—but Riaan was a healthy, small, vibrant boy. He was making progress.
And I didn’t—I’m like, no, this can’t be right.
Jennifer Berryman
Was that even in your vocabulary or in the realm of possibility?
Jo Kaur
He said he’d only heard of one case in his whole career, and then he told us that it was fatal. And we were like, what? Crying. I asked him, well, what’s the life expectancy?
He really paused—he didn’t want to answer. And then he said, “Well, we think that Riaan has a more severe case because of the fact that he had cataracts when he was so young, his smaller size, his inability to sit, stand, walk or talk at that point.
You know, based on those more severe physical mobility issues, he said, “There are different types, and we think he’s Type 2, which is the most severe. The life expectancy for those children is five years.”
Richie DiGeorge
And he didn’t even tend to really know much about it either.
Jo Kaur
I felt like we were sort of kidnapped and transported to another, completely different world, where, although everything looks the same, we weren’t the same. We knew everything was different. And how do we even live here? I couldn’t even look at Riaan at first. I couldn’t, I couldn’t, I didn’t want to be near him. I was so, I was so ashamed. And I felt so much guilt because we know it’s not our fault. Intellectually, we understand it’s not our fault these things happen. But I felt like, as a mother, I failed him, like I couldn’t protect him as I was supposed to, when he was born, I said to him, Riaan, I’ll do everything in the world to protect you. And I, I felt like we couldn’t.
Richie DiGeorge
I’m just thinking the whole time, you know, What did we do? How did we go wrong?
Jennifer Berryman
So, how do you guys begin to wrap your hands around this and process this news and you make a decision to do something.
Jo Kaur
I started Googling, and I started researching the disease, and I was trying to get my hands on scientific papers. I started reading and trying to learn everything I could.
Jennifer Berryman
They learned that Cockayne syndrome is a rare and fatal neurodegenerative disease that largely affects children and young adults. It causes a failure in the body’s DNA transcription and repair process, resulting in stunted growth. Many children with Cockayne will have developmental delays in addition to vision and hearing problems.
Jo Kaur
I started emailing scientists on the papers, and I just sent out these cold emails. I didn’t know if anybody would respond, and I was surprised so many did. And they were willing to meet and set up a Zoom right away, because I was trying to figure out, Is there a treatment? Can we fix this thing? You know, what’s going on with the state of the research? How do we address this, and what can we do as parents?
Jennifer Berryman
You start hearing back from scientists. And does that lead anywhere?
Jo Kaur
I’d set up meetings, so I had a lot of Zooms. Thankfully, Richie was there. My parents were there to take care of Riaan, because I was just sort of preoccupied with nonstop Zooms and trying to learn everything we could about this disease. So, and these scientists—some of them who are now on our scientific advisory board—they were tremendous. They were sort of able to simplify concepts. I’d met another dad who had done significant research 10 years ago. His daughter is older, with CS. She’s 30, and he was like, “Take notes of everything that the scientists tell you, these folks know a lot, and you’re not going to be able to digest it all in a Zoom. You need to just take vigorous notes and be able to go back and learn.” And that was the best advice. I realized that there wasn’t really much, from sort of a therapeutic standpoint. No one was pushing or advancing therapy in sort of an urgent way at that time, but still, we didn’t know what to do. We never thought okay, it’s our place to go in and sort of advocate for gene therapies or drug repurposing or any of those other programs, until we shared our story publicly.
Then I had parents educate me, and they were like, “These are the possibilities. You can push for gene therapy, depending on if that’s appropriate. There’s drug repurposing. There’s gene editing, but that’s sort of down the road. It’s not clinically relevant at the moment.”
Jennifer Berryman
A Harvard researcher encouraged Jo to connect with Dr. Terence Flotte—an internationally known pioneer in gene therapy research at UMass Chan Medical School. Dr. Flotte is provost and dean at UMass Chan. In 1995, he led the first human trial of adeno-associated virus or AAV to deliver corrective genes to targeted sites in the body. Three decades later, he’s still driving advancements in gene therapy research to develop treatments for a range of rare diseases, Tay-Sachs, Canavan disease and Cockayne syndrome.
Jo Kau
There were two really big, groundbreaking moments on this journey. There was the first one where we had a university say, “We are interested in pursuing a gene therapy. We’re interested in working with you. We were interested in advocating for a treatment.”
Jennifer Berryman
In October 2021, seven months after Riaan’s diagnosis, UMass Chan entered into an agreement with Riaan Research Initiative to fund, research and develop a gene therapy replacement to combat Cockayne syndrome.
But that agreement would not have been possible without the second big groundbreaking moment.
Jo Kaur
And then the second one was when we met this organization called Rare Village Foundation, and they provide sort of a fiscal sponsorship to parents starting out just like us, so that way we could raise money, but under their umbrella, so we could immediately start and give tax exemption to our donors, allowing us to fundraise quickly while we waited to set up our own organization and to set up our own 501CS, status. We were able to start right away. We started fundraising, and we organized Riian Research Initiative in three months.
Jennifer Berryman
You have had remarkable fundraising success. How have you managed to do that?
Jo Kaur
The question of the year, right?
Richie DiGeorge
When we were going through the process of everything, and we were like, wow, we’re going to need to raise so much money. And I remember one night, I was just looking at you, I’m like, how are we going do this? Like, this is insane. This is so much money. And she just looked at me and said, “We don’t have a choice. We have to do this. This is something that we need to do.”
Jennifer Berryman
Did you know at that time how much you had to raise?
Richie DiGeorge
We had a ballpark estimate of how much we needed, but thinking about how we’re going to get to that point, it seems almost impossible. But the way Jo said, “We don’t have a choice. We have to.” And I just nodded at her and said, yeah, you’re right. We have, we have to figure out a solution.
Jo Kaur
So initially, we had a lot of great success from our own network. We tapped friends, family, work connections, everybody.
Jennifer Berryman
In short order, they raised about $40,000 toward their goal of $1 million.
Jo Kaur
I think Riaan’s magnetic personality. His beautiful face. I mean, I really think he’s the driver of all of this.
[SOUND OF RIAAN BABBKING WITH HIS PHYSICAL THERAPIST]
Wanna show off all your stuff. Oh, head up, head up, head up.
Alexandra Capolla, DPT
We’ve been together about four months at this point.
Jennifer Berryman
During our visit, Riaan’s physical therapist arrived for a home session. The vibrant personality Jo and Richie talked about was on full display. Riaan was lighting up the room. While Riaan can’t speak with words, he has no hesitation expressing his emotions.
[SOUND OF RIAAN'S PHYSICAL THERAPIST SPEAKING TO RIAAN]
Yes, smiley boy!
Jennifer Berryman
Riaan’s personality and story has certainly impacted the fundraising efforts of the Riaan Research Initiative. The foundation was set up in June 2021. By August, they had raised $40,000. Their fundraising goal was just over $1 million. That’s when they received an unexpected email from their largest donor yet.
Jo Kaur
So, this donor asked us, “How much do you need?” And we’re like, we’ve raised $40,000.
Richie DiGeorge
I said, even like $10,000 we’re going be like, this is great, you know. And that’s all we were really at first expecting.
Jo Kaur
They donated $960,000. We were just blown away. And they were like, “We know that your lives are really hard right now, dealing with the diagnosis. We want to make it a little bit easier for you. We want to make this a real possibility for you.” We couldn’t believe it. We didn’t know this donor. We couldn’t believe it. We were telling our families, like, how could this happen? And that’s what gave us the confidence to keep going. This is a real chance at a treatment. People step up, and more people want to help.
Jennifer Berryman
By the end of 2024, the Riaan Research Initiative had raised $3.5 million.
Jo Kaur
And our biggest, of course, signature program is funding the Cockayne syndrome gene therapy program at UMass Chan Medical School. And so far, you know, we’re very much on our way to our first hopeful clinical trial. You know that we’ve finished, we fully funded the preclinical work, which was successful. We’ve established proof of concept. The gene therapy works in the mice. Mice are not people, but there’s great sign that it’s working very well, definitely.
Richie DiGeorge
Definitely pointing in the right direction for everything.
Jo Kaur
UMass Chan signed a contract with Andelyn Biosciences, and they’re currently manufacturing a clinical grade product of the gene therapy and parallel we’re also doing toxicology studies.
Jennifer Berryman
They’re hoping the FDA will give the green light for a first-in-human clinical trial sometime this year.
And just to clarify that, so your hope is that Riaan will be the first person to get this experimental gene therapy?
Jo Kaur
That is our hope. Yes. And then hopefully after that, if it is successful in Riaan, that we can provide it to, or UMass Chan can provide it to, other children as well that are impacted by this disease.
Jennifer Berryman
Do you have to stop and like, remind yourself sometimes that you’ve actually done all this and come this far it?
Richie DiGeorge
It’s, it’s kind of surreal.
Jo Kaur
I feel so blessed and fortunate, because this is not a chance that most parents in our situation get, and we recognize that not everyone is able to pursue these types of opportunities, push this type of research, spend time fundraising. It’s a lot of work, and managing a child with a severe illness from day to day is very difficult, dealing with the grief. We’ve adapted over the years, but the grief is ever present.
Jennifer Berryman
But he’s about to turn five, which is what that first doctor told you. How do you think about the future?
Richie DiGeorge
Once we got the diagnosis, I’m like, this is the age we never want Riaan to get to, you know, I said, just stay two years old. Stay three years old. Don’t, don’t ever get to that, don’t ever get to that age. And, I used to always think, and I used to say, oh, you know, you know, we don’t want to get to that curse stage. We don’t want to get to five.
Jo Kaur
So sort of the way this disease works is there’s progression, there’s a plateau and then there’s a decline. He’s still progressing, and he’s still vibrant and aware, and so we are hopeful that we have much more time than we were originally told, and we’re operating in that way. I don’t know where we would be if we didn’t have this hope on the horizon.
[SOUND OF FAMILIY AND FRIENDS SINGING HAPPY BIRTHDAY TO RIAAN AT A PARTY IN DECEMBER OF 2024]
Jo Kaur
We’re still in the middle of this. We don’t know where this is going to end up, but we just keep pushing it one step at a time.
[MUSIC]
Jennifer Berryman
We’d like to extend our heartfelt thanks to Riaan’s family, Jo, Richie, Riaan and Lu, and to the researchers in the Translational Institute for Molecular Therapeutics at UMass Chan Medical School who are advancing research into Cockayne syndrome.
For more information about the Riaan Research Initiative, go to Riaanresearch.org
In our next episode, we will bring you the family of Raiden Pham.
Linda Pham, Raiden’s mother
Honestly, seeing him stuck in his body and he wants to move. You can tell. You see it in his eyes, but he can’t. And as a mom, it’s just the hardest thing to see, I can’t.
Jennifer Berryman
Raiden lives with another ultra-rare condition, UBA5.
His family is not only battling daily challenges but leading a powerful fight to raise awareness and funds for gene therapy research for his condition.
Join us as we share their journey.
Rare Diseases, Real Stories is a production of the Office of Communications at UMass Chan Medical School. It was conceived of and produced by Sarah Willey.
Bryan Goodchild produced, photographed and edited the episode.
Dan Lambert and Samuella Akaab designed our graphics.
Joanna Alizio and Rey Gonzalez developed the website.
It’s also produced and hosted by me, Jennifer Berryman.
[MUSIC]
If you like what you’re hearing follow and subscribe to Rare Diseases, Real Stories wherever you get your podcasts. And it to read or listen to every episode in this special series, visit umassmed.edu/rarediseasesrealstories.
You can also email us anytime at AdvancingTogether@umassmed.edu
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