“We Don’t Know Anything:” a Mitochondrial Encephalomyopathy Story From the Czech Republic

When Lucinka was born, it seemed like everything was all right. But it wasn’t. Lucinka wasn’t doing well, and a whirlwind of examinations began. First, a diagnosis couldn’t be made. Then, when they managed to make the diagnosis after a few years, nobody was any wiser for it. This is because nobody else in the world has the same diagnosis as Lucinka.

 Our daughter Lucinka was born in the summer of 2013. Everything seemed to be fine. We just had a problem in the maternity ward with breastfeeding. Our daughter also had a problem with maintaining body temperature and borderline jaundice. She slept for most of the day because of it. When she was a month old, she ended up in the hospital for the first time to receive phototherapy at Bulovka Hospital in Prague. Luckily we went home after two days. A month and a half later, breastfeeding finally began. But our daughter didn’t gain much weight. She weaned herself at just under six months.

But our whirlwind with the doctors started earlier. When she was two and a half months, her pediatrician thought she didn’t move enough, didn’t hold her head up, and didn’t lift her head up when placed on her belly. Added to this was the suspicion of “setting-sun syndrome.” Fortunately this was not confirmed. In neurology, however, they found moderate hypotonia (low muscle tone) of unknown cause. Thanks to our pediatrician, my daughter and I got to meet with associate professor Honzík at the Department of Pediatric and Adolescent Medicine at the General University Hospital in Prague. We were hospitalized twice there. They did genetic and metabolic tests on her blood, and MRI tests were done. They tested our daughter for all possible muscle diseases. She even participated in research in Brno, where they tested her blood for 200 muscle diseases,  all with negative results. Finally we agreed to a muscle biopsy. Lucinka was a little over three years old. The biopsy resulted in a diagnosis: Suspected mitochondrial encephalomyopathy. It was a very difficult time for us.

Because of the hypotonia she had her vaccinations spread out, and she ate and drank less. Transitioning to baby food was a problem. Eating and drinking took an average of an hour and a half because of the hypotonia. But we managed to do it with the help of orofacial stimulation, and she finally started to eat and drink nicely. From two and a half months, my daughter and I exercised according to the Vojta Method four times per day. It had no effect, so we ended the exercises at 8 months. Lucinka made very slow progress. At 8 months she finally managed to raise her head when laid on her belly. On the recommendation of a physiotherapist, we looked for hippotherapy (horseback riding), which my father-in-law took us to. She started to make great progress because of it. At one year she was able to roll over. She sat up at 15 months and started to crawl on all fours about a month later. Then she learned to sit, to walk around furniture, to walk holding someone’s hand, and even to walk behind her stroller. At two years and one month, Lucinka started to walk by herself. That was one of the happiest times for us.

At age three, Lucinka started to go to nursery school with an assistant. She needs help with basic needs because of her fatigue. She tries, but she can’t do things like get dressed and she can’t go for walks without her rehabilitation stroller. In the afternoon she has to sleep at least an hour and a half, and sometimes much more. Unfortunately, in the summer of 2018, my father-in-law, who helped us so much, rapidly succumbed to an illness and died. Now instead of hippotherapy we go with Lucinka to yoga for the disabled. Spa visits also helped us a lot. Lucinka and I went to the spa town of Teplice for the first time before she was three years old, and we went back there twice a year as long as the spa had some benefit for her. We’ve also gone to speech therapy with her since she was two, but she’s making very little progress. She goes there together with her brother, who has receptive dysphasia.

Lucinka has weakened muscles in her mouth due to the hypotonia. This also causes complications with food. When she’s tired, it takes her an hour to eat. We have to help her. She has trouble shifting food in her mouth and with swallowing. Drinking is also difficult for her. Her sucking and swallowing reflex was also bad since she was little and she always had problems gaining weight. That’s why we finally decided to install a PEG, a hose used to provide nourishment directly to the stomach.

During the holidays in 2018 Lucinka had a regression. Things started to go backwards. Her fatigue got a lot worse. She’s most active in the morning, but the fatigue can occur at any time of day. Even if Lucinka sleeps in the afternoon, she’s very tired and we have to help her with everything. The fatigue also makes it hard for her to learn new things, and unless something is repeated again and again, she won’t know it 14 days later.

Lucinka tries very hard but often has problems understanding her friends or playing games in kindergarten. Mentally she’s delayed by 13 months, and unfortunately her development has stagnated. We arranged to postpone school, and we hope that she will be able to start pre-school preparation at the Jedlička Institute, where she could continue in a special school. She wouldn’t be able to manage in a regular school even with an assistant. Lucinka wears diapers for sleeping and away from home. When she needs to go to the bathroom at nursery school, she needs the assistant’s help.

After a lung examination by Dr. Koťátko, it turned out that my daughter also has a mildly restrictive ventilation disorder, which means she breathes on an energy-saving regimen. She was given an inhaler and we also go to ergotherapy and breathing exercises.

We also have to be very careful about illnesses. A common cold is very dangerous for Lucinka. Often she can’t blow her nose properly and her runny nose drips into her chest.  An ordinary cough turns into bronchitis, and it takes a long time for Lucinka to get out of it. She also throws up when she gets sick, and thus loses weight again.

We have to pay close attention to having a regular regimen. We plan everything for the mornings, then she has to go to sleep, and in the afternoon she needs peace and quiet. We do weekend activities on Saturdays. On Sunday Lucinka has to rest so that she can handle nursery school on Monday. The fatigue makes it complicated. According to the doctors, my daughter should not become fatigued, but at the same time she can’t just sit and do nothing. Sometimes it’s difficult for me to say that she has to rest when my son wants to run around and my daughter wants to be with him.

There are also difficulties with some children who tell my daughter that it’s a bad thing to sit in a stroller. So it’s hard mainly for me. My daughter doesn’t understand fortunately. The reactions of adults can also be difficult. They see my daughter as a healthy girl and it’s really exhausting to explain to them that I need to be close to her all the time. They don’t understand that she must not get tired, because she’ll fall asleep without eating dinner and then the next day she won’t be able to walk.

I learned by chance about the people who can help us. Early care helps us a lot. I learned from a physiotherapist that there is a benefit for care available. Now the organization “Centrum provázení” [Guidance Center] helps me the most. When we were preparing to install the PEG, they translated doctors’ reports for me. I also accidentally learned about the Metoděj association, which brings together families and children with metabolic defects. Last year I attended a weekend meeting in Jeseník. It was very inspiring for me and I was very happy to meet with people who understand me and have to deal with similar problems.

We have to always be on guard and adapt to new situations. We don’t know what awaits us, because there’s no other patient with this diagnosis that we know of. That knowledge is sometimes very difficult, mainly for us parents. Unfortunately, not even our older son copes easily with Lucinka’s disease. We know there is no treatment for Lucinka, and that doctors can’t help her against the fatigue. We’re trying to live here and now. Lucinka is happy. She doesn’t understand her disease and nothing bothers her. She likes to play with her dolls and stroller. She has friends in nursery school and finally she can play with children. I hope it stays that way for a long time.

 

Written by Petra Suchá

 

 


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