Four-year-old Noa Greenwood is an inspiration for families facing Canavan disease, a rare genetic disorder. In June 2022, she became the third child to receive a promising gene therapy for the disease, developed by researchers at UMass Chan Medical School. This episode explores Noa’s story, her parents' commitment to rare disease awareness and the hope innovative treatments provides.
“She is doing things that we never expected her to do.”
What is Canavan disease?
Canavan is a progressive and rare genetic disorder affecting the central nervous system, muscles and eyes. Symptoms in infancy may include increased head size, weakness, low muscle tone and loss of head control. The condition is caused by mutations in the ASPA gene.
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Learn more about Canavan disease:
National Tay-Sachs & Allied Diseases Alliance, Inc.
Horae Gene Therapy Center at UMass Chan Medical School
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Transcript – Noa’s story
This transcript was created using speech recognition software. While it has been reviewed by the Office of Communications, it may contain errors.
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]
Lee Greenwood, Noa’s father
This is NAPA [Neurological and Physical Abilitation Center]. Welcome. This place is magical.
Jennifer Berryman
On a sunny and chilly morning, we’re meeting four-year-old Noa Greenwood and her dad, Lee Greenwood, in Waltham, Massachusetts.
Lee Greenwood
Do you remember our friends from UMass [Chan]?
Jennifer Berryman
As they arrive for Noa’s weekly physical and occupational therapy sessions.
Micayla Pedrick, DPT, NAPA
You ready to rock?
Lee Greenwood
Do you want to show everybody your stuff? I will come and check on you in a little bit. I’m going to leave your water here in case you get thirsty. All right, have fun. Enjoy playing.
Micayla Pedrick
You ready? Do a super big stand. Three. Two. One. Go Noni, go Noni. You can do it. Super tall girl. Let me see. Do you need help? No, you don’t need help. You can do it. You can do it. Ready, go, go! Go ahead. Walk over and you can pick any animal you want. You can do it.
I’m Micayla Pedrick. I’m a physical therapist at NAPA Center.
Micayla Pedrick
Okay, let’s do one more stand. Beautiful job. Yup, you got it.
Every Thursday morning, I walk in, and I’m just like, I get my Noa girl today. When I first started with her, I think maybe she would take one or two steps and then sit down. And now you can see she’s walking all the way across the gym. She’s at the point where we’re working on walking across dynamic surfaces, her being able to access her playground. We’ve done climbing, trampoline, just walking on different dynamic surfaces, standing up from the floor. So, really just her independence with accessing her environment.
Christine DiChiara, OTR/L, NAPA
Okay, we’re going to go up on our tall knees, and then we’re going to go on a half kneel, and we’re gonna pull the rope. Okay?
Noa Greenwood
Yay.
Christine DiChiara
Yes, we can do it.
Jennifer Berryman
Christine DiChiara is Noa’s occupational therapist at NAPA, which stands for the Neurological and Physical Abilitation Center. NAPA specializes in intensive and personalized therapies for children with physical and neurological challenges.
Christine DiChiara
All right, love bug.
Jennifer Berryman
Christine has been working with Noa since October 2022, more than one year after Noa was diagnosed with Canavan disease, a rare genetic and progressive neurological disorder that affects the central nervous system, muscles and eyes. For Noa’s parents, Lee and Lori, the diagnosis around her first birthday was, of course, a shock. They’d never heard of Canavan. But at the same time, it offered them a clarity that was sobering and dizzying, explaining a constellation of symptoms including concerns about Noa’s vision, weight and missed milestones. The definitive diagnosis changed the trajectory of the Greenwoods’ lives, but so, too, did something surprising that their doctor told them.
Lori Greenwood, Noa’s mother
The day we got the diagnosis she said to us, “But there’s a trial.” We were the first family to be given this idea that there was something you could do. All the other families were told, just go home a love your kid. There’s nothing you can do, but for us it was, “There’s a trial, there’s something on the horizon,” that actually could make a difference.
Jennifer Berryman
That something on the horizon was the CANaspire Phase I/II clinical trial. Sponsored by Aspa Therapeutics, a BridgeBio company, the clinical trial was testing the safety and effectiveness of an investigational adeno-associated virus 9 or AAV9 gene therapy developed by gene therapy pioneer Dr. Gaungping Gao to treat Canavan disease. Dr. Gao is founding chair of the Department of Genetic & Cellular Medicine at UMass Chan Medical School.
Guangping Gao, PhD, the Penelope Booth Rockwell Professor in Biomedical Research, chair and professor of genetic & cellular medicine, director of the Horae Gene Therapy Center and director of the Li Weibo Institute for Rare Diseases Research
I started working on Canavan disease in 1989 when I was a graduate student at Miami Children’s Hospital. I discovered the gene and mutations for Canavan disease.
Jennifer Berryman
Decades after his seminal discovery, Dr. Gao was charting new ground once again. In 2017, he led a team that developed the gene therapy vector to treat Canavan in the lab. In 2021, the Phase I/II trial of that investigational treatment opened the very same day Noa was diagnosed. Within months, Noa became the third child to receive a dose of the experimental gene therapy.
Jennifer Berryman
Was that a hard decision?
Lee Greenwood
Was it a hard decision to move forward?
Jennifer Berryman
To let your daughter be part of a Phase I (clinical trial)?
Lee Greenwood
Yes and no. It’s the hardest decision that we’ve ever had to make, of course, because for all the obvious reasons. We’re putting her through this incredibly challenging experience that asks so much of and demands so much of her. And we had no idea the efficacy. We had no idea the safety. We had no idea of anything. I mean, again, she was the third kid, and at that time, there was no data on any of the participants the previous two, so we were going in just blind. So, in a sense, yes. But the reality for us was that we knew what Canavan disease looked like untreated, which is what generations of kids had been their experience prior to that exact moment in time. And it’s a really awful disease, you know? It takes everything from these kids and from these families.
[MUSIC]
Jennifer Berryman
Christine, Noa’s OT at NAPA, remembers those earliest days.
Christine DiChiara
Can we come up tall, tall, tall. But first, let’s get lefty leg forward. Huya.
Yeah, she was just this little baby. I remember her vividly. I remember day one, and her and Lee coming in. I remember being emotional. I just remember her sitting there all by herself, and just having a slight tremor, but reaching for stuff. And she wanted to explore everything, but didn’t quite have the ability yet to get there.
Jennifer Berryman
Can you sort of think back to that moment and compare to what she’s able to do today?
Lee Greenwood
You know, I can. To say it’s a different child here is an understatement. When she first came, I just remember looking around and seeing some of the kids and seeing what some of the other kids were doing and thinking, that’s wonderful. And I’m so happy for them, but that’s not going to be our journey. That’s them, and this is us. And now she’s walking independently. She’s standing independently, she’s jumping. I don’t know if you guys saw but there’s a trampoline she loves—it’s her favorite thing in the world. The idea that the Noa from October 2022/June 2022 certainly until now would be doing these things. I don’t even know the words. It’s not something we ever could have anticipated. And certainly I would never have given myself the emotional space to have accepted it, to be honest with you.
[MUSIC]
Jennifer Berryman
Did it almost feel like too much to hope for at that time?
Lee Greenwood
Well, hope is a funny word in this world. When she was dosed, I had no hope. And I don’t mean that in the sense that I was hopeless. I just did not give myself the emotional space to have any expectations. She was the third kid dosed in this trial. And it’s a trial. She is the test. We had no idea if it would have any positive impact. We had no idea if it would be safe, if the gene therapy would be safe. That was why they tested her. She is in Phase I part of the trial, the safety component. I have hope now in a way that I never did before.
Jennifer Berryman
What hope does that take for you? Do you allow yourself to think too far into the future?
Lee Greenwood
No, but it’s not about being emotionally guarded now.
Noa Greenwood
Tickle you.
Lori Greenwood
You’re tickling me, I’m tickling you.
Noa Greenwood
Tickle you.
Lee Greenwood
I love that laugh.
Jennifer Berryman
Noa’s world keeps opening wider.
[SOUND OF NOA PLAYING THE RECORDER]
Jennifer Berryman
Playing the recorder. Vacationing with her family. Sledding with her big sister, Max, for the first time ever over the holidays.
[SOUND OF NOA AND HER SISTER SLEDDING]
Jennifer Berryman
At home, she’s growing more independent. Getting her own snacks. Helping to set and clear the dinner table. Using new words. In short, Noa is breaking new ground every day.
Lee Greenwood
Let’s do it all again. Show me. Where does it say ‘mom’?
Noa Greenwood
Mom!
Lee Greenwood
Where does it say ‘dad’?
Noa Greenwood
Da! Da!
Lee Greenwood
Where does it say ‘nana’?
Noa Greenwood
Na.
Lee Greenwood
There’s just something about Noa. It’s infectious.
[MUSIC]
Jennifer Berryman
This year Noa is in pre-kindergarten, part of a traditional inclusion classroom in Boston. More than two years after receiving the experimental gene therapy developed at UMass Chan, doctors and her family agree that Noa is an outlier and is exceeding every expectation they dared to have. And, yet the realities of living with a rare disease are never far.
Lori Greenwood
We’re getting the house ready to sell, so that we’ll be ready to put it on the market when we need to. We’re hoping to try to find a place that has one floor of living. It’s been something that’s been really emotional. But this is the reality. This is our life. This is what it means to have a kid who has a disability.
[MUSIC]
Lori Greenwood
I feel really lucky to have Lee as a partner in all of this. I think that we have grown stronger together in this. Lee and I are planners. We like to plan, and we like to know what the future is going to look like. We like to know how things are going to be. We have had to let that go. We have no idea. Noa is one of one at this point in time. She is the one who is setting the bar and setting the expectation of what a kid who has Canavan has and has received this type of treatment might be able to look like, and what they might be able to do. And so we have nothing to compare her to. As far as what this means long term for her, what she’s going to be able to achieve long term. And even if it lasts, we don’t actually know that this lasts. We don’t know that this is a treatment that is going to have a lasting effect that will carry her throughout her entire life. I think of her medical teams, that they have always been very honest with us. They have never made any promises to us about any of this. They can tell us what they have seen in similar diseases with similar treatments. They can tell us what they have seen in animal models, but they can’t tell us what the future holds. And that is something that we have really had to let go.
Jennifer Berryman
How does that make you feel?
Lori Greenwood
I think it has helped me to appreciate this moment that I have with Noa. She is doing things that we never expected her to do, ever.
Lori Greenwood
Are you going to be a dragon for Halloween?
Noa Greenwood
Yeah!
Lori Greenwood
What does a dragon say?
Noa Greenwood
Roar!
Lori Greenwood
Roar!
Sometimes I will see her do something, or she will say something, and it is still blowing my mind. Two years later, I cannot believe that you just said that to me. I cannot believe this is where we are right now. I cannot believe how much you have changed and grown, and all that you’re doing. I am really focusing on just really appreciating that and really appreciating this moment and not trying to worry too much about the future. Noa is great, and she’s just doing so well. And, yeah, we have to move. We have to make adjustments to our life, and we don’t know long term, what’s that’s going to look like, but where we are now, it’s just awesome.
Christine DiChiara,
Alright, pull. One, two. When did you get so strong? What? How is this so easy?
Jennifer Berryman
Noa’s intensive one-on-one therapies are ongoing, as are follow-ups for the clinical trial, which include assessments, scans, blood work and doctor’s appointments. The Greenwoods count themselves among the fortunate to live in Boston, while other families have to travel from all over the country and around the world. They are grateful to have found and embraced the global Canavan community of children, parents, advocates and researchers, especially Dr. Gao, Dr. Dominic Gessler [Dominic J Gessler MD, PhD'20, assistant professor of neurological surgery at UMass Chan] and the gene therapy team at UMass Chan, who helped change Noa’s life.
Guangping Gao
Even though I’m not involved in the clinical trial itself, Noa’s family and our lab have been very closely connected. Noa’s family shares a lot of videos and pictures with us showing dramatic improvement after gene therapy treatment. I feel very emotional. I’m very, very happy for this outcome. I wish we could treat more patients to save their lives and change their quality of life. Everything is about patients, about family. They are the heroes.
[MUSIC]
Lee Greenwood
Dr. Gao and Dr. Gessler are probably more than they want, but they gave me their cell phones, so I send them videos and texts, as much as I want to. And until they’re going to block me, or tell me to stop, I’m going to just keep sending them updates. I can’t see those two people and all the folks in their lab without getting emotional and feeling overwhelming gratitude. To have them now a part of our lives, to have them come to my house and to have Dr Gao get on the floor and play with my kids and our dog at my house was just one of the greatest moments of my life. Honestly, to see how much Noa means to them, I don’t know if they can ever appreciate how much they mean to our family. It’s one of the ancillary benefits of this whole experience.
Jennifer Berryman
It’s an incredible connection that you never could have anticipated.
Lee Greenwood
No. No.
[MUSIC]
Lee Greenwood
Day to day, we’re in it. There’s the chaos of breakfast, lunch, screaming kids, school, all the things. But when I can stop and have a little perspective on where we are, this experience, how unique this opportunity, this entire journey, has been. It’s wild. I mean, it leaves me speechless.
[MUSIC]
Jennifer Berryman
We’d like to thank the Greenwood family, Lee and Lori, Noa and Max, for spending time with us. And the team at NAPA in Waltham for giving us an inside look at the intensive therapy offered to children like Noa.
[MUSIC]
Jo Kaur, Riaan’s mother
It’s hard not to melt into Riaan’s eyes. They’re warm, full of wisdom and overflowing with love. That twinkle in his gaze envelops me, chasing away the cold and darkness.
Jennifer Berryman
Words shared by Jo Kaur, mother to Riaan, a five-year-old boy diagnosed with Cockayne syndrome. It’s a rare and fatal genetic disease that took an incredibly long time to diagnosis.
Jo Kaur
Managing a child with a severe illness from day to day is very difficult.
Jennifer Berryman
In the next podcast episode, Jo and her husband, Richie DiGeorge, take listeners on an emotional journey from the day Riaan was born. They reflect on their darkest days, the incredible milestones.
[SOUND OF RIAAN’S FAMILY SINGING HAPPY BIRTHDAY]
Jennifer Berryman
And their pursuit to raise funding for a gene therapy that could treat Cockayne syndrome.
Jo Kaur
I don’t know where we would be if we didn’t have this hope on the horizon.
Jennifer Berryman
Don’t miss Riaan’s story.
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 this episodes.
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 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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