Spinal muscular atrophy: how to live when muscles fail

A wheelchair seems to the average person to be a huge obstacle to a full, happy life. But this will not necessarily be true.

We talked to the heroine, whose story proves that everything depends on her own mood and the support of her loved ones.

Anastasia Podsevalova has spinal muscular atrophy, an incurable genetic disease in which the transmission of signals from nerves to skeletal muscles is impaired. As a result, a person gradually loses the ability to walk, control his own body, sit independently, eat, swallow and breathe.

Now Anastasia is 32 years old. She has a husband, friends, a job she loves and a huge love of life.

We learned how she felt, gradually losing the ability to move, how her life changed and what helps not to despair.

"My illness as a factory setting"

I was born with spinal muscular atrophy, so I didn't have a moment that would divide my life into before and after.

SMA is like a spider that every day more and more wraps the victim with a web of immobility. It didn’t happen to me at once, it didn’t stick into my memory and didn’t hurt as badly as it happens to people who get into a wheelchair after an accident, for example.

SMA approaches gradually and almost imperceptibly. At the age of 7, I still walked, but no longer climbed the stairs. At 11 I didn’t walk, but I was still sitting upright. At 16, scoliosis manifested itself, but I myself was rolling over in bed. At 20 I could not bend my leg, but while I was holding a mug. At 30 I drink through a straw, but I still breathe without a non-invasive artificial ventilation device.

My illness is like a factory setting: I initially knew that my muscles were weakening and someday I would stop walking. Therefore, from childhood, she strove for independence, studied a lot and tried to live as fully as possible in the given circumstances.

The family did not hide the diagnosis from me, but they could not fully explain what would happen to me. For example, no one told me that scoliosis would develop, due to which it would be difficult to breathe, although this is a typical complication.

It seems to me that the parents themselves did not have enough information. Only in recent years have they begun to speak loudly and scientifically about SMA. In the 1990s, when I was a child, not every neurologist knew that there was such a disease. And those who knew told the parents that there was no medicine and would not appear, the child would be a deeply disabled person.

Fortunately, Mom and Dad and none of the other relatives treated me like that.

We just lived and solved problems as they came. If we don't have the strength to get to school, we will carry it. If you can't climb the stairs, we'll come up with a ramp.

Now I understand that it was difficult for mom and dad not only in everyday life, but also psychologically. You will not wish anyone to watch how your seemingly healthy child loses the ability for elementary movements: yesterday she jumped, and today she fell and cannot get up on her own. Of course, they were afraid for me and worried about my future, but they had the wisdom not to strangle me with overprotection.

"Every fortieth inhabitant of the planet is a healthy carrier of SMA"

Spinal muscular atrophy is caused by damage to the SMN1 gene. As a result, a person does not produce a protein that feeds motor neurons.

Motor neurons are an important part of the human spinal cord. From them, along long nerves, signals go to skeletal muscles. If the motor neuron does not receive enough protein, it quickly "gets tired". He has to work for himself and for that guy. From "fatigue" some motor neurons die altogether, and the rest increases the load, and they can no longer send signals to skeletal muscles.

Muscles are left without work, because no one asks them to do anything, they decrease in size and gradually die off too.

The good news is that humans also have the SMN2 gene, which duplicates SMN1. It produces non-functional protein and small amounts of normal protein that allows motor neurons a person to survive on a starvation ration, and a person with SMA to retain part of their motor, swallowing and respiratory functions.

Every 40th inhabitant of the planet is a healthy carrier of SMA. Such people haveWhy do people have SMA / "SMA Families" Foundation one complete gene and one mutated gene. The presence of one complete gene is enough for the production of the required amount of normal protein and the proper functioning of motor neurons. So a carrier of a gene differs from an ordinary person only at the risk of having a baby with SMA.

For a child with this disease to be born in a family, both parents need to be such carriers. But even then, 25% of children are born healthy, 50% remain just carriers, having received a mutation gene only from mom or dad, and only 25% are born with SMA, inheriting the "broken" gene from both parents.

One in 11,000 babies in the world is bornDiagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care / Neuromuscular Disorders with SMA.

There are no official statistics, but according to the “Family of SMA” charity fund, from 200 to 300 such cases occur annually in Russia. Now there are about 7000 SMA cards in our country.

Spinal muscular atrophy is characterized byDiagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care / Neuromuscular Disorders four types that appear at different ages.

SMA I (Werdnig-Hoffman disease) manifests itself when a child is between 0 and 6 months old. Such children cannot sit by themselves. In the natural course of the disease, 92% of them die before the age of two years.

SMA II (Dubovitsa disease) is diagnosed from 6 to 18 months. Such children can never stand on their own, but they can sit. Their life expectancy is more than two years.

SMA III (Kugelberg-Welander disease) is my case. SMA is detected at the age of 18 months. Such patients develop and walk normally, but at some point the disease begins to progress. They stop moving independently and sit down. Over time, the joints lose mobility, scoliosis appears, and the risk of complications after a respiratory infection is very high.

SMA IV is primarily seen during adolescence and adulthood. Such people may not lose the ability to move independently for a long time.

With all types of spinal muscular atrophy, patients have intelligence, they learn and socialize well.

"Like a girl from the village, also in a wheelchair, she will travel to the city to study."

On September 1, 1996, I went to school. True, she went - it is loudly said. Then I walked with great difficulty: my parents accompanied me to class, put me at my desk and took me away after school. But even without running with the guys at recess, I was happy, because I really loved to study.

So that you understand how strong my thirst for knowledge is: before the 1st grade, my parents bought me a satchel, and I carried it around the house all summer, imagining that I was going to school.

Despite the fact that the disease gradually took away more and more new movements, I had a happy childhood and awesome friends.

Even though I fell every minute, they dragged me with them into the huts, played all kinds of yard games with me, rolled me on a bike - in short, they acted as if I were an ordinary child. And that's the best they could do for me.

In the 5th grade, classes began to be held not in one office, but in different ones, and I was transferred to home education. It was about then that I finally got into the stroller. Adolescence was a very depressing period for me: I went out a little and spent most of my time reading books and textbooks.

After leaving school, my parents asked me if I would like to study further. Do not think that they did not believe in me, on the contrary, they considered me super intelligent. However, they simply had no idea how a girl from the village, also in a wheelchair, would travel to the city to study.

And I had no doubts for a second that all this could be organized. I wrote an advertisement on the search for an assistant on a popular Internet forum at that time, and pretty quickly found the one I was looking for.

I entered the law faculty of Ulyanovsk State University. I was not going to work as a lawyer, but at that time the choice of correspondence faculties was small, and I went to the place where I had to pass exams in my core subjects - history and social studies.

Six student years passed like one semester. I was lucky again with my friends: the girls from my group helped me in everything, and most importantly, they did not celebrate a single credit without me.

I graduated from the university with honors.

"Physical limitations have always spurred us to work harder and better."

It was extremely important for me to become a full-fledged member of society, not to be a burden either to my relatives or to the state. Therefore, I started working at school. At first I wrote term papers and essays for students, then I got carried away with copywriting and wrote articles on stock exchanges, and in parallel with this I began to record podcasts with friends.

So I met the publisher of Lifehacker Lesha Ponomar, who invited me to join the editorial board. Not even so - he believed in me as an author, and showed the way for development. Working at Lifehacker is a cool experience, a real professional development. I will always be grateful to both Alexey and the entire Lifehacker team.

A new round of my career began when I got into the largest and, in my opinion, the coolest online school - Foxford. I came there for a part-time job as a student mentor. To be honest, I never thought that working with children would be so exciting to me.

Teenagers taught me two essential things: not to be ashamed of your emotions and to be open to new things.

Having worked for several years in parallel at Lifehacker and at Foxford, in 2018 I still completely moved to Foxford as a content marketer. Now I write texts for promotional communications and try to develop as a UX writer. I really enjoy my work, projects, team.

SMA did not interfere with my professional development, on the contrary, physical limitations have always spurred me to work harder and better. I understand perfectly well that a huge part of the labor market associated with physical strength is closed to me. And I don't want to live on one pension at all. Moreover, I have a family.

"People were openly staring at me and pointing fingers."

As a child, I lived in a small village where everyone knows each other. Parents had to listen to unsolicited advice and even reproaches more than once. My mother was once told that the child was sick because she gave birth late - at 31 years old. And, of course, every second person strove to give the address of a healer who “will definitely help”.

And I well remember my first appearance on the street in a wheelchair: people could not restrain their emotions, they openly stared at me and pointed their fingers.

Did it hurt me? No, I was rather angry and rather impudently upset the most arrogant: "Turn away, you will turn your head."

But by the time I left, in my village no one was surprised by the disabled. They probably consider me a sneak there, because I have written many times complaints about shops and various institutions for the lack of ramps and impregnable curbs. But now not every city boasts such a barrier-free environment as in my native village. Proud of it.

I travel a lot and, in my opinion, the situation with the accessibility of cities is changing for the better. Even the fact that mobility assistance services have appeared at all railway stations and at all airports speaks volumes. By the way, they help not only the disabled, but also the elderly, pregnant women.

Moscow, in terms of accessibility for a person in a wheelchair, is almost paradise. In the provinces, things are worse, but even in Ulyanovsk, low-floor buses and trams have appeared, curbs are slowly being removed at crossings, and normal ramps are being made.

Of course, there is still a lot to be done. For example, to defeat the Russian "and so it will do", when they put a ramp at the entrance, but do not take into account that there are steps inside the room that a person in a wheelchair cannot overcome.

"We have to seek medicines through the courts"

There is no special support from the state for patients with SMA. You just receive a pension and related benefits, first as a disabled child, and then as an adult with group 1 - 13,912.10 rubles.

The provision of technical means leaves much to be desired. Personally, I have never received a wheelchair that would fit my physiological parameters. I always buy at my own expense and receive only miserable compensation.

There are medications for SMA. They were first used in 2016 in Europe and the United States. Of course, this is not a miracle pill, thanks to which you will wake up healthy the next morning. But these are the first drugs that produce the required protein, stop the progression of the disease, and even return some of the lost movements.

As of May 2021, two drugs for the treatment of spinal muscular atrophy were approved in Russia - Nusinersen (Spinraza) and Risdiplam (Evrisdi). There is also "Onsemnogen abeparvovek" ("Zolgensma"), it is approved in the USA, the European Union and submitted for registration in Russia.

The cost of "Spinraza" is about 5 million rubles per package. You need from 8 injections per year. And treatment with Risdiplam will cost about 25 million rubles a year.

You need to take these medicines all your life. If you stop, your muscles will weaken again.

The struggle for these drugs is another story. The state does not buy them, they only help kids through the presidential fund "Krug of Kindness". Adult SMAs, including myself, have to seek medicines through the courts. It is good that charitable foundations and enthusiastic lawyers have appeared to support us.

Now is the next moment when it's hard for me. Because you have to receive formal replies from the state in the struggle for Risdiplan, and scoliosis began to threaten spontaneous breathing, and money is needed for the operation.

During such periods of your life, you howl and swear from time to time. But everything passes, and this too. Many times it was painful, unbearably offensive, scary. But I never got to the point of despair.

I believe that you should not make hasty decisions. No matter how difficult it is today, tomorrow you will wake up with a different mood and, perhaps, see a solution to the problem.

For 32 years, I have never had any thoughts of suicide. After all, any "factory settings" can be upgraded so that it is comfortable.

“You need to live here and now, without setting barriers for yourself”

I work remotely, so most of my colleagues did not know about my disability until the start of the collection for the operation.

Of course, the girls from my department, my leaders and the people we met at corporate parties were in the know. But Foxford is a big company, I interact with many people via the Internet, and it would be strange to suddenly come out in the middle of solving work issues. This is simply not necessary.

When the entire Foxford team learned that I had SMA and that I needed surgery to correct my scoliosis, everyone quickly turned on and organized a fundraiser. Many have written about me on their pages in social networks. And the company's management has promised to double the amount that the guys will collect.

Of course, I burst into tears when I found out about it. The realization that you work not just with cool specialists, but also very good people is priceless.

I am extremely grateful to all the guys who support me now. My family and friends are the main source of inspiration for me. I feel that I really need them, and try not to let them down.

I want to travel and work as much as possible - it energizes me. I want to continue reading interesting books, eating delicious food, meeting good people, stroking my dog ​​behind the ear. Life is so cool! Well, let me drink from a straw, but my favorite cappuccino.

And my husband and I dream of a child.

As long as we are shy, afraid, doubtful, life goes by. And we have only one - we need to live here and now, without setting ourselves barriers.

You can support Nastya in the fight for her own health in group in "VKontakte".