What is it like to be diagnosed with a rare disease?

It must be devastating for anyone to be told they have a rare disease, but instead of resigning herself to her fate, 18-year-old Iliana Mebert's positive approach has meant she has not just been able to come to terms with her own problems but also help others suffering from rare conditions, not least by writing a prolific dissertation for her school-leaving certificate.
 
When Mebert (photograph) was first diagnosed with Takayasu's arteritis, a rare condition affecting the blood vessels, she reacted calmly, in fact perhaps too calmly. It was only six months later that she became depressed, just at a time when she was having to decide what to write about for her school-leaving certificate.
 
While it was not an easy decision to make in her then frame of mind, she decided to write about rare diseases in general and how they affected the mental state of those suffering from them. To this end, Mebert, a student at the Zug Cantonal School, began to contact those concerned.
 
Now, after a year of intensive research which included meeting or talking over the telephone to other sufferers of rare diseases, her 100-page dissertation in English is more like a scientific thesis. Mebert contacted no fewer than 19 sufferers and their families in order to find out about the course of some 17 rare diseases. It was in doing so that she was able to begin to come to terms with her own affliction and approach it in a positive way.
 
"Meeting up with these people opened my eyes like nothing else had done," said Mebert. "What impressed me most was how their attitude to life had changed since their diagnoses. They lived more consciously and did not complain about their problems."
 
This had a tremendous influence on her and her depression has now lifted. "In effect my dissertation helped me to come to terms with my condition, though naturally my family and close friends have been an immeasurable source of strength to me." Indeed, Mebert has concluded that it is this support from others which is so important.
 
Wherever she went to visit other people, she was warmly received, not least because of her compassionate approach in enquiring about sensitive medical issues. In addition, the ProRaris organisation and some of the self-help groups for people with rare diseases helped her, too.
 
In her efforts to investigate what effects the disease had on the mental state of the person affected, she set up a very detailed questionnaire to find out. Naturally, it is impossible to make generalisations in such an in-depth investigation but she did discover that while the effects may be negative, they need not necessarily be so.
 
What was evident in Mebert's findings were the feelings of loneliness and isolation felt by sufferers of rare diseases. Then there is the problem of the costs of treatment, as the health insurance companies are often unwilling to pay for the expensive medication needed. "This in itself can lead to mental anguish," said Mebert, "hence the great importance for self-help groups."
 
While she might not be able to do extreme sports, today Mebert can still enjoy Salsa dancing and horse-riding as before, so her condition does not mean there is a lot she cannot do. She is very much aware, however, that not all are as fortunate as her. This is one reason why she wants her work to be more widely publicised. Indeed, to this end she will be making a presentation about her dissertation in English on Friday 9 March at the Zug Cantonal School at 7.30 pm to which all are welcome. There will also be a short film and an interview in German, with drinks served afterwards.
 
As to her future, Mebert intends to build on the research she has already done and plans to study biochemistry.
 
 


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