Rae village resident Sebastian has Duchenne muscular dystrophy (DMD), an inherited condition that progressively weakens the muscles and can eventually stop the person's heart and lungs. On Wednesday, a fundraiser was announced to help cover the staggering cost of treatment.

The boy dreams of running like his younger brother Oskar, but for now he can only join his family for walks in a pedal car. He wants to become a dog trainer one day.

When Sebastian was two and a half years old, one of his kindergarten teachers noticed he struggled to climb a sledding hill.

"It's like he was trying, but something was stopping him," recalled Sebastian's mother, Maile-Triin Nõlvak.

"He wanted to join the other kids, but it took him much longer," added his father, Ilmar Veiman. "Those were the first signs."

Early physiotherapy and checkups suggested nothing serious, as Sebastian was still young and developing.  

In fall 2020, routine blood tests revealed high liver values, and the family was referred to Tallinn Children's Hospital. After several days of testing, doctors suspected Duchenne muscular dystrophy (DMD).

Shocking diagnosis

"Duchenne muscular dystrophy is an inherited muscle disease caused by mutations of in the dystrophin gene," explained Katrin Õunap, clinical genetics professor at the University of Tartu. "As a result, dystrophin — the most important and vital muscle protein — loses its stability, and muscle tissue is replaced by fat tissue."

"In other words, first you lose your legs, then your arms, then you develop breathing problems, then heart problems," Sebastian's father summarized. "And the main cause of death in these kids is respiratory failure — they simply stop breathing."

"Every sentence the neurologist spoke about the disease, its progression and life expectancy felt like the world was collapsing," his mother recalled.

She and her husband learned that children with DMD typically end up wheelchair users in their teens, with an average life expectancy around 30 years.

The initial shock then gave way to determination. The family began searching for treatment options worldwide, consulting hospitals, pharmaceutical companies, Estonian doctors and other families with the same diagnosis.

Although initially told there was no curative therapy, they pinned their hopes on new drugs still in testing, as Sebastian continued physiotherapy and taking vitamins.

"It's said steroid therapy might slow or delay disease progression, but should be started as early as possible," Veiman explained. They decided against it because it could cause bone thinning or weight gain, making movement even harder for Sebastian. They chose to wait for new options.

Promising gene therapy

Sebastian was diagnosed at age five. At eight, he started regular school with a support aide and simplified curriculum in some subjects. This fall, he started third grade.

Meanwhile, a drug once in clinical trials has been approved in the U.S. and a few other countries outside Europe: Elevidys. Nearly a thousand children and young men have received the gene therapy.

According to Õunap, the results have been promising: for most, the drug helped stop the disease's progression, and in some cases, even helped restore some functionality. Even so, she cautioned that the long-term effects remain uncertain.

"The principle is that if we alter someone's gene, we must deliver the altered gene into the body, using viruses — most commonly adenoviruses," the professor explained. Because dystrophin is one of the largest human genes and doesn't fit inside the virus, the therapy produces a shorter version called micro-dystrophin.

"That's why we can't yet know exactly how long or how effective this therapy will be," she said.

After getting in touch with hospitals in the U.S. and Dubai, where treatment is available, the Veimans traveled to Dubai in January to test Sebastian's eligibility.

"We went to a lab, I got a shot, and they checked if the drug was suitable for me," he said. "A couple weeks later, they said it was."

His father added that consultations with hospitals in the U.S., Dubai, and Estonia's Tartu University Hospital (TÜK) and Tallinn Children's Hospital confirmed that the therapy could work in principle — if they could cover the cost.

The treatment, a one-time infusion, costs a staggering €2.5 million.

"I promised Sebastian that one day, when this drug comes, we'll do everything in our power to access it," Nõlvak said. "Any parent would do anything for their child, regardless of the cost."

Treatment denied

After returning from Dubai, the family applied to the Estonian Health Insurance Fund (EHIF) for funding, but the request was denied.

"We want to help everyone, and we understand the family's need," said Marko Tähnas, head of medicines and services at EHIF. But he said new treatments must first be proven safe, effective, and sustainable, making it accessible for others as well. "Cost only factors into the decision-making at the very last stage. The first question is whether we can be sure it will help and that it will do no harm."

With few options left, the Veimans decided to sue the health fund. Relatives mortgaged most of their real estate and business holdings to cover potential costs related to the court case.

"That was essentially the only option left to try," said Veiman. "Honestly, I think I did everything right — what any parent would do if they had even the slightest chance."

The last hearing in Sebastian's case was held at Tallinn Administrative Court last Friday.

"For someone else it may feel like a game — for them, our child's name is just another line in an Excel spreadsheet," Nõlvak said. "But he's a real kid."

EHIF experts remain cautious about Elevidys, noting three patient deaths in the past year. The drug was temporarily suspended in some countries, though the U.S. later cleared it for use again.

"At the moment, the EU hasn't approved it for two reasons: first, caution over those deaths, and second, the insufficient long-term evidence — how long benefits last and what happens in ten or twenty years," explained Õunap at the University of Tartu.

Estonia spends hundreds of millions in taxpayer money on medicines each year. At €2.5 million, Sebastian would be the most expensive one-time-dose patient.

Even so, there are drugs that cost even more over longer periods. Depending on what's included, EHIF invests well over €10 million annually in rare-disease treatments.

"For example, for spinal muscular atrophy patients we pay hundreds of thousands, sometimes more than a million euros per patient in total," Tähnas explained.

"We have drugs we pay over €7 million annually for — with around 40 users," he continued. "We have drugs costing €3 million a year for around 20 users. There are quite a few such cases, especially for rare diseases — people unlucky enough to draw the short straw of a rare diagnosis."

Half of cost already pledged

Despite the risks, the Veimans are ready to stake Sebastian's life on Elevidys, and the race against the clock is on.

Over the past nine months, Sebastian's health has worsened, his mother explained, and he is now unable to climb onto the couch, get up from a chair or use the toilet independently.

"The disease has reached an advanced stage," his father stressed. "Treatment is only possible today for kids who are still ambulatory."

As long as Sebastian isn't in a wheelchair, intervention is still possible, and they can continue to try to preserve his muscle function and abilities — and extend his life expectancy."

In Estonia, there are ten known cases of children with DMD who can still walk. Three already receive treatment, leaving seven potential candidates for the new treatment, including Sebastian. Veiman said if the remaining children qualify, treating all of them at once would be far more cost-effective for the state and donors alike.

After knocking on doors of various agencies and potential helpers, exhausting other options, the family launched a public campaign with the Tallinn Children's Hospital Foundation, which pledged half the funds. The Veimans are appealing for the remaining €1.25 million.

"We want to try every option in the world to help our child — every option," Nõlvak said. Any extra funds will go to other children in need.

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