“It’s maddening”: the difficult road to a diagnosis of a rare neurological syndrome

Every time the ringtone of Fabián Crespo’s cell phone rings, it reproduces the expression “abu” in the voice of his two-and-a-half-year-old granddaughter Lourdes. It is one of the few words spoken by the little girl, who was diagnosed with Rett Syndrome almost twelve months ago. “My granddaughter speaks, but with her eyes. He expresses what he feels and what he needs with his eyes ”, says the grandfather, who is a kinesiologist and lives in Rosario. Lourdes was one and a half years old when her parents and grandparents began to notice that something was wrong with her growing progress. “Until he was nine months old, his development was normal, but he never walked or spoke. It was when we decided to consult experts ”, says his mother, Camila, 22 years old.

The motor stereotypies (involuntary and repetitive movements) when she did not stop putting her hands on her clothes and hair were the trigger that alerted the family. After going to pediatricians and specialists in neurology, they contacted a geneticist in Buenos Aires who came up with the diagnosis: a rare disease shared by at least 150 Argentine families and that is more common in girls, according to the Association of Syndrome of Rett from Argentina (Asira) .

At the end of this year, Lourdes will be three years old. It barely weighs 10 kilos. “ She does not walk, she does not speak, she is with those stereotypies that absorb her . I give him a toy and he doesn’t hold it. I know she understands everything, but she can’t put it into words. He speaks with his eyes ”, says his grandfather.

He attends ten therapies per week : equine therapy, speech therapy, kinesiology, occupational therapy and visual rehabilitation, among others. “The symptoms are combated, but the disease still has no cure , although it is being investigated in the United States,” said spokesmen for Asira.

Lourdes was rejected in a garden in Rosario , because, according to her mother, they alleged that they were not prepared to take care of her. “They miss having a girl who was going to give them a lot of love. Inclusion in this country is very limited. They should stop putting so many labels, “he adds.

Despite everything, Lourdes’ family does not lose hope that a cure will appear. “The miracles that one expects sometimes come from the hand of science. Hope is not stolen by anyone . It will be a long road, but the research breaks with a paradigm in which only 5% of rare diseases have a cure, ”adds Crespo, who has just created the Rett Syndrome Foundation.

Detection

This condition is a non-degenerative neurological disorder that has a defective gene on the X chromosome, called MeCP2 , which is why it affects mostly girls. “It is often confused with other pathologies, such as autism. The essential thing is that a neurologist be consulted to determine an effective diagnosis ”, indicate spokesmen for Asira.

Alejandro Andersson , a doctor at the Buenos Aires Institute of Neurology (INBA) , points out about the disorder: “Most babies, from birth and up to about a year of life, do not usually show differences in development. From 12 or 18 months of age, they begin to lose all the skills that they had been gaining; to impair their ability to move, to communicate, to use their hands. And sometimes they have seizures. There are also problems with breathing, they can hyperventilate ”. And the neurologist completes: “Everything has to do with an alteration of the message of a gene, called MeCP2, whose mutation causes Rett Syndrome.. This gene, which is DNA, forms a messenger ribonucleic acid that originates a very important protein for brain development, with alterations, and the problems that cause this disease arise ”.

From the INBA they pointed out that Rett Syndrome affects around one in every 10,000 girls in the world and that their life expectancy is around 45 years : “The mutation of this gene in males is not compatible with life, as they have a single X chromosome, while the female has two. It involves around 60 different metabolic pathways and, among them, the formation of the skeleton of neurons, making it a neurodegenerative problem ”.

Luna, the daughter of Asira’s director, Verónica Acosta , passed away in 2019, at just 20 years old. From the age of two and a half, her mother took her every morning to her therapies. In the afternoon, they attended a school for boys with different abilities. “She had several pneumonias, they operated on her for scoliosis and they placed a gastric button when she was only 12 years old and in 2015 they did a tracheostomy. Later we had a normal life, very familiar: we went to every birthday, we traveled on vacations. We did not allow Rett Syndrome to prevent us from doing anything, ”says Acosta.

“Two years ago she had a problem with her tracheostomy and was hospitalized, but she did not survive. Luna never came home again, ”says Acosta.

Advances
“God did not send us Felicitas, a daughter with this particularity. God decided for Felicitas to have the parents she has. A vigorous mother determined to find a solution, positive and determined. And a father willing to give up everything to support her, ” Miguel , her father , posted on social networks .

For three years, he and his wife, Ayelén Rigoni, consulted specialists until they found the correct diagnosis. “At two years, Felicitas disconnected from us . He did not look us in the face for a whole year. I just screamed and cried. I was very irritable. It is very exasperating for parents to know that their daughter has something and that no one comes up with a diagnosis ”, Ayelén says.

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When the different therapies began, Felicitas smiled again. He will turn five next month. “Now she goes to classes, with a therapeutic companion, two weeks a month. She needs assistance eating and changing her diapers, although she is learning to go to the bathroom, ”she adds.

Six months ago they managed to craft an alternative augmentative communication device. “Through an eye detection system, Felicitas selects pictograms -specialized for each case- and the computer reproduces the voice,” Ayelén explains. “I like going to school”, “today I played with my cousins” or “I’m thirsty” are some of the phrases he was able to elaborate.

“We know that he will never regain speech, but we also know that he understands us perfectly. We are discovering alternative therapies that can improve their quality of life ”, he says.

Last March, the couple presented an injunction for the communication device to be covered by their social work. “It is impossible to afford it, it costs half a car,” they say from Asira.