The story of VANESSA RODRIGO JAKUBOWSKI
My son Emilio (my first born) was born on 6 July 2023. His little eyes didn’t open at all for the first few weeks of his life, and the doctors and nurses told us this was normal, because he was born in Summer and it was very bright outside.
However, after 6 weeks we were concerned and took him to see a private ophthalmologist, who suggested he may have a condition called Blepharofimosos Ptosis Epicanthus Inversus Syndrome (commonly known as BPES.) This means, amongst other things, the baby is born with underdeveloped eyelids, meaning no muscle in their eyelids. Therefore they can’t fully open their eyes. This condition is extremely rare, and is usually passed down through genetics. In our family we weren’t aware of any history of the condition, which makes it a 1 in 50,000 chance.
Our local pediatrician didn’t know anything about why his eyes weren’t ‘normal’, so she sent us to the local hospital but there was a long wait for the appointment. In the meantime we stumbled across an expert doctor on YouTube called Dr Medel. Dr Medel had posted 2 videos which told us everything we needed to know about the condition. This was literally the only source of information we could find at the time. We had no clue what the condition was, what this would mean for Emilio’s vision, how else it could affect him and what we could do to help.
Dr Medel is Spanish from Barcelona, and luckily for us works out of Barcelona and Malaga, and we live in Malaga so we didn’t have to travel far.
We booked a consultation with Dr Medel for when Emilio was 3 months old. At the consultation, Dr Medel told us that if we left Emilio’s eyes the way they were, there would be a high chance that his vision would be negatively affected, as not enough light would enter through the pupils to allow it to develop. In addition, as he would need to tilt his head back to see more, he would develop neck pain and bad posture, plus a whole host of other complaints.. ETC