The family of Irai celebrates two birthdays: one in July, when she was born, and another in May, when an operation almost five years later changed her life.
Irai’s parents were told she would only open and close her eyes and, with luck, be able to swallow. But ten years later, her life is drastically different – she speaks, eats alone, and even jumps.
This “miracle” wasn’t accidental, but the result of years of research and the work of the Fundación Columbus, which selected her to participate in an experimental treatment trial for AADC deficiency, a rare genetic disease also known as pediatric Parkinson’s. Only 130 cases of this disease exist worldwide.
A Difficult Diagnosis
Irai was born in July 2014, and initially appeared healthy. However, her mother sensed something was wrong during pregnancy. Soon after birth, it became clear Irai wasn’t developing normally. “She could only open and close her eyes, not crawl, move her hands, or sit up,” her mother, Carolina Moreno, recalled.
After a year, Irai received a diagnosis. “We were told they had a diagnosis, and we went to the hospital hoping to finally know what was wrong and that it could be fixed,” Moreno said. “But it was the opposite. The diagnosis was highly disheartening, devastating, and hard. We were told she would have a very poor quality of life, unable to do more than she had already achieved in her first year – opening her eyes and smiling.”
Remarkably, Irai was able to breastfeed during her first year, despite the grim prognosis. Doctors initially suggested a feeding tube, but her parents decided to try without one. For two years, they supported her head while feeding her, and later used special chairs to help her maintain her posture as she grew.
A Life-Changing Call
The initial diagnosis from Sant Joan de Deu Hospital offered a bleak outlook. However, two years later, another call would change everything. After learning of Irai’s diagnosis, the family began researching and discovered gene therapy was under investigation, though still years away. They created an association to raise funds for research and to help other families afford therapies.
When Irai was three years old, the Fundación Columbus contacted them, sharing that they had already operated on eight children with the same condition using gene therapy, with spectacular results. “They showed us videos of children who had been operated on a year earlier, and it was so emotional that I thought I was going to go into labor, as I was pregnant with my third child,” Moreno remembered.
Two months before turning five, on May 14, 2019, Irai underwent surgery in Warsaw, Poland. The operation involved introducing a virus carrying the correct genetic code into her brain, with the goal of correcting the faulty gene.
A Remarkable Recovery
The change was dramatic. “They smiled when we told them we hoped she could hold her head up on her own, given that they knew she could improve even more.”
And she did. “Our life changed radically. Within a week, she stopped having the attacks she had constantly experienced, where she would become very rigid and her eyes would turn upwards… it was very uncomfortable to witness because she would groan a lot. Three days later, she had a very large attack, and after that, they stopped.”
Step by step, Irai achieved milestones that once seemed impossible. “In the following months, she began to hold her head up, slowly move her hands, grab things, sit up on her own, use a spoon, eat, move around in little jumps, take her first steps, and gain control of her bladder… Now she is a very sociable girl who wants to go on excursions alone. We took her skiing for the first time this weekend. Now she can talk, communicate, and go to school with her siblings. Our life has changed in a drastic and wonderful way.”
Living Day by Day
Irai now lives with a disability, a developmental delay due to the four years she spent without movement. However, Carolina Moreno says her daughter is a quick learner. “She doesn’t stop learning… so we don’t set limits, she surprises us every day. Today, she is a very independent girl, capable of asking for what she wants, talking to her siblings, and telling you where she hurts… and she continues to evolve and improve.”
The illness and the operation have changed the family’s outlook on life. Carolina says they now focus on the present, living only three months at a time. “We were a very organized family, dreaming about what we would do in x years, but one of the things Irai has taught us is to live day by day, to enjoy and to be grateful for what we have today. We don’t waste a second thinking about what will happen tomorrow because you can’t control it and everything can change in a moment. And that has also served our other children. Right now, as a couple and as a family, we really enjoy what we have and we will face what comes our way.”
Moreno doesn’t offer advice to families facing similar situations, but wants to convey a message of hope. “Irai is proof of what can be achieved with investment. That’s why it’s so essential to invest in the lives of children. We find many families who want to have hope and want to fight for a second chance, but for that, you have to invest in science, you have to invest in it, and in the lives of all children.”
Frequently Asked Questions
What disease does Irai have?
Irai has AADC deficiency, a rare genetic disease also known as pediatric Parkinson’s, affecting only 130 children worldwide.
When did Irai undergo surgery?
Irai underwent surgery on May 14, 2019, in Warsaw, Poland.
What has been Irai’s progress since the surgery?
Since the surgery, Irai has made remarkable progress, learning to speak, eat on her own, walk, and attend school with her siblings.
What does it mean to witness such advancements in medical science and the impact they have on individuals and families?
