In Spain it is estimated that there are 60,000 people affected with some neuromuscular diseasea set of about 150 pathologies different – many of them genetic – that have in common that they affect the muscles and nervous system and cause loss of muscle strength. Among these diseases are muscular dystrophies, atrophies and others as well known in recent years as ALS.
Since November 15 was proclaimed Neuromuscular Diseases Day 14 years ago, this date has become a key moment to give voice to a highly vulnerable group and give visibility to the associative movement, a movement that currently consists of 34 entities that form ASEM, the Spanish Federation of Neuromuscular Diseases.
His president, Manuel Rego, affected by Charcot-Marie-Tooth diseasetalks to us in this interview about the situation of the group and the demands of this national day, whose motto is ‘Move with the ENM’.
It is estimated that around 60,000 people in Spain have some neuromuscular disease. The vast majority are rare, but the number of people they affect is not a minority… Why do you think they are so unknown?There are around 60,000 families affected, because, furthermore, we usually talk about families. On the one hand, because many are genetic and hereditary, in many families there is more than one affected person. And on the other hand, because when a person is affected by neuromuscular disease, the life of the entire family changes, because we need care and adapt life to the progression of the disease, which is usually progressive in nature.
And it is true that they are very unknown diseases, we are the forgotten and unknown ones, despite the fact that the number of families affected is significant. When it comes to rare diseasesApart from living with them, you have to live with ignorance in all areas of society.
There are many, more than 150, and with different causes and origins. How do ASEM combine everyone’s interests? We work, through the entities that are federated with us, as an umbrella to unify the claims we have because, although it is true that each disease carries special characteristics in each individual and affects each person in a different way, in the end the needs are in common, because the vast majority of diseases require, for example, that physiotherapy be in the portfolio of public health services so that we can stop, in some way, the deterioration that causes it, or that the Dependency Law be truly effective and provide it with the means, we need research, we need the elimination of architectural networks that prevent accessibility…In the end, there are many things that we all have in common.
ASEM has been demanding that physiotherapy be included in the portfolio of public health services for 40 years.
Most of these diseases have no specific treatment or cure. How are they usually approached?As I told you, the main tool at the moment for the vast majority of neuromuscular diseases is physiotherapy, as a method to stop the deterioration. Physiotherapy, along with speech therapy, occupational therapy, etc., what they do is slow down the deterioration a little and maintain the highest possible level of personal autonomy for as long as possible.
Luckily, there is beginning to be a lot of research, progress is being seen, and there is some disease for which there is already some treatment, and even a cure, as is the case of SMA (spinal muscular atrophy), but the cost of the few treatments that exist is very high.
In general, what is the care of people with a neuromuscular disease? Do patients have what they need?Unfortunately no, because the Federation has been working for 40 years, first 20 years as an association and then 20 years as a Federation, working and demanding that physiotherapy be included in the portfolio of public health services and that we can have more than 20 sessions. to the year they give us. To give you an idea, what they recommend is a minimum of two sessions a week, that is, about 100 a year, five times more. And the most exasperating thing is that it depends on your zip code whether you have rights or not, because there are communities, few, that cover more than those 20 hours.
It is the associations, which are part of the federation, that, in many cases, offer these services in one way or another. But, unfortunately, the entities’ resources are scarce and they usually have problems finding financing for these projects.
In recent years, considerable progress has been made in research. What do you think has been the greatest progress that has occurred?In general, I would say that gene therapy is the hope that we all cling to, because day by day it gives us small glimpses of hope. Although we are also aware that it does not go as fast as we would like and that it is a fairly long process, we can already talk about a reality in some cases. A few years ago we said that in the future there would be gene therapies and I believe that the future is here, now it needs to arrive for our diseases.
In fact, for the AME, as I mentioned before, there is already a meditation at this time. It is one of the most expensive medications there is, but in principle it cures, because if it is administered soon, the prognosis is very good, you will live, even a child will be able to walk. But for this, access has to be rapid, in the first months, hence the importance of neonatal care and early diagnosis.
They are all important, but which ones do you think should be given more focus, as they are even more unknown and are less researched?The truth is that it is impossible to choose one or a few, because they are all important, but it is true that some are dramatic because of everything they entail, such as Duchenne muscular dystrophy, but all of them without exception need research.
Gene therapy is the hope we all cling to, but we are also aware that it is not going as fast as we would like.
Yesterday there was an event in the Senate, what did they demand in it?It was an event in which our objective was to give visibility to neuromuscular diseases, and what better place than in what they say is everyone’s home, to also bring closer to the political sphere what neuromuscular diseases are and the needs that have. To do this, we have leading professionals from the world of these diseases and two people who told us their life stories and helped us focus on the real situation of neuromuscular diseases at this time.
The ‘ALS Law’ should help many of them… How has it been received in ASEM?Of course, we have welcomed it with open arms, among other things because ALS is also a neuromuscular disease, and it is true that it is a hope. Now what we have to do is insist that it be provided with a budget and that it be opened to other neuromuscular diseases that develop in a very complex way, that have a very similar complexity, although they are not as fast. Without a doubt, it is an achievement and a shame that it took so long.
A year ago, a neurologist who was an expert in these diseases did not say that she was optimistic, that she believed that in a few years she would be able to do many more treatments for many of these diseases. How do you perceive it, do you think this is the case, is there more hope than a few years ago?We want to be optimistic because, as I said, gene therapy in some cases is already a reality and broadens our horizon and hope, but we are aware that a lot of research is needed and that it is going slower than what patients with these diseases expect. We need it, that is why it is so important that funds are allocated to research and that researchers are cared for, because they are not cared for either. But well, that would be another topic, but it is true that we need to investigate it.
This year’s motto is ‘Move for NMDs’. Because?Because it is necessary that we all move together to make these diseases visible and break down the barriers because, as I say, the disease creates difficulties for you, but society creates barriers for you. If we all move together through these diseases, we will improve the quality of life of all the people who live with them. We patients are people, not numbers, and we need all the support to be able to fight our illness.
