Miguel has been living with progressive muscular atrophy for 6 years and has lost part of his body movements; The family wants to give visibility to the disease
It all started with a big toe discomfort six years ago. Then the toe stopped responding. They tried treatment with an orthopedist, but it didn’t work. In the search for a medical answer, after “exhausting” the diagnostic possibilities, Miguel Neto da Silva discovered that he is one of the few people affected by progressive muscular atrophy, a rare diagnosis that represents 5% of cases of motor neuron disease, a clinical variant of amyotrophic lateral sclerosis, known as ALS. Now, at 59, he has lost the use of his legs and the disease has begun to affect his upper limbs, also weakening his breathing.
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The disease has no cure and causes irreversible motor paralysis. “The body will degenerate and this will cause the patients themselves to give up. This is not the case with Miguel because he wants to live,” says Sandra Domingues, Miguel’s wife. With Matheus, the couple’s son, they live in a humble house in Itanhaém, on the coast of São Paulo. Together, they have created a kitten in line to adapt the house to Miguel’s needs, since they did not have the financial means to support the expenses necessary to prolong the longevity of the father of the family.
The family’s priority is to get a BiPAP, a device that works like a mechanical ventilator. They tried the device through health insurance, but to no avail. They are also taking urgent legal action with the government, but due to the bureaucratic process, they are still waiting. And as spasms in Miguel’s neck and throat begin to block his breathing, they have decided to try to get help online, as they need the device “by yesterday.”
“Are we running against the disease? Yes, we are running against the disease and we know that, in most cases, it will defeat us. But it does not beat us in the sense of life. As long as we have life, we will fight,” added Sandra.
A former oil rig supervisor and dance and soccer enthusiast, after his diagnosis transformed his life, Miguel began sharing his routine on social media (@miguel_e.la), in an attempt to raise awareness of the existence of this situation.
Rare case
To the EarthNeurologist and neurophysiologist Ana Marina Dutra, who has been following Miguel’s case for about three years, explained motor neuron diseases – an ‘umbrella’ that includes different clinical variants such as progressive muscular atrophy and ALS –, characterized by the progressive degeneration of the upper and lower motor neurons.
“In epidemiological terms, motor neuron disease has an incidence of 1 to 10 cases per 100,000 people per year. It is therefore considered a rare disease.The form of progressive muscular atrophy, as in Miguel’s case, accounts for approximately 5% of cases of motor neuron disease.”, explained the specialist, who confirmed that there is still a lot to know about diseases of this type.
“Today we can only diagnose it when the entire process of neuronal death has long been established. It is estimated that the degeneration of neurons begins about one to two years before the first symptoms appear. Therefore, discovering the origin of this process is a truly challenging task for the scientific community worldwide,” he added.
In this quest to learn more about this rare disease, another doctor who also treated Miguel is at a research center in Liège, Belgium. There, he is studying the clinical variant of motor neuron disease called spinal muscular atrophy (SMA), which occurs in children.
Regarding Miguel’s case, Dr. Ana Marina stressed the fact that you always adopt a positive and confident attitude towards the clinical situation. “And, therefore, I believe that it has a slower evolution than that observed in other patients. As a doctor, I can never say that there is nothing to be done. We can always improve something in the lives and care of these patients,” he stressed.
The disease, although it is still little talked about, has gained visibility thanks to the case of the English physicist Stephen Hawking, whose story was told in the film The Theory of Everythinglaunched in 2014. According to data from the Unified Health System (SUS), in cases of amyotrophic lateral sclerosis, death occurs between three and five years after diagnosis, and approximately 25% of patients survive for another five years after diagnosis. In the case of Miguel, who is even rarer in the group of clinical variants, he has been suffering from the disease for six years.
Looking for help
The kitten in line Miguel’s ELA: Help Us It was inaugurated last Monday, the 9th, and aims to raise R$ 30,000. Up until the publication of this article, through the dissemination of its story on the Internet, more than R$ 13,000 had already been raised.
With the amount, in addition to the BiPAP, the family says they need to structure “a hospital room” for Miguel. “We need a renewal of the electrical connections for the use of the devices and an automated bed, with elevation, since it must be turned bilaterally for 2-3 hours to avoid injuries on the body and ventilate the back to avoid lung disease. We also need to adapt the bathroom with space for a shower chair, toilet, shower and sink so you can brush your teeth and shave, which helps your self-esteem.”
The kitten’s text (which can be accessed through this link) also explains that the family will still have to pay for transportation for medical care that is not provided in the city where they live, the cost of necessary medicines in addition to those already available through the SUS, hygiene items such as diapers and much more.
Despite all these difficulties, EarthMiguel also said that if he receives more than he needs, he intends to donate to initiatives that help patients with conditions similar to his.
Source: Terra
Ben Stock is a lifestyle journalist and author at Gossipify. He writes about topics such as health, wellness, travel, food and home decor. He provides practical advice and inspiration to improve well-being, keeps readers up to date with latest lifestyle news and trends, known for his engaging writing style, in-depth analysis and unique perspectives.
