Martin is Professor and Chair of the Department of Health Sciences at Carleton University in Ottawa. He studies rare diseases at the cellular level in laboratories, where the aim is to produce results that will eventually improve clinical care for patients. He had not worked directly with patients until Julie Drury, now the Strategic Lead for patient engagement at the Canadian Foundation for Healthcare Improvement, offered to bring her daughter (whose cells they were studying in the lab) to visit. This began a long-term collaboration between them, which Martin describes as life and career-changing for him and his team. He emphasizes that although it is also rare that basic scientists engage directly with patients and families, there is enormous value for scientists and patients alike to connect around the research and find ways to work together. He is now an advocate for engagement, encouraging his academic colleagues to seek out partnerships and engagement at any stage of the research process. He and Julie are working with a clinical colleague to share their respective experiences about partnership on rare genetic diseases in a manuscript and as co-presenters at scientific conferences.
Yeah, I think one could be the very sort of high level of technicality. And again, it’s one thing which was very impressive, and I was absolutely surprised to some extent, was that often we would think of non-formally-trained partners as that they don’t have the knowledge. Which is wrong, in particular when it comes to parents of patients. They often know more than some of the clinicians. And they also have a fairly good knowledge of the molecular understanding of how the disease might be progressing. So one way will be not to assume that the patients don’t know anything, because it’s clearly not true anymore. In the age of the internet, it’s not true.
Certainly for funding. It was Julie’s [patients’ mother] fundraising efforts which helped to secure funds to push the project forward. It was through MitoCanada, and so it was very – it was something which, again, we would not have necessarily anticipated that the family would be so much engaged in fundraising efforts to keep pushing the project forward. We are hoping to be able to communicate this story again in a written format in more patient-oriented publications, in particular – so this is a rare genetic disorder, so there are publications which are specifically aimed at rare patients, so that would be a great avenue to put the story forward.
It’s interesting, I mean, one of the issues we have is, we speak a completely different language, and how do you bring it to there? So our approach to that, let’s engage a journalist and perhaps a journalism student, and so then they can be yet another party which can benefit from this story. And so we’re working towards that right now.
Interviewer: Exactly how is the journalist helping?
At this point we have strictly the discussion, how do we go about it? I’ve engaged my colleagues from the School of Journalism, and they're trying to identify a student who would be a right match for this. And the idea would be, we would – almost as if doing self-interviews, kind of like what we are doing right now – but also, this person gets perhaps more technical information about the function of the normal gene, perhaps what the mutation – as far as we know, what the mutation is doing and how it becomes dysfunctional and what impact it has on the phenotype of disease.
And perhaps matching that with some of the experiences the family had, and so doing it almost as a sort of two voices speaking about the same thing as much as we can. So we’ll see how it goes, because it’s challenging, because these two works are so very different.
And maybe in about a year into the project, the request came whether or not they would be allowed to visit the lab. And they were interested in seeing sort of what’s being done in the lab and speaking also with the people who were involved. And so at the time, the group which was involved in this specific project was about seven people. And so we arranged for a visit, and so the whole family came, the girl herself, her brother and both parents. And that was very, to me, transformative, because all of a sudden you go from this academic discussion about cells with a mutation and they can grow in a petri dish, and something goes wrong, well, you know, no big deal, we can start again, to saying, here is a person, these are her cells. And everything we do in the lab has a direct impact on either her future, or her current wellbeing, or on the understanding of either her or her parents on the progression of the disease. And also on providing a diagnosis for this girl.
So I initially thought it was just me who was so affected by their visit. It turns out it was everybody in the group. It’s very unusual, especially in a molecular biology setting that you would have patients visiting, because typically we’d work with samples from anonymous donors, or it will be cells that is derived from people who were deceased a long time ago. So it was very, very transformative, and we realised that what we do in the lab has an immediate impact; although we are unable to necessarily find a cure, we can provide much better and a much higher level of understanding for the family. And it served both as a motivation for all of us. It was great to see the students, how they changed their view of how important their research, what they're doing, is. And also how you have to approach the setbacks a bit differently, because it’s no longer this academic discussion about XYZ. But also for myself, I realise that as a parent, the value of information that can be provided by the research team, goes beyond just understanding of the disease.
And so we then continued to stay in touch with Julie through the years and tried to sort of keep her abreast of some of the discoveries we made in the lab. But also – and this is what I started to appreciate more as we kind of progressed with the project – was to try to work on communicating to the other – the larger scientific community – how you can have a patient and patient partner focused research – academic research – and how it can be perhaps used as a model for others. And so between our clinical colleague, her sort of, and myself, we started to think of it a bit more globally, and so we’ve done some presentations. We’ll be doing another presentation this fall, really showing the story from three different perspectives. How does the patient see it, or the patient’s family in this case, how does the clinician see it and how does the basic researcher see it, and how we can each contribute to the development of the partnership itself.
Interviewer: And do you talk to your students in class about this?
I do, I do. I'm actually very proud to say that I do what I preach, and so I try to bring different views, points of view, to the classroom. I try to bring patients themselves. I try to bring the clinical perspective as well, and I try to also bring perhaps the policy and regulatory framework into that. And so I think especially in health research, if you're trying to train the next generation of students, we have to give them opportunity to see all angles of that. And so the [school that did… ] the science is one part of that. It’s very powerful. So I teach a third-year course, Diseases of Childhood, and I bring a friend of mine, who is – she has thalassemia – beta thalassemia. So we talk about the disease from the molecular perspective, we talk about other aspects of that, and then I bring her to speak to the class. It’s very different when you hear from a person who actually has that, so it’s a lived experience. One interesting thing is that lots of students can relate - thalassemia is one of those diseases where it’s much more prevalent in Mediterranean or African populations. We have a large international cohort of students. Many of them would come and engage in a class because of this, because they’ll say, oh, now I understand, or I have a cousin, or I have somebody. And so they make that connection and all of a sudden they can engage in the class, so it is very powerful as a teaching tool as well.