Spinal muscular atrophy is a severe genetic disease in which all muscles, including those responsible for breathing, gradually atrophy.
In the most severe type, the first signs of the disease appear even in infancy, and children do not live to be four years old.
There are three officially registered drugs in the world, two of them - "Spinraza" and "Evrisdi" - must be taken for life, and one, "Zolgensma", is enough to take once.
However, it is Zolgensma that is considered the most expensive drug in the world: a dose of the drug costs more than two million dollars.
RT spoke with the parents of three children who received the medication.
Denis Khairullin, dad of Barbara
- We met my wife 12 years ago, we are both from Blagoveshchensk, now we live in Ufa.
I work in the field of cellular communications: I started from a position, now I am the head of a retail network, I have 25 stores subordinate to me.
My wife worked as an administrator, then went on maternity leave.
We have an older daughter, Eva, she is 4.5 years old.
And on February 12, 2019, Varya was born.
When the youngest daughter was nine months old, we sounded the alarm.
At this age, the child should already get up, and some are already walking.
Varya could not get up, her legs were very weak, so we began to visit hospitals.
It was only in the summer of 2020 that we were sent for a genetic test, and only in September was the diagnosis made.
We lost a lot of time.
Before, we didn't even know about a disease like SMA.
If they knew, they would have done a genetic analysis with his wife for the carrier of the "broken" gene in advance.
Eve is completely healthy, and we didn't even think that something could happen to our child.
When we began to learn something about SMA, we plunged into a nightmare that seemed impossible to get out of.
But we immediately decided that we would be treated with Zolgensma: the drug is injected only once, besides, two other drugs, Spinraz and Evrisdi, are still not available quickly in our region.
We opened the collection on September 28, 2020.
Relatives and friends helped to spread information about Var, then strangers from Ufa and Blagoveshchensk joined.
In agreement with the administrations of these cities, we held a car rally, charity fairs with the support of sponsors.
Volunteers in social networks tried to reach out to Russian stars, famous bloggers, wrote to various companies.
Of course, there were many refusals, but caring people still did not give up.
For two and a half months, we managed to raise a little more than 10 million rubles, which is not enough to buy medicine.
At the same time, we collected the necessary documents to apply for participation in the lottery, which is arranged by the manufacturer Zolgensma.
We used all our possibilities.
Somewhere, something had to shoot.
Since September, my wife and I have not had a single day off, we are physically very tired, we almost lost our hands.
And so, late in the evening on January 10, 2021, the neurologist Varya called my wife and, crying with joy, said that we had won the lottery.
Imagine that you had a huge stone on your shoulders, you were already exhausted to drag it, you are ready to fall and not get up.
And then at one point he flies from you.
This is what we felt then.
“There were tears, we were like in a dream.
And the next day we realized that this is reality. "
I think we were just lucky.
And I suspect that we have exhausted all the limits on future lotteries, because such a major gift of fate, of course, happens only once in a lifetime.
Immediately after we learned about the win, the camp was closed.
We left three million of the collected money for further rehabilitation and purchase of the verticalizer.
We transferred 6.9 million to the account of Sasha Gorobinsky's little "smiley".
About 442 thousand, collected through our second fund, were given to Matvey Kulikovsky, a “smiley face” from St. Petersburg.
About 100 thousand rubles, which were collected on a foreign site, were transferred to a boy with a tracheostomy from Ufa, and the money that was credited to the account after the closing of the collection, about 20 thousand rubles, was transferred to a girl - "smiley" from Barnaul.
On February 7, after serving quarantine so that Varya would not fall ill on the eve of hospitalization, we flew to Moscow.
On February 11, after passing all the tests, our daughter received an injection of Zolgensma at the N.N.
The next day, Varya turned two years old.
© Photo from personal archive
The daughter is still weak, the changes are still difficult to notice - too little time has passed.
In a month, the liver parameters should return to normal and then we will look at the effect.
My wife and I understand that there is still a lot of work ahead, because a lot depends on rehabilitation.
In addition to the verticalizer, we will buy a wheelchair, although we immediately decided that we would not treat it exactly as a disabled person - this is just a means for Varya to move wherever she wants.
Plus, she will undergo a month's rehabilitation at the center of our Mother and Child Foundation.
Our eldest daughter Eva used to go to kindergarten, but after we learned Vary's diagnosis, we had to take her out of there.
Any disease is contraindicated in children with SMA, and in kindergartens, you know, babies often get sick.
Therefore, now my mother teaches Eva, she is a teacher of Russian language and literature.
Eva still does not fully understand what was happening with her younger sister, but she asked why Varyusha could not run with her, play hide and seek.
She loves her sister very much and was worried about her.
Varya is smiling, positive and mobile.
Even doctors say that for such a diagnosis, our child is just a zest.
And we really hope to see the effect of the drug in a month.
Andrey Zhukov, Misha's dad
- My wife Marina and I live in Murmansk.
Misha is our only joint child, Marina also has an older son.
When Misha was 3.5 months old, we noticed that he did not hold his head and could not roll over well.
Neurologists said that you need to wait a little, get a massage, but nothing helped.
Only at eight months we learned the correct diagnosis.
Of course, we were shocked, it's hard to remember it.
At the beginning of 2019, there was no question of any drugs, even Spinraza had not yet been registered in Russia.
But thanks to the SMA Families fund, we managed to get into the early access program and we underwent a year-long treatment with Spinraza.
After four loading injections, we did not see any deterioration or improvement in Misha's health, so on December 23, 2019, we began to collect money for an injection of Zolgensma.
Now we have understood the topic deeper, unfortunately, this is not a miracle injection that can immediately put a son on his feet, but this is a very good drug.
We conducted city flash mobs, a car rally, disseminated information on social networks, and made appointments with Murmansk officials and deputies.
Posters with Misha's story were hung in trolleybuses, on billboards, leaflets were handed out by hand.
The Northern Fleet Theater held a concert and donated the collected funds to us.
We have also applied to participate in the lottery.
It seems to me that every third resident of Murmansk knew about Misha, and many did their best to help.
© Photo from personal archive
The pandemic affected the gathering, because offline events had to be canceled, so in the future they worked mainly through social networks.
Five months after the start of our campaign, we managed to raise 47 million rubles.
And the remaining amount was transferred by one person, he asked not to disclose his name.
I learned that the meeting would be closed a little earlier than the official call, but until the last I kept it a secret even from my wife.
During the training camp, there were already cases when hopes were disappointed.
When everything was confirmed for sure, we visited our parents.
It was a real holiday.
Naturally, everyone was crying, there was a lot of joy, happiness, emotions went off scale.
On July 23, 2020 Misha received a Zolgensma injection at the N.N.
Everything happened very quickly: they went to bed one day, got tested, the next day there was an injection, they watched the child for two hours, and then I took everyone by car to my native Murmansk.
After returning from Moscow, we had to stay in quarantine for a month so that Misha would not catch anything.
And two weeks after the injection, the child sat down - generally for the first time in his life.
The changes are grandiose: it rolls over on its own, became stronger.
My wife and I, of course, feel better.
But we have not moved away from the topic of SMA, we continue to help other children in informational terms.
Naturally, the outlook on life changed, we began to appreciate it more, no matter how pretentious it may sound.
When the training camp was taking place, I had to resign from the National Guard - the training took a lot of time and effort.
I am currently temporarily working with other emoji parents, but I am going to get a job as a bailiff.
Marina is taking care of Misha at home.
The boy is growing, he began to show his character.
His favorite toy is a tractor, and he even likes to pronounce this word.
The son also likes to look at the fish.
It seems to me that the best option for children with SMA is rehabilitation at home in order to protect the child from any infections in public places.
The big difficulty is that in Russia there are no specialized rehabilitation centers for "smiles", and the parents themselves often have nowhere to learn.
I would like to believe that this problem will be solved.
Ekaterina Martynova, mother of Artyom
- We are a young family from Voronezh, in May I will be 25 years old, and my spouse 26. We had many plans and other priorities.
But everything changed when Artyom, our only child, turned 11 months old and we learned about his diagnosis.
We are talking about the beginning of 2019, when only Spinraza was registered in the world.
The geneticist said that there is a medicine, but it is very expensive.
We thought: “How much?
10 million? "
For us then it was an absolutely unimaginable amount.
And when they told us how much the drug actually costs, we were shocked.
We signed up for the early access program for Spinraza and got six shots that way.
After the first four injections, Artyom stopped weakening, the skills of a coup on his stomach, on his side began to return, he began to scream louder, and began to sit.
The course was completed in May 2020.
If we didn't get Spinraza, it would be very scary.
In May 2019, Zolgensma was registered in the world.
We, of course, realized that it was all the more impossible to collect such a sum.
But then they began to meet stories when they still succeeded: on Dima Tishunin, on Matvey Chepushtanov.
And we also decided to try it.
The money was collected for six months.
Before the COVID-19 pandemic, they managed to hold a flash mob, a Maslenitsa fair, and a concert in support of their son.
They talked about Artyom at all city holidays, after which the collection was accelerated for a day.
© Photo from personal archive
For the last three months of the training camp, we sat at home and worked through social networks and calls.
We were worried that everything would calm down in quarantine, but in fact the pandemic helped us: people spent more time on the Internet and there they learned about Artyom.
We closed the gathering on our own, without translation from any one person, but large organizations helped us.
For example, one of the banks transferred about 12 million.
During this time, we encountered different reactions, there were also negative ones.
Someone did not believe that such a huge amount was needed, someone doubted that the medicine would help.
Someone said that it would be better to send this money to other children, they called us both scammers and freaks who thoughtlessly give birth.
They suggested “to be treated by the laying on of hands”.
We tried not to pay attention.
Fortunately, there were many more adequate and kind people.
Artyom received an injection from Zolgensma on June 30, 2020, at two years and two days.
This is not our fault: the distributor was delayed in delivery.
But the doctor at NIKI Pediatrics.
Veltischeva went to meet us, after all, two days is not a critical difference, here it is more important to focus on the weight of the child.
The drug was administered in an hour, at first the temperature rose, but, as the doctors explained, this is a common occurrence.
After two weeks, everything went away, and after a month, the tests returned to normal.
Now Artyom is two years and eight months old.
He feels good, gets stronger, gets stronger.
He, of course, did not run, did not get up, but crawls with his head raised, pushes off with his arms and legs, raises his body.
This is a trifle for someone, but for us it is progress by leaps and bounds.
Zolgensma works, and it's a miracle.
In Voronezh we go to the pool and exercise therapy, soon we will fly to Tyumen to do orthoses.
We plan to just live and be ordinary people.
Artyom will definitely go to kindergarten and school.
Our son is a real hero.
A demanding boy, purposeful, smart, energetic, although this is not yet in our favor, because concentration is at zero, and we need patience.
He is kind, strong, gentle, affectionate, charismatic.
when he grows up, it will be a difficult person, as it seems to me.
Artyom's illness has greatly changed my husband and I.
Priorities changed, they began to understand what is valuable in this life.
This situation brought our family together, we began to appreciate each other more, a special bond appeared between us.
I am currently getting a higher education, this year I have a diploma.
I will not return to work, but I am looking for something to do so that I can combine with my family.
Dad is our entrepreneur, ambitious, now he has even more incentive to work.
And, of course, we help and will continue to help other children.
The need to spend my strength and energy on this, I especially clearly understood during the collection.
The more we give, the more comes.
It is important to do it selflessly and not expect anything in return.