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Family of Child With Rare Disease Finds Hope
It was 1 a.m. on a windy morning when baby Julian was born in Puerto Rico. A hurricane was coming, and people were evacuating the island.
“It was a very stressful moment,” recalled Julian’s father, Juliano Miranda.
Not long after Julian was delivered by emergency C-section, the windows of his hospital exploded in the high winds, as the island’s biggest storm in 90 years — Hurricane Maria — made landfall. Julian, along with all the other babies in the neonatal intensive care unit (NICU), had to be rushed into underground tunnels and relocated to a different hospital. For weeks while all the hospitals were on lockdown, Julian remained in the NICU.
“We had no light, no power, no water,” recalled Julian’s mother, Cynthia. “We didn’t get to see Julian for days.”
Hurricane Maria devastated Puerto Rico, causing a major humanitarian crisis. Life on the island, for so many survivors, was completely disrupted — and so was life for baby Julian. As time went by, his parents began to notice that Julian wasn’t meeting his developmental milestones.
“By eight months, he was still acting like a four month-old baby,” said Cynthia. “Nothing made sense.”
Cynthia, who has a bachelor’s degree in nursing, knew something was wrong. She looked for solutions — early intervention, occupational therapy — but nothing worked. “We just kept pushing and pushing.”
Finally, the Mirandas convinced their insurance provider to cover the cost of genetic testing, and that’s when they got the news: Julian was diagnosed with MECP2 duplication syndrome (MDS).
MDS is a rare disease — an X-linked genetic disorder caused by the overexpression of MeCP2 protein — characterized by severe intellectual disability and impaired motor function. The Mirandas did their best to find help for their son, but his diagnosis was so rare that few doctors on the island knew what to do. To date, Julian is the only known case in Puerto Rico, and his parents felt very isolated.
In 2020, however, they heard about an MDS conference at The Duncan NRI at Texas Children’s Hospital. The Duncan NRI is a premier neurological research institution and a destination for families seeking answers for rare and undiagnosed neurological conditions, as well as more common neurodegenerative and neuropsychiatric disorders. Its founding director, Dr. Huda Zoghbi, is widely renowned for her groundbreaking research on Rett syndrome and the MECP2 gene and for developing a strategy to normalize MeCP2 levels, showing that this reverses disease symptoms in an MDS mouse model. Efforts are now underway to translate this discovery into a treatment that will help MDS patients.
“We came to the conference in 2020,” said Cynthia. “And that’s when Texas Children’s offered the answer for us.” She paused and looked at her son. “I’m getting emotional already. It was an answer to prayers. We had so many people on the island telling us no. No, he’s not going to walk. No, it doesn’t matter how many therapies he gets. No, he’s not going to be functional…”
She wiped away a tear.
“Going from that to hope — it was big for us,” she said. They were at the conference for three days, and when they went back to Puerto Rico, they decided to move.
And that is exactly what they did. The Mirandas packed up their belongings and moved to Texas to be close to Texas Children’s Hospital.
“We decided to move because we wanted the best treatment for our son. And it has been wonderful,” said Cynthia. “Texas Children’s has provided every single thing. I was able to go back to work, having the security of knowing that if anything were to happen, we have Texas Children’s Hospital The Woodlands five minutes away from where we live. Everything is recorded in his MyChart, so it’s convenient for me, because I don’t have to travel with the binder.”
Her husband laughed. “Actually, we had to divide it,” Juliano said. “We had three binders — like two-inch thick binders that were full of his medical records. But here, with MyChart, you have it all on your phone.”
“Everything is accessible,” agreed Cynthia. “I have never had a ‘no’ from Texas Children’s. We were instantly approved for Medicaid, and we signed up for Texas Children’s Health Plan. And I think that is the best thing I’ve ever done. Every medication gets approved. Everything has been a yes. Texas Children’s is the reason we moved to Texas.
“Honestly, it’s the only reason we’re staying in Texas. We’ve had multiple opportunities to move somewhere else, but the care at this hospital, the system, how it works has been so wonderful for Julian in his development. Within months, he started the army crawl. He resists, he can sit for periods of a time. We got his wheelchair approved, we got bathing equipment. Gosh, for me, my biggest advice for any family going through a similar situation is to look for the best option for your kids. And my best,” she said, “was Texas Children’s.”
In particular, Cynthia and Juliano spoke highly of Dr. Davut Pehlivan, a pediatric neurologist at Texas Children’s Rett Center and Assistant Professor of Neurology at Baylor College of Medicine. “He’s amazing, and we talk to him a lot,” said Cynthia. “He answers every phone call, every email. And it’s the feeling of being secure, of having someone that knows.”
When asked about his work with Julian, Dr. Pehlivan said he was very thankful for Julian and his family. “I know how much they go through, and despite that, they are trying to support ongoing research efforts,” he said.” It’s a huge sacrifice.”
“What families are looking for at our center, they cannot find anywhere else,” he continued. “The biggest thing is being very familiar with this condition, having a comprehensive team of experts. Even in big cities, some local doctors haven’t heard of this disease before. And that is causing a significant burden on families, because doctors are treating their children with a general approach. We have dedicated pulmonologists, we have dedicated gastroenterologists, and problems in these areas are very common in MECP2 duplication syndrome. We are working on this day and night. We are a huge team with the same goal: to find a treatment for this condition.”
“That brings me comfort,” said Cynthia. “It’s been an amazing experience. It’s been awesome — sometimes breathtaking. That’s how I feel. At Texas Children’s, my son has the best care, and for me, that is enough.”