A Buffalo family is showing what is possible when parents use their skills to improve outcomes for their children with disabilities.
Soo-Kyung Lee, and her husband, Jae Lee, were both scientists before their daughter, Yuna, was born 16 years ago. Jae was studying metabolism and Soo was focused on brain development when Yuna was born with FOXG1 syndrome, a rare brain development disorder.
"So, Yuna actually came to the right mom," says Jae.
The Lees saw their daughter's potential and pivoted both of their careers to a parent-led movement for research into FOXG1.
Their journey led them to start Research Center for FOXG1 at the University at Buffalo. They've learned several new things about the condition through their research and developed the first medication for FOXG1, which was just approved for a human trial.
The Lees' experience also shows that research into rare conditions helps more than just those with a disability they're studying.
This week on the Disabilities Beat, we feature the Lees' journey to changing rare disease research for their daughter, and the wider impact they've had as parents leading the conversation around rare disease.
This story mentions a free upcoming event, Rare Disease Day, at the Jacobs School of Medicine and Biomedical Sciences on Friday, February 27. For more information, click here.
TRANSCRIPT
This is a rush transcript from a contractor that may be updated over time to be more accurate.
Emyle Watkins: Hi. I'm Emyle Watkins, and this is the Disabilities Beat.
Soo-Kyung Lee: A month ago, January —
Jae Lee: 14th.
Soo-Kyung Lee: ... 14th, is her birthday. I can't believe she became 16.
Emyle Watkins: Soo-Kyung Lee, and her husband, Jae Lee, were both scientists before their daughter, Yuna, was born 16 years ago. Jae was studying metabolism and Soo was focused on brain development when Yuna was born with FOXG1 syndrome, a rare brain development disorder.
Jae Lee: So Yuna actually came to the right mom.
Emyle Watkins: Everything changed. Soo immediately began studying her daughter's condition.
Jae Lee: I actually dropped everything else that I've been doing and then joined forces with Soo. So, I basically work for Soo, because Soo's an expert, right?
Emyle Watkins: Forkhead Box G1 or FOXG1 is a very critical gene for our brains. Everyone has two copies of the gene, which essentially guides how brain cells grow and work together, especially before birth. In FOXG1 syndrome one of the two gene copies are mutated randomly, meaning the condition isn't usually passed down. People with FOXG1 syndrome experience a wide range in spectrum of neurological and developmental disabilities.
Jae Lee: Our daughter, again, she has severest end of the spectrum, and she's basically 100% dependent, so she's not mobile. She cannot talk.
Emyle Watkins: Like any parents, Jae and Soo want the world for their daughter. They see her potential.
Their journey led them to start the FOXG1 Research Center at the University at Buffalo. They've made several key discoveries into the condition and even developed a gene therapy for FOXG1, which was just approved for clinical trial.
The goal, in scientific terms, is to deliver a functional copy of the gene to the patient. But for the Lee's, as parents, the goal ultimately is to help children, including their daughter, have symptom relief and functional improvement.
Soo-Kyung Lee: So she's a really loving person. She enjoys interacting with other people. When people are going around, she's paying attention. It's not very obvious at all because she doesn't say anything. She doesn't move her body that much. She doesn't show that much emotional expression on her face. It's a very subtle change that you have to pick up. So it's amazing for me to get to know Yuna as a person, how much potential she has.
Emyle Watkins: Soo says Yuna's condition makes it hard for her to communicate her wants and needs.
Soo-Kyung Lee: When I interact with my daughter, my main focus is, am I missing something that she wants?
Emyle Watkins: So, as they developed this treatment, the question at the heart was, what would Yuna want?
Soo-Kyung Lee: For Yuna, what she would be thinking about this therapy, what would she want to be? What would she want from her life? That's the question that I ask all the time because she doesn't directly answer to us. But I can see that Yuna's enjoying her life.
Emyle Watkins: The Lee's won't be involved in the clinical study due to conflict of interest rules, and they can enroll Yuna, but she may not be selected or may receive a placebo like any other patient.
But not everyone has been supportive of their work. The ideas of eugenics and social Darwinism still come up in conversation when talking about rare disabilities.
Soo-Kyung Lee: Sometimes I get the question like, "All right, we don't have enough money in this society, why should we spend this much resources on your daughter or children like yours who are less likely to get into full functional and return something to the society? Why should we invest that much in this case instead of my children[s' nutrition]?"
I think these are all fake choices actually. It's not like we take one thing, we take up food from child with less food and then give that to my daughter.
Emyle Watkins: The Lee's experience shows that research into rare conditions helps more than just those with a disability they're studying. The Lee's work has made strides in the field of brain development in ways that may not even be understood yet.
Soo-Kyung Lee: You sometimes have to drive things based on your curiosity. True scientific curiosity, not like costing the money, "how much are we going to make?" And I think when this scientific drive combined with the passion for human life, I think that's where spark is, that's where the great finding will come out.
Emyle Watkins: The Lees will present at Friday's Rare Disease Day Conference at the University of Buffalo. It's a chance for rare disease patients and practitioners to come together, share resources, and help each other.
And while the Lees are known for their research, their advocacy and work with other parents is also a reminder of the power of parents using their talents to make change for their children.
For more on this story and on Rare Disease Day, visit our website at btpm.org. I'm Emyle Watkins. Thanks for listening.
