Javiera and her son’s illness: “It’s the 28th case in the world”

When she was 19 years and six months pregnant, Javiera Soto (35) gave birth to Joaquín, who weighed barely 850 grams and had to be admitted to intensive care . After six months, Joaquín regained his strength and became a energy hurricane . He loved running, playing and above all shouting “Mama, Mama!! “.

Javiera always wanted to study medicine, but the unexpected arrival of Joaquín changed the course of her life. When her son started to grow up, she thought back to those dreams that were part of her but had to put it aside. “Well, when he’s three, I’ll put him in the garden and enroll in college,” he thought. But life takes many turns and by coincidence At the age of three, Joaquín started with a lameness in his right leg. .

Joaquín was an exuberant child. There were a number of possibilities that could explain why he was limping; a blow, a fall, a sprained foot. But mom’s instinct rarely fails. “Always I knew there was something weird. I felt it immediately, ”recalls Javiera turning off the machine which tells him that Joaquín has finished eating through his probe.

The first traumatologist they consulted found no bones or muscles involved , so he referred them to the neurologist. Javiera – who ignored her without saying a word – still cannot forget the episode that will mark her life forever. “How many weeks have you been born? asked the neurologist as if it were a police questioning. “28″, she replied a little uncomfortably. “They have the answer to everything from day one. He has one cerebral palsy sequelae of prematurity “, he announced in a cold tone. Javiera felt the news as a “point-blank shot that pierced his soul”. He felt like he was gasping for air as he sank back into the chair and received a piece of paper. “Go to this place. There, they are specialists in this type of children”, declared the doctor. On the sheet appeared: “Patient derived from Teletón” .

The next day, Javiera stood in front of the Teletón building. She held her son’s hand tightly as she tried to gather the courage to walk through the door . “All Chileans know Teletón. We see it on TV, sometimes we donate, but no one is ready to walk through the door as a patient,” says Javiera. And when he gathered his courage and finally entered, I did not understand. There were children without arms or legs, there were others who needed help breathing and eating. Her son, however, ran – a little lame – down the halls. What were they doing there?

He knocked on the door that said “patient admissions.” “Hello, I’m coming because yesterday they evaluated me badly. they were wrong, I need you to help me,” he said as soon as they opened the door. Although the neurologist confirmed the diagnosis, his vocation as a doctor – which prevented her from studying – and mom’s instinct, made her 100% sure it was the wrong one.

“The problem with not having a diagnosis is the uncertainty; nobody understood why Joaquín was decompensated or how to avoid it. The monster’s attacks came without warning and put his life in danger.

He monster – as Javiera calls the rare disease his son suffers from – he attacked quickly. He was aggressive and cruel. At three months, lameness appeared in the other leg. At six months, he could no longer walk. After a year, Joaquín was already fed by a tube and had stopped talking. “I lost a son and another was born. I had to cry to let him go and kiss and receive the new Joaquín who would make me just as happy”.

That year, Javiera went to see – literally – every neurologist in the country. All agreed it was cerebral palsy, except one. “It’s a degenerative disease. Don’t worry, we’ll find it.” , he told him. Although they hospitalized Joaquín and managed to get the monster stopped advancing for a year, some time later he suffered a very severe decompensation which led him to be in a coma for three months. They needed a brain stimulator they couldn’t afford, so Javiera and Ignacio, her husband, went on public television asking for financial help.

They managed to raise the funds and the operation – which lasted 13 hours and was the first time it had been carried out in Chile – was a complete success. But it was far from being the only and last crisis. The problem with not having a diagnosis is uncertainty; nobody understood why Joaquín was decompensated or how to avoid it. The attacks of monster They arrived without warning and each time put his life in danger. “We have to get out. Someone has to know what he has,” Javiera told Ignacio. With five years of misdiagnoses behind them, Joaquín’s parents decided to try their luck abroad.

Javiera, Ignacio and Joaquín spent two months in a hospital in the United States, lived together in a shelter for families in search of health and underwent endless medical examinations. Back in Chile, they were still waiting for the response of the last tests that tried to identify the disease.

The subject of the email from the United States read, “We believe you will be very pleased to know that there is a diagnosis for your son.” At that precise moment, Javiera celebrated. “I didn’t care if they gave me the most terrible diagnosis in the world. I needed to know what was going on. When Joaquín was three years old, my life shattered, how could there not have been an answer to that? I needed to name the monster that attacked my son when he was three years old and took him away.”

The disease is called microdeletion of chromosome 19q13.11. There are only 28 cases in the world and Joaquín is one of them . Experts define it as a genetic accident. Among its myriad symptoms is progressive generalized dystonia, a disorder characterized by involuntary muscle contractions that cause muscle stiffness throughout the body. Although the disease had no cure or treatment, knowing the name was all Javiera needed. “Okay, there you are, I found you. It has nothing to do with illness, but it has a lot to do with life”, he thought when he already had the answer he had been looking for for so long, “You have to know how to reconcile and live like the great livers that we are. Enough regrets and complaints, every day is a new opportunity. Come on”.

No sooner said than done. For her, there are no obstacles preventing her from enjoying the day. With Joaquín at his back, Javiera traveled through Pucón, the Cajón del Maipo and the hills of Santiago. They took advantage of the snow and the sea. They were even shot down from a paraglider. “My son is not an angel or someone special. I have a son named Joaquín and he is as special as any child in the world.” she says bluntly, “It didn’t touch me because I’m brave or because I’m a great mom. It touched me because I am one more person in this life and because anyone can touch it”.

Although Javiera is very sociable and talkative, when it comes to facing difficult times, she prefers to keep them to herself and that no one interferes too much. Writing became a way to let go of anything that had content. “I had so much pain spared, so much grief and frustration, so much to cry out to life, that I started writing. To let go little by little”.

He started sharing some of his experiences and thoughts on Instagram, forming a community of support and containment. It was his own supporters who suggested the idea of ​​launching a book. And since nothing is impossible for her, she did it. He started writing it in a pediatric intensive care unit and finished it there. In “Never Give Up”, Javiera releases her anxieties, her fears, her sorrows and her joys. “It was a very difficult book to write. Very emotionally intense. I had to remember moments of anguish and also visit those memories where Joaco was healthy. It’s super sad because it’s miles from where it is today. I had a perfectly healthy son who yelled at me all day, mum, mum!!, and today it’s absolute silence”.

Today, Javiera leads a quiet life away from the city, the clinic and therapies. “We decided to go and live in peace. Why would we want to keep doing so much therapy if they were constantly telling us that there is nothing more to do with our son and that he is going to die? We went to the countryside, we built a suitable house for Joaquín with a giant window so that every morning he would wake up seeing the light of the sun,” explains Javiera, “And even though I’m going to die feeling it was unfair, I understood that it was part of life. I am convinced that Joaquín is deeply happy. And with that, I’m at peace.”

*The book is available at https://amigosdejoaquin.cl/public/