ORLANDO, Florida—When Derek Porras Barboza was 5 years old, his parents noticed he was constantly falling down. Teachers in Guapiles de Limón, the Costa Rican town where the family lived, suggested he be seen by a pediatrician.
“The pediatrician sent us to an orthopedist, who referred us to a physiotherapist, and then finally a neurologist. This went on for a year,” said his father, Ricardo José Porras. “The neurologist tested Derek’s muscle reflexes and said it wasn’t a neurological but a muscular problem.”
Eventually, the boy was referred to the Hospital de Niños in San José, the capital of Costa Rica, where doctors did a creatine kinase test and determined that Derek had Duchenne muscular dystrophy (DMD).
“Obviously I was very sad,” said Ricardo, 31, interviewed in Spanish at the CureDuchenne Futures 2022 conference, held here in May. “They also did an exam on his mother and discovered she’s a carrier.”
Added Derek’s grandfather, Marco Vinicio Porras: “For all of us, this has been really hard. I had always hoped for a grandson who could play soccer. It looks like this dream will never come true. But of course, we accept it.”
Derek, who’s on a daily dose of prednisone, vitamin D, omeprazole, and calcium, is one of 200 to 300 boys with Duchenne in Costa Rica. Like thousands of others affected by DMD throughout the US and Latin America, the Porras family face the extra hurdle of accessing reliable information in Spanish—not to mention treatment and insurance coverage—for the rare disorder.
In Texas, home to 29 million people, roughly half the Duchenne patient population is Hispanic, according to Dallas-based pediatric neurologist Diana Castro, MD.
“We really don’t know the reason. It’s something that we need to understand better,” she told Rare Disease Advisor. “But we have not done enough research in the Hispanic population.”
Hispanic Patients With DMD Face Immigration, Language Barriers
Born and raised in Bogotá, Colombia, the bilingual Dr. Castro spent 14 years at several Texas hospitals, including UT-Southwestern Medical Center and Children’s Medical Center Dallas, before opening her own clinic this year.
One big obstacle to treating Spanish-speaking boys with DMD is that many have Medicaid, rather than private insurance, “and it’s difficult to get a group to take Medicaid,” Dr. Castro said. “That’s where the need is. It’s there and it’s huge.”
Compounding the problem is that most of the children and young adults in Dr. Castro’s care are of Mexican or Central American origin, where specialized knowledge of Duchenne is spotty or nonexistent.
“We don’t know what kind of medical care they got in the countries they came from, or even if the doctors knew what disease those children had,” she said. “In the case of Duchenne, these boys may have never been properly diagnosed.”
In addition, cultural and language barriers often make it hard for their families—especially those who may be in the United States illegally.
“I’ve been fighting for many years to have everything translated. If you’re going to come up with a research protocol, there should be an informed consent form already in English and Spanish. And having people that speak Spanish as their first language will make these families more trusting,” Dr. Castro said.
She added: “It’s already hard for those of us who speak English to navigate the medical system. Imagine how it is for somebody who doesn’t speak the language.”
To that end, Dr. Castro plans to form a nonprofit group aimed at Spanish-speaking children and adults with a variety of neuromuscular diseases—not just DMD, but also myasthenia gravis and spinal muscular atrophy. Among other things, her foundation will research why Hispanic boys are more likely to develop Duchenne, while treating patients who lack insurance coverage.
Akari Foundation Helps Dispel Rumors About Duchenne
Luisa Leal of San Antonio, Texas, knows firsthand about Duchenne. Her ex-husband is the father of two boys, Ariel and Enrique, with the disease. Leal’s involvement with the boys led her to establish the bilingual Akari Foundation in 2017.
Originally from the Mexican border city of Nuevo Laredo, she started out simply translating every online scholarly article about DMD she could find into Spanish.
“Unfortunately, our people believe everything they hear,” she said. “I’m part of at least 40 parent groups on Facebook, and the information out there is terrible. Everything they post or repost is something they believe. So for me, it was very important to educate them.”
Examples of misinformation, Leal said, include the false belief that a certain type of herbal tea will allow a boy with Duchenne to walk again. A self-proclaimed nurse promotes therapy with magnets. And an unscrupulous doctor from Central America claims that giving DMD boys stem cells will help them regain muscle and be able to throw away their wheelchairs.
The Akari Foundation—named after Leal’s daughter—raised $110,000 last year and $35,000 so far this year. The group now runs Spanish-language webinars for doctors and assists Spanish-speaking families of Duchenne patients remotely with answers to questions about the disease.
“Most of the people we help are in the US and Mexico, and we also have people from Argentina, Cuba, El Salvador, Nicaragua, Honduras, and even Brazil,” said Leal, whose background is in marketing and public relations. “I don’t even know how people from other countries find us.”
Meanwhile, back in Costa Rica, Derek still walks, but very little these days because his calves tire after only 10 minutes. Usually, he tools around on his power wheelchair, which even sports its own custom-made Costa Rican license plate, “DPB-777” bearing the boy’s initials.
“Derek likes video games, but at school it’s been a little complicated,” his father said. “He’s happy, but it’s a little difficult for him to make friends. His kindergarten teacher thought he had autism because he stayed apart from the other kids. But that’s normal for his condition.”