Described in 1966 by Austrian doctor Andreas Rett, Rett syndrome is a rare genetic disease that causes problems in development and the nervous system, mostly in girls (one case in every 10,000 to 15,000, ten times less in boys). “When they are born you don’t notice it. It is a disease that affects a gene that orchestrates when the brain begins to mature. When girls reach a stage of development that is normally between six months and a year and a half, it begins to be noticed that there is a problem,” explains Paula Bolzani Prunés.

Paula Bolzani is Luli’s mother, who was born in 2000 affected by Rett syndrome. At 14 months the girl began to make strange gestures with her hands. A month later she stopped talking. The total or partial loss of manual skills, the total or partial loss of oral language or the impossibility or difficulty of walking are classic symptoms of the disease, which usually causes a disability of between 75 and 100%.

The family lived in Argentina and, after a series of visits to doctors in the country, traveled to Barcelona. At the Sant Pau hospital, molecular tests were carried out to detect Rett syndrome, which at that time were only carried out in two other countries: Israel and Canada. “She was diagnosed the same day, although the result of the test that determines exactly in which gene there is a lack of protein took five years,” recalls her mother. The neurologist Mercè Pineda informed him about the existence of the Catalan Rett Syndrome Association (ACSR), which has just turned 30 years old.

Today, Paula Bolzani is a member of this organization, which brings together fathers and mothers of affected girls with the aim of achieving an improvement in their quality of life and being a meeting place for the exchange of experiences and mutual help. It is one of the 300 entities selected in the call for Social projects of the La Caixa Foundation in Catalonia 2023.

Their project, called Cuidar avui, guarir demà, seeks to improve the personal autonomy and psychosocial support of those affected. It includes multisensory stimulation therapies, music therapy, therapy with dogs, communication with gaze or help for families in vulnerable situations.

“Communication therapy is the star,” Bolzani remarks. “It is a project that we started in 2019 and it is the most requested among our partners because it really manages to change the lives of the girls and their environment. In a short time they can communicate quite effectively.”

Speak with your eyes when oral language has been lost (Luli only retains one word: “Yes”). It involves moving a mouse across the screen of a computer or tablet through the movements of the iris using a device called an eye tracker that measures the position and movement of the eyes. A team of speech therapists teaches the girls, individually, to move through a grid of symbols or pictograms.

A small, more advanced group is doing literacy: they have learned the alphabet and choose the letters to make up words. The machine transforms the pictograms or words into voice.

“This technology gives them a power that until now they did not have, to be able to express what they want, what they feel, what they need, it allows them to interact at the family level or with their classmates at school or the day center,” he emphasizes. , Bolzani.

It is a before and after in the lives of patients whose parents have always had to decide for them by interpreting their needs. The ideal for autonomy is to be able to install the device in wheelchairs. The problem is the price (computer, software and eye reader), no less than 3,500 or 4,000 euros.

“There are people who do not have access, and it does not make sense for them to learn to communicate with the association’s devices and not be able to have one at home. Our goal is for everyone to have a team, it is a very important fight for us,” Bolzani proclaims. Her daughter is passionate about cinema, she loves music and reading mystery stories. And go out into the street. Bathing, on the beach or in the pool, is a passion.

In conversation with her mother, on Thursday Luli had to struggle to find the expression “go shopping.” She got it: “My birthday is coming up and I want to go shopping with a credit card and buy a dress at the mall.”