It’s fall 1999. Michał, a resolute six-year-old, sits down at the table to eat a watermelon. Smiling and a bit excited as usual when a piece of juicy fruit lands on the plate. The boy takes the first piece, bites. The astonished mother looks at her son. – Why are you eating the peel? – he asks. Michał cannot answer. He doesn’t know, he doesn’t remember. He forgot how to eat watermelon.
Daria Banicka, Michał’s mother, is in the third month of pregnancy.
It took over a year to find the cause of Michał’s strange behavior. Diagnosis – Niemann-Pick Type C Disease (NPC), also known as childhood Alzheimer’s. NPC belongs to the group of inherited metabolic diseases. Harmful amounts of fats accumulate in the spleen, liver, lungs, bone marrow and brain, disrupting the proper lipid metabolism. Progressive brain damage can cause an inability to look up and down, difficulty walking and swallowing, and loss of hearing and vision. If untreated, the disease gradually leads to death.
The disease is progressing. Michał stops talking, stumbles and falls over. He cannot eat by himself. In 2005, two news from the doctor in charge of the Banicki family, good and bad: there is a drug that can stop the development of the disease! The bad news is that you have to take it for the rest of your life, the National Health Fund does not refund it, and its price is … $ 11 for three weeks of therapy.
Parents send further letters to the National Health Fund and the Ministry of Health. Unsuccessfully. Michał dies in November 2008 at the age of 14.
On March 16, 2000, Michał’s sister, Eliza, was born. As it turned out later, she was also affected by this terrible disease. The first symptoms appeared in her a bit later than in the case of Michał. The girl was already in first grade. The Banicki family did not want to lose their second child and continued their efforts to reimburse the therapy. With no effect.
There are about 30 patients with NPC in Poland, so there were arguments among officials such as “instead of therapy for one, ten others can be cured”. Besides, people from the ministry and the National Health Fund are not lacking in arguments, e.g. according to their information, the effectiveness of treatment is not so great that it would be worth financing it.
It is worth noting, however, that the study of Niemann-Pick type C disease showed that in nearly three-quarters of patients, miglustat led to a stabilization or reduction in the rate of worsening of symptoms.
Despite such obvious evidence, the health ministry finally denied sick children the right to publicly funded treatment in early December 2013.
The parents of several sick children make incredible efforts to get the money they need. Of course, it is impossible to get such sums with your own work, especially since they also have to divide their time between the rehabilitation of sick children and their healthy siblings. So they are looking for sponsors or fighting for one percent of the tax ..
Children, who have constant access to therapy, are in a better condition, have a greater chance of independence, perhaps a relatively normal life and gainful employment in the future (especially since the later symptoms appear – and they may also appear in their twenties) the disease progresses slower).
Every year in Poland three or four children are born with Niemann-Pick disease.
More information on Niemann-Pick’s disease on the websites http://niemannapicka.pl and http://elizabanicka.pl.
Worth knowing
– Potentially, each of us may be a carrier of genes responsible for the transmission and development of rare diseases, but in most rare diseases, including NPCs, no preventive tests are performed to detect a threat,
– there are no prenatal tests that could reveal this disease or the risk of its occurrence,
– usually children with the disease develop completely properly for some time, sometimes it is a few and sometimes several years of their life,
– if Niemann-Pick disease manifests itself in early childhood, it progresses faster. If, in people who are almost adults, it is much slower – the faster the diagnosis and the earlier treatment, the more effective it is.
আমার মেয়ের বয়স তিন বছর। সে এই রোগ এ আক্রান্ত। কিন্তু আমাদের পক্ষে এতো টাকা বহন করা সম্ভব না।আমার বাচ্চাটা অনেক কষ্ট পায়।