Contents
They live almost normally. Almost, because although Gaucher’s disease is treatable, living with it is not without problems. Patients operate in a regime of two-week visits to hospitals, IVs, tests, doctors … And with a deeply hidden fear that although treatment is available today, someone may decide to take it back tomorrow.
Diagnosis after several years
There is such a child in every school. Seemingly ordinary, it does not differ from its peers in any way, yet it differs a bit from the rest of the group. He exercises a little less, runs a little slower, sometimes he doesn’t do PE at all. Teachers know, but are usually silent. After all, they will not explain to everyone, point a finger, explain why it is so and not otherwise. It’s not their role. Besides, parents often do not wish to do so. Genetic disease – that sounds serious. Often too seriously for children in elementary or middle school. Because how genetic, can it be fatal? And isn’t it contagious?
– No, outsiders have nothing to fear – Wojciech Oświeciński smiles. He is 36 years old, he learned that he was sick when he was a five-year-old boy. – I had very serious stomach problems. Doctors suspected jaundice. In the end, she was excluded, but everyone knew that something was wrong with me – she says. – It was the early XNUMXs, little was said about genetic diseases. Finally, after two years, my parents managed to arrange a stay at the Children’s Memorial Health Institute. The following weeks of testing and research gave me confidence. I have storage disease, Gaucher disease.
Gaucher disease is a genetic disease. It occurs due to the lack or deficiency of one of the enzymes responsible for the breakdown of fats. It leads to dysfunction of many systems, because undecomposed substances accumulate (accumulate) in the liver, spleen and bone marrow, preventing their proper functioning.
Gaucher disease has 3 types. Type I, in which there is no neurological symptom, affects over 90% of patients. sick. The most common symptoms:
– enlargement of the liver and spleen
Feeling tired and weak,
– a tendency to bleeding (nose, gums),
Bone pain (including a tendency to fracture),
– anemia, thrombocytopenia.
Not everyone got treatment
– When I look at my childhood photos, I see a frail, even skinny boy with an unnaturally large belly. This is the effect of an enlarged spleen, which qualified for excision when I was in my teens, admits Oświeciński. Earlier, as a young child, he was exempt from PE classes. Among other things, through the spleen (an accidental blow to the abdomen could burst it), but also other symptoms faced by untreated people with Gaucher disease. – Going to the second floor was an effort which made me breathless. My arm was broken twice. I couldn’t play football, run or play normally with my friends in the yard – he recalls. Oświeciński remembers that he felt bad about it. At the age when well-being is determined by relationships with peers, and a person learns to function in a group, he was doomed to loneliness due to his illness.
Everything changed when he got treatment.
In 1995, sixteen-year-old Wojtek Oświeciński, together with six other people from Poland, was qualified for enzyme replacement therapy, used in the treatment of patients with Gaucher since 1991. The therapy reached Poland thanks to the efforts of people gathered in the Association of Families with Gaucher Disease. Its founders were, among others Oświeciński’s parents. They fought to bring the therapy to Poland, because they knew that the lack of it meant death for the sick. – Six months of treatment gave amazing results – recalls the 36-year-old. The spleen began to contract and I finally understood what it means to feel normal, to have strength and energy.
Travel with small refrigerators
This energy was useful to him, among others during regular trips to Warsaw. – Every two weeks we got on the train with my parents and went to the Children’s Memorial Health Institute. There I was given a drip with the drug and we could go home – he recalls. – After a few years, these trips became less frequent, because treatment in local hospitals became possible. So we went to the Children’s Memorial Health Institute every two or three months. There, we were supplied with medicine dispensed in portable refrigerators. We came home with these refrigerators to take them to the local hospital every two weeks, where the nurses gave us a drip. Of course, today the distribution of the drug is beyond the sick. Our task is only to report to the hospital for its application.
This is at least the case of Oświeciński, who lives in Warsaw. But the sick are scattered all over the country, and not every hospital is authorized to administer a drug for Gaucher disease. – I know a woman over seventy who lives near Białystok. Every two weeks he gets on the train and comes to a hospital in Warsaw for an IV. Fortunately, he has a son here with whom he can spend the night – he explains. Oświeciński does not hide that he would like treatment in Poland to look like in the West one day. – There, the nurse teaches the patient to administer an IV drip, and then he himself takes care of it at home. He comes to the hospital every few months to get tests.
With treatment, diagnosis is not a judgment
The cause of Gaucher disease is a mutation in one of the genes (GBA gene). The disease is inherited in an autosomal recessive manner, which means that for symptoms to occur, the defective copy of the genes must be obtained from both parents. If you take over only one mutant copy, you are only a carrier of the disease.
It is estimated that the disease affects one in 40. people. Statistically, it is more common in the inhabitants of Eastern Europe. In Poland, theoretically, about 700 people have Gaucher disease. About 70 are diagnosed and treated.
Why only so many? – The course of the disease may vary. Very sharp or so mild that people for years do not even suspect that something is wrong with them – says Wojciech Oświeciński. – Physicians’ knowledge of rare diseases is another issue. I deal with a lot of them, and although every time I mention that I have Gaucher disease they nod their heads and say they know what’s going on, I’m not so sure.
This is one of the reasons why the Association of Families with Gaucher Disease, whose president is Oświeciński, is taking part in the international action “Steps ahead of Gaucher” for the second time this year. The participants of the “Run Warsaw” event are given green laces. People who run with them symbolically take a step of support for people suffering from Gaucher disease.
– We are lucky because this disease is not a sentence today. Thanks to treatment, we are not a burden to anyone, we can live normally and enjoy everyday life – Wojciech Oświeciński admits that this everyday life is primarily a family for him: a wife and two children. The son is five years old, the daughter is one and a half years old. – Am I afraid for them? Not. The wife is healthy, so our children are probably only carriers of the defective gene – she explains. The head of the Association of Families with Gaucher Disease emphasizes that the most important thing for patients is awareness of the availability of treatment in Poland. Only this is the guarantee that the diagnosis of “Gaucher disease” is not a judgment. Thanks to therapy, it is possible to live with it normally and without major restrictions.