Grzesiu Buzderewicz

Fragile X syndrome… is a progressive genetic disease that my son struggles with every day…

Disturbing symptoms of the disease appeared already during pregnancy. We experienced great stress because during the first prenatal tests the doctor suggested a high probability of Down syndrome. After the results of the amniocentesis, all genetic diseases that could be detected by this test were ruled out. We were happy, but our joy did not last very long.

After birth, Grześ underwent a standard hearing test, which revealed blocked auditory passages. Despite this, the doctors assured that everything was normal and the bad result was caused by flooding of the ear canals with amniotic water. The tests were not repeated later. For the first 8 months of our son’s life there were no major disturbing symptoms except that he had decreased muscle tone. We were reassured that everything was within normal limits.

However, I felt that something was wrong. Grześ was two years old, and he was not developing like our other son – he didn’t babble, he didn’t talk, he had huge problems with sleeping. It was only after the two-year-old’s physical examination that the hearing test was ordered again. It revealed severe hearing loss. Then the whole machine started, intensive physical rehabilitation began, and he was fitted with hearing aids. At the time, the doctors related all developmental problems to hearing problems. Over time, numerous infections and blood clotting problems appeared.

We found a hematologist who referred our son for genetic tests, for which we had been waiting for a year! It was only when he was four years old that it was discovered that our son suffered from a rare genetic disease.

Fragile X syndrome is the second most common cause of intellectual disability and may be accompanied by other comorbidities. We do not know what symptoms will worsen in our son. Currently we focus on the present and try to minimize underdevelopment and cognitive disorders. We are conducting further neurological diagnostics because epilepsy is suspected.

Hard and expensive rehabilitation brings results. Grześ attends physiotherapy to treat the reduced muscle tone and joint laxity. We also use the help of a speech therapist. Additionally, Grześ attends classes with an educator and psychologist and is covered by an early development support program. Furthermore, Grześ suffers from aphasia – he knows that I am his mother, but he often calls me „daddy” and vice versa, he learns and after a few days he forgets the meaning of new words. He wants to say them, but he cannot. In addition, Grześ cannot control his aggression and outbursts of anger – he cannot explain to us what he needs and that is why he reacts so violently.

Despite so many development problems, our systematic fight brings results. Grześ, at the age of less than five, cannot speak full sentences, but he has learned to say single words. We know that for our son to be able to function properly, we need further diagnostics and rehabilitation. So far, our grandparents helped us with the expenses, but the amount of them began to exceed our budgets.

That is why we are asking you for even the smallest support so that our Grześ does not lose the opportunity for a successful future.

Thank you very much for every little gesture of help!

Grześ’s mother and the family. 

If you want to make a payment by traditional transfer:

Fundacja Drobne Gesty 

Title: donation for Grzegorz Buzderewicz

Account number: 98 1140 2004 0000 3502 8359 9291 (mBank)

IBAN number: PL98 1140 2004 0000 3502 8359 9291


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