On July 29, the Centro Plaza shopping center in Nueva Andalucía will host a charity parade in favor of Adán Fernández Gómez, a different three-year-old boy to the rest. Since at 18 months He will be diagnosed with Ethylmalonic Encephalopathy, a rare disease that only he suffers in Spain and about 30 people around the world, his life completely changed.
For this reason, they decided to enroll the child in nursery school, to see if “he would cheer up a bit more.” Once there, he only stayed for a week, since he caught gastroenteritis and that was where after a nine-day stay in the maternal hospital, they began to do genetic tests on the parents and the little one, and they discovered the diagnosis: a disease genetics. His parents have a mutation in the same gene, something very strange.
Those days will never go away from Sara’s memory. Overnight, her son had gone from being a child like any other to being diagnosed with a rare disease. “At first you don’t know where it comes from. We listened to the doctors, but you are not able to assimilate so much information in such a short time and on top of your young son. They are talking, but it’s not like the thing is going with you, “he recalls.
Since then, little Adam’s life changed completely and he began to follow care and treatments for his well-being and development. The symptoms you suffer from are capital frailty, chronic diarrhea, mild psychomotor retardation, maturational retardation, stature-weight retardation (At his age he does not reach nine kilos in weight and does not reach the average height of his age range).
The day-to-day life of the family revolves around a single premise and that is “that it has a Good life quality“Adam has to undergo various therapies for his development. He attends weekly motor therapy, since he is still not walking.” We are trying to get him to start taking his little steps “. He also receives a visit from an occupational therapist” so that the child is more autonomous and independent “in addition to working on fine motor skills and various aspects that are affected.
When he looks back, Sara Gómez, Adam’s mother, remembers that su pregnancy was normal, without any problem. The same thing happened when the little one was born, who was simply “a bit cryy and whiny.” It seemed that everything was going well, until the child stopped gaining weight at seven to eight months. After many tests, it was also discovered that Adam had problems with his motor development, so they began a series of therapies.
In addition to therapies for his psychomotor development, Adam has to take a series of vitamins and antibiotics to prevent the development of the disease. You also have to eat a low-protein diet, since your liver does not process toxic substances in protein well. Due to liver damage, the small Adam is waiting for a liver transplant. “Together with the treatment and the diets it would be the only way to stop the disease”, explains Sara Gómez.
Now, they are waiting for a liver transplant, which is one of the solutions so that the disease does not progress and Adam’s quality of life improves.
Parents go every six months to Hospital San Juan de Dios, in Barcelona, for their examinations and relevant tests, since it is a center specialized in rare diseases. Adán’s family got the Junta de Andalucía to refer them for free.
However, they have to face the costs of travel, such as food, travel or accommodation. A difficult situation to face for a large family. “There are five of us at home and only my partner works. I dedicate myself exclusively to taking care of Adam since with his illness he cannot go to school,” says Sara. Thanks to aid and initiatives, they are covering the expenses “and day-to-day life becomes easier.”
Despite all the obstacles she has to face, Sara claims that Adam is a happy boy. “In his childhood and his innocence he is not aware of the disease and he is happy with his brothers and his family and enjoys his therapists.” There is only one way left and that is to continue fighting for Adam.