Two-year-old Catherine Radivilova’s story is as unlikely as it is amazing. While pregnant with Catherine, Tamara Radivilova and her son fled their home in Ukraine in the days following Russia’s invasion, while her husband stayed behind to fight in the war. For the first nine months of her life Catherine developed as expected, but after symptoms arose and setbacks occurred, Catherine was diagnosed with Tay-Sachs disease, a fatal genetic disorder.
“I thought, well, if we're going to possibly do this, we're going to have to do it through some intervention, divine or otherwise.”
Through an unlikely series of events, Catherine and her mother found themselves in the U.S., where Catherine became the final participant accepted to a UMass Chan gene therapy clinical trial for Tay-Sachs. Despite ongoing challenges, Tamara Radivilova’s resilience and love shine through as she fights for her daughter’s future.
What is Tay-Sachs disease?
Tay-Sachs disease is a rare genetic disorder that destroys nerve cells in the brain and spinal cord. It’s caused by the absence of an enzyme that helps break down fatty substances, called gangliosides, which, without the enzyme, build up to toxic levels and impact the function of nerve cells.
Tamara Radivilova holds her daughter, Catherine, in Brussels. Photo: Jennifer Berryman
Catherine, 2, undergoes physical therapy at home in Brussels. Photo: Jennifer Berryman
From left, a physical therapist, Catherine and her mother, Tamara Radivilova, during a therapy session. Photo: Jennifer Berryman
A close-up of Catherine’s hands. Photo: Jennifer Berryman
A physical therapist stretches Catherine’s leg during a session. Photo: Jennifer Berryman
Tamara Radivilova kisses her son, Dmytrii, in their kitchen. Photo: Jennifer Berryman
Tamara Radivilova takes her daughter, Catherine, for a walk outside. Photo: Jennifer Berryman
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To learn more about Tay-Sachs disease, patient advocacy and research, visit:
UMass Chan Medical School
National Tay-Sachs & Allied Diseases Association
Cure Tay-Sachs Foundation
Blu Genes Foundation
The Mathew Forbes Romer Foundation
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#RareDiseasesRealStories, #RareDiseases, #podcast
Transcript – Catherine’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]
Host 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
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
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]
Jennifer Berryman
Of all the families you will meet in this series, none has a simple story. Each reflects what happens to families after a serious medical diagnosis. There is forever a before and after, when they’re been launched into a rollercoaster ride they would never have chosen. There are highs and lows. Twists and turns. And not much control. But no story is more improbable or unlikely than that of baby Catherine.
[SOUND OF CATHERINE'S MOTHER TALKING TO CATHERINE]
Tamara Radivilova, Catherine’s mother
I’m Tamara Radivilova. Yeah, I’m Catherine’s mom. She has Tay-Sachs disease. I was born in Ukraine, in Kharkiv, it’s near the border with Russia. My husband is from Kharkiv too. Dmytrii was born in Kharkiv, too.
Jennifer Berryman
But today, Tamara; her parents; her 10-year-old son, Dmytrii; and two-year-old baby, Catherine are living 1,600 miles from home.
Oh really, it reminds you of Kharkiv?
Can you take us back to how you first heard about Catherine?
Terence R. Flotte, MD, the Celia and Isaac Haidak Professor, executive deputy chancellor, provost and dean of the T.H. Chan School of Medicine
This really is a very remarkable and unique story.
[MUSIC]
Jennifer Berryman
Tamara’s husband, Catherine’s father, is fighting for Ukraine in its war against Russia. Just one week after the war began in late February 2022, they had a decision to make.
Did you know right away that you would have to leave? How did you make that decision?
Tamara Radivilova
Because our city, it’s near the border of Russia. It was bombing in our house. Our window was broken by the bomb.
[AUDIO OF TV CLIP FROM BOMBING]
Jennifer Berryman
Tamara was pregnant with Catherine at the time. She, her mother and then-8-year-old Dmytrii stepped onto an evacuation train, their final destination unknown.
Jennifer Berryman
Where did the evacuation train go?
Tamara Radivilova
Yeah, in evacuation train. We thought that we should to go to Uzbeks, but this train go to Chernobyl. It’s on the west of Ukraine, yeah, not far away from Lviv. And on the next day, we are going to Slovakia. And then the 8th of March, we come into Brussels, and we are going to this center for refugees.
Jennifer Berryman
In Brussels, they were getting settled and making a new life.
The pregnancy was good. Everything was good.
Jennifer Berryman
Catherine was born in September 2022.
Tamara Radivilova
She’s doing everything that’s as a baby doing. So, everything was good till July. In July, it started, starting something strange. She started to be weak.
Jennifer Berryman
Tamara chalked it up to Catherine feeling tired or lethargic in the hot summer weather. Catherine’s symptoms persisted, but two doctors told them everything was fine. Then Tamara took Catherine to see a pediatric neurologist.
Tessa Wassenberg, MD, PhD, Vrije University, Brussels
So, Catherine was referred to our university by one of my colleagues, who also works in a local hospital, who had a suspicion of a neurodegenerative disorder because she was doing less well than before and losing skills.
Jennifer Berryman
Tessa Wassenberg is an MD, PhD, neurologist in Brussels. She examined Catherine, did an MRI and before the results of genetic testing came back was confident she was looking at a child with Tay-Sachs disease.
Tessa Wassenberg
We know that Tay-Sachs is a very devastating disorder, the infantile form of Tay-Sachs is really, well, is not treatable at this moment. So, it’s really a hard diagnosis to give to the families to give to a child.
Jennifer Berryman
Dr. Wassenberg wasted no time looking for clinical trials that might help Catherine. And she found one, led by Terry Flotte, a world-renowned gene therapy researcher and physician at UMass Chan Medical School.
Terence Flotte
I got an email from a child neurologist in Brussels, Dr Tessa Wassenberg, and she described a patient who turned out to be Catherine, who was very recently diagnosed.
Jennifer Berryman
Timing would be everything. Dr. Flotte was leading a clinical trial investigating if gene therapy that might help arrest Tay-Sachs in young children. The trial criteria were strict. Babies had to be less than 20 months old at the time they would get the therapy. He could only accept nine patients in total. And after each patient received the gene therapy, the Food and Drug Administration requires that data be analyzed before another child can be dosed.
Terence Flotte
It takes at least six weeks after we treat a patient before we can open up to another patient.
Jennifer Berryman
But every week that passes can mean a child who might otherwise qualify for the experimental gene therapy deteriorates or ages out.
Terence Flotte
So, what that means is that there’s a tight window. The diagnosis has to be made young in life, that the information has to come to us pretty quickly, and then we have to be able to determine if the infant can meet the inclusion, exclusion criteria, which we’ve tried to make as broad as possible, but want to be sure we wouldn’t put a patient through this if they were beyond a certain point of progression where they wouldn’t realistically be expected to benefit from it in anyway. What we’ll have to do is kind of quickly evaluate the patient. Have to see them. And it seemed like it would be even more complex in this case, because of their unusual personal circumstances. So they’re dealing with a lot to then have this possibility of an invasive type of administration of a gene therapy put on top of that. So I really felt like we needed to have some really in depth conversations, and we were worried, because there they were, like Ukrainian nationals in Belgium. How are they going to get from Belgium to the U.S.? And it was really—whether you want to call it incredible luck or fate, or, you know, a blessing, or however you think about that—it was some incredible circumstance that I was due to be traveling to Brussels about 10 days from that time when we decided and I was going there for the European gene therapy meetings, European Society of Gene and Cell Therapy. And so I contacted Dr. Wassenberg and said, is there any chance we could arrange a meeting?
Jennifer Berryman
And when you saw Catherine, what did you think?
Terence Flotte
Well, it was you know, she was in remarkably good shape, and I think for a child with infantile Tay Sachs, and that’s what we really look for, one that has a fully proven diagnosis, that we’re able to get into that critical window when they still have functions that we can help them hold on to. But the visa issue was the was overriding issue, and I will say that, you know, we just didn’t know if there was any remote possibility that we could work out a visa given this very tight time constraint. But then, you know, I thought, well, if we’re going to possibly do this, we’re going to have to do it through some intervention, divine or otherwise.
Jennifer Berryman
From the airport in Brussels, Dr. Flotte went in search of that intervention. He called Massachusetts Congressman Jim McGovern, whose district includes UMass Chan Medical School.
Terence Flotte
I was able to get him on the phone personally and explain the situation. And he said, “Well, let my team work on that.” I think I was talking to him on a Saturday or Sunday, depending on what continent you were on. And then it turned out that by Monday, by the end of Monday, we had the emergency medical visa approved.
Jennifer Berryman
It wasn’t the first or only almost unbelievable turn of events. Not only was the emergency medical visa approved in a matter of hours, thanks to Congressman McGovern and his team. But Catherine satisfied the inclusion/exclusion criteria for the clinical trial. She was the right age and had been diagnosed early, when there was hope the treatment could make a difference. Dr. Flotte just happened to be attending a conference in Brussels, where Tamara and her kids were living after escaping the war. He was able to examine Catherine and talk with Tamara about the clinical trial.
And perhaps most unbelievable of all, doctors had received FDA approval to treat up to nine children with gene therapy, and Catherine would be patient #9, qualifying for the only remaining spot.
Tamara Radivilova
We decided to go, of course, it was just only one chance to do something.
Jennifer Berryman
So, was it a difficult decision for you?
Tamara Radivilova
No, it was not hard decision or something like that.
Jennifer Berryman
How did you survive that?
Tamara Radivilova
I don’t know. Somehow, I don’t know. It was just only the one way. I don’t know. It’s maybe, if you don’t have a choice, you can do that.
Jennifer Berryman
Within a matter of days, Tamara and her husband once again found themselves at an inflection point. 1,600 miles away from Brussels and his family, he was still on the front lines in Ukraine, calling whenever he could to check on his family. And Tamara was faced with the prospect of leaving her home once again. This time to take Catherine on an even longer and more uncertain journey, 3,500 miles away to Worcester, Massachusetts, for her baby to receive an investigational gene therapy. I mean, it’s really hard to imagine the weight on Tamara’s shoulders.
Terence Flotte
Yeah.
Jennifer Berryman
A husband fighting in Ukraine, her parents and son living in Brussels as refugees, and she’s now in the U.S. with her daughter getting an experimental gene therapy. I mean, it’s almost unimaginable.
Terence Flotte
Well, I just say yes to what you just said. It’s I don’t necessarily think that I as an individual could have handled that, but also she handled it both with, you know, kind of the fierce dedication that a lot of our mothers have, but I think also with a certain poise and grace. I guess having grace under fire, courage. Tamara, as a mother, is pretty exceptional in that, you know, she’s a university professor, she was very able to handle integrating a lot of complex information and complex emotions at the same time. And she came across with a pretty clear, I think, decision related to the risk/benefit and committing to the trial so that that part helped, because that can, that’s a very difficult decision for families.
Jennifer Berryman
With the decision made, Tamara and Catherine packed up to spend months in the U.S. while Dmytrii stayed in school in Brussels with his grandparents. At UMass Chan, Catherine first underwent weeks of preparation that included imaging, lab tests, immune suppression and functional testing.
Terence Flotte
We have a partner at Mass General Hospital, Florian Eichler, who coordinates doing some of the assessments, so that they can be done somewhat independently, and we hope in a somewhat less biased fashion.
Jennifer Berryman
All in preparation for the delicate and complex surgery that would deliver genetically modified instructions to her brain cells, to teach them how to produce the enzyme that’s missing in children with Tay-Sachs. It’s called Hex-A.
Terence Flotte
And the surgery they undergo is to have this image guided, MRI guided, tiny, thin catheter, basically a tube put in with a needle into a deep brain structure called the thalamus on each side. And then through that catheter over a very long period of time, the vector material, the good genes, are actually put in, you know, kind of filtered in slowly over, like, in her case, it would have been at least eight hours altogether, maybe nine hours. And the very next day we do a second administration, but instead of putting this one into the brain, we go in through a spinal needle the way that you would get a spinal tap. We do it two ways because the deep brain structure that we are in does have connections over wide portions of the brain. We call it posterior fossa structure, cerebellum, and so forth, but it doesn’t connect well into the spinal cord or the more posterior parts of the brain. In the spinal fluid, it bathes the outside of the brain. So, we’re trying to get it from the inside out and from the outside in. So that’s day two.
Jennifer Berryman
After some recovery time in the hospital, Tamara and Catherine called a hotel near the hospital home for weeks, so they would be nearby for follow-up appointments, at first for safety and as the weeks go on, to see if the gene therapy is taking effect, prompting the brain cells to make their own HexA. Dr. Flotte says that when gene therapy is effective . . .
Terence Flotte
We’re able to see that we’ve either reversed some parts for a short time, the first month or so, or after that, really slow it down, plateau it, because we’re catching these patients at a point in time where they would be rapidly losing many functions and interestingly. So, they preserve the ability to feed by mouth and either delay or avoid the tube feeding for quite a long time. So, it’s a pretty big change.
[SOUND OF JENNIFER BERRYMAN ARRIVING AT TAMARA’S HOME IN BRUSSELS]
Jennifer Berryman
Is it here? OK. Oh, on the other side of the street. Yes, this is good thank you.
[SOUND OF SEAT BELT CLICKING]
Jennifer Berryman
OK, thank you for the ride
[SOUND OF DOOR CLOSING]
Jennifer Berryman
OK, I see number 20.
[SOUNDS OF DOORBELL BUZZING]
Jennifer Berryman
OK, B1.
[SOUND OF DOORBELL BUZZING TWICE]
Jennifer Berryman
Hi Tamara, it’s Jennifer.
[SOUND OF DOORBELL BUZZING AGAIN, DOOR CLOSING, FOLLOWED BY FOOTSTEPS WALKING UP STAIRS]
Jennifer Berryman
Are you Tamara? Hi! Thanks for coming out to get me.
Jennifer Berryman
In December, we visited Tamara and her family, and accompanied her to one of Catherine’s physio, or PT, appointments.
Catherine’s PT
Hello, it’s Anna. Hey, hey, hello, its Anna. Bonjour. Hello. We moved her body slowly trying to get her comfortable.
Jennifer Berryman
The rollercoaster of Catherine’s recovery continues. After returning to Brussels from Worcester for a time, she got stronger. She was able to sit up, hold her head up for a bit, make eye contact and play with other people. (pause) In the months since, she has suffered setbacks, too, including seizures. In the fall of 2024, she spent a month in the hospital due to vomiting, which caused her to get weaker again. Tamara found a physical therapist they love, and stepped-up appointments to twice a week to try to help Catherine regain what she had lost.
Jennifer Berryman
What muscles is she using right now?
Catherine’s PT
She’s using her shoulders mainly and its pushing like this. The head but I’m helping like this. I’m getting some information here.
Catherine’s PT (talking to Catherine)
Push it push it with me. Stretch.
Jennifer Berryman
Are you trying to stretch her muscles?
Catherine’s PT
Mostly to activate them. Sorry my English isn’t (good). A bit of stretching for her to sense them and a bit of tension in the direction of the connection. So she can react and participate, depending on the day, the hour and the willing.
Jennifer Berryman
Can you tell if she likes it or doesn’t like it.
Catherine’s PT
Oh when she doesn’t like it, it shows (laughs) or she falls asleep.
Jennifer Berryman
Or she falls asleep.
How do you think about the future in terms of Catherine’s childhood and progression?
Tamara Radivilova
I don’t know. (Crying)
[MUSIC]
Tamara Radivilova (talking to Catherine)
Ya, ya, bravo, bravo, my lovely baby. You did it by yourself.
Jennifer Berryman
How do you describe the role and the impact of families in driving this work?
Terence Flotte
No question that this, that our program wouldn’t exist without families. We always want to be sure they understand. This is investigational. This is a trial. It means we don’t know everything that’s going to happen, and it incurs significant risk.
[MUSIC]
Terence Flotte
Deciding to do all of that, to go through all of that, and have no guarantee that it’s really going to help. That takes a lot of courage.
[MUSIC]
Terence Flotte
In pretty much every case, we hear families say, you know, hopefully it will help my baby. But if we can just help other families who end up in this situation, we’re in for the future by helping me move things forward we want to do that. We want our baby’s life to be meaningful. And part of how it’s meaningful, I think all of us for what we do is both what we enjoy about it, but I think also feeling like we we’re here for a reason, you know. And I think I’ve heard families reflect on that.
[MUSIC]
Tamara Radivilova
It’s not the same with every child.
Jennifer Berryman
Every child has a different response.
Tamara Radivilova
Yay.
Tessa Wassenberg, MD, PhD
Of course, we should give hope about new treatments and new developments. It’s really important to give hope, but also to give, well, a good education about what is a clinical trial? What can we expect? And we’ll make sure we will support them in every way.
Jennifer Berryman
Dr. Flotte, whose own career has matched the arc of modern gene therapy, is deeply invested and inspired by its promise for treating rare genetic diseases.
Terence Flotte
For me, it’s been quite interesting, because I just finished my formal training, finished my fellowship training in 1992, and by 1995, I was the principal investigator of the first human trial with AAV. I feel sometimes like I’m the Forrest Gump of gene therapy. I really happen to be in the right place at the right time. When you first see that, you can get a gene into a person and measure it and know it’s there. Well, that’s like, you know, you take the first step. The technology then has to improve. But in some cases, it can only improve so far before you need some new science. Especially in the case of single gene disorders, which, you know, rare single gene disorders, there’s 7,000 of them. They affect one of the 10 Americans in that case, if there’s one gene causing one disease, the concept behind gene therapy is basically too simple to fail. That once you have a single gene you can change and you have a means to put it into the cells, it’s really just a matter of technology at that point. It’s just a matter of refining our process, improving, making it safer, more efficient. I am very, very bullish on this. I do think that over time, we’ll come up with simpler systems that can be made more cheaply and more rapidly.
[MUSIC]
Jennifer Berryman (talking to Catherine during the PT appointment)
You worked so hard, You’re so tired! Yeah, you did a good job.
For now, Catherine’s doctors in Brussels are trying to manage her seizures and chart her progress, while her mom and grandparents remain devoted, round-the-clock caregivers, spending every waking hour tending to Catherine as she sleeps, eats and as her mom helps her work her muscles every single day.
Catherine’s PT
She’s standing?
Tamara Radivilova
Ya
Catherine’s PT
OK. With the standing table?
Tamara Radivilova
Sometimes with the table, sometimes with the couch here.
Jennifer Berryman
Tamara kisses her son, Dmytrii’s head, as he sits at the kitchen table. He’s 10 now and settling into their new life in Brussels, 1,600 miles from where he was born. It took him about six months before Tamara says he was comfortable in their adopted home. But he’s making friends and, in school, learning to speak new languages—making it five in all—Ukrainian, Russian, Dutch, French and English, which she urges him to practice with their visitor from Massachusetts.
Tamara Radivilova
English, please!
Jennifer Berryman
You like to be in Brussels?
[TAMARA REPEATS THE QUESTIONS IN A DIFFERENT LANGUAGE]
Dmytrii Radivilova
Yes
Jennifer Berryman
Yes? What do you like? You like your friends
Tamara speaks for Dmytrii
The whole life, everything.
Jennifer Berryman
It’s a good life.
Jennifer Berryman
We see that you’ve been through so much, and so we want to thank you for sharing it with us. You have incredible, you have such incredible strength.
Tamara Radivilova (crying)
No, not enough.
Jennifer Berryman
Well, it’s gotten you this far. So, thank you.
Tamara Radivilova
Yeah, thank you.
[MUSIC]
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 edited the episode.
Dan Lambert and Samuella Akaab designed our graphics.
Joanna Alizio and Rey Gonzalez designed our webpage.
This episode was also produced, photographed and hosted by me, Jennifer Berryman.
[MUSIC]
If you found this series worthwhile, we hope you’ll share it on social media or tell a friend to visit: umassmed.edu/rarediseasesrealstories.
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