‘They think one healthy X chromosome is enough’

Russians doing battle with rare diseases are also fighting government officials to get the medications they need

There are many people in Russia battling rare diseases. But no one knows exactly how many. Their treatment is often expensive with some drugs costing millions of rubles. Though the Russian state claims to be helping them, in practice its officials find many ways to “save money” on such people — in some cases, they even ignore court rulings obliging them to provide seriously ill patients with necessary medicines. Meduza investigates why this is happening and whether there might be a way to fix it.

Please note. This article was originally published on April 14, 2021. You can read it in Russian here.

Medicines denied

In late March 2021, a St. Petersburg court ruled against Svetlana Gepalova for the second time. She had petitioned for the city administration to pay for her son Kostya’s Zolgensma — the most expensive drug in the world. It’s used to treat spinal muscular atrophy (SMA) and costs around $2 million per injection.

Svetlana has been suing the St. Petersburg authorities since 2020. At the time, doctors in St. Petersburg had recommended Zolgensma for her son and expected her to gather the funds to pay for it herself — through charities, for example, like the loved ones of many other SMA patients. But Svetlana petitioned for the money to come from the city budget. The St. Petersburg authorities turned her down, citing the fact that the drug isn’t registered for use in Russia and that her son would soon turn two, the age cap for the use of the drug in the United States. The court sided with the government officials.

Undeterred, Svetlana filed a second lawsuit. She referred to the medical opinion of doctors from Kazan, who wrote about the European approach to this treatment, which is based on the child’s weight rather than their age. Svetlana also sent in similar “second opinions” from American and German doctors, but once again the court sided with the city administration. Now, Svetlana is trying to raise the money to pay for the medication on her own. Kostya is two and a half years old — when he was born, the doctors told Svetlana that her son would only make it to the age of two.

The Volkov family was supposed to receive their required doses of Fabrazyme on April 6, but officials in the Vladimir region still haven’t provided the medicine — apparently, they haven’t even ordered it yet.

Fabrazyme helps to treat Fabry disease, a rare genetic condition that Svetlana Volkova, her brother, mother, and son were all diagnosed with in July 2020. “You need to take it [Fabrazyme] twice a month for life. [It costs] about 12 million rubles [$157,000] per person annually,” Svetlana told Meduza.

Be that as it may, it’s impossible to get this medication, even with a prescription. As a rule, Russia’s regions argue that their budgets are too small to pay for costly drugs such as this one. In 2019, the Vladimir region paid for just 18 percent of the total purchases of high-cost medicines, the rest were paid for from the federal budget, according to the State Duma Committee on Health Protection’s Expert Council for Rare Diseases.

The Volkovs won a lawsuit against the regional authorities earlier this year. However, the Vladimir region’s administration still has failed to provide them with the medication.

“I had to involve the local Civic Chamber. So my brother and son receive four bottles each. Mom and I aren’t being treated because we’re women. They think it’s enough for us to have one healthy X chromosome out of two,” she explained.

While trying to get their prescribed medication, the Volkovs’ health deteriorated. Svetlana’s brother experienced kidney failure. Her mother had a stroke. Her son developed depression and started experiencing heart problems. Svetlana has begun to experience burning pain in her extremities, along vein inflammation related to blood clots.

The Vladimir regional administration has already been fined for failing to fulfil the court’s order. But the interruptions of drug supplies have continued and the local health authorities are challenging the fine in court.

Marina Kondratyeva from Chita is unsuccessfully fighting for another drug — Vimizim. It’s used to treat Morquio syndrome, a rare metabolic disorder that Marina’s daughter Dasha was diagnosed with in 2006, at the age of four. The family didn’t find out about Vimizim until 2015, when it was prescribed to Dasha at a pediatric research institute in Moscow. Four different doctors from federal clinics told Dasha’s parents that she needed to be prescribed this specific drug. At the time, this would have cost them around 40 million rubles a year (that’s $524,000 by today’s exchange rate).

But in 2015, Vimizim wasn’t registered for use in Russia, and the Kondryatyevs were required to consult with another panel of doctors — this time, at the regional level. According to Marina, the Health Ministry told the family: “There’s no money to buy the medicine, and generally speaking it’s unregistered and life-threatening.”

Marina Kondratyeva continued to fight, but her daughter was never given Vimizim. “As a result, her eyesight and hearing deteriorated, and there were changes to her heart. Her liver and stomach are suffering, the abdominal pain is constant,” Marina told Meduza.

In another attempt to get the medication, the family has tried to change their registered address to a friend’s house in Moscow, “because no one here with this diagnosis is denied this drug.” However, the change of address has yet to go through and Dasha still hasn’t received the medication. In the meantime, she has turned 18 — her parents have been trying to get her the right treatment for six years.

In conversation with Meduza, Elena Khvostikova, the director of the NGO “Genom,” which helps people with genetic diseases, underscored that it’s even more difficult for adults with rare disease to obtain expensive medications, since children are given priority. “There are only 40 people with [Morquio syndrome] in the whole country. Among them, only three are adults. They’ve already been swept aside. No one treats them,” she said.

Who should pay?

Russia’s regions are supposed to pay for expensive medicines for local patients, in accordance with Russian Government Decree No. 890 of 1994. The Constitutional Court confirmed this in a July 2013 ruling, prompting the Health Ministry to send a letter to the regions.

However, because the regions are often short on funds, Russia also has the “14 high-cost nosologies program.” Treatment for the diseases included on this list is paid for via the federal budget. More than 60 billion rubles (approximately $800 million) was allocated to this program in 2021.

Over the years, the share of the federal budget allocated to procuring drugs for people with rare diseases has increased, according to the Russian State Duma’s “Yearly Bulletin on Rare Diseases.” In 2018, the federal budget covered 64 percent of these costs. At the same time, regional spending on patients with rare diseases has also gone up. In 2012, subsidizing medicines accounted for 6 percent of regional spending; in 2018 it was 17 percent and in 2019, 12 percent.

Nevertheless, people often have to turn to the courts to obtain the drugs they need. The number of such cases has remained relatively steady over the years: there were 69 considered in 2017, 81 in 2018, and 49 in 2019. The State Duma’s Expert Council for Rare Diseases linked the drop in cases in 2019 to the expansion of the federal government’s “14 high-cost nosologies program.” On the other hand, the expert council underscored that the judicial practice for cases like these has yet to be studied, and the Russian Supreme Court hasn’t outlined a procedure for their consideration. (Meduza reported in detail on the case of Nastya Karlash, whose fight for necessary medicines made it all the way to Russia’s Supreme Court).

Farit Akhmadullin, the president of the non-profit organization “Spasti i Sokhranit,” has been representing the interests of people with serious illness in court for more than five years. In conversation with Meduza, he noted that more often than not, the courts reject these cases on formal grounds — for example, due to an error made in a document.

Patients often see their health deteriorate further as they spend years fighting for the medications they need — and more serious complications mean even more expensive drugs.

Though patients often win their court cases in the end, Akhmadullin says, not all regions comply with these rulings. Then, you have to appeal to the European Court of Human Rights, which can oblige the Russian authorities to urgently issue the medication.

In theory, government officials who fail to provide necessary medicines can face criminal liability — such as felony negligence charges. However, there is no established judicial practice in such cases as of yet.

Circle of Kindness

According to the European non-profit organization Eurordis, there are approximately 6,000 known rare diseases. They affect hundreds of millions of people around the world — between 3.5 percent to 5.9 percent of the global population.

The Russian Health Ministry recognizes just 265 of these illnesses and, according to official estimates, they have been diagnosed in approximately 15,800 Russian citizens; 7,600 of these patients are children. Other sources estimate that rare diseases affect a far greater number of people in Russia (up to 1–1.5 million), tens of thousands of whom, including children, do not receive the medical care they need.

In 2021, Russian President Vladimir Putin signed an executive order on establishing a foundation called the Circle of Kindness to help children with rare diseases, financed through an increase in personal income tax for Russia’s high-earners.

In conversation with Meduza, Genom director Elena Khvostinkova emphasized that the foundation’s activities have already achieved some initial results. For example, purchasing drugs for some SMA patients. However, many people with rare diseases are still going without treatment, she added.

To resolve the problem, the Russian State Duma’s Expert Council for Rare Diseases has proposed adopting a ten-year “national strategy in the field of rare diseases,” as well as developing a corresponding federal program.

That said, the council also emphasizes that there isn’t a state in the world today that is able to provide all patients with rare diseases all of the medicines they need. The World Health Organization has also addressed this issue: “Not one of the 27 EU member states, no matter how large, can offer treatment for the full spectrum of rare diseases.”

Story by Sergey Kagermazov

Abridged translation by Eilish Hart