Life is the cost of one injection: a little boy from Odesa will become the third Ukrainian child who will receive the world’s most expensive injection.
Such children in Ukraine are called emoticons. They got this nickname because their diagnosis is spinal muscular atrophy (SMA).
Despite this very cute nickname, spinal muscular atrophy has been called the number one killer of hereditary diseases. One out of 6,000-10,000newborns will be born with SMA. Half of these children will die before they turn two years old, but the disease can make itself felt even at an older age. For the treatment of this rare genetic disease, the most common drug Spinraza requires $750,000 in the first year alone, then $375,000 each year.
And so on until the end of life.
But medicine does not stand still and an innovative drug Zolgensma (Novartis) appeared in the United States. It is already listed in the Guinness Book of Records as the most expensive medicine in the world. One bottle costs $2.3 million. It is administered to the patient once. Due to the fact that the cost of such medicines is catastrophically high, Ukraine cannot commit itself to provide patients with free treatment. The inhabitants of our country in the literal sense of the word have to ask the whole world for money to save their children.
Read more here: Ukrainian family in a battle to raise $2.3 million to save their son
Genetic killer
Ukrainian geneticist Olha Yarychkivska has been living in the United States for over 15 years. Here she graduated from Columbia University and received her Ph.D. in genetics. She has been engaged in scientific activities for 12 years. For the past two years at Rockefeller University in New York, she has been studying how cell death is genetically encoded. We met Yarychkivska at the moment when we learned that in the USA there is the most expensive drug Zolgensma, which can save young Ukrainian children with spinal muscular atrophy.
“Zolgensma is truly a scientific breakthrough for treating SMA. In the United States, it was approved only three years ago. It really heals and gives a chance to life for children who previously could not live without mechanical ventilation. The sooner the child receives this life-saving injection, the faster and better the progress. This drug is for stopping the disease, not for complete healing. But I want to emphasize that age is absolutely critical. The sooner you receive Zolgensma, the faster and better the recovery of motor skills and the normal development of the child. The ideal would be to conduct genetic screening in newborns for the SMN1 gene (survival of motor neuron), and to inject Zolgensma immediately, even before the onset of symptoms of the disease. Such children would be able to develop normally, just like their peers,” says Yarychkivska.
Spinal muscular atrophy is a purely genetic disease. SMA is caused by mutations in the SMN-1 gene. It codes for a protein required for motor neurons to function. SMA patients produce less protein than is required, and without it, motor neurons are destroyed, the muscles do not receive the correct signals from the brain, they lose mass and weaken. Children cannot breathe, swallow on their own, the work of internal organs is disrupted. The life of such families turns into a real hell.
The most severe form of SMA is type 1. This is an infant form of Werdnig-Hoffmann disease. Children receive such a broken gene only from both parents, although they may have no symptoms at all. If dad and mom are carriers of spinal muscular atrophy, then every fourth family is at risk of giving birth to a child with SMA.
“Several years ago there was a scandal with an insurance company in the USA. She refused to cover the cost of purchasing a Zolgensma injection for an American toddler with SMA. Then, under pressure from the public, the insurance covered all the costs of purchasing the drug. But even here in America, the acquisition of Zolgensma by insurance companies is very individual. Therefore, the whole world has to save Ukrainian children with SMA,” said a researcher at Rockefeller University.
How do people with SMA live in Ukraine?
Spinal muscular atrophy is classified as a rare disease. The Ministry of Health of Ukraine does not register such patients. “There are no statistics — there are no patients who need to be treated at the expense of the state,” says Vitalii Matiushenko, president of the Children with Spinal Muscular Atrophy Foundation. Today he is raising an 18-year-old daughter with SMA.
His fund is the only source in Ukraine for statistical information on people with SMA. This is an online registry that changes dynamically depending on some factors: death of a child, departure of a patient abroad, withdrawal of an incorrectly established diagnosis.
“There are now about 250 patients in the cartulary who have a confirmed diagnosis of SMA at the DNA level. These are adults and children who are in Ukraine. Another 52 families went to Poland and Hungary for treatment. There may be more of them, but there is no connection with some families. All of them, as a rule, never return to Ukraine. All Ukrainian children are treated at the expense of EU taxpayers. One of the parents must be employed in a European country, pay taxes and insurance. In this case, each patient receives Spinraza at the expense of the state,” notes the president of the Children with Spinal Muscular Atrophy Foundation.
In January 2020, Spinraza was registered in Ukraine. The registration method is divided into the American and European markets. Ukraine does not belong to any of them. In order for a drug to qualify for the possibility of paying for treatment at the expense of the state budget, it must be registered. But there is still no access to treatment. The money to pay for this medicine and another one — Risdiplam — is not provided in the Ukrainian budget.
“Despite the petition to the Ukrainian government, which collected 25,000 signatures, no money was allocated for the treatment of SMA patients. We have been accustomed to feeding on promises for more than a hundred years, starting with the October Revolution of 1917. We are being fed with some kind of future documents, according to which we may be able to get access to treatment. For example, in Poland, since the registration of Spinraza, funding from the state budget was made in three months. And two months later, the first injection was already delivered. A year and a half have passed since the registration of the drug in Ukraine. Our children are not treated,” says Vitalii Matiushenko.
Our child was saved by ordinary people from all over the world
Last summer, a young family from the small town of Tavriisk in Kherson Oblast, Daria and Eduard Sakhno, had twins: a son Nazarchik and a daughter Mashenka. Three weeks later, the parents discovered that the girl was completely weak, stopped moving her arms and legs, and began to breathe with her tummy.
“The doctors couldn’t explain anything to me. They could not prescribe the treatment. We were offered to issue Mashenka with a disability and seek advice from a geneticist in the capital “Okhmadet”. I found all the information on the Internet, and out of all three therapies I chose Zolgensma. SMA was confirmed only in my daughter. We thought that raising money for an injection would take a year or more. The hope was to have time to stage it before Mashenka was two years old. Our relatives helped us, then friends, ordinary people from our town joined, and then the whole Ukraine and the whole world joined. We never received financial assistance from the state,” says Daria Sakhno.
The money for an injection of Zolgensma for Mashenka was raised in four months. The gathering was closed on December 30, 2020. Due to the girl’s grave condition, the Novartis manufacturing company decided to bring the drug to Ukraine. On February 10, Maria Sakhno became the first Ukrainian child who received a Zolgensma injection.
“Two months after the injection, Mashenka showed significant changes. She is active, learns to swallow saliva, raises her arms higher than before, and began to move her feet. Instead of 3-4 hours of feeding, this procedure now takes us up to 40 minutes. We still continue to breathe with the apparatus during sleep. The intercostal muscles are still too weak, and the chest is not developed. But everything that we have seen already in two months is a big breakthrough for a child. Our child was saved by ordinary people from all over the world. You have to knock everywhere and several times and believe in the kindness of people,” adds Daria Sakhno.
The second child in Ukraine was the one-and-a-half-year-old Elisey Zelensky from Donetsk Oblast. The Zelensky family, like Sakhno, raised money for Zolgensma all over the world, but a real miracle happened. Elisha won the Zolgensma injection in the Novartis lottery. In this Zelenskiy was helped by the head of the Kiddo Foundation, Hanna Yermolaieva.
Our family’s mission is to save not only our son
A month and a half ago, Ukraine began to actively raise money for a three-month-old Odesa resident Dmytro Svichynskyi. Now the baby is already four months, and the Zolgensma injection needs to be given before he turns six months old. During the gathering, people collected a colossal amount. As of April 14, it amounted to 23, 638, 498 hryvnias or $844, 232. This is 36.3% of the total amount.
Thousands of people are participating in the collection. The Save Dmytro — Fighting Spinal Muscular Atrophy page is also available on the GoFundMe crowdfunding platform. Social networks Facebook and Instagram are involved. Under the hashtag #SaveDmytro you can find the baby’s entire story translated into 15 languages and a daily fundraising report.
“Dima, we will make it in time” is our motto, which we do not forget for a second. It is now important for us to cross the line of 50% collection. Then the major patrons will be ready to close the other half of the amount. Our family’s mission is to save not only our son. We want to help all the “smilies” of Ukraine,” says the father of the boy Vitaly Svichynskyi.
According to him, the state budget provides for funding of 1.277 billion hryvnias for the purchase of drugs for patients with rare diseases. But, unfortunately, not a single manufacturer of medicines for people with SMA has even entered the process of evaluating medical technologies right now. Not to mention the negotiation of contracts, despite the fact that it is already the fourth month of the fiscal year.
“The Verkhovna Rada of Ukraine will still need to adopt amendments to the Law of Ukraine “On Public Procurement” in order for the state to have the opportunity to conduct separate negotiations with manufacturers to reduce prices. And there is a feeling that this year the money budgeted will not be spent, which means that children with SMA will not be able to receive free treatment in Ukraine. But we will try our best to move this rock and save our children,” adds Svichynskyi.
Olena Rotari is a journalist and Kateryna (Lapytska) Dolhova is a translation editor with Channel 7 Odesa.
