By all appearances, Melva Fernandez is a typical 7-year-old girl. She adores the Disney movie Frozen, loves dolls and video games, and is—occasionally—a bit naughty.
But unlike other children her age, Melva has battled a mysterious and difficult-to-treat form of tuberculosis for six years, and has already swallowed more medication than the average person will stomach over a lifetime.
Melva and her family have chased a cure from her rural home outside Cuzco, Peru, to the capital of Lima, then on to the United States and back. With support from Socios En Salud, as Partners In Health is known in Peru, the root of her problems—a rare immunological disorder—was finally diagnosed and is being treated successfully. Time will tell if more drastic measures are necessary. One thing remains true through it all: this little pony-tailed girl just wants to feel better.
A curious case of tuberculosis
Melva was 10 months old when an odd lump developed in her armpit. Her parents took her to a clinic near their home, where staff diagnosed her with tuberculosis and placed her on antibiotics. She seemed to get better but, within months, her symptoms reappeared.
So Melva got a second round of treatment. Again she improved, only to relapse several months later. Her TB started manifesting throughout her body, an odd symptom in pediatric patients already on medication, as her belly grew painfully distended and more lumps developed in her neck and armpits.
This cycle of recovery and relapse repeated for years until Melva landed at the National Institute of Children’s Health in Lima in 2013. Staff placed her on a powerful cocktail of medication to treat multidrug-resistant tuberculosis (MDR-TB). When those failed to have a lasting effect, they switched to a more potent regimen for extensively drug-resistant tuberculosis (XDR-TB), the worst form of the disease. Again, she got better only to relapse months later, despite the fact she never missed a dose.
Dr. Leonid Lecca, the executive director of PIH in Peru, was making his usual rounds at the children’s hospital when he met Melva and her father. This specialist in TB and his PIH colleagues had earned a reputation for helping local physicians tackle particularly tough cases in the past. Around 80 percent of the children they’ve accompanied through TB treatment have been cured.
A bone marrow transplant is still on the table.
Yet Melva’s case was exceptional. Lecca consulted with Dr. Hernán Del Castillo, the physician tending to the little girl, and both suspected something was interfering with her previous treatments. They conducted a series of genetic tests over several months to see if they could pinpoint a solution. And they found one.
Last January, doctors diagnosed Melva with an extremely rare disease that prevents her immune system from responding to the bacteria that causes TB. No matter how many times her doctors threw the best medicine available at her illness, her body would not be able to launch a proper defense.
That left her doctors with two options, neither one viable for a family of subsistence farmers living in poverty. They could place Melva on interferon-gamma, an artificial protein key to the immune system’s ability to fight against TB, and costs $14,000 each week. Or they could enter her in a medical study.
If they chose the interferon route, the drug would have to be imported from the United States and kept between 2 to 8 degrees Celsius to remain effective. Dr. Silvia Chiang, a specialist in pediatric TB consulting on Melva’s case, chatted with an infectious disease expert in Houston about the possibility of shipping interferon-gamma to Lima. “He said people ‘get nervous even transporting the drug across town,’” she recalled. Shipping it to Peru was a non-starter.
The second option was a long shot. There was an observational cohort study for people living with rare diseases that Chiang had heard about through contacts in the infectious disease world. If patients were willing to travel, they could receive free care at the National Institute of Allergy and Infectious Disease in Bethesda, MD.
PIH Co-founder Dr. Paul Farmer visits Melva and her father during their stay at the National Institute of Allergy and Infectious Disease in Bethesda, MD. Photo by Katherine Kralievits / Partners In Health
A long shot cure
By early May 2016, Lecca, Melva, and her father, Carlos Fernandez, were on a plane to the United States to begin her new treatment. It was the first time either the little girl or her father had left the country.
Chiang started visiting Melva and her father regularly at the NIH Clinical Care Center in Bethesda. She got a kick out of the feisty little girl and felt sympathy for her father, who worried about responsibilities back home and grew increasingly tired of living far from the rest of his family. Luckily, PIH had already thought ahead; the organization was helping his family with food, transportation, and education expenses back in Cusco until the father and daughter returned home.
During one of Chiang’s regular visits, she picked up an important clue about Melva’s case. Her father thought she got TB from her grandfather. But the researcher doubted that could be true, considering he had been cured long before his granddaughter was born.
So how did Melva contract the deadly infectious disease as an infant?
Chiang remembered that Melva’s swollen lymph node hadn’t been far from where nurses injected her with the bacille Calmette-Guerin (BCG) vaccine, an immunization against TB often given to infants in countries outside the United States. This vaccine contains active strains of Mycobacterium bovis, which causes tuberculosis in cattle and is a cousin of the more common Mycobacterium tuberculosis.
If PIH is dedicated to helping somebody, it’s not going to stop.
The TB expert, alongside the NIH team, wondered if Melva was battling multidrug-resistant BCG, and not what she’d been treated for up to that point, MDR-TB. Experts at the facility ran a battery of tests, results confirmed their hunch, and they switched out one of the antibiotics Melva took. Meanwhile, they kept her on interferon-gamma to help address her immunodeficiency.
It was a slow and painstaking process, but Melva began to come around. While she and her father remained for months in the hospital, Peruvian staff there heard about the girl’s case and came by to visit. Some even brought traditional dishes, such as lomo saltado or aji de gallina, as a way to fill the void left by homesickness.
By October, Melva tested negative for BCG. Her doctors weaned her off IV medication and switched her to pills, all in anticipation of her transition back home. Still, they were hesitant to claim victory.
“A bone marrow transplant is still on the table,” Chiang said. “There is not a lot of experience in the world with her specific immunological defect. Whenever we don’t have a lot of experience, we’re always very careful about when and if you make that decision.”
A hesitant homecoming
In December, Melva and her father flew back to Peru. It had been nearly eight months since Fernandez had seen his wife and two sons, and he seemed anxious about what he would find. He wanted to check on his fields, make overdue repairs to the house, and find work again—something he hadn’t been able to do while at Melva’s bedside.
For her part, Melva was returning to a home and family she barely remembered, having spent the past three years in hospitals. The last time she’d seen her mother was before her trip to the U.S., and she hadn’t recognized her.
They arrived home with a three-month supply of medication and a plan to visit Cuzco every month for checkups. The hope is that her treatment will continue to work, and that Melva won’t suffer another relapse.
Meanwhile, her doctors are hedging their bets. Chiang sent PIH staff in Lima swabs and instructions for how to take saliva samples from Melva’s older brother, Juan Carlos. Should the little girl require a bone marrow transplant, her doctors think he would be the most likely match. Melva is scheduled to travel back to the NIH facility in coming months for a checkup to see if the procedure will be necessary.
“If PIH is dedicated to helping somebody, it’s not going to stop,” Chiang said. “We will pull out all the stops.”