Global Courant
A little over two years ago, while he was serving as a senator, Esteban Bullrich told that the disease that altered his speech, among other aspects of his life, was Amyotrophic Lateral Sclerosis (ALS), the same one that had affected the writer Roberto Fontanarrosa and drummer Martín Carrizo, among others. Public figures who contributed to give visibility to a pathology that in Argentina is estimated to affect some 3,000 patients.
Giving visibility and raising awareness is one of the central objectives of World Amyotrophic Lateral Sclerosis Day, which is commemorated every June 21. Why was this day chosen? What is ALS and what are its symptoms? What are the treatments available and what is the state of the research?
On the eve of the world day, answers to those questions and testimonials from people living with ALS and their families.
What is Amyotrophic Lateral Sclerosis (ALS)?
Amyotrophic Lateral Sclerosis (ALS) is a progressive disease of the nervous system that affects neurons in the brain and spinal cord, causing loss of muscle control.
The incidence or number of people who will develop ALS each year is approximately 2 out of every 100,000 inhabitants. While the prevalence (the number of people living with ALS at the same time) is about 7 in 100,000.
It can affect adults of any age, but the majority of those diagnosed with the disease are over the age of 40, with the highest incidence between 50 and 70 years of age.
“Approximately 10% of patients with ALS have a familial form (history within their family) and the remaining 90% is sporadic (the cause is unknown). Today there is much more advanced knowledge about the genetic mutations that are associated and cause disease,” said Ricardo Reisin, Head of the Neurology Service at the British Hospital.
What are the symptoms of ALS?
Initially, ALS usually appears in the hands, feet, or extremities and then spreads to other parts of the body. As muscle weakness progresses, and eventually paralysis, the upper and lower limbs become affected, leading to difficulties speaking, eating, and breathing (due to respiratory muscle weakness), severely affecting quality of life. .
Its symptoms vary according to the neurons it affects. Among the most common are: difficulty walking or doing normal daily activities, weakness in the legs, feet or ankles, weakness or clumsiness in the hands, difficulty speaking or problems swallowing, muscle cramps and spasms in the arms, shoulders and language, cognitive and behavioral changes.
How is ALS diagnosed and treated?
The diagnosis of ALS is clinical, although the electromyographic study is also very useful. However, there is no analysis or imaging study that per se can establish it, Reisin explained.
And he specified that the drugs approved in Argentina are riluzole and edaravone, with partial benefit mediated by slowing the progression of the disease, in addition to the compound AMX0035, approved in the United States.
Why is Amyotrophic Lateral Sclerosis Day celebrated on June 21?
Every June 21, patient associations from around the world come together to raise awareness about the disease. The choice of the day responds to the fact that “June 21 is a solstice, a turning point, and every year International Alliance of ELA Associations performs a variety of activities to express their hope that this day will be another turning point in the search for the cause, treatment and cure of the disease.”
Within this framework, Argentine patients and family members decided to give their testimony to tell what it is like to live with this disease.
Living with ALS, first person stories
Gabriela and the support of the WhatsApp group
Gabriela is 41 years old, she is a teacher and a mother. It’s been five years since she was diagnosed. She no longer moves her arms or legs, and she is fed through a gastric button. To communicate, she uses a tablet.
“I am lucky to have this device, a prepaid and a family that accompanies me. However, they are the ones who fight every day against the bureaucracy of the system which adds extra concern to this disease. It is not my intention to leave a dark vision of the lives of patients with ALS, but it does tell a harsh reality, difficult to go through.”
“Luckily, I found support, information and a lot of solidarity in this group. I hope that this battle that we set out to give to make the disease visible, we will win it together,” he says in relation to a WhatsApp group created and made up of patients, family members, health professionals, in which they share feelings, information and feel accompanied and understood.
Fredy, through his daughter
Tamara raises her voice for Fredy, her father, who has been diagnosed for a year and is being treated by PAMI. He says that, as for the majority, day to day was and is very difficult. Administrative obstacles make living with the disease even more difficult.
“If there is no money to cover caregivers, nurses, supplies, professionals, everything is very difficult. Care is very precarious and the path is very arduous. Everything is done so that you get tired on the way, nothing is designed to accompany us. Although there are always professionals to stand out, the feeling is that there is no correct follow-up and many times you have to resort to private consultation”, he laments.
Paolo and the bureaucracy
Paolo, with 5 years of diagnosis, is connected to a respirator, is fed by gastric button and only moves his eyes.
His sister also points out against the bureaucracy: “We have already made four protections for different medications and home caregivers. We put together all the care he needs on our own: doctor, nurses, we rented a backup respirator. Although all the protections turned out in our favor, We should have reported non-compliance.”
“Stencils are filled out to renew everything every 6 or even 3 months. We pay and they reinstate us every 2 or 3 months, all this adds to the complications of the disease and generates a lot of impotence having to fight two fights together.”
Sergio and solidarity
Making the disease known, being able to tell about its complications and the impact on quality of life is key for patients and their families. Making cases visible helps many receive the help they need. Sergio is 49 years old and is from Bahía Blanca, he was diagnosed in August of last year.
He doesn’t talk anymore, he doesn’t walk. The wheelchair he uses was donated by a family from Córdoba, to whom he wants to thank and emphasize how important support, solidarity and containment are during this disease.
Sergio accessed a wheelchair thanks to a family from Córdoba. Photo Courtesy.
Nariana, from Salta in search of a diagnosis
Nariana is a patient from Salta, diagnosed in May 2022, who had to travel to Buenos Aires to obtain her official diagnosis.
“Unfortunately here in Salta there is still a great lack of knowledge about the disease, even among neurologists,” says Nariana, who faces complications in speaking and eating.
Anabel and the difficulties to find help
Anabel, 57, is from Armstrong, Santa Fe province. Her son Alexis says that she is currently in a wheelchair because she can’t walk and has some difficulties with her hands. “Today, one of the difficulties we have is that, being in the interior, it is very difficult to find trained personnel for daily care.”
“El Toro”, Sole and the “cruel” side of ALS
“Hernán, ‘El Toro’, is passionate about rugby and played for a long time. Also a marathon runner, he crossed the Andes.” This is how Sole, his wife, describes it before the diagnosis he obtained in 2021.
Father of two children, Juan Cruz and Juanita, who “are present all the time, helping with things we would never have thought of, like taking him to the bathroom, making him lie down on the bed or feeding him.”
As a doctor, he knew right away that something was up and was diagnosed quite early. Sole highlights Hernán’s attitude towards the disease that “despite how cruel his is day by day, he does not give up and tries to give everything.”
For her, being united is the key. “We fight to have what it takes and thus be able to cope with it. ALS is cruel for the whole family, we all live it and suffer from it, but the saddest thing is to see it stop doing the simple things of every day: working, not be able to fend for himself, or not even be able to give us a caress or tell us how much he loves us”.
“Romina can’t move, but she never stays still”
Lucas is Romina’s partner, they have been together for 26 years. She has ALS since she was 32 and she has been on a respirator for seven years, she only moves her eyes. Although they have a prepaid, they also deal with the bureaucracy of time, paperwork for the delivery of medication, delays in reimbursements, among others.
However, nothing stops ‘Chuly’ from doing what she likes: going on vacation, attending rock concerts, going to bars, the movies, walking her dog.
“Doing all these outings of course involves a lot of effort, the state of the streets and sidewalks makes mobility even more difficult. We must also take the necessary equipment, go out with the nurse (who are already friends at this point) so that she is with us that day, and endure the prying eyes of many people,” says Lucas.
“Of course there are bad days, and even some very bad ones, but life with ALS is like that. It’s very harsh and cruel in many ways. But even though she can’t move, she never sits still. She’s been through all the states of possible spirits with this illness and, despite the ups and downs, it’s been a long time since he was able to accept it and he enjoys everything that is within his reach.”
Monica was diagnosed 5 years ago, she uses a cane and needs the help of someone to walk. Photo Courtesy.
New treatments: the hope that “something will turn up”
ALS impacts everyone living with the disease and those around them, regardless of whether they are public or not. Patients and their families seek to be heard, to be seen, and they hope to improve their current living conditions and, as Sole says, they do not lose hope that “something will appear soon” and that “it will be accessible to everyone”.
Regarding the emergence of new treatments, according to Reisin: “Drugs currently under investigation in clinical trials have multiplied to prove their efficacy and safety in ALS, which today allows us to be cautiously optimistic that we are getting closer to identifying drugs more effective in fighting the disease.
At present, access to an early diagnosis that allows early initiation of pharmacological treatment, associated with a motor rehabilitation plan (with the support of speech therapy and pulmonology, if necessary) and psychological support, is the best approach to that can be accessed by those living with the disease.
“Once this first scheme has been organized, the possibility of bringing the patient closer to a clinical trial in the country or abroad is the best contribution that can be made for the patient who suffers from this dramatic disease,” he concluded.
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