A rare disease that affects more girls causes movement and language disorders – 09/27/2022

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Sofia (10 years old) had a normal pregnancy and delivery. But at nine months, his parents began to notice that he wasn’t doing things that were appropriate for his age. It was not crawling, but rolling (rotating around an axis). He sat up, but at one point he began to fall to one side. Her surroundings did not interest her, but she was very much connected to the television or had a lost look. They spoke to him and he did not answer.

“By nine months, you put her in the walker and she was coming and going, grabbing the sweets from the table with her hand and putting them in her mouth, playing with the fridge magnets…” her mother Daniela recalls. until then it was how she lived with her older children and little by little Sophia began to lose.

The pediatrician’s first reaction was to give her time, but when that didn’t change the picture, she referred her to neuropediatrician, who ordered a series of conventional tests to rule out diseases. Since everything was negative, the next step was to state a genetic testing. The little girl would have turned 2 years old.

“For me, what Sofia has is Rett syndromethe neuropediatrician told them. Daniela ran off to look up what it was on the Internet, something she now advises other parents not to do, because what she found “was devastating,” she said. And not to mention when the diagnosis was confirmed.

For Sofia and her family, a trip typical of Bulgaria has come to an end rare diseaseswhose average time to diagnosis is about five years.

“The Rett syndrome It is a neurodevelopmental disorder that affects children in the early stages of every personal, social, academic and later work. This is a genetically determined disease,” the pediatrician explained to El País pediatric neurologist Gabriela Delucci.

The evolution varies in each case, but usually presents with partial or complete loss of language skills, motor problems (some affected never walk), reduced eye contact, and loss of functional use of the hands. They also have trouble breathing and swallowing.

“I’m starting to reduction in head circumference growth. Most famously, they lose their language if they have acquired few words and the purposeful use of their hands. Instead of using their hands to manipulate a toy, they begin to have movements that have no function, such as washing their hands, clapping or slapping their hand in their mouth,” the neuropediatrician described.

All this means that the disease is suspected in the clinic, but the way to confirm it is with genetic testing in which the search MECP2 genewhich is the first described.

“If clinically we think it’s a girl with Rett and that gene is negative, there are other candidate genes that are also seen, and in that case we look for them. They are genes that are usually seen in Rett, which we call atypical, in girls who start with very severe epilepsy shortly after birth or, on the contrary, girls who retain their language until old age and do not have as much cognitive impairment,” said the specialist .

This is a disease that is observed primarily in girls because the gene mutation is found in X chromosome. “There are cases of males, but they’re much rarer because they’re supposed to be lethal,” Delucchi said.

Life expectancy has increased over time and they live to be young adults.

Lack of national census and more attention in internal affairs

The Rett syndrome It affects one in every 10,000 girls, which is why it is a a strange disease. In Uruguay, there are about 20 girls who suffer from it, but this is an approximate number, considering that there is no national census of rare diseasesone of the big ones should be denounced.

“We don’t have the support of a psychological team,” complained Daniela Lima, creator of the program. Rett Syndrome Support Group, Uruguaywhich exists since 2017.

“One of the goals is to achieve early detection as well as to make the public aware of inclusion of girls with Rett syndrome in all settingsto allow their global development and a better quality of life”, they found from this group, which intends to reach all corners of the country, another of the great deficits that exist in terms of attention and information.

In the networks are present on Instagram and Facebook.

Rett syndrome

It owes its name to Andreas Reth

In 1966, this Austrian doctor described cases of girls with repetitive hand movements accompanied by motor problems and mental retardation.

Sofia’s journey.

As they absorb more information in the early years, Daniela and Javier try to stimulate their daughter as much as possible. “What Rhett has is that the things they acquired eventually get lost, and the ones they never acquired will do it again,” Daniela pointed out.

So she remembers her daughter coming to say “mommy,” “daddy,” and “agua”; today communicates only with a look and a smile. “One learns to interpret their gestures,” he said. Although at first they are isolated girls and therefore they are often mistaken for autistic patients, at some point they change and like to be surrounded by people and outdoors.

“They like the music. Sophie’s favorite band is scarf; he loves it Blue cottage Y Enchantment of the soul. He loves too equine therapy and he’s been going for eight years,” he added, not forgetting the difficult stages, such as when he was hospitalized due to increased seizures or when he lost a lot of weight due to difficulty swallowing. The solution was to put a belly button and everything changed for the better.

She went to an ordinary kindergarten until the age of 3, when the differences with the other children were already very noticeable and she was changed to Roosevelt Schoolspecialized for children with motor and intellectual disabilities.

It should be noted that girls with Rett are 100% addicted for life.

Without wondering why they had to go through this – although she admits that everyone does in the beginning and her family is no exception – Daniela prefers to think that Sofia chose them.

“We’re a very tight-knit family because it changed our lives. We learned from her to enjoy what we have as a family. What we want is a good life for Sophie and for her to be happy”, summed up a mother who did not give up.

There is no cure, the symptoms are treated by specialists

“There isn’t one prescription for treatmentone adapts it to each patient according to the comorbidity that manifests itself more”, informs El País pediatric neurologist Gabriela Delucci.

The Rett syndrome there is currently no cure, what is done is treat the symptoms. That is why it is required to have a multidisciplinary teamsomething that is not easy.

For example, very often epilepsy and then deal with the crises. Since they are hypotonic or soft girls, this leads to motor retardation and abnormal postures, especially of the spine. In this case, resort to physiotherapy.

Very often they have difficulty swallowing, which determines the approach to speech therapists or gastroenterologists for digestive problems.

Pulmonologists deal with respiratory diseases.

A treatment that shows good results, but always depending on each case, is the use of cannabis oil. “They’ve helped Sophie a lot, it’s been a big change,” said Daniela. Delucchi explained that in this case, it served to improve the girl’s interactions, but it did not resolve the epileptic seizures that occurred in other girls.

The specialist emphasized that what Uruguay needs is to have reference center which centralizes all treatments. Today they are served in crescent moon (BPS).

Rett syndrome

Virtual congress with experts and families

The next 1 and 2 October will be held First International Reth Congress in Latin Americawhich will bring together virtually families and experts from different countries in the region.

The lectures will be held on timely diagnosis and specialist therapies and treatments and patient stories will be shared to generate a family support network.

Uruguay, as a member of Latin ret, is the organizer of the congress. The Uruguayan psychologist Count Gustavo He will talk about the role of the caregiver.

To participate, you must make an economic contribution, the amount of which is determined by the interested party; Scholarships will also be awarded to those who cannot pay.

For more information: asociacionrettosdeamor.com/rettalina.

Rett syndrome
Sofia has been doing equine therapy for 8 years and it is working very well for her.

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