Kaila and Noa: When the system decides who lives and who dies

Kaila Marcos González is four years old and is the second daughter of Belén and Roberto. Like her older sister, Xenia, Kaila was born healthy and her initial development was like any other baby. «He sat when he should, began to stand up in his time, blushed and said his first words without any problem. However, after two years, we began to notice that his motor skills stagnant and did not progress. His speech also stopped; He stopped learning new words and had a hard time formulating them. In addition, we observed that it began to walk unstable, dragging a little right foot and with a more dilated pupil than the other, ”Belén tells us. All these alarming signals led Roberto and Belén to consult the pediatrician.

During the first consultation, the professional explained that it was common to observe variations in child development. However, after weeks without progress and with recoil signs, the family consulted again. This time they were referred to a neuropediatrician, who detected that Kaila’s head was something smaller than normal, which lit the alarms. He ordered exhaustive evidence, including blood tests, urine and magnetic resonance. Given the obvious deterioration of the girl, he asked for an urgent brain scanner to rule out a tumor.

Brain damage

The initial scanner showed signs of brain damage, but without tumors. Even so, the results were not conclusive, and more detailed magnetic resonance was necessary. «I thought, at least, it wasn’t cancer. Today, knowing the diagnosis, I would like it to be, because Kaila would have had an opportunity to fight, ”says Belén. In the Hospital of Oviedo, a resonance confirmed that Kaila suffered from Leukodystrophic. Subsequent genetic analyzes determined that the mutations were in the Arsa gene, inherited from both parents, who, although bearers, had not developed the disease.

Leukodystrophy is not just a genetic disease; It is a sentence that condemns children like Kaila to a progressive and ruthless deterioration. This weakening pathology attacks myelin, the essential protective layer of neurons, interrupting crucial communications between the brain and other parts of the body. As the disease progresses, affected children suffer a devastating loss of motor skills and speech, as well as a general deterioration that deeply wears the quality of life of both patients and their families.

Without timely treatment, every day you can mark a regression in the skills that these children desperately fight to maintain, a process that leaves deep emotional scars in families.

With an unwavering determination, the parents involved in the European Association have financed research on leukodystrophies during the last 24 years, investing more than 50 million euros. This sustained effort has allowed developing gene therapy treatments, specifically for adrenoleukodystrophic and metacromatic leukodystrophy, which are now approved and available. However, a painful and frustrating paradox emerges: despite having potentially healing treatments, we continue to face the death of children affected by these diseases every year. How is it possible that, having the tools to cure, let’s fail when applying them effectively? The explanation lies in the critical need for an early diagnosis.

Gene, although safe and effective, requires being administered in the earliest stages of the disease to be truly effective. For adrenoleukodystrophy, treatment can be initiated after the appearance of some symptoms, while for metacromatic leukodystrophic, the intervention must be even more early, before the symptoms are manifested. This need underlines the urgency of including these diseases in neonatal screening programs, which could radically transform the future of these children.

«There is no word that defines losing a child. There are terms like ‘orphan’ for the son who loses a father, or ‘widower’ for those who lose his wife, but there is no word that captures the pain of losing a daughter; He is a taboo, ”Rebeca Cebrián reveals, after the death of his daughter Noa for Leukodystrophic on January 11. Roberto Cruz and Rebeca describe their daughter as an incredible and cheerful girl who loved being with her family. They know that their daughter would have had an opportunity to survive the disease if leukodystrophic had been included in neonatal screening programs. «When they give you the diagnosis it is like receiving a death sentence. At that moment it was when our daughter really died. From there, we had to be reborn with the new NOA, to meet her again, and get to know ourselves and all others, as if we were born again, forced to leave the past behind to focus on the present, ”he confesses Roberto, Noa’s father.

Taboo mortality

The reality of infant mortality is a taboo issue in today’s society, relegating in most cases families that have children with palliative treatment of social marginalization. It is uncomfortable and violent for a large part of society to face the truth that children die and many times prefer not to look in order to deny the existence of this reality.

«He used to take Noa to the park every afternoon so he was not always at home. When his illness began, we stopped going, but we resumed the visits in spring. Although Noa could no longer play as before, we sat together in the sand. One day, I approached two moms with which I usually chatted. Noa wore a nasogastric probe and seeing it, its expressions changed. I briefly explained what was happening, but when I turned to adjust Noa in the cart, they disappeared. That day I understood that, beyond family support and intimate friends, people outside that nearby circle can be really harsh ».

In the difficult trip facing children’s families with rare diseases such as leukodystrophic, bureaucracy becomes an overwhelmed and little agile enemy, unable to respond quickly that the severity of these demands demands. Obtaining authorizations for specialized treatments is a Calvary; Each form and each request seems to fall into an endless paperwork. Families must overcome a maze of administrative procedures, often facing multiple instances and suffering the lack of coordination between them. In addition, the lack of preparation and understanding of the medical system further aggravates the situation.

The scarcity of specialists trained in rare diseases and insufficient infrastructure to handle complex cases reveal a system that is not only unbelieved, but is also unable to adapt to the urgent needs of these patients and their families. This lack of preparation becomes an additional obstacle to patient families, who already carry the dramatic reality of seeing their children fight for their lives.