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 US Representative Ileana Ros-Lehtinen of the Republican Party from Florida’s 27th district. 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.

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