If you don't know why Patrick is an incurable optimist, read more about his story here.
Patrick, an artist and MND sufferer, is on a quest to create 100 portraits of fellow patients before he loses the ability to paint forever. Here is a brief glimpse into his life, an entry posted on his blog that describes his participation in a study to identify a blood-based biomarker of his disease.
Research into MND is important. Very important. Clearly this is a horrible disease that wrecks lives. It kills people before their time, slowly, cruelly, relentlessly. So on an abstract level, the importance of research is obvious. If we could understand how MND works, then we could devise a treatment or even a cure. This would save thousands of lives every year. But this importance is abstract, you can understand it on an intellectual level, but can you feel it coursing through your veins, in your soul? There is one group of people for whom the importance of research is visceral, a basic, urgent, desperate need – like the need to breathe.
These are the MND sufferers and their families, the people that live with MND on a daily basis. But why is it so important to them? Even if a discovery was made today, that was to lead to a cure, these things take years, and MND moves very fast – any discovery made today will probably be too late for them, and too late for me. So why do many sufferers spend so much of the last few months and years they have left, raising money to power this research? It is like the landowner who plants a tree, knowing he will not live long enough to walk beneath it’s boughs. We need to know that MND will be stopped, that our children’s generation will not lose five thousand people a year to the dread disease that took their father, brother, or friend.
But these are exciting times. We have some good people on our side. Some of them, like Dr Emily Goodall have lost loved ones to MND, and this drives their research, fired by love, loss and the determination that comes with grief. But most of them do not have a personal connection to MND, yet they are united by a desire, a zeal that goes beyond doing their job well. If you look into their eyes, as I have done, you will see passion in them – passion for the prize of stopping MND and passion for the chase. This is not a stagnant field, MND research is going at a breakneck pace. In the UK we have some of the best MND scientists in the world, people like Dr Martin Turner and Dr Ammar Al-Chalabi, both of whom have recently made important discoveries, which have excited me and inspired me to write this blog. Ammar, working with an international team, discovered a gene in chromosome 9 that is involved in sporadic MND. This is big news, a milestone, and may well turn out to be a big leap forward on the road to that glittering prize. And Martin’s discovery? Well, I shall tell you about that in a minute, because I was involved with that one.
It is entirely normal for patients with MND to speculate about their disease, about what caused it and why – and I am no different. In my opinion this is part of the process of taking control of the disease – not letting it control you, and is perfectly healthy. Historically the only contact a patient would have had with a neurological specialist would have been fifteen minutes with his doctor every three months. Many patients felt alienated and resentful towards the scientists involved in MND research. There was not much understanding of what they are doing or feeling of any common ground. The MND association realised this and started making moves to get patients involved in research, to help bridge the patient/scientist gap. By the time I was diagnosed, this process was in full swing, and I answered a little advert in my local branch newsletter asking for volunteers for a project in Oxford looking for a MND biomarker. The person running the project was called Dr Martin Turner.
There is currently no test for MND. Any diagnosis is made clinically, meaning that a neurologist will observe your symptoms as they progress and then test for and exclude any other disease that could produce a similar effect. A biomarker is a test for MND, it could be a blood test or a brain scan, or a number of other things. A test would speed up the diagnosis process and make it more certain, but it would also have another, very important use. Because there is no test for MND, there is no easy way of testing new MND drugs quickly and cheaply. The only way at present is to give the drug to 100 patients, give a placebo to another 100, wait 18 months and then count how many are dead in each group. This process is slow, and as you can imagine, very expensive, and limits how many new treatments can be tested. If we had a biomarker then new drugs could be tested on small groups of people in a fraction of the time, and at a fraction of the cost. This would speed up the pace of research enormously. An MND biomarker is a prize of incredible value – priceless really.
I have been going to Oxford every six months now for two years. I spend a day there each time, having cognitive tests, MRI scans, blood tests and a lumber puncture. And I get to talk to Martin Turner. Martin is kind, and generous with his time, a lovely man. I am very lucky, through talking to Martin, to have been given a window into the world of MND research, and I like what I see there. I have been inspired by Martin to read more and more about the state of MND research and the people involved in it. I now want other people to share the confidence and excitement I have in what they do.
You can imagine my excitement then, when Martin told me he had actually found a biomarker for MND, by looking inside (amongst others) my brain! It was like entering a prize draw to win a car, and then actually winning it. But then what happened next was, I had to sit on the knowledge for months while Martin feverishly prepared his paper for publication. So I was very pleased when it was finally published last week and I could tell you about it. This is amazing news, brilliant news – all the more so for me because I bore a part in its making.
The MND Association should not be forgotten here either. They got me to Oxford and they helped fund Martin’s research. But while we certainly have a lot of good people on our side, it is not an army by any means. MND research is underfunded and we need more money, a lot more money – I can not be bitter however, these are exciting times, exciting times indeed.
You can follow Patrick's blog at patricktheoptimist.org.
Another blogger we follow, Anne Marie Schlekeway of KissMyALS.com, passed away last week. Anne's unflinching honesty about the disease and her persistent sense of humor served as an inspiration for ALS patients the world over. Our thoughts are with her family... she will truly be missed. You can read an article about Anne's story here.