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Tuesday, May 28, 2024

A disease that turns girls into silent angels. The reality of children suffering from Rett syndrome

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Silent angels – this is the name given to children who stop talking, walking and following their parents with their eyes. Parents of girls with Rett syndrome see that they suffer. Among them is Gaja – it cannot be cured for now, but the development of the disease can be slowed down. Perhaps until we learn how to treat it. This therapy requires a lot of money. Lena is already using it and it looks like it's worth it.

So much pain that it seems unbearable. Gaia, who is almost two years old, suffers when she tries to take a step. Her parents suffer as they see how the disease is taking their daughter away from them, step by step.

It happens once in 15,000 births. It is often confused with infantile paralysis

– I don't think I've ever been so afraid. I've already experienced difficult things in my life. The illness of a tiny, beloved child is yet another experience – says Adam Starecki, Gaia's father. Gaia has Rett syndrome. They have known the diagnosis for a month, but they do not intend to give up.

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– That she will not suffer, that she will walk, enjoy this life, that her brother will also be happy, that they will have fun together – says Julia Starecka, Gaia's mother, with hope.

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Rett syndrome occurs once in 15,000 births. It turns girls into silent angels. He gradually loses the ability to speak and walk. It locks itself in the body and destroys it with epilepsy attacks. It is often confused with infantile paralysis or autism spectrum disorder.

A daily dose of the drug costs a thousand dollars

Gaia's parents were worried about, among other things, involuntary hand movements, but doctors ignored their concerns for over a year. – The doctors' reaction was that maybe my wife should seek psychiatric therapy because she sees a disease in a healthy child – says Mr. Adam. – This is a degenerative disease. This means that what Gaia can do today, she may not be able to do tomorrow and we really don't have time. – adds Mrs. Julia.

Although there is no medicine today that would help Gaja regain her health, there is one that slows down the progression of the disease. A daily dose costs a thousand dollars. Once therapy is started, it cannot be interrupted, so Gaja needs over PLN 7 million for several years of treatment. Support is necessary.

Three-year-old Lena, during a check-up with Professor Chrościńska-Krawczyk, was the first patient from Poland, eight months ago, to start taking a preparation that slows down the disease. The drug is still waiting for registration in Europe. That's why Lena's father flies to the United States to buy syrup once a month.

Work on gene therapy is underway in the United States

Collections are still underway to provide enough money for further doses for Lena. The girl is feeling better. The epilepsy attacks stopped. – Cognitive contact with Lenka has improved, i.e. focusing on the person who is speaking, following an object with her eyes, being able to say a single word – reports Professor Magdalena Chrościńska-Krawczyk, head of the Department of Pediatric Neurology at the University Children's Hospital in Lublin.

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– She started going to kindergarten, which was previously unthinkable – says Bartosz Szczepański, Lena's father. – I dream of just going for a walk with her and talking to her – admits Anna Szczepańska, Lena's mother. Dreams may come true one day, thanks to gene therapy, which scientists in the United States are working on intensively. It may be available in two or three years. – I hope that the effect of gene therapy will be such that it will stop the development of the disease. Treatment involves intravenous, one-time infusion – explains Professor Chrościńska-Krawczyk. Until the therapy is registered, Gaja, Lena and other girls must be in the best shape possible, which means exercising hard and taking available, expensive medicine.

– Everything is in our hands to write a happy ending and that's where we are heading – says Gaia's father.

Main photo source: TVN24



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