“We are grateful to everyone who helped”: a boy from Russia was saved from a deadly disease

The first signs of a deadly disease began to appear in Timur at four months. He became lethargic, did not try to get on all fours, could not sit without support and most of the time lay on his back.

“We sounded the alarm, started going to the doctors. At first, we were reassured and said that it was normal, “the boys are sometimes lazy,” Timur’s father Artyom Dmitrienko tells RT. “We did massage, physical education, but nothing helped.”

At eight months old, the boy had a genetic analysis. The study showed that Timur had spinal muscular atrophy (SMA) of the first type.

200 children per year

A person with SMA has a damaged gene that encodes a protein that is responsible for the functioning of motor neurons that provide motor coordination and support muscle tone. Gradually, the muscles atrophy, the person weakens, loses the ability to move, and then breathe. At the same time, the brain of patients is functioning normally - people with SMA become hostages of their body. Type A SMA appears in infancy. About 50% of these patients do not live to two years, almost no one lives to five.

932 people with this diagnosis are registered in the register of the Russian Foundation for SMA Families, of which 743 are minors. The fund notes that there may be more such patients in Russia. According to the organization, every year in our country about 200 children with this disease are born, and the total number of patients can vary from three to five thousand.

“When the diagnosis was confirmed, we were shocked. It seemed impossible to us that Timur was sick. In the first week, we thought the situation was hopeless. Then they began to come to their senses, they realized that there are methods of treatment. Moreover, we learned this information ourselves - the doctors, it seems, did not really understand how to treat SMA, ”recalls Artyom.

Two options for treatment are now available for patients with SMA. In August last year, the drug Spinrase was registered in Russia. They need to carry out therapy for life. The first year of treatment costs about 45 million rubles, then the treatment costs 20 million rubles a year.

In 2019, the drug Solgensma was approved for use. The medicine is considered the most expensive in the world - the cost of one injection is from $ 2.1 million to $ 2.5 million. “Solgensmu” is required to be introduced into the patient’s body only once, but this must be done before the age of two.

The medical council appointed Timur "Spinraz". The boy’s parents were promised that they would give the medicine at the end of December or January, but this didn’t happen, and they decided to independently raise funds for Zolgensmu.

“Fraudsters attacked every week”

To start raising funds for the drug, you need to get confirmation from the clinic that the child is ready to accept for treatment. Currently, Zolgensma injections are carried out only in medical facilities in the USA. On December 12, one of the clinics sent an invoice to the Dmitrienko family with an amount of $ 2.5 million (at the exchange rate at that time - 152 million rubles). On the same day, Artyom and his wife opened a fundraiser for Timur in social networks.

“It was necessary to reach as large an audience as possible, so we turned to charity foundations, we knocked in person to famous people with a request to support us informationally,” says Timur’s dad. “Then we found out that there are other families that collect money to treat their children with SMA, and began to communicate with them, learn how to conduct social networks.”

In the first month, the collection was slow - at first only friends and relatives of the family spoke about Timur and his misfortune. On January 16, Timur’s parents wrote that he is weakening every day, and the collection is going very slowly: “Now he can’t pull the pen out from under him when turning over.” ⠀

The gathering accelerated when more famous people and their subscribers found out about Timur. Two times very large donations came to the account, which closed at 40% of the required amount. The first such transfer was received on February 14, the second - two weeks later.

“Of course, everyone pays attention to large donations - they are colossal, but we are grateful to everyone who provided assistance. Donations were very different: 60 million rubles and 11 kopecks were credited to the account, ”says Artyom.

However, there were those who were not going to help at all. According to Artyom, every week their family was attacked by scammers: they called on behalf of the bank, offered to invest in cryptocurrency, created fake pages on social networks on behalf of Timur's parents, publishing his photos and collecting them for “treatment”.

“We would like to identify SMA earlier”

The family closed the meeting on February 28, but the difficulties did not end there.

“We contributed 152 million rubles to the clinic’s account, and in the evening of the same day, the dollar against the Russian ruble grew and we again lacked several million. We urgently went to another clinic, where the bill for treatment was less. While we were negotiating with them, we found out that due to the coronavirus pandemic, countries are closing their borders and we most likely will not get into the US, ”recalls Artem.

By this time, Timur was already more than a year old. With SMA, it is important to start treatment as early as possible. The more motor neurons die before the start of treatment, the harder the patient will undergo recovery. In March, Timur stopped rising on his hands and holding his head, lying on his stomach. The boy's muscle corset weakened, he began to stoop. Almost all the time Timur was lying on his back, although at that age his peers were already walking.

Nevertheless, Timur was lucky - in 2020, the manufacturer of Solgensma, Novartis, for the first time decided to supply the drug to the territory of the Russian Federation. 

“Since the company made a direct supply of the drug, its cost decreased to 2 million 125 thousand dollars. But by that time, the exchange rate had changed again so that we already lacked 18 million rubles! It was a shock, ”says Artyom.

Just at the end of March there was a strong jump in currency when the dollar was worth almost 80 rubles. The family again turned to the patron, who in February transferred a large amount and closed the fee. The philanthropist did not refuse this time either.

Meanwhile, Zolgensmu was delivered to the country, Russian doctors were trained to administer the drug. On April 6, Timur received a long-awaited injection. In addition to him, two more children received the medicine.  

“Timur was the first Muscovite to receive an injection. When the drug was administered, it immediately became easier - it was clear that the disease would cease to progress. Now much depends on the body of the son. The surviving motor neurons will develop the protein necessary for the muscles, and we will gradually restore the lost skills with him, ”says Artyom.

The Dmitriyenko family plans to take an SMA test during their next pregnancy. This disease can be detected in a child before birth, but in Russia such a test has not yet been included in mandatory prenatal screening. Although, if you diagnose this disease before the first clinical symptoms appear and provide the child with treatment, he will be able to develop as a normal child without an illness. He does not need a corset, continuous exercises to support muscle tone, an artificial respiration apparatus.

“We still regret that we lost a lot of time in the diagnosis. SMA was confirmed at Timur only in nine months. If we knew about this earlier, we would have started collecting faster and were able to conduct treatment before losing important motor skills, ”concludes Artyom.

Despite the time lost, Timur's parents believe that in two years their son will be able to run. Artyom is a fan of the Spartak hockey club and dreams of giving his son to the sports section when he grows up.