Saturday morning, Mokotów in Warsaw. Peace and quiet on the streets - there is a weekend atmosphere - completely different than the one that dominates the busy capital every day. However, it is enough to cross the threshold of the rehabilitation center in Modzelewskiego Street to find yourself in a completely different world.
It is loud, and in the air there is a spirit of excitement, readiness to expand your knowledge, new acquaintances are made. Adults talk, exchange their experiences, children laugh and play, and yet they seem calm, they do not run. Why? They are ill with myopathy, and their parents often came to Warsaw from distant places in Poland to learn how to help their children rehabilitate even better.
Because although for the average person the term "myopathy" is rather insignificant, for the mum and dad of a child suffering from it, it is a factor that determines their everyday life. There are many different forms of the disease and symptoms that are known by the term myopathy. This can be seen in the children who showed up at the meeting: some walk on their own, others need protection. There is a boy who moves in a wheelchair but breathes on his own, and children who are assisted by a respirator. Myopathies are rare diseases that result in muscle weakness and atrophy - their course and prognosis are difficult to clearly classify, the disease, as in the case of children present at the meeting, may be congenital (result from gene mutation or inherited autosomal dominant or recessive) or acquired , for example, occur in an underactive thyroid gland. Most often, the muscles of the thighs and arms are weakened, but it is not uncommon also the muscles of the neck, face, throat, slurred speech, difficulty swallowing and breathing - when the respiratory muscles are also weakened. While many types of myopathy are now known, many more are still pending classification - many people may not wait to make a correct diagnosis as the vast majority of myopathies are still unexplored.
- In my life I had many newborns on my arms, and yet when my son was born and I took him in my arms, I did not feel for a moment that he was more flaccid or weak than other babies. However, we saw the first symptoms shortly afterwards - the son has been undergoing rehabilitation sinceDuring the first week of life, we thought it was reduced muscle tone and that it would soon catch up with its peers. We did not know for a long time what exactly was wrong with him. In our case, the first supposition that our child has congenital myopathy appeared in the 13th month of our son's life. We did not believe it and denied it, but the final confirmation was only obtained when the child was 6 years old and we performed a muscle biopsy. We have only recently known that she suffers from a specific type of congenital myopathy - caused by a mutation in the RYR1 gene - thanks to a genome sequencing study performed on our own - says Iwona Wawrentowicz, mother of 11-year-old Michał.
Myopathies are usually diagnosed by electrophysiological examination (EMG), muscle biopsy, and histopathological examination. In the case of parents from an increased risk group, genetic tests are performed.
About half of parents and their children will hear the diagnosis - why? Medicine does not know everything about myopathy yet, and many doctors do not have enough knowledge about the disease and the parents of young patients are often their source of information. They search the Internet in search of solutions that could make everyday life easier for their children. Because although myopathy is incurable, it is possible for patients to be able to make everyday life easier. And these helpers must be a whole lot: they need care, among others. a neurologist, cardiologist, physiotherapist or speech therapist. However, hitting specialists with knowledge and commitment is not the easiest task:
- Treating a child requires a lot of self-denial and work on the part of his mum and dad. Unfortunately, in the case of myopathy, there is a high probability of hitting the wrong doctors or physiotherapists. Many of us - parents - invest a lot in the help of specialists, not state-owned, but private. A boy who was undergoing rehabilitation next to Michał was once assigned a physiotherapist in a public clinic, who handed him an exercise bar while he was standing next to him, writing text messages. Now, years later, I know what to expect from physical therapists and I am glad that I can choose a specific specialist myself. Unfortunately, we are also bothered by the lack of doctors specializing in this type of rare disease, so we look for information on our own. As parents, we learn more by reading Polish and foreign publications on the Internet and communicating with each other. We often surprise doctors with proposed solutions that they have not heard about before. It is difficult for me to imagine the situation of parents who live in villages away from larger cities, with even more limited access to knowledge,specialists - adds Iwona.
One of such specialists is Dr. Agnieszka Stępień, president of the Polish Physiotherapy Association, who together with the entire team of physiotherapists organized the meeting for patients and their parents.
- We have de alt with all sorts of problems reported by patients and their families. We talked, among others about how to exercise the facial muscles, maintain the correct position of the head and spine, and how to train the respiratory muscles and how to prevent contractures - says Dr. Stępień and adds: - I realize how many difficulties, starting from the diagnosis stage, face patients with myopathy and I'm glad that we were able to answer many questions bothering parents.
Ms. Agnieszka's indications are carefully listened to by Maciej (the first man on the right)
Photo source: Orthos Functional Rehabilitation Center
Treatment of a sick child requires a lot of self-denial, but even worse are young adults with myopathy. One of such people is 20-year-old Maciej Reisch. The boy was born in an extremely difficult condition - in the first moments after birth he only got 1 point on the Apgar scale, which soon turned into a whole 3 points. So from the very first moments in the world, he fought for his life and he alth. Maciej developed slower than his peers - he often caught pneumonia that required hospitalization, suffered from contractures in the hip and knee joints. It was not until 2004 that he was diagnosed with centronuclear myopathy. Maciej has a tracheotomy tube, he breathes with a respirator, and at the same time he learns and develops his interests. He even challenges … to his parents. As he explains to them: "It is for your he alth and my he alth, because when you are he althy and fit, the longer I will be provided with care". That is why they took part in the Warsaw Half Marathon and the Drwęca canoeing trip. Maciej knows perfectly well what problems his parents are struggling with and that constant rehabilitation is the key to his independence. However, relying solely on the public he alth service, it is difficult to talk about this systematicity - Maciej's parents visited the rehabilitation clinic in November 2022, where they were offered June 2022 as the date of the ordered procedures. Maciej's situation is even more difficult as he is already a young adult.
- The Polish he alth service has less and less to offer him - says Maciej's mother, Bożena. - Treatment of adults with myopathy is practically non-existent. The child is cared for until the age of 18, then the patient ceases to exist for the system. If you are getting proper supervisionmedical care for a child with myopathy is a challenge, in the case of adults it is almost impossible - adds the woman.
With the advancement of medicine, patients with myopathy live longer and longer - they did not survive their childhood, today they can live to old age, and many of them have a chance to cope with their lives on their own.
- It was only when Michał was 1.5 years old that our physiotherapist admitted that he had been so flaccid earlier that he had not even had a chance to learn to sit. Now he not only sits, but even walks with protection, he can go up and down low stairs, he rides a bicycle, and swims. Children with neuromuscular diseases have trouble getting up from the floor - we practiced it at home. I cried, my mother cried, and Michał tried and finally he succeeded. We exercise ourselves every day, plus 3 times a week with a physiotherapist and once a week in the swimming pool. I am delighted to observe the milestones my son is making. For the parents of a he althy child, the fact that the child starts to sit, crawl and walk is something natural, for us it is like reaching the top of the Himalayas - little pearls that we pick up from everyday life - says Mrs. Iwona.
Michał and the world map that he built himself from Lego bricks
Photo source: family archive
Michał himself admits that "it is known that instead of participating in rehabilitation, he would rather build with Lego bricks", but he sees how much progress he is making and this motivates him to make an effort. The boy likes to spend time at school, as his mother says, "if he had the opportunity, he would live there". Mrs. Iwona goes to school with her son every day, helps him move from class to class, wear a schoolbag. Michał's friends do not look at him through the prism of his disability, they see that he is simply one of them. And in many areas he is doing even better - he is the best student at school, he received the Diligentiae Medal from the President of Białystok. "The son has an average of 6.0, he is the best of his peers in all of Poland in terms of nature," says Michał's mother.
Parents of children with myopathy emphasize how important the psychological condition of their children is in the course of this disease. That everyone wants to be accepted, perceived by what interests and achievements they have, and not pointed by the fingers because of their physicality.
Parents, who often put their needs aside, do not have time to rest, devote it to their son or daughter and look for new solutions that can help their children, also need support in dealing with the child's disease. Therefore, they decided to join forces and fight for better he alth care for their children, provide each othersupport.
Important
Are you the parent of a child with myopathy? Join the others!
If you are a parent of a child suffering from myopathy or notice symptoms that may indicate it, you can join the "congenital myopathy" group on Facebook, where you can get help from other parents. children with myopathies website
www.oswoicmiopatie.com- a valuable source of information about the disease. A place on the Internet where you can contact other parents as well as the specialists they recommend.
Anna SierantEditor in charge of the Psychology and Beauty sections, as well as the main page of Poradnikzdrowie.pl. As a journalist, she cooperated, among others. with "Wysokie Obcasy", the websites: dwutygodnik.com and entertheroom.com, the quarterly "G'RLS Room". She also co-founded the online magazine "PudOWY Róż". He runs a blog jakdzżyna.wordpress.com.
Read more articles from this author