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Spinal Muscular Atrophy (SMA) does not have to be a verdict, even though you are shocked to hear the diagnosis. However, the most important thing is not to break down, but to find people who have tamed this disease. There are hundreds of them in Poland. They operate in the SMA Foundation and will meet SMA at the end of August at the third Weekend.
Szymon Bończak is 10 years old. He loves loud music, Marvel comics and computer games. He is fascinated by motorcycles and cooking. As every boy of this age goes to school, he was previously in kindergarten and kindergarten.
Łukasz Kufta is a handsome, direct 28-year-old. He says about himself that he is a tattooed computer engineer. He works for an IT company, and his greatest passion is parachuting.
Tomasz Krawczyk is 43 years old, has a wonderful wife and two sons: 10-year-old Frank and 5-year-old Staś. He works remotely, so he can spend more time caring for boys.
Gabrysia and Patrycja Marczuk are charming, 3,5-year-old twins. Brave, always smiling, curious about the world and adoring their kindergarten, which they have been attending for a year.
Normal condition, not terrible
– 99 percent of people who learn about spinal muscular atrophy have never heard of the disease before – says Patryk Marczuk, dad of Gabrysia and Patrycja. It was no different in his case. – For the first year and a half, the girls developed perfectly – he says. – But after her second birthday, Gabrysia stopped walking. Wandering around the doctor’s offices lasted several months. Eventually, one of the neurologists began to suspect SMA. Genetic studies confirmed this diagnosis.
The twins’ dad remembers that they were devastated with his wife. But at the same time, they felt relieved. – After many months of uncertainty, we finally found out what our daughters suffer from. And when you know your enemy, you can fight him – says Patryk Marczuk, who was sure that his greatest allies in the fight against children’s disease would be doctors. He was wrong. From the doctor who diagnosed the girls, the Marczuk family heard: You are young, you will have more children, and there will probably never be a cure for SMA. – When asked what we should do now, how to live, he sent us to the blog run by Gosia Bończak – recalls Patryk Marczuk.
The name of Małgorzata Bończak is probably known to everyone who has any contact with SMA. She is the mother of 10-year-old Szymon, who started the blog Preclowa Strona (preclowastrona.blox.pl) nine years ago. In the first post, she explained: These notes are a bit of a form of taming a monster called SMA.
Today Małgorzata Bończak can say that she has succeeded. We managed not only to tame the monster that attacked her son, but also to show thousands of other people that it is possible to live a normal life with SMA. – Those who have no idea about this disease perceive disabled people like Simon through their prism, that is, they try to put themselves in their skin and come to the conclusion that they would be terribly unhappy then. Meanwhile, children with SMA, at least with the first type of the disease, which is what Szymon has, do not know another life. This makes this condition not terrible for them. This is a normal condition – says Małgorzata Bończak and explains that patients with intellectual spinal muscular atrophy develop normally. This means that physical disability does not go hand in hand with intellectual disability.
It is not illness that determines happiness
Łukasz Kufta is of the opinion that everyone can do whatever they want with their life. For example, he chose to be happy. And that despite the disease he was diagnosed with when he was one and a half years old. – My parents heard that I will not live to see my second birthday, and here I am, I’m 28 years old – he laughs.
He spent his entire childhood, up to the age of 17, in hospitals and sanatoriums. He came home only for holidays, summer vacations and winter holidays. – Contrary to appearances, it was one of the most valuable periods in my life. He taught me that you can jump over the logs thrown at your feet, and if you can’t, you have to walk around them – says Łukasz.
Thanks to this approach, he graduated from a profiled high school (mat-fiz-inf), passed his high school diploma, got into the Academy of Fine Arts, but he gave up due to weakening muscles, and finally, being a humanist in a wheelchair, he became an IT engineer. To earn a living, he worked as a text message fairy, drew illustrations for erotic stories, and made flyers for nightclubs. Today, he realizes himself as an IT specialist, and being the boss’s right hand, he serves international clients of the company where he works. That’s not all, because Łukasz is one of the few people in the world who jumps with a parachute with such a disability and helps other, not fully able people. He talks about jumping with admiration. “The thing that drives me and allows me to live is fifty seconds of falling, during which there is no disease, it’s just me and speed. This is the moment when I don’t feel confined to my perishable body. I am then free and detached from the gray of the day, and as naive as it may seem, I feel that I can achieve anything against all odds!
Łukasz Kufta; photo: private archive
You can do anything with SMA
Patryk Marczuk is also convinced that a lot can be gained from SMA. – You can study, work, travel, start a family – she lists. – Of course it is a bit more difficult, but SMA does not cancel anything out.
This is confirmed by Tomasz Krawczyk, who was diagnosed with SMA type III when he was 16. – I was a very active teenager, and suddenly I had problems with walking, running and getting up from the chair. It was the 2002s, genetic tests for SMA were not done, but in the end one of the doctors made the correct diagnosis – he says. For him, illness means, above all, depriving him of independence in everyday life. – Fortunately, I have a wonderful wife who looks after me – says Tomasz Krawczyk. They met Monika on the Internet, they got married in XNUMX. – We really wanted to have children, but we couldn’t take any chances. Fortunately, DNA tests showed that my wife did not carry the damaged gene. So today we have two healthy sons – Tomasz Krawczyk is happy and admits that if he had not been ill, such tests would not have occurred to them.
Meanwhile, the carrier of the mutated gene responsible for the formation of SMA is on average every 35th person in Poland. – This means that this disease can appear in any family – says Małgorzata Bończak. The SMA Foundation (www.fsma.pl) estimates that on average in Poland one child is born with SMA every week. – In order for the disease to occur, both parents must be carriers of the damaged gene, but it is not the case that their child will certainly be born sick – explained Małgorzata Bończak. The genetic count is as follows: two people who are carriers of the damaged gene have 25 percent. the chance that their child will be completely healthy, 50% that it will be a carrier of the disease like its parents and 25% that it will be sick. “The tricky part is that most people don’t know they’re carriers, and with any luck, they’ll never find out.” Especially that routine tests that can detect it are not performed – says Patryk Marczuk.
Tomasz Krawczyk with his wife and sons, photo: private archive
The drug is close
What if you don’t have enough happiness? – Contrary to what many Polish doctors believe, scientists are very close to inventing a cure for SMA – says Patryk Marczuk, who has been one of the most knowledgeable people in this matter in Poland since the diagnosis of his daughters. One drug that stops disease progression has already passed clinical trials. In 2017, it will be submitted for registration with the European Medicines Agency. The registration procedure will take about a year, which means that it will be available for patients at the beginning of 2018. And this is not the end, because four more drugs (including those that replace a damaged gene) are at the stage of advanced clinical trials. If they pass them positively, they will enter the market within 4-8 years. – There are videos on the Internet with children who participated in their testing. It looks amazing. Previously, these children were only able to move their hands, now they sit down on their own or turn around their axis – says Patryk Marczuk.
– I am waiting for this 2018 as a salvation – admits Tomasz Krawczyk. All SMA patients and their families are waiting with him. They only spend one thing awake at night. – Unfortunately, these will not be drugs that cost as much as aspirin – says Patryk Marczuk. – Without the help of the Ministry of Health and the National Health Fund, the sick will not be able to cope. The greatest cruelty to people who have waited decades for a drug would be if it showed up and they couldn’t take advantage of it.
Weekend with SMA gives you energy
On August 29 and 30, SMA patients and their families will reflect on what to do to prevent this from happening. It is then in Warsaw that the third convention of patients with SMA will take place, called the Weekend with SMA. About one hundred families have declared their participation. Now the Foundation is making efforts to raise as many funds as possible for its organization. Otherwise, participants will have to bear the participation costs. – I will do everything to go – declares Tomasz Krawczyk. – A year ago I met amazing people who live with SMA and many doctors and specialists to whom I do not have access on a daily basis. I was leaving with a smile on my face. I want to repeat it because these people give the energy to survive another year.
Text: Agnieszka Groza