With just three months to live, baby Helena, now one year old, was diagnosed with Spinal Muscular Atrophy (SMA), a rare, genetic and degenerative disease that affects 1 in every 10,000 births. SMA can appear at any age, although type 1 is the most frequent, with signs and symptoms that begin between one and six months of life.
It affects nerve cells in the spinal cord responsible for controlling muscles, as well as other cells throughout the human body. This progressively impacts basic vital functions such as walking, swallowing and breathing.
The discovery happened after the baby had a consultation with a neurologist for another reason, says the mother, agronomist Alessandra Vendrameto Nogueira, 37 years old. “The specialist asked for tests. But, while we waited for the result, she presented hypotonia [diminuição do tônus muscular] and loss of leg movement. With that, the doctor ordered a test called electroneuromyography [exame neurofisiológico]which raised suspicion.”
Alessandra Vendrameto Nogueira and her daughter Helena. Baby was diagnosed with AME – Personal Archive/Reproduction
But it was the Cheek Genetic Test [exame complementar aos exames básicos de triagem neonatal] who confirmed Helena’s diagnosis: she has type 1, the most serious. “The longer it takes, the more affected the child is. But, after three months, we managed to diagnose her and, with that, intervene with medication so that the disease does not progress any further. Still she compromised her legs and respiratory part. Nowadays she is fine, but she had a certain difficulty, a discomfort to breathe”, said the child’s mother.
Child neurologist Flávia Nardes explains that AME is a progressive, rapid disease that leads to loss of movement in the arms and legs, as well as the loss of the ability to breathe and swallow over time. “The earlier it starts, the faster and more severe these losses of function will be,” said the doctor, who is a researcher in the Neuromuscular Diseases Group at the Martagão Gesteira Institute of Child Care and Pediatrics, a research unit at the Federal University of Rio de Janeiro. (IPPMG/UFRJ).
Currently, Helena performs therapies for the treatment of AME. “Today she leads an almost normal life of a child. She does respiratory physiotherapy from Monday to Saturday, speech therapy three times a week and occupational therapy twice a week and she will also start hydrotherapy”, details Alessandra. The child still follows up with the neuropediatrician and nutritionist. “She is gaining weight and growing as expected for her age”, she celebrates.
SMA is treated with specific medications, such as, for example, nusinersen, risdiplam, onasemnogen abeparvoveque, general medications, such as vitamins, supplements, salbutamol, and rehabilitation: motor, respiratory and speech therapy, as well as ventilatory and nutritional support.
Challenges
The search A portrait of AME in Brazil, profiled patients with Spinal Muscular Atrophy and their caregivers, showing the challenges faced by this community. The 144 respondents shared their experience from the first symptoms to the diagnosis and living with the disease.
The survey was carried out at the end of 2022 by Editora Abril with the support of pharmaceutical company Roche and the National Institute of Spinal Muscular Atrophy (Iname). The lack of accessibility in public places and leisure is one of the major barriers in the daily lives of people with SMA: 97% answered that they had already had to stop going to a place due to lack of accessibility, whether due to poor condition of sidewalks, lack of elevators, very narrow doors or lack of adequate transport, whether private or public.
