It's living one day at a time
Juan Pablo has a severe metabolic neurological disease requiring tube feeding, strict ketogenic diet, and constant specialist care across multiple disciplines. The child must travel to Buenos Aires every six months for essential monitoring at a national pediatric reference center, with costs borne entirely by his family.
- Juan Pablo, age 10, from Hipólito Yrigoyen, Misiones
- Diagnosed at 8 months, confirmed at age 2: pyruvate dehydrogenase deficiency (PDHA1 gene variant)
- Tube-fed with specialized formula; strict ketogenic diet; multiple seizure and respiratory medications
- Requires care from neurologists, nutritionists, gastroenterologists, pulmonologists, physical and speech therapists
- Biannual appointments at Hospital Garrahan in Buenos Aires; next appointment June 16
Juan Pablo, a 10-year-old from Misiones with a rare incurable neurological disorder, requires financial assistance to travel to Buenos Aires for his critical biannual medical checkup at Hospital Garrahan.
Juan Pablo is ten years old. He lives in Hipólito Yrigoyen, a town in Misiones province, and he cannot eat like other children. A rare neurological disorder—one with no cure—has made his body unable to process food normally, so he receives nutrition through a tube that runs into his stomach. His mother, María Ofelia Grubel, has been caring for him around the clock since he was an infant, when the first signs appeared that something was wrong.
The diagnosis came slowly. At eight months old, doctors gave a preliminary name to what was happening inside his body. By age two, they confirmed it: a deficiency in an enzyme called pyruvate dehydrogenase, caused by a genetic variant in the PDHA1 gene. The technical language masks what the condition actually does. It is a metabolic neurological disease that has left Juan Pablo with severe muscle weakness from birth, developmental delays across every domain, seizures that require constant medication, and a complete dependence on others for the basic functions of living. He follows a strict ketogenic diet—the only food his body can tolerate is a specialized formula provided by his provincial health insurance. He takes seizure medications. He takes cofactors as part of an experimental treatment protocol. And still, there is no path toward improvement, no endpoint where he might recover.
María Ofelia describes the reality with the calm of someone who has learned to live inside uncertainty as the only available choice. "It's a neurodegenerative condition," she explained. "The treatment is just to keep the vital functions going." The risks are constant: his weak muscles mean he cannot clear fluid from his lungs, so he is always at risk of aspirating food or saliva into his airway. Seizures come without warning. Respiratory complications are not a possibility—they are a statistical inevitability. "It's living one day at a time," she said.
Juan Pablo requires the attention of an entire medical team. Neurologists monitor his seizures. Nutritionists manage his feeding protocol. Gastroenterologists oversee his tube placement and digestive function. Pulmonologists watch for respiratory decline. Physical therapists and speech therapists work to preserve whatever function remains. This is the infrastructure required to keep a ten-year-old boy alive when his own body cannot manage the work alone.
Every six months, Juan Pablo must travel to Buenos Aires for a checkup at Hospital Garrahan, one of the country's most important centers for complex pediatric diseases. The appointments are not optional—they are the only way to monitor whether his condition is stable or worsening, to adjust medications, to catch complications before they become emergencies. In the early years, these trips happened monthly. Then they stretched to every two months. After the pandemic, the schedule settled into its current rhythm: twice a year, a journey of several hundred kilometers that his family must pay for entirely out of their own resources.
On June 16, Juan Pablo is scheduled for his next appointment. His mother is asking for help. The family has opened a crowdfunding channel—an alias through which anyone who wants to contribute can send money to cover the cost of the trip, the transportation, the accommodation in the capital while they wait for test results and specialist consultations. The appeal is quiet and direct. There is no drama in it, no plea for sympathy. It is simply the statement of a fact: a child needs to see his doctors, and his family cannot afford to get him there alone.
Notable Quotes
It's a neurodegenerative condition. The treatment is just to keep the vital functions going... It's living one day at a time.— María Ofelia Grubel, Juan Pablo's mother
The Hearth Conversation Another angle on the story
What does it mean that there's no cure? Does that mean the doctors can't help him at all?
The doctors help constantly—they're just managing, not healing. They keep his seizures controlled with medication, they make sure he's getting enough nutrition through the tube, they watch for infections and breathing problems. But the underlying genetic problem, the thing that broke his metabolism in the first place, that can't be fixed. So the goal is to keep him stable, to catch problems early, to give him as much function and life as possible. But there's no endpoint where he gets better.
His mother said it's living one day at a time. What does that mean in practical terms?
It means you can't plan too far ahead. You don't know if he'll have a seizure tomorrow, or if his lungs will start failing, or if an infection will become serious. You manage what's in front of you today. You give the medications, you feed him through the tube, you watch for signs of trouble. The uncertainty is the constant.
Why does he need to travel to Buenos Aires every six months? Can't they do the monitoring closer to home?
Hospital Garrahan is a national reference center—it's one of the few places in the country equipped to handle cases this complex. The specialists there understand metabolic neurological diseases. A local hospital might not have the expertise or the equipment. So the family has to make the journey twice a year, and they have to pay for it themselves.
The mother is asking for money publicly. How does that feel, having to do that?
She doesn't seem to be asking for pity. She's just stating the situation: the child needs medical care, the care costs money, the family can't cover it alone. It's a practical problem that needs a practical solution. The crowdfunding is just the tool available to her.
What happens if they can't raise the money for the trip?
The appointment gets missed. The specialists don't see him for another six months. Problems that could have been caught early might go unnoticed. For a child with this kind of condition, missing a checkup isn't just inconvenient—it's a real medical risk.