Michael Maalouf | The Rare Disease Interest Group | Lynch Syndrome | Arrthymia | Colorectal Cancer

DESCRIPTION

The Rare Disease Interest Group (RareDIG) is run by medical students at McGill University in Montreal, Quebec, Canada.  Its Director is Michael Maalouf, our guest on the @CancerInterviews podcast.  The students seek to raise awareness for rare diseases, including rare cancers, such as Lynch Syndrome.  Michael says there is oftentimes a lack of representation for those diseases, especially when it comes to diagnosis and treatment.  He says RareDIG wants to enhance awareness for those in the early stages of medical school.

Michael Maalouf is from Toronto, Ontario, Canada, and studied at the University of Toronto.  It was there that he conducted research at the city’s Hospital for Sick Children, and learned a lot about rare diseases.  His research led him to medical school at McGill and in 2017, RareDIG was formed.

While studying at the University of Toronto, he saw how in many instances, when a child was diagnosed with a rare cancer, doctors could not pinpoint what type of cancer it was, and then, once they did, they were unsure how to treat it. 

Since joining RareDIG, Michael Maalouf has spoken with medical students across North America about rare diseases.  He says in his experience, once he shares the challenges of raising rare disease awareness with medical students, they want to learn more.  Michael is optimistic about increased awareness because when he shares what he knows with other students, they want to share what they know with still more students. 

Michael says increased awareness has to come not only from medical students, but from established members of the medical community.  To maximize this message, he says groups like RareDIG have to target it in a way to get the best possible outcome.  For instance, rare disease advocates approach an established cardiologist, they need to highlight rare diseases in cardiology, such as arrthymias.

A rare form of colorectal cancer is a syndrome called Lynch Syndrome.  Perhaps one or fewer people out of 10,000 are diagnosed with Lynch Syndrome, but Michael says if you add up all the rare cancers, they account for 22 percent of all cancers diagnosed worldwide.  Bringing that statistic to light is part of RareDIG and similar groups creating awareness.

In addition to medical students and established health care professionals, Michael says the attempt to increase awareness needs to involve pharmaceutical companies.  For that involvement to materialize, the pharmaceuticals need to be motivated to research rare cancers instead of tackling a cancer that has a much higher profile.

In the meantime, RareDIG is working hard to connect with medical schools at universities across North America so that they amplify RareDIG’s work.

Additional Resources:

Rare Disease Interest Group: https://www.raredigmcgill.com

TRANSCRIPT

Bruce Morton: Greetings and welcome to the @CancerInterviews podcast.  I’m your host, Bruce Morton.  Our interviews illuminate the stories of people who have survived cancers whose names you know.  Prostate cancer, breast cancer.  What you might not know is that tens of millions of individuals around the world are affected by one of close to 7,000 rare diseases, some of which are cancers.  On this segment, we will hear from the leader of a group whose goal it is to provide support for cancers sufferers who often have few, if any, support options.  He is Michael Maalouf of the Rare Disease Interest Group, based at McGill University in Montreal, Quebec, Canada.  Michael, bienvenue au Cancer Interviews.  Welcome to Cancer Interviews.

Michael Maalouf: Thank you so much for the wonderful introduction and for having me on this show.  It means a lot and I think you are doing wonderful stuff. and it is a pleasure to be sure.

BM: The same to you across the board.  So, the first thing we want to do is the first thing we want to do with all of our interviews is to learn a little bit more about our guests and their lives exclusive of their involvement with this interview.  If you would, tell you us a little bit about where you’re from, we already know about what you do for work, but maybe a little bit about what you do for fun, that sort of thing.

MM: I actually grew up in Toronto, which is a city in Ontario in Canada.  I studied there at the University of Toronto.  I studied physiology and pharmacology there, and honestly, a lot of my free time, I like to play soccer, I like to stay active, and I like to stay social and meet new people and learn their stories.  That is actually one of the things that made me interested in rare diseases, to begin with.  When I was doing a lot of research at the Hospital for Sick Children in Toronto, I got to talk to a lot of different patients, and I got to learn a lot about rare diseases there and that is sort of how everything started for me and how I got interested in this area.

BM: The Rare Disease Interest Group.  It exists. There is a reason for its existence.  RareDIG, for short.  Why does RareDIG exist?

MM: RareDIG is a group of medical students, and we are fully run by medical students here (at McGill).  We are a group of medical students that seek to raise awareness for rare diseases because there is oftentimes a lack of representation for those diseases, especially when it comes to diagnosis and treatment, and we are really trying to tackle the awareness issue from the early stages of medical education.  So, that’s really our main interest because we are a group of medical students and that is really our strength to stay together and raise awareness as a group.  Actually, we have kicked off a number of different chapters in recent years.  We started in 2017, but now we have chapters across North America, including at the University of Pennsylvania and Johns Hopkins University and Georgetown University, and some of the things we aim to do, and how we raise awareness are through educational events; we also do a patient perspective series, in which we have patients and their families do an interview much like this, where we get to discuss some of the things that people with rare diseases go through from the source.  You know, a lot of the times the information we get is from textbooks and we learn a lot about the science behind the disease, but our interest is really to put a face to what is going on in the rare disease world.  It is one thing to read those statistics, but it is another thing to those stories directly from those families.  It is very touching.  So, that is some of the stuff we do, and the goal of what we do is to raise awareness in the medical student community.

BM: It’s one thing to have an idea, it’s one thing to be motivated, but it is quite another to take this motivation and act on it.  Could you talk about the process, the chain of events connecting this idea and putting it into action?

MM: I started off advocating for rare diseases as an undergrad.  As I mentioned, I was studying pharmacology at the University of Toronto, and I did some research and volunteering in pediatrics.  So, those two things were my first exposure to rare diseases.  I got to see a lot of the struggles of not knowing what the diagnosis was, and the delay in diagnosis that a lot of the people that I met really experienced, and it really touched me and made me do more research and get involved with a rare disease interest group over there (in Toronto).  I started volunteering and got to learn about the experiences of patients with rare diseases.  So, when I started my medical schooling here at McGill University, I saw that the Rare Disease Interest Group already existed.  It was there before my arrival, and it was initiated by a group of medical students here.  That’s really how I got started, and through that, I got a chance to learn more about the unique features of rare diseases and connecting with patients and families.  That passion is something that really hasn’t stopped happening, and honestly right now, we are trying to do more research in highlighting the need for rare disease education across North America.  That’s something that we just got started on, and honestly, it’s been great.  I think the more people we can connect with and the more people we can talk to and have on our platforms, such as this one, I’m very grateful for that, the better I think the awareness issue will be addressed, and then we can start to make a difference, because the first step is just education and awareness.

BM: You have had two environments as far as your medical education is concerned, first University of Toronto, then McGill, so you have been surrounded by a lot of med students by being part of that environment.  Has it been a tough sell with other medical students to get them on board to combat rare diseases, rare cancers, or have you found a lot of med students who want to embrace this as you have?

MM: Surprisingly, I find once there is an awareness about this issue, I have found in my experience that medical students across North America that I have talked to that I have had the pleasure of working with, are so motivated and so interested because really it has so many things that I think anyone in medicine would be attracted to that, number one, there is a lot of patient connection when you are talking to someone, especially in the early stages of medical school, it is very textbook-heavy, so that is the first opportunity through rare disease interest groups and patient advocacy groups in general to get to be in touch with the population you serve directly, from an early stage.  Aside from that, it’s a great first exposure in advocacy to learn whatever some of the ways you can raise awareness and motivate people to make a difference, so one of those ways is, one of the things we have been working on, is making a research grant to encourage students to do research in rare diseases.  At our university, if you choose to study rare diseases, we’re working on developing a grant for that.  That’s just a small little thing, but all universities did that, you can imagine how much more research might be done into rare diseases, and that’s one of the areas where there is a need.

BM: We had talked about med students, but I would think it would aid what you are trying to do if you can get some established members of the medical community involved to apply a little extra inertia to your effort.  How difficult of a sell is it to go to an established cardiologist, an established urologist, and get them to throw their weight behind what you are doing?  Is that a difficult thing, or are you finding there are established members of the medical community who also want to get behind what you are doing?

MM: That’s an excellent question.  I think there is always an interest, but first it needs to be brought to their attention of those people who are already advanced in medicine.  Oftentimes, it’s not that people don’t want to get involved, but maybe the opportunity hasn’t presented itself in an easy way to get involved.  Everyone has busy schedules and stuff like that, but from my experience, once people are approached, for example, to give a talk in their specialized area of medicine.  That could be in cardiology, in rare diseases in cardiology, rare arrhythmias, stuff like that, there is absolutely an interest.  Some of my biggest mentors have been clinicians who really inspired me to get involved in this, so it’s almost like it’s a positive feedback move that one person inspires the next and just continues and continues.  It’s not necessarily the professors and the teachers who inspire the student, but sometimes as you mentioned, sometimes students can reach out their professors and shed light on the issues some of the way they can get involved as well.

BM: We are a cancer interview forum, so, Michael, if you would, give us an example of a rare form of cancer.

MM: What comes to mind is a rare form of colorectal cancer is a syndrome called Lynch Syndrome.  A lot of people have heard of this and what is interesting about rare cancers is that it’s a bit of a misnomer, and perhaps you have heard this as well that if we think about rare diseases individually, for example, Lynch Syndrome or other rare diseases and rare cancers, we think of diseases that occur in small portion of the population, maybe one or less in 10,000, but actually if you look at them all together, and specifically rare cancers, they account for 22 percent of all cancers diagnosed worldwide.  This is absolutely not rare because it’s even more common than some common forms of cancer that you listed earlier on, and it’s just the fact that they are so unique some of these types of cancers is what makes it hard to treat or hard to diagnose.  Bringing that to light is part of creating awareness.

BM: So, first of all, it is difficult in some instances to diagnose a rare cancer, but once it is diagnosed, what obstacles does one face, obstacles that might be faced by someone like myself, who was diagnosed with prostate cancer?

MM: That’s a very important question that you bring up.  I’d start by saying that since those rare cancers that I mentioned are so unique with a very rare genetic background to the disease.  The way that it might come to be is very unique, so that’s the first thing that is a challenge, that since that there are so many different kinds, it’s not as common to find two people with the same treatment that might work.  As I was mentioning earlier, one of the biggest issues is in research because in medicine, everything these days is aimed to be evidence-based, so anytime you are going to suggest that a certain medication or treatment or surgery, ideally, it should be backed by the strongest level of evidence based on large, large population studies, so that you can get a very strong confident result that this drug or this surgery is the best possible way to go.  For common forms of diseases or common forms of cancers, there are many studies like that, but as you can imagine, when there is a smaller population of people with a certain type of disease, it is hard to get volume and the large numbers to get those confident results that say that is the best solution.  More and more, it seems like those treatment options need to be personalized.  Instead of making one massive trial that will be an overarching rule for everyone with this type of cancer, it might be more case by case, very unique options for treatments.  For example, in the future it might be more genetic therapies, and very exciting new avenues like that.  Of course, this will require a lot of awareness and a lot of motivation for pharmaceutical companies and labs to decide to do research on a rare disease instead of tackling something that already has a lot of research going into it, not that that’s not important, but it’s important to get an understanding of rare diseases because we may be surprised to find that learning about a rare disease might actually better inform us about a more common disease as well, as is often the case with basic science and research.  It’s not always clear what the benefit is going to be from that research.

BM: You had briefly mentioned a genetic component in this.  One of previous guests is a former GI who now leads the fight against colon cancer.  He is quite on genetic testing as a way to get out in front of a variety of cancers.  How might genetic testing figure into the battle against rare cancers?

MM: I think more and more as technology progresses, especially in genetics, something that is exponential the rate at which discoveries are being made in genetics.  So, I do think that there will be more and more avenues for personalized medicines through genetic gene therapy and that’s something that I think is going to be more and more popular in the future; but I do think that of course, as with anything, it has to be approached cautiously, and it’s always a double-edged sword whenever some kind of new treatment comes along because you have to be aware of the possibility of new side effects or new complications or maybe some people might be excluded.  There might be some inequalities in access to these medications, especially if they are very new they might be very expensive, but I do think that with time, just like with a lot of technologies, we are seeing that the cost of production can slowly go down, so there might be a benefit in the long term, and it is something very exciting.  I do think there is a lot of potential for that.  I am not at all an expert in that field, but is something that I am following from the outside and something I am very interested in.

BM: Michael, you had talked about education and awareness, and those are certainly great components to get the ball rolling to take a lot of cancers out of the dark and put them into the light, but if you contacted by somebody who fell into this profile, somebody who had been diagnosed with a rare cancer, is there anything by way of action that RareDIG can do for them, maybe networking and putting them in touch with the right doctor?  I mean, you might hear about somebody in Saskatoon and put them in touch with a doctor in Toronto because that’s where a doctor who can treat that rare disease.

MM: RareDIG doesn’t have a formal referral system or anything like that.  We don’t practice medicine, we’re really an advocacy group.  However, we would love to be in contact with anyone who would like to reach out because we do have a network, and we do have a lot of people that we have worked with in the past who know who know different rare advocacy groups and patient support groups, so that is something we can do.  To find a support group is very challenging and can often feel very lonely for patients who are recently diagnosed, and their families, to find that community.  I do think that once they do, that’s something that help people do through our network is find that community because that really reduces a lot of the anxiety and it’s kind of like having an older sibling that has been through it before, someone you can ask for advice, stuff like that. We have a website and you can contact us directly through that website, and I would like to help in whatever way we can.  That’s something that goes without saying and is our main mission; not only that, but we could put you I touch with professors as well as give you opportunities to share your story, much like you guys do here on Cancer Interviews.  We also like to have patients tell their stories directly to the public.  That’s something that helps people who have not had the chance to connect with someone.  It opens the door right away to connect and gain social support.

BM: That said, there is no time like the present to get that web address to listeners and anyone interested in availing themselves of the services and expertise of RareDIG, so, Michael, what is that web address?

MM: It’s www.raredigmcgill.com, and from there, you can e-mail us and see all the activities that are ongoing on our website, and please feel free to reach out to us.  It’s always a pleasure and the more people we can reach, the better.

BM: You had mentioned earlier, Michael, that there are some other organizations here in the United States that are sort of doing the same thing that you are.  Is there anything that RareDIG is doing to bring other universities into the fold to join your ranks and enhance your message?

MM: It’s interesting you ask this because one of our long-term goals, that’s how we started to get connected with other universities has been to expand our group across North America; so, all the time we are connecting with universities, one by one, helping them get set up, and sent them kind of a welcome package.  It had tips on some of the activities we are doing and how you can get involved with our activities, but also what you can do own your own to get started in your own university, and get guidance from professors and specialists in your community.  This has been extremely successful.  Some of my colleagues at University of Pennsylvania have already started doing their research projects on rare diseases and at Johns Hopkins, through social media they are doing their own form of advocacy in this area.  This inspired us to do the same.  So, it’s always a two-way street with this kind of thing.  You could encourage other universities and they encourage us.  It’s very exciting to see, and it’s amazing to see this ripple effect.  Before you know it, we might be this massive organization.  We are really excited for that, but everything takes time, but we are very optimistic about that. 

BM: You have mentioned some very prestigious institutions of higher learning.  They are all in North America.  Can you envision a day in which these efforts globalize?

MM: Yeah, absolutely.  Before I was at RareDIG, the presidents before me had a lot of interaction with some organizations in the UK, and some organizations overseas.  That’s something we like to branch out into over time.  It’s just about being in North America.  That’s just a convenient first step because that’s where we are.  With the Internet, it is so easy to get connected even when we are miles apart, so, that’s something we are excited to continue to do.

BM: Michael, we are going to wrap things up now, and as we do so, we have one final question for you.  Knowing what you know about the fight against rare diseases, knowing about the work of RareDIG, is it easy for you to foresee a brighter day in terms of research, diagnoses and treatment?

MM: Absolutely, without any doubt.  Everything has its challenges, but every hurdle has its solution as well.  I think the number one key to keep in mind is to not lose optimism and the strength that we have as a community is really with the people you can connect with.  Just like we are doing this interview right now, and we have connected in the past, and have met through mutual connections as well, it is in the same way that people who are experiencing that kind of loneliness early on, when you are not sure what the diagnosis is or what it is going to be, always reach out to someone.  Just like you with Cancer Interviews and us with RareDIG, they can enter the community and feel less alone, and we all learn from those who have been through much the same thing.  Especially with rare diseases and rare cancers, it can be very challenging because they are rare, but at the same time, remember there are communities out there, and that’s the key point.  Aside from the research and all that stuff, the key is to stay connected with your community.

BM: He is Michael Maalouf, he is the president of the Rare Disease Interest Group, based in Montreal, and before we go, Michael, let’s have that RareDIG web address one more time.

MM: Yes, it’s www.raredigmcgill.com, so you contact us anytime at that address.

BM: Excellent.  Michael, thanks so much for your time, and thanks for shedding some light in an area that could probably use a great deal of candle power.  By all means, best wishes for what RareDIG seeks to do and the message it seeks to send out to others.  One more time, Michael, thanks so much.

MM: Thanks so much.  It’s absolutely a pleasure.  Thanks so much.

BM: And that brings to a close this episode of Cancer Interviews.  Remember, if you are on a cancer journey or know someone who is, that you are not alone.  So, until next time, we’ll see you on down the road.

SHOW NOTES

TITLE: Michael Maalouf, President, The Rare Disease Interest Group – Montreal, Quebec, Canada

Worldwide, tens of millions of individuals are affected by close to 7,000 rare diseases, some of which are cancers.  The Rare Disease Interest Group, based at McGill University in Montreal, seeks to raise awareness of the unique challenges presented by rare diseases to those both inside and outside the medical community.

Additional Resources:

The Rare Disease Interest Group: www.raredigmcgill.com

Time Stamps:

02:43 Reason for RareDIG.

09:40 Michael is asked if there is interest in RareDIG’s efforts from established doctors.

11:30 An example of a rare form of cancer.

13:10 Michael describes obstacles faced by those diagnosed with a rare form of cancer.

16:20 The role of genetic testing in the future of the fight against rare cancers.

18:26 How RareDIG can help someone diagnosed with a rare type of cancer.

21:01 How to contact RareDIG.

KEYWORDS (tags):

rare cancers

cancer

arrthymia

cancer interviews

colorectal cancer

bruce morton

lynch syndrome

michael maalouf