MND and me

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As part of our coverage of the recent Women In Science, Maths and Engineering Week co-ordinated by DUGES (you can read Dylan Lynch’s article on it here), we interviewed some high profile women in a selection of these areas to learn about their work and experiences.

As a current student of neuroscience, I was both interested and nervous when presented with the chance to speak with a woman who has won numerous awards for research of Motor Neuron Disease (MND), or Amyotrophic Lateral Sclerosis (ALS). As well as holding the post of Professor of Neurology at Trinity, Orla Hardiman has dedicated her career to studying this disease, researching its cause, its effects on the lives of patients and how it might be treated.

Remember last summer when it was completely normal to up-end a bucket of ice over your head? The “ice bucket challenge” was an unforgettable experience for some, especially if your friends made sure to help you remember by uploading a video of it to Facebook! But it’s also important to remember the reasons behind the challenge and the good it achieved. To begin with, you would have donated two euro to the Irish Motor Neuron Disease Association, and after you had dried off and had a hot shower, you would probably have researched a bit about motor neuron disease. MND is a neurodegenerative disease in which motor neurons, the neurons used to consciously control muscles, begin to die. Patients experience symptoms including muscle weakness and spasticity, difficulty speaking, swallowing and breathing. The disease has a high mortality rate, with most patients dying within 5 years of diagnosis. Study of this disease is extremely important and not easy, so my first question for Prof. Hardiman was how did her extensive, award-winning research in the field of MND begin.

Trained in neurology in Ireland, Hardiman then undertook a residency and fellowship in America, where she worked with Dr. Robert H. Brown, who was part of a team that discovered that mutation in the SOD1 gene is linked to the inherited form of MND. She then returned to Ireland and, while running a research lab in UCD, was also doing clinical work in Beaumont Hospital, where she gained more experience with MND patients. She explains: “The services weren’t very good for those people at the time… It was a bit like diagnose, adiós.”

Seeing this, she decided to do what she could to improve these services. Beginning by setting up a register for motor neuron disease patients, she then moved to Beaumont full time in 1996, where she was appointed Consultant Neurologist. She worked to reform the neuroscience clinic there, and demonstrated that those who attended the clinic had a better outcome than those who didn’t. Not only does she continue to work in the clinic as Consultant Neurologist but she is also the first fully-fledged Professor of Neurology in Ireland, and leads a research team of 30 in Trinity College, who work to understand the biology of the disease and how it could be treated.

Speaking to Professor Hardiman, it’s clear that she is extremely passionate about helping and improving services for those with ALS, and other neurodegenerative diseases. A large part of her work involves working with patients whose quality of life is deteriorating as a result of the disease. Speaking about the emotional challenges involved, she said; “Of course it’s upsetting, we’re working on some work around the idea of moral distress, when people [ALS patients and their families] make decisions that I think are wrong and I have to tell people that what they want is probably not in their interest, that creates a conflict and a difficulty as a clinician, and trying to understand that and work through that and trying to make sure that the decisions that we make are the right decisions in the right context in the right people in the right time is really very important, so that’s a big learning thing for me”.

Now that the fuss around the ice bucket challenge has quietened down, I ask Prof. Hardiman about the lasting effects of the phenomenon. She describes the Irish population as very generous, with €1.6 million was collected in Ireland, compared to €7 million in the UK, which is approximately 10 times larger. It was, as she accurately describes it, “pretty good work!” IMNDA deals with care and management of patients, and it is to them that much of the donations will go. They have also made a commitment to donate at least 25% of what was raised to Prof. Hardiman’s team, which is currently considering which projects to use the money towards. It is likely that the money might go towards collecting detailed information about disease risk and matching this risk with genetics, as this is not fully funded yet.

However, although this money is extremely important and beneficial, the disease is far from cured, and I was interested to know did many people show an interest in the research and treatment of the disease outside of the challenge itself. She noted that “there was a bit of a disconnect over time” and described how a young family member was telling her about being challenged, and when Prof. Hardiman asked why they did it, they said they weren’t very sure and did not know MND was the disease that she worked on. “There still has been a lot of publicity around the disease as well and that’s really good because it’s a horrible disease,” she says. “The downside to that is that people may think that we have enough money now for our research and that’s not really true. If you compare, for example, the money that goes into neurodegeneration or MND in particular internationally it’s a fraction of what goes into cancer [research], and neurodegeneration is an area that’s growing, it’s an age-related disease, so you could argue that we should be putting at least as much into neurodegeneration as we’re putting into cancer research and we’re not, so the ice bucket is just a drop in the ocean compared to the sorts of money that we really need to sort this out once and for all”.

So while summer of 2014 is over and the ice bucket challenge seems like a thing of the past, the real challenge would be to secure future funding, because although Prof. Hardiman and her colleagues are driving research in the direction of a better prognosis for patients, the necessary research, treatment and patient care still requires a lot of money. She describes a new potential treatment which is showing multiple different beneficial results in the mouse model of MND, but it will cost €4-5 million to bring to human trials. If we could all donate €2 every summer research, and drug development could more rapidly proceed, making a life changing difference to patients and their families would not seem so far off.