Rare diseases are those that affect one person in two thousand. births. The problem is that there are over 2 rare diseases and new ones are constantly being described. As a result, as many as 200-2 million Poles suffer from them.
Rare diseases have a genetic basis. These occurring relatively frequently – in one in two thousand. people – they are diagnosed quickly. It is completely different in the case of ailment syndromes, which occur with a frequency of 2: 1 million! Most doctors never see such a patient in their practice, so they also have no experience in recognizing their disease.
This ultra-rare group includes, for example, lipoprotein lipase deficiency. Statistics say that in our country with a population of over 38 million, about 38 people with this disease should live. Meanwhile, diagnosed … one.
Of course, the correct diagnosis is only the beginning of the fight. If a drug has been developed for a given disease, it usually reaches an astronomical price. These are often prohibitive amounts for patients. So the NHF is asking for funding. Officials, however, spread their hands helplessly, because the money needed for one person with a rare disease can permanently cure a dozen or even several dozen people with other ailments.
For example, the average cost of treating one patient with Hunter’s disease is $ 900 per year. PLN (and this is not much, taking into account that the costs of Elaprase can be as much as 1,45 million, if higher doses are necessary). The drug does not cure the disease completely, but only alleviates its symptoms and improves the patient’s quality of life, who must take it for the rest of his life in order to maintain a relatively good condition. For the same money, you can buy 10 cochlear implants for deaf children, 23 brain stimulators for Parkinson’s patients or save 13 premature babies born before 30 weeks of pregnancy. It is hardly surprising that officials refuse to finance some therapies because they are faced with a very difficult choice.
To make it easier, QALY was introduced, i.e. the indicator of the cost of obtaining additional life extension. It is calculated by tripling the annual GDP per capita. In Poland, this amount is approximately PLN 110. PLN – this is the top cost that the therapy should amount to annually. Of course, there are concessions to the indicator because, like any statistical tool, it is not perfect.
| S2,1 Annual cost of therapy for exemplary rare diseases. | |
| Wilson’s disease | .5 thousand. zloty |
| Hemophilia | 80 zł |
| Fabry disease | 600 zł |
| Type I mucopolysaccharidosis | 677 zł |
| Gaucher disease | 690 zł |
| Pompe disease | 824 zł |
| Type II mucopolysaccharidosis | PLN 45 million |
Faced with such costs, patients often have to turn to charity organizations, various projects or clinical trials conducted by pharmaceutical companies. The National Forum for Rare Diseases Therapy brings together 29 organizations that help people with rare diseases.
Among their pupils was Michał, who suffers from mucopolysaccharidosis. As an infant he often had colds and was cranky but developed normally. So the parents were not concerned about his health.
It was a coincidence that the disease was quickly diagnosed. Michał’s sister, Ewa, suffers from reflux in the urinary tract. During one of the visits, the doctor suggested that Michał should also be examined on a routine basis. The boy had an ultrasound of the abdominal cavity.
The examination showed an enlargement of the liver. It was already an avalanche from there: another examination, an echo of the heart, which showed a valve defect. At the age of two years and four months, the boy was diagnosed with mucopolysaccharidosis.
A chance for Michał was enzyme replacement therapy, which is not financed in Poland until the age of five. The company that makes the drug has agreed to sponsor it, but sponsored treatment is to be banned soon.
Marysia, on the other hand, suffers from Leigh’s syndrome. Parents became concerned when the girl was still not walking at the age of 14 months. After months of research, she finally found out what was wrong with her. Leigh’s syndrome is an incurable, fatal disease in which the slightest infection is dangerous.
Soon after the diagnosis, the girl’s development stopped, she began to lose weight and had no appetite. There was no medicine on the horizon. After a year, however, it turned out that research on a drug called EPI-743 was conducted in the USA. Attempts were made to organize individual therapy at the Children’s Memorial Health Institute, but to no avail. The desperate parents decided to contact the company producing the drug directly, and thus Marysia was qualified for treatment.
Within two years, the child’s condition improved greatly. However, the girl will have to take the drug for the rest of her life.
In the case of Michał and Marysia, one can speak of happiness. Every year, drug companies refuse hundreds of young patients to take part in research or sponsor a drug. In this case, the only salvation is to raise money – usually through the Foundation.
Based on: http://www.nadziejawgenach.pl/