Maria Cristina, patient with PKU: “I dream of a life free from the obsession with meals”
1 year ago
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Maria Cristina is 33 years old, works in marketing and can’t eat 80% of the things she has in her fridge. She shares the house (and kitchen) with her partner, but she does not suffer from intolerances or allergies. To keep her away from those foods, which could easily become toxic for her, is a rare disease that demands strict dietary patterns: phenylketonuria, PKU in short (from the English phenylketonuria).
PKU is a hereditary pathology due to a genetic defect that prevents the metabolization of an amino acid, phenylalanine, so those who suffer from it must avoid taking foods rich in proteins (made of amino acids, including phenylalanine) and limit many others, relying with difficulty, for life, to renunciations and supplements. Until today.
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The refusal of the disease
“Living with PKU means never being free – he tells Salute -. It means planning meals and supplements in detail to be taken at different times of the day, always. For me, every day, these are five supplements: powders, bricks, more often microgranules to be diluted with water”. Those integrations have followed her everywhere, since she was born, in full view of all. And if until her adolescence her illness was under control, because it was mainly followed by her parents, something changed after that. As happens to many patients with PKU, an estimated 4000 in Italy: “It was like having to choose whether to undergo therapy or have a social life: for a long time I struggled to pay attention to the organization of food and supplements. For years I refused my illness, I pretended that the problem didn’t exist, it didn’t concern me”.
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Awareness
But then something changed: “At a certain point I became aware of what I had, of the fact that my body needed a few more things to feel good. But that’s not all: I began not to give importance to what other people thought, to have to justify myself, always explain, every time”. Also because if going overboard every now and then does not seem to have immediate effects in the moment, over time things change and become more complicated: PKU is a storage disease, the more unmetabolised phenylalanine is concentrated, the more there is a risk that its effects will manifest toxic, especially on the nervous system. For Maria Cristina this sometimes meant feeling tired, having difficulty concentrating, trembling. For her brother, also with PKU, the cost was decidedly much higher: slightly older than her, he was born when newborn screening was not yet foreseen in his region (in Italy the disease was included in newborn screening mandatory since 1992). Until the age of three, when the diagnosis was made, he ate normally and this had serious consequences. Today her brother doesn’t speak, he has an important cognitive delay as a result of those early years without a diagnosis and without diet and supplements.
Diet therapy, and the right friends
Diet and supplements – not only of proteins but also of other nutrients, such as vitamins and fatty acids – are in fact the cornerstone therapy for PKU and allow patients to lead a fairly normal life. Not without sacrifices: “You always have to organize everything. There are no free meals, dinners out. Or rather you can, but you have to make sure you can eat the usual things: chips, salads, grilled vegetables, or maybe bring your own pasta from home. And repeat the same everywhere and you don’t always feel like doing it, explaining to everyone”. And it can be tiring, very tiring: “That’s why surrounding yourself with people who understand, who don’t make you weigh it, who value being together more than going out for sushi certainly helps”.
The promise of a new life
For three months, however, Maria Cristina has had the hope of a new life. In fact, she has begun a new therapy, one that promises to be a revolution for her and all patients with PKU: it is enzymatic replacement therapy, which aims to provide an enzyme to metabolise phenylalanine from the outside. “I hope to be freer in the future, to no longer have the constant thought of organizing food, but to have the freedom and pleasure of being able to improvise as well”. The real leap in quality would be this for her: replacing the organization of meals and supplements with injections. The new therapy, in fact, consists of a series of injections with calibrated doses for the individual patient: for Maria Cristina today it is one a day. They are done with pre-filled syringes, on the stomach or on the legs, not very different from what millions of diabetic patients around the world already do with insulin. “In the first three months of therapy I had several side effects – high fever, skin reactions and itching – I knew it could happen and now it’s better. At the last check, in December, the phenylalanine values had dropped, a good sign, but I know that there may be increases and that long monitoring will be needed”. This means that even today Maria Cristina hasn’t freed herself from supplements and a food plan: on the contrary, the last three months have been very strict, and anything but easy. But she is ready to continue on this path: “The stakes are too high to risk screwing everything up”.
