Ecuadorian infant needs $2.1 million therapy for rare muscle-wasting disease

By Susana Madera

Quito, Jul 22 (EFE).- The parents of Nohelia Valverde, a one-year-old Ecuadorian girl with spinal muscular atrophy type 1, are in a race against time to raise the $2.1 million she needs for a promising gene-therapy medicine.

The infant lacks a gene needed to codify the signals the brain sends to control different bodily movements, a disorder that doctors discovered when Nohelia was eight months old, her father, Cesar Valverde, told Efe.

People born with this severe form of SMA often succumb to the illness before the age of two (including three babies who died in Ecuador in recent days), so there is no time to waste, he said.

The young child, whose muscles are growing weaker due to lack of use, already has great difficulty holding her head up. And her situation will likely worsen further without access to a drug – Zolgensma – that is prohibitively expensive and is not included on the Ecuadorian health system’s list of basic medications.

“We’re extremely desperate, trying to see what we can do. We’re like in a limbo. There have been no answers, and it’s been a very long process,” Valverde said of the efforts he and his wife have made to seek a solution via both public and private channels.

He said his family has obtained an import registration certificate for the drug, which is applied in a single dose to manage the symptoms of and prevent further complications from that rare genetic disease, which currently has no cure.

Nohelia appeared to be a healthy baby during her first three months of life, but at the age of four months she began suffering a hip problem that required the placement of a splint. The young girl’s body then began to steadily deteriorate further.

Several doctors visited her in the ensuing months until a geneticist confirmed the diagnosis. Since then, a range of specialists – cardiologists, pulmonologists, endocrinologists, gastroenterologists and neuropediatricians – have examined the young girl and sought to treat the genetic disorder, which has an incidence of roughly one in 10,000 live births.

The girl is “quite happy” despite her condition and likes to play and be taken for a walk, her father said. “What I like the most about her is that she’s a fighter. She’s doing all she can.”

“She hasn’t given in. There have been other kids who at her age have been in really, really bad shape, but she’s fighting. She makes a big effort to lift up her head,” Valverde said.

Cesar, 32, and his 26-year-old wife, Adriana, work several jobs, but their combined earnings amount to only about $1,000 a month. The couple has succeeded in covering the cost of their daughter’s medical bills thanks to raffles, food sales and charitable donations, but nothing has been raised to pay for the potentially life-changing Zolgensma, a drug they are pinning their hopes on despite its potential side effects.

“You have to take the risk. They’re our kids, and we can’t give up easily. We’re willing to try anything. God has helped us and we’re always praying that there’ll be that divine help for our children,” Valverde said, referring to other families who are also in the same situation.

Besides their daughter’s medical expenses, Nohelia’s parents also use their monthly earnings to pay the cost of rent, food, basic services and the education of their other daughter, five-year-old Valentina.

Valverde said he believes the international foundations who typically assist with these complex cases are now focused on supporting people affected by the Covid-19 pandemic, adding that he hopes a meeting on Thursday with Ecuadorian authorities will yield something concrete.

“I’d like for them to tell me that an agreement with the pharmaceutical firm is now in the works, whatever it may be, because this has really become agonizing,” he said, adding that two other parents with children suffering from SMA type 1 also will join him at the meeting.

Health Minister Ximena Garzon, for her part, said Ecuadorian authorities are maintaining their contacts at the international level and that a plan is in the works to create a fund in the near future to assist patients with rare diseases.

Valverde and his wife, meanwhile, will continue to count the days, hold out hope and plead with the government to act quickly. EFE

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