Sunday, December 4

This is what it’s like to live with Rett syndrome



Soraya yells for the phone but nothing extraordinary is happening. Her daughter, Patricia, has Rett syndromea weird illness caused by a mutation of the MECP2 gene that, among other things, prevents him from speaking. That is why his only way of expressing himself when he does not have his electronic communicator are the sounds that for the rest are incomprehensible.

Still his mother understands him. “Right now I am dressing her, she is not seeing her drawings and this is her way of showing her disagreement,” she explains with amazing normality despite the fact that her daughter is one in 10,000 girls. The X-linked disease causes Patricia, 7 years old, comorbidities such as sleep disorders, difficult-to-control epilepsy, respiratory and digestive disorders, ataxia and hypotonia, and despite all that this entails, Soraya has hope.

And it is that although it is a rare disease, it is very abundant. It is estimated that there are 3,000 families in Spain alone and this high prevalence makes research increase more and more. Of course, the eyes and hopes are set on America, where “gene therapies are being carried out that really” could cure the syndrome.

“In Spain, more research is being carried out to alleviate the effects of the disease, improve quality of life or to understand how the gene works, but the cure will come from American research», Soraya points out. This makes the mother fear the high price that she will have when she finally approves one of the cures that are pending. «They say that within a couple of years or three they hope to have it in the United States. It scares me how it can get price here ».

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There are several open investigations there and the most advanced at the moment is a clinical trial with adult women with Rett in Canada. “We go blind”, notes Soraya cautiously, but points out that “there is a part of the syndrome that can be reversed. That yes, if you have generated a scoliosis that is not going to be corrected ». With the hope in this essay, what they are trying to do with Patricia is that the disease does not progress so that when the cure arrives, the little girl is “in the best conditions and thus it costs her less to recover,” she explains.

a conditioned life

While the long-awaited cure arrives, Patricia and her family live a routine completely conditioned by her multiple disabilities. “I already have it so normalized that I don’t realize it, but it really affects us all,” says her mother.

Even before the diagnosis, his life had changed. When she was a baby, Patricia’s parents noticed that her development was slower than normal, but at the pediatrician they were told that “every child is a world.” Not content with that, Soraya and her husband went to a pediatrician in Barcelona who detected a gesture that betrayed the disease. “Saw that He looked up at the ceiling and threw his head back. That’s a warning sign and as a result of that he did several tests and referred us to neurology and early care, ”he recalls. So the little girl was 18 months old.

During frequent visits to the doctor, they confirmed that “his rate of development was very slow”, but they still did not know what was wrong with him because the general genetic tests were correct. They did see alterations in an MRI and it was already sensed that she was not going to speak. It was then that the palming which has now resulted in a lack of control in his hands.

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Patricia barely uttered four words and had not yet started walking when, at two years, the regression began. “She could no longer eat by herself and she lost gross motor skills,” Soraya says. After a negative Rett test, the family and the doctors insisted on performing a second one that was finally positive for classic Rett.

“Although we already suspected it, at first it is a shock and the first thing you do is look for families who are going through the same thing. In this, social networks helped me a lot, “says Soraya, who spreads her day to day through the Instagram account @elmundodepatrirett.

For Soraya, the worst part was being told that her daughter had a rare, incurable disease. “When they tell you that life expectancy is suspected early, it is hard to assimilate at first, but then you learn a little to live from day to day,” she says.

And it is that the comorbidities of Rett syndrome such as the pathological respiratory pattern (such as apnea or hyperventilation) or cardiological alterations increase the probability of sudden death in these patients according to the Spanish Association of Rett Syndrome.

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