We are fighting to prevent the disease from depriving Ola of mobility!

Ola has been having health problems since her birth. At first, these were the typical difficulties that come with premature birth – she was born at 34 weeks. Unfortunately, her condition was more and more concerning with time.

Due to hypotonia, she needed constant rehabilitation when she was an infant. Just before her 5th birthday, she experienced the first epilepsy attack and then there were further diagnoses, among others, epilepsy and ADHD.

The fact that she received so many diagnoses in such a short time was bothering us. In March 2025, we had the WES TRIO genetic test done. The result that we received in August confirmed the worst scenario... A rare, pathogenic mutation of NUS1 gene was discovered!

In the whole world, this variant was observed in less than 100 people and Ola is the second girl in Poland who has it. The fact that it is untreatable is the most difficult to accept. The doctors highlighted that the only chance for our daughter comes with intensive physiotherapy. There is a chance that if we put more work into it, the disease will take less mobility with time.  

This mutation is responsible for all Ola’s disorders and with age, her condition is going to worsen. In the case of teenagers and people after their 20s, symptoms similar to Parkinson's disease may appear. At first walking starts deteriorating and then, they cannot move around on their own. 

For us, as parents, this diagnosis is devastating. Until now, we have been doing so much to support Ola and we have always tried to pay for everything on our own. Unfortunately, the costs of rehabilitation, rehabilitation stays and various classes – due to epilepsy Ola has to take them individually – are too high for us. We would like to expand the diagnostics scope and test metabolic parameters but additional costs come with it...

Please, help us fight for our daughter’s mobility and joyful everyday life. We cannot handle this on our own but together, we can do so much more! We will be grateful for any kind of support!

Ola’s Parents