ALS, a bucket of cold water

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ELA_aut-chris-randChris Rand
The Ice Bucket Challenge initiative, which started in the United States and was promoted here by the Spanish Association of Amyotrophic Lateral Sclerosis, managed to raise a total sum of €376,000 in the Spanish state through more than 12,000 donations.

Suddenly. That is how an ALS patient realises that his life has completely changed and there is no turning back. Suddenly, an ALS patient becomes a part of an unknown, hard world that involves many problems and very little social concern. Fears of rejection and deterioration fill the mind of the patient that suffers from a confusing disease from which there is no escape.

Amyotrophic lateral sclerosis is a neuromuscular degenerative disease by which motor neurons (neurons that intervene in the voluntary movement of muscles) gradually stop functioning and die, thereby causing a progressive muscular paralysis.  It means the loss of nerve fibres accompanied by hardening or scarring (sclerosis) of the lateral area of the spinal cord. Amyotrophic, on the other hand, refers to the muscle atrophy that occurs due to the inactivity of the muscles when they do not receive nerve signals. These nerve cells can be found both in the brain and in the spinal cord, but the disease does not affect neither the senses nor the intellect; thus, the patients are perfectly aware of their situation until the end. Some, seeing themselves in this living hell, try to get individual salvation, but that is precisely the force that has allowed ALS to move unstoppably forward. The term ALS was first used by French doctor Jean Martin Charcot in 1874, and from then on this disease has been universally known as ‘Charcot’s disease’. The average age of the patient is between 40 and 70, although there are younger patients, and more men than women have this disease. In Spain, it is estimated that each year 900 new cases are diagnosed, and the number of affected people remains stable at about 4,000, due to the disease’s mortality rate. There are about 350,000 people affected by this disease which kills 100,000 people a year worldwide.

But what are the symptoms of ALS? It is difficult to find an answer, since there are many symptoms that vary from one person to another, and they mimic those of other diseases. Fatigue, trembling and not being able to lift her left hand’s index finger were Cati Salom’s. Tobías Calvo, however, started to notice instability in his walk and fell repeatedly due to the lack of strength, while Joaquín Fita started to get tongue-tied when he tried to pronounce some words. Consuelo Sancho noticed tremors in her left hand’s fingers and Concha Garcés started with her voice, since she could not speak well. The cases are sporadic and can affect anyone regardless of their health, age and lifestyle, so there is no way to prevent it. However, all of these patients agree on one thing: none of them knew anything about ALS until they were diagnosed with it

ADELA, working for hope

The Spanish Association of Amyotrophic Lateral Sclerosis (ADELA or adEla) was founded in May 1990 in Madrid, with the collaboration of other countries. The branch in the Valencian region started a little later, in November 1991, thus becoming the first autonomous community ever to create one with the need to work closer to the patients. The first steps in the path of the ADELA-CV, association –which is currently an independent entity despite having kept its initials and collaborating with the original association in many aspects– were taken by Javier Ruiz, which was affected by the disease, with the aim of giving voice to a collective that is unprotected for suffering an little known condition.

According to the figures handled by ADELA-CV, in the Valencian region there are about 400 patients with ALS, and of these, 337 people are associated with this entity and 185 keep in constant contact with it. Bárbara Chiralt, a social worker from the association, admits that there are now about a hundred cases only in the province of Valencia, whereas when they started that was the total number of the whole region. «There are those who contact us and those who do not, and I do not think it is due to ignorance, but to fear or the expectation of ‘why do it if there is no cure’. Sometimes the despondency the disease entails makes some people shut themselves in their homes, live in subhuman conditions… Anything but facing what is happening and search for solutions», she claims.

This association’s motto is «Working for hope», words that translate into a constant support to all patients, thus trying to make the patients see that they are not alone, and ensuring that they receive support throughout all they are facing. «This disease is very hard from the beginning, but also throughout its evolution», explains Bárbara Chiralt.

ADELA-CV also conducts activities that try to make the patients help each other, in order to escape from the isolation caused by being affected by a rare disease; they don’t usually know others that share their problem. Another type of activities include training caregivers as well as those affected by the disease, focusing on knowing how to deal with the problems they are faced with, like communication or the nursing treatment.

ALS is a disease that causes social problems, and the greater support comes from people close to the patients, from their family. «Sometimes it is a family with resources and means, who can handle it well, but for most it is a complicated issue, with relatives who have to stop working or with patients with lacks that end up reducing their aspirations of improvement because their needs exceed those estimated », claims this social worker. That is why from the association they work so that the patients have an easier access to that aid, as well as to the elements that become necessary through the evolution of the disease, such as articulated beds, cranes or chairs. Thus, ADELA-CV has a deposit of materials that lends to all those who cannot afford them by themselves since they are not affordable products.

 

«ALS is a neuromuscular degenerative diseases that causes progressive brain paralysis»

 

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José Luis Lagardera
Bárbara Chiralt, social worker at ADELA-CV.

«Sometimes the despondency the disease entails makes some people shut themselves in their homes, live in subhuman conditions… Anything but facing what is happening and search for solutions»
(Bárbara Chiralt)

 

ela_dinsGabinet de Premsa La Fe
In Valencia, La Fe University and Polytechnic Hospital has an ALS Multidisciplinary Unit with 23 specialists and an average of 150 patients which has become a point of reference and comprehensive assistance to patients and which also promotes clinical research and science communication.

  

ALS, A CHALLENGE TO OVERCOME

Having ALS is expensive. Bárbara Chirald carried out a study that analysed the expenses a patient could afford with an average income of 900 or 1,000 euros. «If he needs to move to another house, buy a bed or look for someone to help him he would not be able to cover even half of his basic needs with what is left», she claims. Most patients want to be near their family despite the sacrifice it means for them, which experts consider a more ideal situation.

But, how does ALS affect a person? Carlos Matallanas, a 30 year old football player and journalist, was diagnosed a year and a half ago. Since last October he has a blog in El Confidencial, My battle against ALS, where he portrays the daily life of his disease. Carlos explains that «fear can grab a hold of you, and you have to be level-headed and calmly look at everything, being sure about feeling comfortable at any moment». He claims that the hardest thing is «seeing those you love suffering, even more you». For his part, Jano Galán, 37, married and father to three children, has lived with ALS for two and a half years. Jano, like Carlos, is an example of improvement and joie de vivre. He opened a website, DGeneración, with which he wants to tell what is happening, not to set an example, but to show how the disease is like, sending an encouraging message. DGeneración, in addition, is an engine to raise funds for research and awareness.

Carlos Salas was on the other side. His 40 year old wife, Ana, died of ALS. Together they travelled to Toledo, Madrid, Zaragoza and Valencia, and he admits that at first «you have hope». «My wife was fine, until one day she dragged her leg, it did not hurt, she just dragged it». That was the start of a journey of three months between traumatologists and neurologists that prescribed her medication even before getting a final diagnosis. It has been ten years, but Carlos remembers his wife’s bravery, his family’s, his daughters’ and his own. «The day my wife died I went home with my daughters, and the next day I took them to school, as if nothing had happened. Four and a half years of suffering is a lot of time to get used to the idea». The «damned disease», as Carlos calls it, took his wife, and with her, a part of his life.

In recent years, charities have started to operate with the aim of contributing to make this rare disease more visible. Undoubtedly, the most important one has been the Ice Bucket Challenge, which originated in the United States and which was promoted here by the Spanish association of amyotrophic lateral sclerosis, which managed to raise a total sum of €376,000 through more than 12,000 donations. Specifically, ADELA-CV managed to raise €9,600 to fight a disease was completely unknown for most of society due to its low prevalence and high mortality rates until recently.

the research

For now there is no treatment that has proved effective against ALS, but despite being, for now, an incurable disease, there are four main lines of research according to the Spanish Guide for the Treatment of ALS, prepared by the Department of Health: drugs, neurotrophic factors, gene therapy and stem cells. With regards to the former, no drug or new molecule has proved effective. The second have spread hope  in the preclinical stage thanks to the VEGF protein (Vascular Endothelial Growth Factor), which protects the motoneuron or motor neuron. Gene therapies aim at interfering in the course of the disease through the modification of certain genes.
Stem cells, however, have been key for the national advances, since they are the protagonists of a pioneer clinical trial developed in Andalusia. Internationally speaking, there have also been some advances. Scientists from Kyoto University (Japan) have obtained positive results with the use of induced pluripotent stem cells (iPS), which are capable of generating most of the tissues. In Washington and Massachusetts (USA) there has also been research with a treatment that employs a technique that turns off the mutated gene that causes the disease. 

In Valencia, La Fe University and Polytechnic Hospital has, since last year, an ALS Multidisciplinary Unit with 23 specialists and an average of 150 patients, which has become a point of reference in comprehensive assistance to patients with amyotrophic lateral sclerosis and which also promotes clinical research and communication. This hospital coordinates with the Unit in Castellón’s General Hospital, which also treats ALS cases. On the other hand, in the Miguel Hernández University of Elche, another research project with stem cells has that looks for treatments that can stop this disease has started. Neuroscience is very complex and although it has existed for many years, it is not as advanced as other branches of medicine.

For now, what we have to do is to come to terms with a disease that will accompany those it affects for the rest of their lives, and with which they must consider aspiring to a good life quality. Currently we do not have enough tools to win this fight.

 

 

«In recent years, charities have started to operate with the aim of contributing to make this rare disease more visible. Undoubtedly, the most important one has been the Ice Bucket Challenge»

 


 

 

 

 

«What we have to do is to come to terms with a disease that will accompany those it affects for the rest of their lives, and with which they must consider aspiring to a good life quality»

 

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José Luis Lagardera
Every treatment is different, but in all of them we work with physical therapists, speech therapists, neumologists, social workers and psychologists, so that every one of them evaluates the patients. In the picture, Juan Francisco Vázquez and Teresa Sevilla, members of the ALS Multidisciplinary Unit of Valencia’s La Fe Hospital.

Interview with Juan Francisco Vázquez, member of La Fe Hospital ALS Multidisciplinary Unit in Valencia

Are there any other units similar to La Fe’s?
I imagine that in every autonomous communities there is at least one. In Madrid there are five; In Catalonia, two that we know of. We are only in contact with the most important ones. In the Valencia region we have the one in La Fe Hospital and another one in Castellón.

How many people go to your unit?

We monitor an average of 150 patients a year. 50 of these are new, due to the high mortality rates of the disease.

How do you monitor them?

Normally, we visit them every three months, but monitoring is individualised depending on the patients, since it is a disease that evolves quickly and that has different stages. When it accelerates, we tend to make evaluations more often, especially if there is no communication, every month or every fifteen days.

Why is this disease so complex?

All neurodegenerative diseases are complex, and the causes and treatments of ALS are unknown. The particularity of ALS is that its evolution is much worse than others. The patients evolve and die much more quickly, and this fact gives us doctors less room for action. The survival average once ALS is diagnosed is three years, and while there are drugs that can lengthen life a little, it is a complex disease due to its rapid evolution. It is very difficult because there are still many things about the disease’s pathophysiology that we do not know.

What are the most frequent symptoms in an ALS patient?

They vary a lot depending on the region where it starts. ALS is a disease that causes a progressive muscle weakness that can begin in the legs, arms or face. Some may start with tripping or falling, which is the most frequent symptom; others with a clumsiness in their hands or a difficulty to manipulate objects; also with a difficulty to pronounce words or to swallow if it starts in the face; and a small percentage or the patients can start with breathing problems.

How is the diagnosis made?

Actually, the diagnosis is made by eliminating other causes. There is no marker that can assure us it is this disease. First we need a period of at least 6 months in which there is a quick evolution, and once a loss of inferior motoneurons has been confirmed with an electromyogram, the diagnosis is made. There is no test that can confirm that that is the disease, and that is one of the fields being researched.

Once the diagnosis is made, what do you do?

The first thing to do is to fully check all of the patient’s vital functions, in order to identify the starting point. Afterwards, we establish a personalised plan for every patient taking into account their age and cognitive condition. Every treatment is different, but in all of them we work with physical therapists, speech therapists, neumologists, social workers, psychologists… so that every one of them evaluate the patients.

What progress is there in ALS research?

We work on the study of the genetic basis of the disease, making a genetic diagnosis to every patient who wants it, to see if the origin lies in some mutation. We are trying to genotype the entire population of the province of Valencia to know what the situation is like. We are also doing research with biomarkers, especially of resonance imaging, to be able to provide this kind of tests. And we also have two lines of research regarding treatment and functional aids, such as the development of an application for Google Glass, so that the patients can use them to communicate when they can no longer speak due to the evolution of the disease. With the Polytechnic University of Valencia we are also working on a robotic arm to help with other neurological diseases similar to ALS. Globally, we are working on genetic studies, and there are also many clinical trials underway that are focused on stem cells, but without many results.

Do you think this disease will decrease in time?

In the long term, certainly, because the history of medicine has advanced and continues to do so, but we will see how long it takes for that to happen. Right now we need to learn about many aspects of the disease’s physiognomy. As long as we do not find them, it will be difficult to develop a treatment that improves or stops the disease. However, it could happen any time.

Among ALS patients we tend to hear the sentence «Expect the best and prepare for the worst». What is the best for an ALS patient?

The best is that we get a wrong diagnosis. Sometimes it happens. The second best is that, for some unknown reason, the disease stops. This can happen in very exceptional cases. When you diagnose this disease, the outlook that opens is terrible, but it is true that there is always room for hope. The disease causes death in five years from the first symptoms in 80% of the patients, but there is 20% who goes on living for more than five years, and 10% more than ten.

What advice would you give to patients and relatives?

All ALS patients should have their own monitoring in a unit to improve their quality of life. We should aspire to be able to help the entire population of the Valencian region. I would also recommend that, as we have said, they prepare for the worst and expect the best. They have to be mentally prepared for what may happen, since they have to make many decisions through the stages of the disease. They should not focus on the whole mountain, but instead go step to step, facing every stone in their way.

J. L. L.

  

José Luis Lagardera, Andrea Pastor and Miriam Salvador. Students of Journalism at the University of Valencia.
© Mètode 2015.

 

 

© Mètode 2015