A family carves out its own path in fight against 4-year-old's rare disease

Olga Estopinan, who tends to her son constantly, gives Arturito a kiss. Photo / supplied / Washington Post

Arturo Estopiñan stands at his son's bed, wearing a surgical mask and blue gloves. The boy, who has an extremely rare genetic disease that destroys muscles, has been unable to move or speak for three years.

Arturito was 1 when he was diagnosed with a disease caused by a disruption in the mitochondria, a part of the cell that supports growth. Only 83 such cases have ever been recorded. Doctors told his parents, Arturo and Olga, that there was no treatment and that he would die soon.

"They told us, 'There's no right or wrong answer - you don't need to continue,' " Arturo said. "But we refused to take our son home to die. We will fight with him."

Today, Arturito is enduring with the help of an experimental drug that only a handful of people in the world are taking.

The family lives in southeast Baltimore, close to the intensive care unit at Johns Hopkins Children's Center. Arturo, 50, commutes every day to Washington, where he works as chief of staff for Representative Ileana Ros-Lehtinen. Olga, 42, stays home to care for their son, an only child.

The Estopiñans' experience illustrates how families struggle to find help fighting diseases that don't attract a huge amount of research or specialised funding. It also shows how determined parents can forge a path for other families encountering similar obstacles. Not only did they agree to an experimental treatment and train their own nurses to care for their child, they also set up a foundation and website to assist research on the disease.

Arturito's signs of progress are small. He occasionally makes noises and slightly wiggles his feet. And when his arm is gently lifted up at the elbow, his index finger and thumb faintly move.

"We tell him, 'Yes, that's you! You're doing that!' " his father says, eyes beaming above the surgical mask he had put on because he thought he might have a cold coming on. "It's been a very slow progression over the last year."

Arturito seemed like any other child when he was born - happy and active. But during his first year, he grew weak and lost control of his muscles.

He was admitted to the hospital run by Children's National Health System in Washington, where the family was living at the time. The child was diagnosed with TK2-related mitochondrial DNA depletion syndrome, a genetic disease where proteins that help decode DNA break down. The disease is marked by severe weakness and is linked with Parkinson's disease, Alzheimer's disease and amyotrophic lateral sclerosis, also known as ALS.

Arturito's parents scoured the Internet and called paediatric hospitals across the country, despite being told that looking for help would only lead to discouragement.

Months after the diagnosis, the family contacted Michio Hirano, a New York neurologist at Columbia University Medical Center experimenting with a new medication, deoxynucleotide monophosphate, that significantly extended the life of mice that had been given the mutated gene.

An investigational drug such as this can be prescribed on a case-by-case basis under what is known as the Food and Drug Administration's compassionate-use rule. Once Hirano and his staff filed the required paperwork, the FDA gave the green light within days and Arturito was transferred to New York for a month of treatment in 2012.

Arturito was the first person in the United States to have the therapy; at least three other Americans are trying to join him. Elsewhere, at least six are using the drug.

Lorraine Whittlesley, a visiting neighbour, sings for Arturito, who is flanked by his mother, Olda Estopinan, left, and his grandmother Olga Fleites. Photo / supplied / Washington Post

"It's not a cure, but it is a treatment," Hirano said. "It has modest benefits, and we're working on ways to improve the therapy."

An estimated 25 million Americans suffer from about 7,000 rare diseases, which are defined by the National Institutes of Health as those affecting fewer than 200,000 people at any given time.

In many of these cases, patients are misdiagnosed because of the obscurity of the condition and told there is nowhere to turn, said Charles Mohan Jr., chief executive and executive director of the United Mitochondrial Disease Foundation.

"We get many calls from families saying doctors are telling them there's no cure, that they should bring their kids home and love them," Mohan said.

For these rare conditions, there are no nationwide centers or Internet campaigns with people dumping water on their heads to pull in money for the cause.

"When we went through this, we had no one - absolutely no one," Arturo said.

After the month in New York, Arturito was transferred to Hopkins, where pediatricians led by James Fackler administered Hirano's experimental treatment. While the Hopkins unit had experience treating children with other diseases affecting muscles, Arturito's muscle weakness was far more profound than other cases.

"Part of our challenge was to try to project where the disease is going to go," Fackler said. "When you're looking at a disease you've never seen before, it's a challenge."

After a little more than a year of hospitalisation, the boy improved enough by October 2013 to be brought to the family's new Baltimore home, where the parents had to learn how to deliver demanding care.

Fackler and his staff taught the Estopiñans how to refill the oxygen tanks and to rewire the circuits to his ventilator while doing routine maintenance on the device. The parents also know how to quickly pump air into their son's lungs manually whenever a breathing emergency arose. Over time, Arturo and Olga have passed along their knowledge to a constantly changing troupe of nurses who help them care for Arturito around the clock. Up to a dozen people are in and out of the family's apartment each day, administering treatments and refilling oxygen tanks.

"It's difficult to coordinate how many people come in," Olga said. "We're very grateful, but sometimes I think I don't have privacy in my own home."

Daily life revolves around Arturito's treatment, delivered every four hours. Olga meticulously keeps a detailed schedule - the drugs he takes, the food he eats, the cleaning he requires. Sleep is limited, and some days the parents go without. They often get up in the middle of the night to help nurses handle an emergency.

Tired of dressing Arturito in hospital gowns, Olga and Arturo buy regular clothes for their son, cutting the shirts open in the back so he can wear them without disrupting his medical equipment. Their goal is to make him feel as much like a normal child as possible, despite constantly needing a ventilator and being fed through a tube that goes into his stomach.

For Olga, this is a full-time job, replacing her previous position as a human resource assistant at IBM. That has put a major financial strain on the family, forcing them to rely heavily on Medicare and private insurance.

"Yes, there are improvements, but I get frustrated he's not improving fast enough," Olga said.

It's difficult for her to look at photos of Arturito before he got sick. She refuses to watch video footage of him from his first year of life.

The Estopiñans have had one advantage during their struggle: Arturo's job on Capitol Hill. That has given the family a reliable income and a boss who Arturo said has been very supportive of their situation.

The family set up its own foundation and a Web site so other families in the same position can find information about treatment and research. Arturo has publicized their experience and made contact with a few families across the world dealing with the same condition.

Most families dealing with rare diseases do not have the money or time to do the same.

"It's not difficult - it's impossible," Fackler said. Parents, he said, can be aggressive advocates for their kids, but they can accomplish only so much on their own.

Mohan said the communities and foundations that focus on rare conditions find it hard to mount concerted campaigns for assistance and even to collect the data needed for research.

The Estopiñans remain optimistic that someday there will be a cure for their son. They have promised to bring him to Disney World one day, and they have been encouraged by modest improvements in his condition. Arturito can now hum to "Hakuna Matata" while watching "The Lion King," his favorite movie.

Arturo Estopinan launches a kite for his son, Arturito, at a park in Baltimore. Photo / supplied / Washington Post

A teacher comes to the apartment for about an hour a week. Arturito can recognize numbers and colors, and the hope is that he eventually will be able to control a computer by moving his pupils.

"We hope that [what he had learned] gives him a sense of empowerment," his father said.

The parents say he is fully cognizant, responding to both English and Spanish: Wide eyes means "yes," a head shake means "no" and tongue clicking means "I want more."

The Estopiñans try to get Arturito out every day, strapping him to a wheeled bed and connecting him to a portable ventilator. Some days they go to the park outside their building to fly a kite, and other days they show him toys at the Target down the street. His room resembles an intensive care unit, but its walls are decorated in a nautical theme because he loves the water.

The parents are able to stand him up in a chairlike device for short periods. The best they have been able to do is to bring him almost fully upright for 15 minutes.

"It's only one of the few ways for us to hug him," Arturo said. "He likes that a lot."