Rett syndrome is a progressive neurological disorder that in Uruguay is part of the group of rare diseases due to the low number of cases it presents. According to Alfredo Cerisola, a neuropediatrician and fourth-year professor in the Department of Neuropediatrics at the Faculty of Medicine of the University of the Republic, Uruguay has between one case per 10,000 and two per 20,000 newborns. He explained that it is a genetic change and that it mainly occurs in girls, although “very rarely” it occurs in boys, in which case the syndrome is more serious.
The most common manifestation in girls is explained by the type of chromosomes that each organism has. “Girls have two X chromosomes per cell, the MECP2 gene changes in one of the two and the cell cancels it,” and the chromosome that remains unchanged “complements the one the cell canceled,” the neuropediatrician explained. This is not the case in children and complementation cannot occur because each of their cells is made up of an X and a Y chromosome, so when it occurs it is serious because the ‘Y chromosome, being different, does not complement the X ,” he explained. In both girls and boys, the severity of the disease depends on the number of cells affected.
In girls, the disease usually appears after six months. According to Cerisola, some time before and after the first year they begin to lose the acquired abilities; for example being able to sit. After a year, motor skills such as grasping continue to be lost. From the age of four or five there is a “pseudo-stationary” stage in which “the manifestations of the disease appear to be arrested”, but in any case after this period other complications are likely to occur, including stiffness and muscular and skeletal deformity and periods of convulsions that are treatable but “difficult to cure at the root.”
Regarding the treatment, Cerisola commented that it has not yet been activated and is available. Right now there is only research, so what is being done is to treat each symptom as it occurs.
Finally, the specialist noted that in Uruguay, one of the biggest difficulties that families face is rapid diagnosis, since adequate genetic testing and consultation with a geneticist are not included in the Comprehensive Health Care Plan. For this reason, although both services are managed by the National Reference Center for Birth Defects and Rare Diseases (Crenadecer), which belongs to the Social Security Bank, when a possible case is suspected, it is a process that “delays” diagnoses and therefore treating the symptoms.
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The Sofia case and the “ant path” of the family
Sofia is ten years old and is one of the girls diagnosed with Rett syndrome in Uruguay. Daniela Lima, her mother, said the everyday how the process of finding out what her daughter has and what it’s like to cope with the disease for Sofia and her family.
“Around the year we started to see that there were things that [Sofía] I couldn’t because I was losing others that I had acquired”, recalls Daniela. For example, she was “already sitting on her own, but began to lose stability and move sideways.” He was also “in a world of his own, not crawling but rolling.” Faced with these first symptoms, they consulted their pediatrician, who informed them that the little girl was indeed not acquiring some things “appropriate for her age,” so he referred them to a neuropediatrician.
From that point on, as the diagnosis progressed, Sofia began physical therapy, psychomotricity and other stimulating therapies, until a year and a half later, when she consented to genetic testing, they discovered she had the syndrome. At that time, according to Daniela, Sofia was already almost two years old.
It was a very big emotional stress”, said the mother. After the diagnosis, they started looking for information because it’s a moment when “a page closes because you know what it’s called” but opens “the uncertainty of knowing what’s going to happen,” he reflects.
Cerisola explained several symptoms in Sofia: she lost the ability to grasp with her hand, she did not speak, she was able to eat and chew for a while, but according to her mother, a year ago she had a stomach button because the seizures worsened various aspects and caused her to regress to four and eight years. “Is something [para lo] that there is no cure. What’s happening is relief, you can never cut off the therapies that stimulate it,” Daniela added.
But according to the mother, although she does not speak, Sofia has other ways to express herself and be understood. “With sight and sounds, we’ve learned to understand what he has, what he wants, or what’s going on with him.” Also, “she’s affectionate and loves to socialize,” he explained. For Daniela, understanding a girl with Rett syndrome is “an ant’s way” for the whole family and being fully available. “We are his eyes, mouth and hands,” he said.
When Sofia was diagnosed, Daniela felt “alone”, but through a Facebook page she connected with other families in the same situation. “It has everything, some [de las niñas] they walk, but they need constant stimulation,” he said. On the other hand, he added that those who have a girl with the syndrome go through a great “economic impoverishment” because it is a situation that, due to the treatment it requires, is very expensive and although “the state helps” , for example, with attention in Crenadecer, “treatments are very expensive”.
Although there is no census in Uruguay that describes exactly how many people have this or other rare diseases, all girls with Rett syndrome have access to Crenadecer, “although there are many families”, especially from the interior of the country, “that recently They learn for this and other rights, such as access to a pension” due to disability, Daniela said.
Latina Rett 2022
Rett Latina is a community made up of more than ten organizations made up of more than 500 families and health professionals who focus on supporting and treating Rett syndrome. It consists of seven countries, including Uruguay.
Rett Latina was founded before the pandemic, in 2018, and is now going through its first convention, “which will include the experiences of the Latino families that make up the network,” Daniela said. He added that it would be a “productive exchange because each country has many needs” and he also contributed his specialists and various topics related to the girls’ families would also be discussed. “Caring for the Caregiver,” for example, will center on a dialogue about “who cares for the family,” he said.
“Mothers with more experience help others, especially in certain stages of girls” because everything requires learning: “To know the origin of pain, what hurts them; everything that is taught,” he summed up.
The exchange will take place on October 1 and 2, virtually, as part of World Syndrome Awareness Month. Registration can be done through the following link.