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20 months old
Turza Śląska, Poland

Igor was born in June 2022 as a healthy baby. Lilianka, Igor’s sister, was very much looking forward to him. She was happy to become a big sister. Igor and I went to the neurologist in December of the same year because of reduced muscle tone and problems with eating. At that point we were recommended rehabilitation. When Igor turned one year old, an EEG test, an MRI scan and a WES genetic test were performed.

The results showed rare mutations in 3 genes: SYNGAP1, Kif1A, RyR1, BTD. After more extensive diagnostics, the mutations in the Kif1A, RyR1 and BTD genes were found to be carriers. Our world stopped for a moment… We found out that there is no cure for the mutation in the Syngap1 gene… However, after a moment of weakness, we got down to fighting for our son’s future!

Igor started to sit up on his own at the age of 15 months and to crawl at the age of 19 months. Our son does not walk or speak, he has a severe visual impairment and astigmatism. The boy is delayed in intellectual and motor development. Despite this, he is a wonderful child who loves animals, music and the swimming pool. Igor also loves playing with his sister – blocks, rolling balls and looking at books. Every day he tries with determination to catch up with his peers. We commute daily to classes with a speech therapist, an educationalist, a sensory integration therapist and a rehabilitation therapist, a neurologist. We are also under the constant care of a dermatologist, neurologist, paediatrician and geneticist.

It is only thanks to such intensive rehabilitation that we can help our son to function on a daily basis. We are facing a real fight for our Igorek’s fitness and independence.