Rafael is a sweet, kind-hearted little boy from Greece, born in July 2017. He’s been showered with love by his mom and dad from the very beginning. In 2022, he was diagnosed with the YWHAG mutation.

 

Rafael currently says about 30 words and is non-verbal in most contexts. He can’t feed himself yet and still wears diapers. He has a 96% disability rating, severe hypotonia, and an intellectual disability. He first walked at the age of four, but only with support, and he still struggles with balance. Even now, at age seven, walking is difficult and tiring for him.

 

His challenges began at seven months old when he experienced his first major seizure while sleeping. It was a terrifying experience: he had 12 generalized tonic-clonic seizures in one day, each lasting more than five minutes, and was unconscious during them. Doctors recognized the urgency and transferred him to a better-equipped hospital. Despite trying multiple medications, Rafael continued to have seizures, and he required oxygen for many days in the ICU. After several months, his medical team found the right combination of anti-seizure medications, though he still experiences myoclonic seizures almost daily.

 

Seeing your child endure constant blood draws, electrodes on his head, and multiple medications a day is heartbreaking. Initially diagnosed with epilepsy at seven months and 47XYY syndrome at two years, doctors believed his delays stemmed from these conditions. But a mother’s instinct said otherwise. In August 2021, a geneticist 500 kilometers away in Athens recommended WES (Whole Exome Sequencing). By 2022, Rafael received the YWHAG mutation diagnosis (pathogenic) and another KCNT2 mutation (possibly pathogenic), leading to additional diagnoses of Developmental and Epileptic Encephalopathy 56 (DEE56) and 57 (DEE57).

 

Rafael attends speech therapy, occupational therapy, and physical therapy. He loves meeting new people, going on long car rides, and playing with electronic devices like mobile phones and tablets. He can count from one to ten, is fascinated by the flags of the world, and sings songs in his own unique way.

 

Finding this group has been amazing for our family. We’re grateful to connect with others who share similar challenges due to the YWHAG gene mutation. Having Rafael is the most beautiful gift of our lives—he has taught us so much, shaping us into who we are today. We truly are the happiest parents.