Martina’s rare disease day: “If I live a normal life, it’s thanks to science”

Martina’s rare disease day: “If I live a normal life, it’s thanks to science”

by Marco Innocenti

“As soon as I was born, I was diagnosed with phenylketonuria: I sniffed it on my arm and told my new parents my life, to reassure them”

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He is 27 years old, has a degree in marine biology and lives a practically normal life. But Martina Manuel, Curly hair and an infectious smile, she has a little secret (which isn’t really a secret): It is affected phenylketonuria, A rare genetic condition that can be diagnosed and treated in the first days of life if undiagnosed and treated It leads to severe neurological damage. his body really Does not produce a specific enzyme Which has the task of converting phenylalanine into tyrosine. Basically, Martina can’t eat any type of protein. If he eats them, he will soon have a buildup of phenylalanine in the blood which can lead to Brain toxic.

It affects one in 10,000 children in Italy – Martina tells us – Phenylketonuria is above all a powerful cultural symbol: it was in fact the first genetic disease Guthrie was able to diagnose with a few drops of blood from newborns. I was just one of those lucky babies whose newborn screening allowed an early diagnosis, or else I would definitely have reported severe neurological damage. In fact, I’m doubly special because in the early years of my life I had to follow a protein-free diet, and take specific amino acids, but then, from the age of 18 onwards, thanks to an experimental treatment, I was able to diet quite a natural diet. But a vegetarian.”

Martina faces her illness with a smile but more than anything else she faces it with her desire to say for all that His life is completely normalespecially for new parents who have just learned that their child will be born with PKU: “I would like to tell those who are about to become a father that you can live well with this disease – explains Martina – When they’re diagnosed, they go online and discover that it can cause severe brain damage and cognitive deficits. And of course they are scared to death, just like my parents were at the time. Then I met them and I explain to them what my life was like and how it is today. tell them that qAnytime I went to a birthday party or swimming competition away from home, I always had my own food with me – explains Martina – But that’s it. Today, if I go to a pizzeria with my friends, I take my pizza which I cook in the local oven and then enjoy the evening.”

And to prove it, so is Martina His illness is tattooed on his armwith a fighting fish and an octopus, as if to say that with fighting and intelligence no challenge is impossible.

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