The Right Care Makes All the Difference
John Ryan’s Journey with GAND
When Emeline and Joao first learned their son, John Ryan, had a rare genetic disorder, they felt scared, confused, and utterly alone. They were unsure about what the future held for their son. Finding the right team to walk alongside them on this new journey would change everything.
A Diagnosis No Parent Expects
At just four months old, John Ryan's pediatrician noticed concerning patterns. He wasn't holding his head up. His muscle tone was unusually low. His head circumference was measuring far outside the typical range for his age. Each well-visit brought new concerns, and soon the family found themselves navigating a world of ultrasounds, MRIs, and neurologists.
The diagnosis came in stages. First, macrocephaly with benign congenital hypotonia, fluid buildup causing pressure in his brain that resulted in his low muscle tone. Then, at 18 months, genetic testing revealed GATAD2B-associated neurodevelopmental disorder (GAND), a condition so uncommon that even specialists had few answers.
"We were really scared," Emeline recalls. "We didn't know anyone with developmental disabilities. We didn't have this community. It was a brand new world for us."
GAND affects how the brain develops and functions. Children with this condition often experience global developmental delays, meaning milestones like sitting, walking, speaking, and eating independently can take much longer or look very different than they do for other children. Many children with GAND have low muscle tone, challenges with coordination and balance, significant speech delays, and learning disabilities. Because the condition is so rare (fewer than 500 known cases worldwide), families are often left without a clear roadmap for what the future may hold.
Searching for a Path Forward
When their pediatrician told them they'd need to research next steps on their own, Emeline and Joao searched everywhere, determined to find the best possible care for their son. They began researching hospitals, reading reviews and listening closely o other families’ experiences. Again and again, one place stood out: Children’s Specialized Hospital (CSH).
From John Ryan’s very first appointment, CSH felt right.
"The moment I realized Children's Specialized was going to be the right fit for our family was that it felt like a team we could work together with," Emeline explains. "The therapists really made us feel at home. They made us feel supported while we were navigating uncharted territory."
What set CSH apart was their approach. Rather than focusing solely on John Ryan’s diagnosis, his care team focused on him. His therapists took a thoughtful, step-by-step approach, treating symptoms and addressing challenges as they appeared. Working together, his occupational, physical, speech and feeding therapists built a plan for John Ryan, one piece at a time.
"We were comfortable with not knowing what the entirety of his journey looked like," Emeline says, "because they gave us the comfort of just taking it step by step."
Finding Hope and Community
Over the past four years, John Ryan has continued physical therapy, occupational therapy, speech therapy, and feeding therapy at CSH. He sees a developmental pediatrician and has been connected with specialists he didn't even know he needed, with each professional leading the family to another step in John Ryan’s journey.
But for Emeline and Joao, what truly transformed their experience was the sense of belonging. John Ryan lights up when he arrives at CSH. He knows everyone, and everyone knows him.
"So many families feel like a hospital is a cold place to be," Emeline reflects. "But that was never the case at Children's Specialized. We really felt like this was his second home. They helped us build community."
Joao adds: "When we go to the hospital, you see how welcome he is. He knows everyone will give him kisses, praise him. He feels special."
Specialized Care Changes Everything
As John Ryan grew, so did his confidence.
Through an intensive therapy program at CSH, John Ryan’s entire care team came together to observe him, share insights, and develop a coordinated plan tailored specifically to his needs. The intensive proved transformative for John Ryan. He gained a confidence immediately noticed by his teachers at school and family members alike. The intensive unlocked something in John Ryan.
"I never felt so much support at once for my child," Emeline says. "They all saw him, they all observed him. They saw where he needed the most support and worked as a team. I thought, 'This is exactly what we need. This changes everything.'"
Celebrating every “Inch-Stone”
Three years ago, when John Ryan was just two, his parents hoped he would one day be able to sit up, bear weight on his legs, and communicate his needs. Today, at five, he has surpassed those early hopes. He is a joyful, affectionate little boy who loves books and watches the world around him with bright attention.
"It's not easy to be caregivers. It's not easy to watch your child not hit developmental milestones," Emeline admits. "But at Children's Specialized, even his inch stones are celebrated. When your child’s progress is measured differently, those moments matter so much."
While GAND continues to shape John Ryan’s development and daily life, it does not define who he is or what the future holds for him. He works hard in therapy, celebrates every gain with his therapists and his family, and shows up each day excited to try again.
“Our greatest hope for John Ryan is that he can live as independently as possible,” his parents say. “Children’s Specialized Hospital has given us the foundation to believe that’s possible.”
Donors Help Write John Ryan’s Story
Emeline and Joao’s gratitude runs deep, especially for the donors whose generosity makes this level of care possible. They want every donor to know that their support doesn't just change patients' lives, it transforms entire families.
"One thing my husband and I always hear is that we make disability and caregiving look easy," Emeline says. "We couldn't make it look easy if we didn't have the support from Children's Specialized. We have people we go to, we have people we cry to, and we have people that tend to our children all the time. Without that support, we would not make it look easy…because it is not easy."
"Donations are what make every single program here at the hospital possible," she continues. "Without these programs, our kids would not be thriving. Our kids would not be learning to do things independently. These are your neighbors. This is part of your local community. These are the families you're walking alongside at the park and you might not even know the struggles that caregivers are going through."
John Ryan’s journey is still unfolding, but with community support, he will continue to move forward with confidence, joy and hope.
