Tommy and Linda Pham turned their heartbreak over their son Raiden’s ultra-rare disease diagnosis, UBA5 disorder, into hope for others. There are only 30 known cases in the world, but the Phams’ relentless determination and their partnership with UMass Chan Medical School could pave the way for gene therapy advancements.
“As parents, we are going to fight with him till the end.”
What is UBA5?
UBA5 disorder is a life-threatening, progressive neurological disorder. It typically involves muscle floppiness as well as stiffness, seizures, movement disorder, brain abnormalities, intellectual disability, poor head growth and failure to thrive.
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To learn more about the Raiden Science Foundation, visit the foundation’s website at: https://www.raidenscience.org/.
Follow Raiden’s journey on Instagram: @raiden_journey.
UBA5 disorder resources and support
Raiden Science Foundation
Translational Institute for Molecular Therapeutics at UMass Chan Medical School
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Transcript – Raiden’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 GIGGLING]
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.
Raiden’s story episode begins
[MUSIC]
Tommy Pham
We never imagined being on this journey.
Linda Pham
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
Tommy and Linda Pham welcomed their second child, Raiden, into the world on February 26, 2020. Like for most parents, those early days were a blur of new baby joy and exhaustion. Like his older sister Jordyn had, Raiden was hitting those early milestones. But by three months, something changed drastically.
[SOUND OF RAIDEN CRYING]
Linda Pham
He wasn’t progressing, he wasn’t meeting all the milestones that you should at three to four months. At three to four months or even 5 months. You start to get head control, you start to do more tummy time. He just wasn’t doing any of that. And if he did, he was like in pain.
[SOUND OF RAIDEN CRYING]
Jennifer Berryman
Seeing Raiden struggle was so hard for Tommy and Linda. It took a toll on their lives. Linda was in pain watching her son struggle to hold down any source of nourishment. Raiden was vomiting up to ten times a day, every time she nursed him.
Linda Pham
We knew something was wrong.
Jennifer Berryman
This was the point when the Pham’s entered an arduous medical at the peak of the pandemic. There were frequent trips to the doctors, hospitalizations, feeding tubes. But Raiden was only getting worse and seeing him like this was wrenching for Tommy and Linda.
Tommy Pham
And then whenever he pukes or throws up, the tube would come out through his mouth or literally come out through his nose. And as parents we would have to put that back in several times a day, and my wife would hold him down while we would put it back in and there were moments where we were like, did we have the tube in the right spot. Like we could technically kill him. So, it was a terrible time.
Jennifer Berryman
In December 2020, Raiden underwent surgery to have a feeding tube inserted into his stomach.
[SOUND OF HAPPY BIRTHDAY BEING SUNG TO RAIDEN]
Jennifer Berryman
And as his first birthday approached in February 2021, he was not making any progress.
Tommy Pham
No head control. Still very floppy, very stiff. Couldn’t put his hand in his mouth. Can’t even grab his foot. Doesn’t even like babble right. Can’t even lift his head.
Linda Pham
Can’t even do tummy time.
Tommy Pham
So, 110 percent, something was wrong.
Jennifer Berryman
Shortly after Raiden turned one, a new neurologist at a new hospital unofficially diagnosed Raiden as a quadriplegic cerebral palsy with dystonia to ensure he would receive critical services. A diagnosis finally came after a whole exome sequencing test when Raiden was 17 months old.
Tommy Pham
We actually got the result through an e-mail. So, our heart like really just stopped for the longest time until we can get a hold of our genetic counselor.
Linda Pham
All she said to us, “Oh, you know, your son has this disease called UBA5 and if you have another child there is a 25 percent chance that he or she will get it.” And she was like “Here you can read on it. But then we will call you for more details in the next couple days.” With the actual genetic doctor, we’re like, OK, we’ll wait. So, you can imagine that period of time while we’re waiting for 24-hours, we were searching the world for answer.
Tommy Pham
I have a bit of a background in biology, so I could read some of the paper and it was not good.
Jennifer Berryman
UBA5 disorder is an ultra-rare, life-threatening progressive neurological disease that can cause severe disability and seizures. Patients with UBA5 experience muscle floppiness as well as stiffness, seizures, poor head control and failure to thrive. Raiden is one of about 30 known cases in the world.
Tommy Pham
For a whole month we were just in a dark place. What you imagine, your vision for a family and what you’re going to do and all this vacation, right, all that, is this out the window?
[SOUND OF RAIDEN’S SISTER PLAYING]
Tommy Pham
When you think about rare disease, like his is ultra rare. There’s no treatment, there’s no cure. For a whole month we were just in a dark place. We didn’t want to do anything, right. And in an instant life just turned upside down. What you imagined, what you visioned for your family. What you’re going to do. We took time to digest to, I don’t know, I mean, to grieve as well to talk to other families.
Linda Pham
And to talk to other families. And the more we talked to other families, it was even more heartbreaking, like seeing their kids, that just that was probably the hardest thing. Some kids actually did pass away at a very young age. You have a child and you imagine all of the, the good stuff. And now it’s like, totally opposite. It was the hardest time.
Tommy Pham
Our neurologist just told us we’ll treat the symptoms as it comes.
Jennifer Berryman
Facing their grief and processing the diagnosis, the Phams empowered themselves to make a difference for Raiden.
Linda Pham
But you know, as parents, we are going to fight with him till the end.
Jennifer Berryman
It is not easy. Raiden requires 24/7 care. He is not mobile. He will be five-years-old on February 26, but cognitively doctors estimate he is seven months old. The Phams say their love for one another, for Jordyn [their daughter], for Raiden, and support from their families fuels them.
[SOUND FO RAIDEN AND HIS PARENTS PLAYING A GAME]
Tommy Pham
We can’t give up.
Linda Pham
We just have to move forward day by day and that there are days, I’m not going to lie to you, it’s hard, but you know, . we just have to keep doing it because it’s for our family, and for other kids.
Jennifer Berryman
This new chapter of their journey was marked by a deep dive into genetic disorder research. With Tommy’s background in biology and chemistry and connection to the world of biotech, he reached out to scientists from coast to coast.
[MUSIC]
Miguel Sena-Esteves, PhD, associate professor of neurology and founding director of the Translational Institute for Molecular Therapeutics at UMass Chan Medical School
People are starting to know that we do this. We just get emails most week from new parents, new diseases.
Jennifer Berryman
Miguel Sena-Esteves was one of the first scientists to respond to Tommy’s email.
Dr. Sena-Esteves is an associate professor of neurology and founding director of the Translational Institute for Molecular Therapeutics at UMass Chan Medical School.
The institute leverages UMass Chan’s extensive experience to design therapies for early-stage clinical trials for individual rare diseases like UBA5.
Miguel Sena-Esteves
I mean, the need is enormous. It’s just as simple as that. It’s really the job of the Translational Institute. It was started as being primarily to help other investigators at UMass Chan and potentially elsewhere, which actually, actually translates from discovery at the bench to the clinic. I see sort of this emerging of centers that hopefully start collaborating together to really make this translation faster and more efficient, to really get these therapies to patients.
Tommy Pham
Once we knew about gene therapy, even though a lot of it is experimental, it provides hope.
Jennifer Berryman
UMass Chan is known for its pioneering advances in gene therapy research but was not working on UBA5 specifically until the Phams reached out.
Miguel Sena-Esteves
We worked at all levels, which is from the very beginning, like UBA5, there was not even a mouse model that could actually be used that Tommy has developed in collaboration with someone else.
Tommy Pham
We feel confident that UMass Chan is the right choice to be on this journey with us.
Jennifer Berryman
In 2021, the Phams established the Raiden Science Foundation and began a large-scale fundraising effort to support UBA5 research at UMass Chan, all while holding down two full time jobs and raising their family.
[SOUND OF RAIDEN’S SISTER PLAYING WITH RAIDEN]
Tommy Pham
We really have one shot to do this and it’s a significant amount of money that we have to raise.
Jennifer Berryman
$4 million dollars is the goal. So far, they’ve raised 1.3 million.
Miguel Sena-Esteves
It’s not only about helping people, which, of course helping parents, but also help train very capable young investigators to become sort of also involved in the rare disease field.
[MUSIC]
Jennifer Berryman
In the lab at UMass Chan, researchers are making progress into a gene therapy to treat UBA5.Toloo Taghian, PhD, is instructor of radiology and is leading the research. Dr. Taghian has identified the top two viral vector constructs for UBA5 expression. Those discoveries could lead to the development specifically for UBA5 gene therapy.
Toloo Taghian
And right now we’ve got different line of mouse models of the disease. I’m trying to phenotype them, figure out what is wrong. We are doing and translating gene therapy to those animal models, we are seeing very, very exciting results. I hope we really can help patients and all these kids.
Miguel Sena-Esteves
You have the opportunity to have a huge impact.
Tommy Pham
Let’s assume there is a miracle. We are able to, at the end of the day, help treat Raiden to give him the best part of life and help UBA5 kids as well.
Linda Pham
We honestly don’t want, you know, another family to go through what, what we went through. So if we can help in any way, that’s a win for all of us
A special thanks to the Phams, Tommy, Linda, Raiden and Jordyn. And UMass Chan researchers Toloo Taghian and Miguel Sena-Esteves.
Learn about the Raiden Science Foundation at: RaidenScience.org.
Rare Diseases, Real Stories is a production of the Office of Communications at UMass Chan Medical School.
This episode was conceived of and produced by Sarah Willey.
Bryan Goodchild recorded and edited the episode.
Dan Lambert and Samuella Akaab designed our graphics.
Joanna Alizio and Rey Gonzalez designed our webpage.
It’s also produced and hosted by me, Jennifer Berryman.
In our next episode, we speak with the parents of seven-year-old Jack Laidlaw, his pediatric neurologist and a research team at UMass Chan. Jack has a rare genetic neurological disorder that is progressively weakening his legs and has no cure. It’s called hereditary spastic paraplegia type four, more commonly known in the scientific community as SPG4. Jack’s parents, Anna and Richard, are committed to raising money to support research at UMass Chan to develop a gene therapy treatment that might help Jack.
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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