“I First Have to Explain it to the Doctors:” Tetrasomy X, a Rare Patient Story From the Czech Republic

Little Rozárka’s mother isn’t giving up. Her daughter is the only person in the Czech Republic with tetrasomy X, and is one of 50 people in the world with the disease. Her journey to a diagnosis was difficult, and even though they have the diagnosis, it’s not over. Her doctors have no experience with treating it, and so Rozárka’s mother has gradually become an expert on this rare disease.

 

As she herself says, “Whenever I find something out about the disease, I first get it translated well and then give it to the doctors treating Rozárka.”

 

My daughter Rozárka suffers from a very rare disease, tetrasomy X (48 XXXX). Only about 50 occurrences of this disease have been documented worldwide. Rozárka is currently the only person in the Czech Republic with this rare diagnosis and so far I have not managed to find a doctor who has dealt with this disease and who would also be able to treat her.

When Rozárka was born, she appeared to be completely healthy, except that on both her feet, her fifth toe grew atypically as an outgrowth of the fourth toe. This is a symptom of the disease, but doctors described it as an anomaly, and did not think it was significant. After a year they tested her for everything but didn’t find anything. At that point I was already convinced that something really was wrong with Rozárka. She just laid there and cried. Rozárka had central hypotonic syndrome and was like a “rag doll.” At age two she still didn’t speak at all. She just laid there.

For a long time we didn’t know what was wrong with Rozárka. It came about more or less by accident. I myself suffer from a rare disease, alkaptonuria, which is a genetic disorder of the metabolism of the amino acids phenylanine and tyrosine. A genetic research doctor at the Motol University Hospital finally found the diagnosis despite a very difficult path. My daughter was found to have tetrasomy X. They only gave me a piece of paper with a diagnosis and a very brief explanation of the disease and a recommendation to study up on it in a medical library. My specialist was retiring, so she couldn’t take on Rozárka as a patient. She only told me that it was “going to be bad.” She showed me an old textbook which had these really frightening faded black and white photos of children with the disease. It was so very hard for me. Given that the disease was so unexplored, it was clear we were going to be on our own. In the doctor’s office I received leaflets from institutions that care for sick children.

After the initial shock that this wasn’t just delayed development, it soon occurred to me that I wouldn’t give up and that I would do anything I could for Rozárka.  Unfortunately, at the time when I was looking for suitable exercises and treatments, a complication came up when one doctor misdiagnosed a rare form of polio and prescribed the wrong treatment as part of the research. It was supposed to help her a lot, but the result was that her muscles weakened and her condition sharply deteriorated for six months.

The doctors who we went to with Rozárka recommended the “Vojta Method”(a series of reflex locomotion exercises), not to move with her too much, and otherwise wait. They said she wasn’t going to sit up any more, let alone walk – that was going to be way off in the future. As she lay there on the ground, I thought to myself that we had nothing to lose, and that it was worth it to fight. I bought an old wetsuit and sewed it into something that looked like a playsuit. I attached it to the door frame and put Rozárka in it. She got to see the world and suddenly her development improved a little bit! I started to put her in a walker. Yes, this was against all recommendations. But my pediatrician supported me. After all, she knew I didn’t want to just wait around and do nothing. Rozárka learned to walk in her walker.

During her subsequent stay at the Jánské Lázne spa, they exercised with her using the Vojta Method very intensively and she even learned to stand.

Now the doctors give me a free hand because in an absolute majority of cases they wouldn’t know what to do anyway. On the contrary, I’m constantly interested in the disease and find out more and more information. When I find a major scientific article or study, I have the text translated well and I pass on the information to the doctors for study. If they don’t want to cooperate with me, I look for another doctor.

I have to be constantly on guard and try to avoid future complications. For example, I found out that children with this disease tend not to have their second set of teeth. Since then I’ve been taking even more intensive care of Rozárka’s baby teeth. A serious manifestation of the disease is the underdevelopment of the internal genital organs. However, in puberty, sex hormones start to be created (estrogen, for example), which will not get the right response and can cause dangerous imbalances (cases of depression, anger attacks and schizophrenia have been documented). I guess we have a big fight ahead of us, and I’m going to get the doctors to start hormone treatment in time so that it will help Rozárka avoid the expected complications. It won’t be easy to find a doctor like that. I’m not a pessimist, but this has been my experience so far.

At the Na Homolce hospital, an excellent child immunologist started to give Rozárka Imunor, a medicine with pig protein to support immunity – it’s inherently weakened in children with tetrasomy X.  Rozárka has had pneumonia 16 times in the last two years, but the pig protein has helped her. She’s also now taking a nutritional supplement called eye Q, which is a modified fish oil with evening primrose oil. It’s supposed to help develop the immature brains of children with normal IQs. Although tetrasomy X often causes a decrease in IQ, Rozárka has recently been in for anonymous tests with healthy children and passed the so-called wider spectrum without problems.

 I’m convinced that with appropriate stimulation and with nutritional supplements, it’s possible to achieve an improvement in her brain’s functioning.  The supplements are relatively expensive and I have to pay for it myself because the health insurer has not included Rozárka in a research project. They would have to have another child with this disease who would receive a placebo in order to determine the positive effects. There is no such child in the Czech Republic, so we’re out of luck.

It helped us when my first daughter, Kateřina, bought Rozárka an oxygen concentrator, which helps to bring oxygen to the brain, as part of the O2 Think Big project. I bought Rozárka an iPad, which helps her to learn and practice a number of things using educational software. Perhaps she’ll use the iPad someday in school for her writing, because it’s only the beginning for practicing her graphomotor skills.

We have also paid for her participation in the KlimTherapy rehabilitation program, which has helped her a lot – since then we have not had to take a carriage for walks. We have a sandbox at home with so-called liquid sand, which Rozárka walks in, and this helps her a lot. Sometimes she makes things with the sand. Our apartment is more like a creative workshop and we all feel good here.

I’ve hired a lot of young girls to help out, so I guess I’ve become an important employer. When it works out, I hire a reliable student almost every day; most often they’re future rehabilitation nurses or special needs teachers. I explain to these girls what Rozárka needs and then they work with her. They can then point to this as work experience and write school papers about it. I would like Rozárka to be able to go to school at the Jedlička Institute, where she would have rehabilitation, ergotherapy, swimming and speech therapy provided.

There’s always something to fight for. For example, recently Rozárka was not granted a handicapped ID card because she’s probably too healthy… So after an operation on her legs when she was strapped to her wheelchair, which wasn’t even covered, I had to deal with it on my own. This meant renting it from a medical equipment service, then because of time demands (three months), I bought her one second-hand. The funny thing was that when I used the handicapped parking, a policeman gave me a ticket. Yes, he was just following regulations, but this situation seemed absurd to me when I have a child in a wheelchair. His argument was that the child might be “borrowed.”

 According to my findings, universal central support doesn’t work in the Czech Republic. At least for us it doesn’t. In France or the USA, care is comprehensive: You get information, a psychologist will offer help, there’s a coherent network of specialist doctors linked to the social assistance system. In our country I have to find experts myself, persuade them myself and then provide them with information on the disease myself. It’s hard to do your work to pay for everything and take care of a sick child. Then you have to search for new information and interpret that for the doctors. It’s really miserable. Central care just doesn’t work here.

In the end I managed to find good quality help, and we don’t need more than this: An excellent pediatrician, an excellent pediatric orthopedist, a child psychologist and an exceptionally well-run special kindergarten. Close friends help with the rest of the problems. Some of them have sacrificed a considerable part of their time for Rozárka’s comfort. For example there’s Ivana Krieglová, the director of HABIBI.

It’s important to me that Rozárka keeps making progress, even though she does it in her own way. I’m trying not to place too many demands on her. On the other hand, I want to stimulate her to make the most of everything she has available. I have the support of the people around me and that’s very important for Rozárka and I. I’m already becoming allergic to attempts to console me like: “You have it so hard, but it gives you such a different view of the world, a new outlook.” I’m doing just fine with my old outlook.

Note: This rare patient story is the second in a six-part series that features rare patient stories from the Czech Republic. Tune-in on Wednesday mornings to read these accounts from rare disease patients.

 


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