My health was good in my childhood. I was always one of the smaller ones, so at first nobody was too worried that I was a bit slower than the others and that my coordination wasn’t as good. As I fell further and further behind, I was examined at the children’s hospital in Zurich and it was discovered that I had a learning disability. This can also be typical of the disease. It is assumed that this restriction also comes from this in my case. At that time, however, this could not yet be properly classified.
Countless examinations without results
My health problems didn’t start until puberty. I was constantly tired and didn’t develop in line with my age. I was examined again at the Children’s Hospital in Zurich, this time very thoroughly, and genetic tests were also carried out. I was diagnosed with diabetes and for the first time I suspected that I might be suffering from lipodystrophy. All the examinations were extremely stressful for me. I’m actually terrified of injections and I’ve had blood taken countless times, including for research. However, a definitive diagnosis was not made at the time. At some point I didn’t want any more clarifications, I thought I’d leave it as it was. I was able to complete an apprenticeship as a gardener, worked and lived with my limitations.
Diagnosis at last
But after a few years I started to have more health problems. That’s why I agreed to make further inquiries. Due to the earlier suspected diagnosis of lipodystrophy, my blood samples were sent to various laboratories via the Institute of Medical Genetics at the University of Zurich, as far away as Canada. I think a laboratory in France was then finally able to determine the exact type of my lipodystrophy disease, it is Berardinelli-Seip syndrome. I was 28 years old then.
Living with an incurable disease
It was good to find out what I have, but it is also difficult to deal with this disease. For me and for my family. My parents and siblings wanted to help me, but didn’t know how. Because there are hardly any other patients as a comparison, it is very difficult to predict the course of the disease. I only know that it cannot be cured, you can only treat the illnesses caused by it as best you can. That is a burden.
My health continued to deteriorate despite treatment and the values became worryingly bad. However, my family doctor and other doctors didn’t know what to look for in me that was still normal. So, with the help of my family, I contacted the Rare Disease Helpline of the Center for Rare Diseases. The helpline put me in touch with an experienced specialist from the USZ, Laura Horka. She obtains all the information she can from around the world so that she can treat me as well as possible.
Thanks to her great efforts, I have also been receiving a medication since summer 2022 that is not actually approved in Switzerland but was developed specifically for my illness. The medication replaces the hormone that I lack. The Spitex comes by every day and gives me an injection. It makes me feel much better – I even put up with the injection every day. I only have to go for a check-up every three months. Before that, I had to go to the doctor a lot more often and spent a lot of time in waiting rooms. As well as improving my health, this is also a huge relief for me.
In addition to a diabetes diet, plenty of exercise is important. But I like being out and about anyway, preferably with friends or family. We go for walks by the lake, in winter we go skiing, and once a week we go to a dance group. I also enjoy my pets, two rats. They also like to be out and about, so I simply take them with me whenever possible.
The development is unpredictable
Despite everything, the disease is causing me increasing difficulties, as it is not curable or has disappeared thanks to the medication. For example, I get tired much more quickly than I used to, have less energy and can’t cope with stress as well as I used to. I had to give up my work in the nursery because it became too strenuous for me. I have found a less physically demanding job in a weaving mill that I really like. A year and a half ago, I also moved back near my family, who are very supportive. If I ever need help, someone is always there.
It is impossible to predict exactly how my health will develop. The medication helps me a lot, but it is also very expensive. The health insurance company has to decide every six months whether it will pay for a few months again. The difficulty here is that there are also few comparisons and no clear criteria for what exactly is “better”. My doctor at the USZ has so far managed to convince the health insurance company of how helpful the medication is for me. I am very happy about this and hope she can do it again and again.
