World MPS Day was established 7 years ago to highlight this rare and difficult to diagnose genetic disease.
The disease is named after mucopolysaccharides – chains of sugar particles involved in the formation of connective tissue. With the help of appropriate enzymes, they are constantly broken down and recreated in the body. In people suffering from mucopolysaccharidosis, this process is interrupted due to the lack of an appropriate enzyme. Sugars are deposited in the body, gradually destroying the organs.
Filip and Jaś have a rare disease, the name of which often does not know even doctors, because in Poland only a dozen children have it: mucopolysaccharidosis type 1, MPS for short. A gene error causes the body to lack an enzyme that breaks down mucopolysaccharides. They are deposited in all organs of the body, slowly destroying them – says Magda, the boys’ mother.
Children with MPS develop properly at first. Most often, initial diagnoses are made between 18 and 36 months of age, when there is an excessive accumulation of saccharides in the cells.
Filip was developing well, maybe a bit slower than his peers, because at the age of six months he was still not holding his head well. His adult face attracted attention: dark eyebrows, wide-set eyes. The doctor just in case asked for tests. She was also worried about the enlargement of the liver, says the boy’s mother.
There are XNUMX types of this disease registered in the world. In Poland, XNUMX types of Mucopolysaccharidosis have been confirmed. Each type is characterized by the lack of a different enzyme.
The features common to all types of MPS are:
– enlargement of the liver and spleen
– heart diseases,
– contractures in the joints,
– bold facial features,
– short stature,
– skeleton deformity,
– very common in types I – III, progressive psychomotor impairment,
– very common infections and inflammation of the middle ear, which often leads to hearing loss,
– eye diseases,
– enlarged tongue
We started rehabilitation immediately after the diagnosis. Thanks to this, Philip began to sit at the age of eight months, and to walk when he was two. Since he was 13 months old, he goes to the hospital once a week: he gets an enzyme that his body does not produce – adds Magda.
Mucopolysaccharidosis is a progressive disease with a varied course, a wide spectrum of symptoms and their varying severity. Knowledge about the disease is of key importance to improve the situation of patients, because proper diagnosis remains a big problem.
– Before making a final diagnosis, patients visit 6 to 13 specialists,
– 68% of patients wait for the start of the diagnostic process over 6 months from the first visit to the doctor,
– 36% remain undiagnosed for 1 or even several years,
– 1 in 7 patients remain undiagnosed for more than 6 years