TEXT: FRANCISCO JAVIER SANCHO MAS IMAGES: LEAFHOPPER
SUPERHÉROES DE BARRIO
Rett syndrome (RTT) is a rare disease that primarily affects the development and nervous system of little girls, given that it is caused by a problem with a gene located on the X chromosome. Sara is one of the princesses in this tale, a girl who, one fine day, stopped interacting with others, and locked herself in her own little world. Seven years later the diagnosis arrived: Rett syndrome.
would like to present one of the true protagonists of this story. A princess who came from the Far East 12 years ago and lives in Calle Embajadores in Madrid. In Spain she is called Sara, but her Chinese name is Xiaoying (which means transparent dawn). Her father, Jaime Alcacer, is 48 years old. It is half past seven on a cool morning in Madrid and Sara is having breakfast with the help of Carol, another of the key people in this tale in which everyone is determined to do all they can to battle Rett syndrome. But, what exactly is Rett?
“It’s a real bitch,” Jaime sums it up succinctly to explain what it means to come face to face with a reality far removed from the expected happy ending.
This syndrome primarily affects the development and nervous system of little girls, given that it is caused by a problem with a gene located on the X chromosome. As females have two X chromosomes, the healthy one enables the girl to keep living. It is not often found in boys, as they only have one X chromosome, and so it generally leads to a miscarriage or premature death. It is related to autism spectrum disorders. Baby girls with Rett syndrome usually do not have any symptoms for several months or even years. There is no cure. And, while life expectancy is long, they constantly require special care and attention.
And we ask him – well, we do not ask, but rather insinuate – that a life like that must be tough. “My life with Sara, you mean? It’s the greatest happiness I’ve ever known,” Jaime responds categorically.
The princess in the parlor
Sara is in the parlor, having breakfast. With a mischievous smile, as though seeking something hidden in Carol’s gaze. This 32-year-old therapist lends Jaime a hand in the morning and, in addition, is the one who coordinates the therapy sessions with horses that Sara has some evenings.
“She focuses everything in her gaze,” Carol tells us, “it’s really penetrating, for both positive and negative expressions. They have developed it that way, as it’s their way of communicating”. Sara has the usual signs of a Rett syndrome princess: the stereotypical sign – repetitive hand movements – as though she was constantly rinsing them. Sometimes she even sticks them into her mouth, as though she does not know what to do with them.
Sara arrived in Madrid in 2007 after a lengthy adoption process. At first, they did not notice anything unusual. She related to her surroundings like any other child: she was speaking and playing with her dolls. But, one fine day, she stopped and locked herself in her own little world.
Her parents did not receive a diagnosis until seven years later, thanks to a research team in Barcelona. Most doctors know little about this Rett syndrome and tend to identify it with autism or other general developmental disorders.” Every Tuesday, Sara has hippotherapy and physiotherapy sessions; Wednesdays, music therapy, and she visits an osteopath every other week; Thursdays are for physiotherapy and numerous other activities. The cost of all these therapies and treatments can reach 1,500 euros a month
The special school
We accompany Sara to her special education school ‘Fray Pedro Ponce de Leon’. There are a total of 122 students in this center, aged three to 21, attended by 34 teachers and 25 other professionals, between physiotherapists and ancillary and administration staff. Its director, María del Carmen Fernández (Mamen), welcomes us with some of her teachers and they show us around the facilities with Sara and Jaime. We see the auditorium where they usually hold two functions each year and other areas such as the stimulation rooms, where the kids experience other sensations, such as musical vibrations, on a thermal mattress. Jaime asks Mamen to show us Tobii, a visual communication eyetracking application that enables Sara to move the mouse pointer with her eyes. A teacher starts a game and she moves the pointer around the screen with her eyes, selecting one figure or another. This prototype is expensive and is on loan at the school for Sara and her classmates to use. “Thanks to Tobii, a girl managed to communicate that the desserts she liked were vanilla flavored, and not the chocolate ones they were always being given,” Jaime recalls with a smile.
That a Rett syndrome princess can communicate her dessert preferences is no small feat; rather, it is one of the greatest advances and aids that technology and research can bring to these people with special needs. This communicator was developed by the firm BJ Adaptaciones.
The emotional intelligence of horses
Carol, the therapist, receives us at La Finca Venta La Rubia, a former stud farm in Alcorcón. “The first time I worked with a girl with Rett was 18 years ago. I’ve known Sara since she was six, and the therapy with horses is really good for her.” The first thing the children feel when they mount a horse is that the temperature rises slightly. Horses give off a very pleasant heat. And the movement of their legs means that the children exercise the left and right sides of their body as though they could walk. Today, Sara is also exercising her arms with Carol’s help, as they brush the horse together.
The Rett dads
Jaime has been in the Mi princesa Rett [My Rett Princess] association for five years. “We fight for more research and the daily well-being of our girls. The vast majority of what we raise goes to research, which is so expensive, but we also offer grants to families with Rett syndrome girls. The therapies are very expensive and an averageincome family could not afford them.” Thanks to the funds they raise, 17 Rett syndrome girls receive 1,200 euros for extracurricular activities in various locations around Spain. “They include hippo-, physio-, hydro- and music therapies,” says Jaime. “Their memory is reset every day. They forget everything they learn from one day to the next. Thanks to these therapies, they retain some skills.”
A therapeutic center for girls with Rett syndrome and other kinds of disabilities will be opening in Madrid shortly, thanks to the support of private companies and donors. Located in Villaverde Alto, it is similar to the first one opened in Badajoz, where the association run by Francisco Santiago was founded. In Madrid alone, there are 50 girls diagnosed with Rett syndrome, and some 3,000 in the rest of Spain.
The association enjoyed a great boost thanks to the support of an exceptional patron, the flamenco dancer Sara Baras, later joined by others such as the actors Dani Rovira and Clara Lago, and the Ochotumbao foundation or the TV presenter Eva González, for example. Thanks to the funds raised with the help of events, calendars sales and contributions such as that of Fundación MAPFRE through its Sé Solidario program, a research team at the Sant Joan de Deu Hospital in Barcelona is striving to find a therapy for girls with Rett syndrome. Whether the team can keep working depends on the fundraising endeavors of these parents.
We met up later in Barcelona with a group of Rett dads. It was a special day. They were about to hand over one of the checks they give the Barcelona research team several times a year.
Once upon a time… the researchers
Àngels Garcia and Alfonso Oyarzabal are two of the thousands of researchers who spend hours in obscure laboratories, often with insufficient recognition of their work. We enter the only laboratory in Spain investigating a possible treatment for the Rett disorder. Àngels is a neuropediatrician and Alfonso is a biochemist.
Àngels explains that they are seeking treatments based on both existing and new ones, in combination with natural products. “Working in the rare diseases research sector is difficult given how much remains unknown; however, in recent years, we have seen significant progress, thanks to advances in our knowledge of the genome, and we are seeing light at the end of the tunnel.”
Together with a small team which receives the assistance of a laboratory technician and a post-doctoral student, the result they are pursuing is to achieve a combination of drugs and nutritional supplements that attack the mechanisms whereby this disease causes such damage. They are not dreaming of a cure in the short term, but rather an early treatment that can be adapted to each developmental stage of the affected person.
Without the funds raised by Mi Princesa Rett – some 50,000 euros a year mainly earmarked for this research team – they would only achieve 40 percent of what they manage. Today the Rett dads are here to hand over a check for 20,000 euros, fruit of their latest fundraising drive.
Keeping up the spirits
Los protagonistas de esta historia de princesas saben que aún queda mucho por contar. Jaime, por ejemplo, es consciente de que posiblemente él no verá una cura, pero al menos espera que Sara mejore su motricidad con la investigación en terapias y tratamiento. Y que pueda dormir mejor sin sufrir de apneas peligrosas.
Jaime nos habla, al despedirnos, de la rueda de la felicidad. «Si veo a Sara feliz, yo soy feliz, y si ella me ve feliz, es más feliz, y ese es el final que merecen las princesas».