Unterägeri,25.06.2012

Debilitating disease brings family together

Until they were adolescent, Mathias, Alix and Zita, now 32, 29 and 23 respectively, lived normal lives at their home in Unterägeri. Then Mathias became ill, then Alix and finally Zita, too. For a long time the cause was not known but it turned out all three were suffering from Niemann-Pick (NP) disease, a very rare genetic metabolic disorder which affects fewer than 20 people in the country.
 
The doctors did not take us seriously at first," said their mother Hanny Poincilit, 63, "and my children were given the wrong medication, from which they are still suffering," she said. In the end it was a lady doctor at the University Hospital in Zurich who diagnosed the problem with Alix correctly.
 
Poincilit, who will leave her job as secondary school teacher in Menzingen at the end of this academic year, said, "I now regret pushing my elder son as I did in the past. I used to think he was just lazy, but it was not his fault." The problem with NP is that there are so many symptoms and there is no specific course of the disease. In some cases sufferers experience difficulty hearing while other have coordination problems or the brain may not function as with normal people.
 
When it was confirmed that Zita, too, had the disease, at first she was relieved to know what the problem was but then she became depressed. Fortunately, she sees things more positively today. In fact she decided to write a thesis entitled "Illness as an Opportunity" at the Minerva School in Lucerne. In her conclusion, she wrote, "I make sure I enjoy moments of happiness and try to keep hold of them. I have become stronger and live my life more intensively. However long I have is not important."
 
The 23-year-old had to leave the Zug Cantonal School as she was having difficulties and she currently works in a laundry. Unlike her older brother and sister, she can still follow a conversation easily. "I have to do something where I am always on the move," she said, and she is also doing a course in textiles. "I know what is good for me and what is not," she added. "As I do not know what tomorrow may bring, I take each day as it comes."
 
Despite everything, the illness has definitely brought the family closer together. "We just cannot make long-term plans," said their mother. Both Hanny and her husband, Christoph, 62, an engineer at the Swiss Federal Institute of Technology in Zurich, have had to come to terms with the fate of their children and do everything they can to make life easier for them.
 
Not unsurprisingly, they have seen some dark days. "Sometimes we felt like ending it all," confessed Hanny, though on hearing this, Zita piped up, "I would not do that. After all, I have come into this world for a purpose."
 
Alas some former friends of the family now avert their gaze or cross to the other side of the street when they see the Poincilit family. "But we have got new friends, too," said father Christoph, "and they give us great strength."
 
As to medication, there is none which can cure the disease, but there is one, Zavesca, made by the American Actelion pharmaceuticals company, which can slow it down. Unfortunately a month's supply for the three patients amounts to CHF 20,000 and the health insurance company is not prepared to pay the full cost. Indeed the Swiss Federal Court ruled that the upper limit for an individual patient is CHF 100,000 per extended year of life.
 
Not that this has stopped Christoph Poincilit from just accepting the situation. He has set up NP Suisse, an organisation to ensure that, among other things, sufferers are treated with respect. Now he has close contact with a German self-help NP group and with the international INPDA association. At the moment, he is organising a congress which will bring researchers in the field together. He is confident a cure will be found one day. "After all, they discovered insulin to treat diabetes. With NP it is to do with cholesterol."
 
Supporting the Poincilit family and their campaign for greater awareness about NP are Reto Steinmann and Milena Landtwing, who this  week are undertaking the arduous Transalp Tour, an 806-kilometre cycling tour over no fewer than 17 passes in seven days to raise funds for NP Suisse. In fact the Poincilit family will be at the start in Sölden in Austria, as filming starts on a documentary about how they have coped with the disease. This will then be broadcast on Swiss television next year.