ALS Malta Foundation
In recent months and weeks, amyotrophic lateral sclerosis (ALS) has been sprawled all over newspapers and newsfeeds. Its symptoms are cruel, but what shocks most people is the elusiveness of this degenerative disease’s cure. Here, however, Dr Ruben Cauchi explains how hope still springs eternal in laboratories all over the world.
‘How could the body of a seemingly healthy individual turn on itself like that?’ some questioned.
‘And how has science, with all its advancements and daily discoveries, not know how to cure such a terrible and terrifying disease?’ others wondered.
Well, the long and short of it is: they’re trying. And laboratories and researchers in Malta are actually at the forefront of this race against time.
“Motor neuron diseases (MNDs) is a group of disorders in which motor neurons, or the nerve cells controlling the muscles we use to move around, breathe, speak and swallow, gradually degenerate and die. The consequences are muscle weakness and paralysis, as well as impaired speaking, swallowing and breathing, but intellect, memory or the senses remain unaffected,” explains Dr Ruben Cauchi, Senior Lecturer and Head of the MND Research Laboratory at the University of Malta’s Faculty of Medicine and Surgery.
So far, what we know about amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), which are the most common MNDs in adulthood and infancy, respectively, and other MNDs, is how they affect the person, but we still haven’t understood why the neuromuscular system falters.
“While there is no cure for these fatal disorders, the research activity over the past two decades has been intense,” Dr Cauchi continues. “Our research at the University of Malta is building on my previous work at the University of Oxford, where I investigated the function of the Survival Motor Neuron (SMN) gene, which is missing in children who suffer from MNDs.”
“In recent years, in my laboratory at the University of Malta, we have discovered that SMN does not act alone but works in alliance with the Gemin family of proteins to guard against damage to the motor system. These findings have been published in a number of reputable journals, too.
“Intriguingly, a flurry of studies have exposed that SMN is damaged in a wide range of MNDs, including ALS, and this,” he explains, “particularly indicates that SMN is at the heart of a shared pathway or process that goes awry in MNDs.”
All of this is believed to revolve around ribonucleic acid (RNA), which is the bridge between DNA, our hereditary material, and proteins, which are the building blocks of cells. And the researchers’ mission for the next decade is to figure out how all this comes together.
“This is a very important step in the process,” adds Dr Cauchi. “The missing pieces can serve as drug targets, which will allow us to manipulate the pathway to our advantage with the aim of halting, or at least slowing, the decline of the motor system experienced by MND sufferers. More importantly, in view of a common thread to all MNDs, we will be able to kill two, or more, birds with one stone!”
The advancements made in MNDs may not seem major to some, but in reality they are paving the way towards finally understanding – and, hopefully, curing – these diseases. Even so, the biggest difference between now and a few years ago, is that MNDs are more known about by the people on the street, and that is giving researchers the drive to continue working on it.
“Bjorn’s dedication to the cause and his belief that research has the key to eradicate MNDs has generated a general enthusiasm in the laboratory, and that has continued fuelling our research,” says Dr Ruben.
“The partnership between the University of Malta Research Trust (RIDT) and the ALS Malta Foundation, with the aim of raising funds for MND research, is also a breath of fresh air for our research team since, in recent years, we have been struggling to fund our MND research programme.
“Unfortunately, given that MNDs are not common, they haven’t been given their due importance, but our aim now is to use these precious funds to enthuse Masters and PhD students to join our fight against one of the most catastrophic of human disorders. Furthermore, we will probably be in a better position to pursue collaborative ventures with premier European research institutes,” he concludes.
As RIDT, we are extremely excited to be a part of this awareness-building campaign and the fund-collecting effort – and all that’s been achieved so far is also thank to funds from people who continue to believe in Malta’s own researchers.
You can be part of this fascinating world of research, too, by helping many others achieve their breakthroughs in all the faculties of the University of Malta. Please click here for more information on how to donate to research of this kind through the Research Trust (RIDT).
Founder of the ALS Malta Foundation, Bjorn Formosa, gives us unique insight into what it really feels like to live with ALS and to know you’re facing certain death within the next two to three years’ time.
At 28 years old, Bjorn Formosa was diagnosed with ALS (Amyotrophic Lateral Sclerosis), but his fighting spirit drove him not to give up and, instead, he went on to set up the ALS Malta Foundation. The months before and just after the diagnosis weren’t easy, however. Here is his story, in his own words.
“It all started about a year ago with mild cramps, which I attributed to anything but ALS… I didn’t take much notice until the end of the year, when I was playing football and started feeling a strange sensation in my legs. I can’t really explain it; it just felt different and my legs felt weaker than ever before.
“Then, in February of this year, I went back to the gym and it was then that I realised that something was really wrong. I was trembling lifting the lightest of weights and couldn’t do even the most basic of exercises, which I would have performed with ease in the past.
“So I paid a visit to a cardiovascular surgeon, thinking it was a circulatory issue, but my blood flow was just fine. I then booked an appointment with the first neurologist I could find, and that was when the drama started.
“I went there, petrified, thinking I had Parkinson’s but the neuro ‘reassured’ me it wasn’t that – but the look on his face said it all. It just showed that something was terribly wrong.
“I was then referred, with urgency, to hospital, where I started a series of tests including blood tests, scans, biopsies and every other test imaginable. Unfortunately, there is no biomarker in ALS, which means that there is no blood test with which ALS can be determined – they come to that conclusion when everything else has been excluded. So, basically, if you get a dirty EMG (Electromyography), ALS bodily symptoms, and all the results from the blood tests are clean, then you probably have some sort of MND (Motor Neuron Disease).
“Well, all results were clean, but, funnily enough, I was hoping that one of them would come back positive or that they would scan something abnormal. I was hoping for anything but ALS. Unfortunately my body was ‘healthy’, so it could only mean one thing: I had lower motor neuron degeneration from the anterior horn.
“I was so scared of ALS because I had diagnosed myself months before the final result came in. Googling and matching symptoms, it had become quite clear in which direction I was heading. The first weeks were surreal, absolutely terrible; my whole world fell apart and I could not believe this was happening to me. I had fought a million battles and won, but this, an incurable disease, which I can’t do anything about…
“It was then that I realised that I had to do something to have at least a fighting chance. I started preparing myself psychologically for the upcoming diagnosis and, weeks before that, I had already set up the roadmap for the creation of the ALS Malta Foundation. I was prepared to give ALS a hard time, to put it on the map of national health care, and to boost research towards finding a cure for this most terrible of diseases.
“Paradoxically, even though in a precarious health situation, I’ve never felt stronger or happier. I’m approaching life from a completely different perspective. I do, of course, have some fantastic people that give me the added strength to move forward, and I’m determined not to give up till my last breath, and to leave a structure behind that can really cater and change the situation for people suffering with ALS in Malta.
“I’m not afraid of dying anymore, even though I know that every day is a countdown towards the inevitable. But that’s the same for everyone, I guess… After all, no one really knows their departure date.
“Now I wish I could have lived more, but maybe everything happens for a reason… And I will use my assigned time to successfully reach all of ALS Malta Foundation’s milestones and to, hopefully, help find a cure.”
The ALS Malta Foundation in collaboration with RIDT, are working on raising funds to help raise awareness, better the lives of ALS sufferers, and improve ALS/MND research at the University of Malta. Help us help them get there, by donating at http://www.alsmalta.org/donate. Alternatively, you can send an SMS to 5061 9271 to donate €11.65 or to 5061 8170 to donate €4.66. Monthly recurring donations starting from as low as €1 (per month) can also be set at http://www.alsmalta.org.
This time last year, ALS was one of the hottest topics in the world thanks to the now-infamous Ice Bucket Challenge, but what is it exactly? And how is Malta faring with regards to it? Here we chat to BJORN FORMOSA about the role of the ALS Malta Foundation within Maltese society.
It’s hard to believe that many of us had never heard of ALS before last summer. Indeed, most of us first heard about it when the Ice Bucket Challenge started trending on our Twitter feeds and Facebook timeline.
The challenge was a simple one: have a bucket of ice-cold water dumped on your head and nominate others to do so, too. They then have 24 hours to comply or forfeit the challenge, and give a charitable donation towards ALS research.
While the origins of the campaign are actually shrouded in mystery – no one can seem to pinpoint the where, who or when – it went viral, and by the end of summer 2014, there were over 2.4 million videos circulating on social media with this tag. Yet, while the ALS Ice Bucket Challenge spurred millions in donations, most of us are still not quite sure about what ALS actually is.
“ALS, which is short for Amyotrophic Lateral Sclerosis, is sometimes also referred to as the Lou Gehrig’s Disease,” explains Bjorn Formosa, the founder of the ALS Malta Foundation.
“Basically, it is a neuro-degenerative disease causing the death of the body’s motor neurons,” he continues. “This stops them sending signals to the nerves, which, in turn, will stop them from communicating with the muscles, causing them to atrophy and die. Weakness starts in the voluntary muscles of movement until it reaches the involuntary breathing muscles and leads the sufferer to death within three to four years’ time.”
This destructive disease is often passed down the generations through genes and, thus far, the only medication available extends life by two to three months at most. And with it being a rather rare disease – it is estimated that ALS affects two people per 100,000 in Europe – research is scant and treatments are not incredibly effective; even in countries where health is taken incredibly seriously, such as Malta.
“ALS is still not very well known and it is not catered for appropriately in Malta,” explains Bjorn. “At present, a patient is given a possible diagnosis of what he or she might have – ALS is very difficult to diagnose due to non present bio-markers*, which could give clear indications of the disease – and this is then followed every six months for disease progression. (Biomarkers are characteristic biological properties (or molecules) that can be detected and measured in parts of the body like the blood or tissue).
“There is, however, a considerable number of patients being diagnosed each year with this disease here in Malta, but no actual record is currently being kept of persons affected… Which says a lot about the situation of ALS patients in Malta,” he continues.
The aforementioned drug, which is the only one available on the market for ALS sufferers, is currently not even imported to the Island. Patients, in fact, often have to rely on charitable foundations for basic medical beds, wheelchairs and hospice services as social benefits are absolutely not parallel to the extreme costs of a disease that requires 24/7 care.
“But ALS sufferers need much more than that,” Bjorn goes on to explain. “Physiotherapy is an essential treatment in the various stages of ALS and only one session per month is assigned to ALS sufferers in the overcrowded and unequipped ‘neuro-gym’ at St Luke’s hospital.
“Advanced Assisted Communication (AAC) devices and eye-gaze technology, which could give a lifeline to patients in a locked-in state, are unheard of and patients are left to wait for the inevitable with few possibilities of communication.”
Indeed, the current social benefits are not enough to provide assisted ventilation systems, feeding tubes, mobility devices, and all the other assistance that’s needed, which, granted, costs a lot of money.
As an ALS sufferer himself, Bjorn knows exactly the hardships that other people who have been diagnosed with ALS go through. And it was for that reason that, this year, he set up the ALS Malta Foundation with three main aims: to raise awareness of the disease locally, to improve the quality of life of ALS sufferers, and to ameliorate ALS/MND (motor neuron disease) research at the University of Malta.
“While I set up the Foundation and I’m its original founder and chair, I try to not limit myself to just the administrative tasks,” says Bjorn. “In fact, I try to spend all the energy I can muster on the various tasks required from such an organisation, from advocacy to marketing, web-development to fund raising management, and anything else that may be needed – often with the help and support of family, helpers and great friends, of course.”
Recently, Bjorn’s brainchild hit the news when it hosted an Ice Bucket Challenge to raise funds and awareness in Malta. “It was a huge success all over the month of August and donations are continuing to pour in,” he explains.
RIDT has been working with the ALS Malta Foundation, too, particularly on the research aspect of things. And with Dr Ruben Cauchi, the Senior Lecturer and Head of the MND Research Laboratory at the University of Malta’s Faculty of Medicine and Surgery, currently researching the function of RNA (Ribonucleic acid)-binding proteins that on mutation cause a degenerative MND, Malta may prove to be a beacon of hope for ALS sufferers the world-over.
RIDT has also been instrumental in consulting and aiding with the bureaucratic, marketing and PR needs of the foundation.
“And I’m happy to reveal that the ALS Malta Foundation and RIDT are planning a series of events together with the aim of raising funds and boosting MND research on the island,” Bjorn concludes.
Needless to say, there is still a lot left to be done in this area, but the ALS Malta Foundation, thanks to funds from people just like you, is helping to pave the way for a better future for ALS Sufferers.
The ALS Malta Foundation, along with RIDT, are working on raising funds to help raise awareness, better the lives of ALS sufferers, and improve ALS/MND research at the University of Malta. Help us help them get there, by donating at http://www.alsmalta.org/donate. Alternatively, you can send an SMS to 5061 9271 to donate €11.65 or to 5061 8170 to donate €4.66. Monthly recurring donations starting from as low as €1 (per month) can also be set at www.alsmalta.org.