The first case of this genetic mutation in Poland! Please save our little son!

Every day, we travel tens of miles to visit our little son Karol, who has been staying in the hospital NICU since he was born in June. Due to his rare genetic disease, we cannot take him home. 

The hemizygous mutation in the X-linked THOC2 gene causes dysmorphic features associated with hypotonia, growth disorder, intellectual developmental disorder, and respiratory failure.  

This type of gene mutation results in developmental issues, including the inability to walk, talk, hear, and see. We're in a dramatic situation - we don't know which disability will reveal first. 

The reason is that Karol is only the third person worldwide and the first in Poland to have the THOC2 gene mutation! Karol's current symptoms include dysphagia, arthrogryposis of the hands, respiratory insufficiency, and limb tremor. 

Karol is breathing through a ventilator and has a G-tube inserted for nutrition. He requires constant physical therapy with rehabilitation devices and others. Despite that, every day, he must fight for his life. 

Karol's therapist teaches us how to take care of our baby boy so that we could finally take him home. We've already contacted the hospice to assess the cost of the medical equipment necessary to keep Karol alive. 

It's like tilting at windmills and being scared each day. Before Karol was born, we didn't even know he had a genetic disorder, and now we have no idea how to treat it properly. We can only ask you for support to provide Karol with the best care possible. We also want to prepare for the battle for his health and his future. At least, with your help, we won't have to worry about treatment costs. 

Karol's parents