The condemnation of seeing life in black and white: “No one understands what happens to me, they think I’m crippled”

This genetic condition, which only one in 45,000 people suffer from and is considered rare diseaseaffects the patient’s retina, specifically the cones of vision, responsible for perceiving colors. Experts often call it “extreme color blindness,” as Dr. Beatriz Fernández-Vega Sanz explains, because achromatopsia also means that people see blurred, have greater sensitivity to light (what is known as photophobia), suffer from involuntary eye movements and suffer from low visual acuity.

The disease is hereditarythe altered gene is normally transmitted from mothers to children. It is not degenerative and appears from birth. However, there is also the acquired achromatopsianot associated with genetic factors. “It is usually caused by some disease or accident, as a consequence of the interruption in the neuronal pathways between the retina and the brain,” says Dr. Fernández-Vega.

The most striking thing is its grayscale vision, but all the achromats —as those who have this ocular pathology call themselves— consulted by ABC agree that their disease goes beyond simple color blindness. It is easy to make yourself see the world in gray scale, but your genetic condition is limiting in many other aspects of your daily life. Society is not adapted to them.

Photophobia

In the case of Stefania Pesavento, since she has never known color, she does not feel that she is missing something, nor does she think that she is “chromatically crippled”. His biggest problem lies in photophobia, any light dazzles him, and for example working long days in his office causes him “incredible” migraines. She is forced to use some glasses with polarized filter constantly, an essential tool for those who suffer from this genetic mutation, because they block 90% of incoming light.

Changing jobs is also an odyssey, because you feel like you never fully understand what is happening to you. “They think that I make excuses and that the limits I impose are due to laziness or because I am not competent at work,” laments Pesavento, who affirms that on many occasions he has suffered from imposter syndrome due to the treatment he has received due to his pathology. “In high school, at university or now at work, I have never had it easy.” He has even made the decision not to put on his glasses even though he would regret it later, when the headaches come.

Luckily, since his older brother was also an achromat, at home and during his adolescence he did not have many complications. He suffered all of them for her. «The doctors in Italy told my parents that my brother was retarded“If he didn’t do any sport, he wouldn’t mistake a ball for a metal bollard and break his leg.” For her there were no limitations. He has practiced all the sports he has wanted, but that has meant discovering new dangers “the hard way.”

On one occasion, when he went out for a run, he tripped over a loose tile that, due to its condition, he was unable to detect. «I cracked a rib and I reconsidered going out to exercise for a while. We have to go with a thousand eyes, alert to our environment, because the world does not think of achromatopsia as a limiting disease,” he laments.

Braille for the color blind

With the aim of improving the quality of life of achromats, the Portuguese Miguel Neiva developed the code ColorADDa graphic system for identifying colors through geometric shapes. It is braille for color blind people, or so everyone who has had to use it claims. For example, Pedro Giralda, who after his medical journey to obtain a diagnosis for his daughter, has managed to get Irene to work with him naturally, since she was very little. “In the end allows her to have autonomyand don’t depend on anyone to choose your clothes or what pencil you should use to paint the sky or a sun,” says the father.

Developer Miguel Neiva details that he wanted to break the myth that “if nothing exists, it is because it is not necessary.” «We have tested it in several institutes in Spain and the result has been surprising. “Not only for children with achromatopsia, but to detect possible color blind people.” 90% of our communication is done through color“How is it possible that society has forgotten the color blind?” Neiva exclaims.

For Giralda’s part, he continues working with Irene with one wish in mind: «I want to see the ColorADD in the Madrid metro. “It will be the moment where I make sure that society is adapted to achromatopsia.”

Gene therapy

In 2004 the world welcomed the first man legally recognized as a ‘cyborg’. It was the achromat Neil Harbisson, who got the British administration to accept the renewal of his passport with a photo where he appeared with the antenna that is implanted in the head to ‘see’ colors. It consists of a sensor that sends signals to a chip inside your skull with which you are able to hear the red, blue or green of the world around you. It is the closest that human beings have come to achieving correct achromatopsiaor at least, that’s how it was in the early 2000s.

For a few years now, several studies have investigated the use of gene therapy to correct retinal cones. The most recent, published in 2022, managed to partially restore the color receptors of two young people who were born with achromatopsia. It allowed them to see red and blue comfortably, as happens with some of the aborigines of the island of Pingelap, “the Mecca” of patients with achromatopsia.

The research, published in the University of Oxford journal Brain, raises hopes that the therapy is successfully reactivating dormant communication connections in the brain and retina by harnessing the plastic nature of development. of the adolescent brain.

Participants in the preliminary clinical trials included Lucas de Miguela nine-year-old young man from Zaragoza, who underwent the tests from a very young age with the hope that, tomorrow, he would be able to fulfill his dream: driving a car. “At the moment I can’t, but you never know in the future,” explains De Miguel, who would love to get behind the wheel of a Porsche GTR, his favorite car.

Otherwise, he would not change anything about his life, neither his illness – which he prefers to refer to as a genetic condition – nor the 77% disability he presents. «I am a little more special than the rest, but all children are the same. “I’m used to being the way I am,” he explains when asked if he feels different from the boys in his class. Both he and Irene belong to the Acromates association, which brings together 53 people in Spain. However, they believe that in our country there could be between 969 and 1,600 cases.