Dorka was born with a very rare genetic disorder, a metabolic disorder caused by an enzyme deficiency. Despite her low weight and visible “oddities” all over her body, her parents did not know how serious the problem was when she was born. Her skull deformity and the lack of both cognitive and physical development became noticeable when she was 1 month old, and that is when they began genetic testing. However, the family had to wait two years for an accurate diagnosis.
Dorka will be 4 years old in two months, but her mental and physical development is comparable to a 6-month-old baby. She cannot hold her head up, her muscles are not strong enough and her motor development is very restricted, so her mental development has also stagnated for 3 years.
His favorite toy is his pacifier, which he won't rest until he gets it, puts it in his mouth, or plays with it by pulling his teeth. He really loves music, or when someone sings to him, and his favorite activity is when he makes noises himself.
The closeness of his parents and siblings makes him happy, from whom he expects caressing and tickling, and he reciprocates this kind of care with a big laugh.
Unfortunately, his condition cannot be influenced medically, but in order to prevent deterioration and to hope for improvement, several therapies have been tried. He is currently being treated by a conductor and a DSGM therapist. As a next step, I would like to achieve head support for him, which could pave the way towards independent movement.
The family's biggest dream is to one day see little Dorka walk independently and hear her speak.
Let's help Dorka and her family together so that Dorka gets a chance to develop 😊