Marcell was born naturally at 37 weeks, with an Apgar score of 10/10.
After his birth, he was immediately transferred to the neonatal unit because his breathing was very rapid.
At the age of 16 months, Marcin had an epileptic seizure, which was followed by several in the hospital. He received medication, but unfortunately he was unable to completely stop the seizures, and he often lost consciousness.
Marci's speech had not started and his movements were also delayed. The family did everything, they went from doctor to doctor, but no one could tell what Marci's illness was.
At first, they thought he had epilepsy because he couldn't start developing, then they diagnosed him with behavioral problems and hyperactivity. Later, Marcell was taken to a geneticist, where they started testing him for various syndromes, but no abnormalities were found here either.
After two years of continuous examination, during a research it was revealed that Marci suffers from a disease called creatine transfer deficiency. He is the only registered patient of this kind in Hungary. They could not help him at home, so 1 year later they traveled to Vienna for help.
Marcell has no siblings, as this disease is inherited genetically.
He is currently taking creatine, arginine, and glycine to try to replace the creatine missing from his body.
Marcell has a moderate intellectual disability, he cannot speak, write, read, or toilet train. He is currently at the 2-3 year level. The family is doing everything they can to ensure that Marcell can participate in as many developmental activities as possible, but they need help. Marcell would need complex special education, speech therapy, and movement development for his development.
The family's biggest dream is for their boys to live a more livable life.
Let's help Marcin and his family get the chance to develop and get one step closer to achieving their dream!