Rodion - Barth Syndrome
Meet Rodion! He is 3 years old and is diagnosed with the rare disease Barth Syndrome. There are about 300 people in the world with this rare disease. Bart Syndrome causes the following: cardiomyopathy, which is when the heart becomes large and its compressive capacity is deteriorated and therapy is needed (sometimes even a heart transplant), myopathy, or in other words weak muscles, neutropenia, when there aren’t enough white blood cells being produced in body. The main problems are interconnected with other secondary problems. “We passed the Bart Syndrome test twice. For the first time, we had to wait 3 months for the results. I constantly thought about the test, and convinced myself that the test results would be negative… I reassured myself that the test results would be negative. When we arrived at the hospital, the doctor told me that the analysis did not work out for technical reasons. I felt something break inside of me. We gave it up again. When the result was ready, Rodion and I were already home. The doctor called and said that our results were positive. I tried to hold back tears because the doctor kept talking to me, but it was so hard. I just couldn’t. She told me that it was necessary to live on and to rejoice every moment when Rodion is a little bit better. Rodion is waiting for a very short, complex, and incomplete life. Wikipedia states that life expectancy is approximately 3 years. Of course, early diagnosis, correctly selected therapy, individual response of the body, love and luck increase this term. Recently, I recognized a lot of teenagers, as well as adults, who started their family. There’s nothing impossible. You have to believe in yourself and not put your hands down. In our case, Rodion was saved by a simple accident. In our world, everything happens for a reason.”
Rodion’s mother tells me about Rodion. She tells me, “Rodion is a very charming child. He loves everyone. The first time I marked it in intensive care was when he was 1 month old. There was some special attitude to him. Rodion loved everything from the head of the department to the nurses and of course wished him recovery. From this moment on, as our journey to hospitals, doctors began meetings with good people who helped us. I really believe that the success we have now achieved was to some extent thanks to Rodion’s charisma. Of course, any mother thinks her child is the best, more beautiful, interesting, cute, smart, and every mother is right. Rodion does have some special charm. His sister, Vera, is also beautiful and fun, but Rodion always leaves a bigger impression of the two of them. Now his love is dinosaurs, cars, and a gun. He is easily ready to share his toy, if it is not listed as the most favorite. In summer, he adores swimming in the sea, playing with sand. At the rehabilitation center, he adores playing improvised bowling, although it prevents us from doing our basic exercises… Rodion loves chips and snacks very much. It is a feature of people with Barth syndrome that at the level of subconscious want to eat sharp, perched, pickled, smoked food… His special and main love is his sister, Vera. Although they are always fighting, they always make up after a short time. In the morning, he wakes up with kisses and affectionately touches her cheek. Vera allows him to ride on her back. Sometimes Vera will feed Rodion”
“I felt grief and desperation, emptiness and despair. I was crying inside but remained absolutely silent on the outside. I had no idea how I could handle this being alone with the kids. All of this lasted a few days, but then I put myself together, because I knew that crying wasn’t going to help Rodion.” Rodion’s mother realized that she needed to get herself together if she would have any chance of helping and treating Rodion. If she had continued to stay weak, then their little family would not move forward and truly help Rodion.
According to Rodion’s mother, Rodion requires constant attention and time due to the following reasons: muscle weakness does not allow him to do most tasks on his own, like eating, getting dressed, climbing and getting down stairs, physical activities and games, running, jumping, and more. His mother needs to be there for him constantly to make sure that he doesn’t get hurt. Rodion can’t eat regular food like everyone else. He requires his food to be milled as an infant. “The blender is my best friend,” she says.
Rodion has to take 8 different medications for his heart daily. 2 times a week, he’s given an injection to stimulate neutrophil production. “We also give blood 2 times a week to control neutrophils. Also periodic courses of injections and tablets to increase muscle and mental tone. If Rodion has more drugs, it's a symptom. Rodion defends a little in his development from his peers. He does not speak, only a few weeks ago he began to speak his special language. He communicates with gestures, emotions, mimicking, etc. Nevertheless, he is a very fun, interesting, active (to the extent of his capabilities), intelligent boy. So my routine is to care for Rodion and for Vera (my older daughter). Now that she’s grown up, she helps me in some moments with her little brother.”
When I asked Rodion’s mother about the initiatives taken to raise awareness, she said “I am just learning a lot about our diagnosis. From the moment Rodion was diagnosed until October last year, which is a period of time of 1.5 years, I was in a complete information vacuum. I didn’t know anyone with Bart Syndrome, because this diagnosis is very rare, about 300 people around the world. I didn’t know what was waiting for us. Our doctors could not affect me much. I checked into Instagram, and I found the ground Bart Syndrome France. This wonderful woman named Florence told me about her son and group on Facebook, where people from all over the world communicate with their diagnosis. There I received answers to questions that I could not find myself, many of my guesses were confirmed, and of course I found new friends around the world. Later I recognized another child from Russia with Barth syndrome. We exchanged experiences and it was extremely exciting. I recently started talking about Rodion on Instagram and our three lives. In our country, Russia, people are not very interested in rare diseases. It is not among their interests and try to bypass it. I noticed more interest and benevolence in people from other countries. So for now, I am an aspiring Barth Syndrome advocate. I’m only learning and getting experience from other parents and adults with Barth. Rodion doesn’t know about his diagnosis yet, because he’s only 3 years old, But I think in the soul he feels he’s very special. I’m afraid of the moment he asks me what’s wrong with him. I’d like to learn from other moms what they told their kids what words to pick up.”
If Rodion could speak, his mother thinks that he would tell the world, “I think he would ask not to be angry and dismissive of children with health features. It is worth looking at these children and it is possible to see that they are fighters! Ordinary children are given a lot by easy efforts or by nature itself. Rodion, for example, requires much more effort and perseverance, strength or spirit to achieve the same or less result. I see with such pride how he stretches to do what the older boy knows or how he tricks and smacks achieves what is unrealistic for him. One day, when Rodion was still very weak, a very good cardiac surgeon told me with a smile: ‘Medicine is powerless if the patient wants to live.’ Every child and person with an incurable, rare diagnosis wants to live and knows how to rejoice in what he, healthy, consider absolutely normal. Don’t be angry or dismissive if someone in front of you can’t quickly climb the steps, perhaps this child doesn’t have the physical strength to do. We often face misunderstanding and ridicule from people around us as to why Rodion can’t be strong and fast, why he can’t eat a regular meal, or still doesn’t speak. I think Rodion would say, ‘Not always the perfect end result is important, but the persistence and desire to act rather than stand still is important. Be indulgent. Thanks and good luck.”
Rodion’s mother would like to give advice. She tells the world, “Don’t put your hands down no matter what. To be persistent and to believe in your strength. Love your children and infect them with life. The result will shock you to the heart.”
If you would like to learn more about Barth Syndrome, please check out the links below: