Mrs Alba's story must be a warning to the institutions and to those who have the power to make a different path and outcome possible for new parents, but also for those affected by adrenoleukodystrophy, a terrible disease for its progression and for the devastating impact it has on the patients and families who are totally involved in it.
Alba's bumpy and painful journey, burdened by Adrenolecodystrophy, began in the late 70s, when her 11-year-old brother showed behavioral problems at school, often losing control of himself: the teachers directed him to psychological support.
Later, he was diagnosed with a suspected leukodystrophy and the family was advised to do further investigations, but no one directed the members, there was no real care, and that word remained a dead letter. Almost at the same time, after a very rapid evolution of the disease, Alba lost her brother and her little Antonio, who was 8 years old, began to show behavioral and motor problems: "he got confused, bumped into the gates, forgot the route to go to school", she recalls with pain.
Alba fears that it could be the same disease that took her brother away so she has the little boy visited by a neuropsychiatrist who diagnoses him with epilepsy, even though Antonio doesn't have any convulsions.
In the meantime, the feeling of loneliness, isolation and inadequacy grows: perhaps she is being influenced, projecting her anxiety onto her son, as she is told by many, even by the doctors themselves. Alba, during a vacation with her family of origin in Germany, nurtures the hope of being able to have Antonio visited by another specialist. She meets him and tells him about the symptoms and it is there that she is told that it is probably something really serious. After a year of wandering, Alba finally arrives at the Vecchio Policlinico in Naples. It is there that Prof. Cotrufo diagnoses little Antonio with Adrenoleukodystrophy. Alba is disoriented: she goes back to the neuropsychiatrist and tells him the diagnosis, but the specialist speaks of a diagnostic error, plays down its importance, reduces the dose of antiepileptic medication the little boy must take. Antonio, whose neurological symptoms inevitably advance, goes into a coma. Alba gets him admitted to Santobono, then goes back to look for a point of reference at the Vecchio Policlinico. She is lost: she feels that it is something too much bigger than her.
Having a diagnosis already for his brother would have meant being able to make choices based on a different awareness.
At the Vecchio Policlinico she meets a professional and before that the person who will never abandon her throughout her journey with Antonio: it is Marina Melone, director of the Interuniversity Research Center in Neuroscience, professor at the University of Campania Luigi Vanvitelli. Department of Advanced Medical and Surgical Sciences - Neurological Clinic II and Rare Diseases.
“I tried to postpone my discharge from the hospital,” she says. “I was literally terrified of being alone at home, but Professor Melone promised me that I could call her at any time for any problem, even at home, and so it was, she really did. She gave me the strength to carry on. She was always close to me and when I was really desperate she even came to my house to give me directions and support me. Antonio lived with this disease for 23 years and we lived with him.”
Alba faces everything alone, she doesn't ask anyone for help: night and day she assists Antonio, without leaving the house. Very long nights in which her son suffers, arches his back, sweats even in winter, complains and breathes with difficulty. Alba invents everything, she rocks him gently, even when Antonio is no longer a child, and sometimes she manages to bring him relief.
One day Alba sees the Odone couple on TV: they have become world experts on her Antonio's illness, they have even created a mixture of oils that would slow down its progression! Their son Lorenzo is affected by it. It is a glimmer of hope. She contacts them and thanks to them she meets another mother, Pompea, and her son, little Giovanni. She wants to meet her, talk to her in person and learn about the effects of taking the oil. So one fine day she gets in the car and sets off for Formia, to reach her.
Antonio's disease is too advanced to take the oil, but Alba has two other children! Vincenzo, the second-born, also has the genetic mutation and the disease manifests itself as adrenomyeloneuropathy, a less serious form that mainly affects the lower limbs and will lead him to be in a wheelchair. For him, the oil and diet therapy could make a difference, but Vincenzo feels that it is difficult, impossible, to accept the profound changes that have literally overwhelmed his life, his projects, his horizons, his hopes. Alba's youngest daughter, on the other hand, who could have inherited the carrier status, is not affected. She has had the genetic analysis twice: when Antonio's diagnosis arrived and when she decided to get married, with the conscious prospect of becoming a mother.
Unfortunately, Antonio is no longer with us today, but Alba never stopped talking to him, not even when everyone told her he was useless, that he was deaf and blind and couldn't hear her. Today, while she tends a rose in the garden, she offers it to her son in her thoughts, so that by sharing it, they can finally smell its scent, see its beauty and touch its delicate petals.
“I would really like,” Alba reiterates, “that things could be different for the future and for others. This disease involves the whole family and destroys everything.”
EDITORIAL TEAM
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