Kristy: And welcome to another episode of Simply Unbreakable, I'm your host Kristy Dickinson here with our cohost Brenda Agnew, and we are very excited to have a special guest with us today to chat a little bit about her experience and journey as a rare disease patient, our friend – my friend Cynthia Davidson. We originally met because Cynthia is my travel agent and I'm so excited to be able to use your services hopefully soon. It's been a long pandemic time of being grounded.

Cynthia: Hopefully soon.

Kristy: Yeah, fingers crossed. So Cynthia, welcome to our podcast and thank you so much for being here.

Cynthia: Thank you for having me. I super excited to share my story, so what would you like to know?

Kristy: Well, would you like to start with your diagnosis and kind of what that journey was like for you?

Cynthia: Yes, so I have what is called congenital myasthenic syndrome. It is a – similar to something called – which more people have maybe heard of, myasthenia gravis. Myasthenia gravis is an autoimmune disorder that attacks the receptor site – kind of like the synapses where the nerve ending sends a message down to the muscle to tell the muscle to move. The antibodies sit in there, attack the receptor sites and create weakness. Now mine, I do not have an autoimmune connected, so I do not have any of these antibodies. However, I still get very similar symptoms to that. So I do get very weak at times. And mine, though, is genetic, so I have a true genetic disorder. And in congenital myasthenic syndromes there are – right now I don't know what the exact number is, but I want to say around 20 to 25 different genetic defects that have been – I shouldn't say defects, I should say mutations – that have been identified that can kind of cause a similar disease. Like we kind of present the same, however they're treated very differently depending on whether they're pre, post or right in the synaptic gap of that whole neuromuscular junction area.

So I was diagnosed when I was, I think, 8 OT 9 as if I had autoimmune myasthenia gravis, so I was treated for that. I had surgeries for that. They removed my thymus gland, which they thought was producing the antibodies and causing the weakness, and in young children if that is the case 80 percent of them go into remission, so it was a very promising surgery to have at the time. And nothing worked, I had bouts of what's called plasmapheresis, similar to a kidney dialysis where they cleanse your blood. So they take a good litre of blood or so, however much you can handle at the time. Spin it down, take off the plasma where the antibodies apparently reside, and then give your blood back with albumin to replace the plasma and that is supposed to boost your energy and whatnot. Several different types of autoimmune medications to suppress my immune system up until I was 17 years old. So you can imagine the – not so much fun in that because nothing really ever worked.

And then finally at that point my parents were quite frustrated with doctors and just trying all these treatments for autoimmune we ended up going to – they got a referral to a different neurologist who then didn't think I had autoimmune myasthenia gravis and I was sent down to the Mayo Clinic where there are specialists down there who have only seen maybe 10 people in the world with something similar at that time. And they did a whole bunch of testing and that's where it was determined that no, I must have a congenital form of this disease and not the autoimmune type.

From there different treatments and then going on – bouts of, like, up and down all my life with weakness and strength and all of that and then finally I found other medications that other people had been using just through support groups and whatnot, and that's where I kind of took my health into my own hands and started researching a little more and advocating for what I wanted to do and try and kind of get into.

Kristy: What a long journey though. And I think – Brenda, did you have any misdiagnoses with Mclean or were his diagnoses pretty straightforward?

Brenda: So, his diagnoses were – well, so he had multiple diagnoses for many different things. We had to chase down his – it was more causation. So sort of similar. So the diagnose [stream of quality? 00:06:01] came quite simply, I think, to the development paediatricians and the neurologists that were assessing him, but it was the causation piece. And what was important about that is that we needed to know what caused his cerebral palsy because there were other comorbidities that would go along with that. And so knowing that his CP was caused by kernicterus, which was from untreated jaundice, that helped us to figure out that his hearing loss was auditory dys-synchrony or auditory neuropathy and not just a simple hearing loss. And then that helped with a whole bunch of other things. He had dental hypoplasia, he had astigma, so it was able to sort of – once we were able to determine causation for what had caused the brain injury then all the rest started to click in. So I think that was really important.

Where we saw a lot of misdiagnosis was with his GI issues. And that took about seven years to finally come down to a diagnosis of – it was a combination of things but ultimately what it was that was going on so we could find the appropriate interventions and treatments. So yeah, we definitely – even his hearing loss. His hearing loss was determined to be one thing and then it was determined to be something else. Yeah, we needed to know what the proper hearing loss was because that hearing loss would be receptive to a cochlear implant where the other hearing loss would not. So all those things were important because if you were off by a millimeter on something or another then it could really impact what the next step looked like.

Cynthia: I'm very fortunate. My weakness lies mostly in my arms and my legs. It sucks. When I'm weak I sometimes can't get dressed by myself. If I go to the bathroom I can't get up off the toilet, I need some help. So, yes, my daily activities of living can be difficult at times. I can't get up and down the stairs very sell, stuff like that. But on a good day nobody would even know anything is wrong with me. However, my girlfriend that has a different mutation, it affects her breathing and everything, so without this one drug that we're both on right now she wouldn't be able to survive. She has been taking that drug for, oh my gosh, I don't know, 30 or 40 years. So she had been taking it for so long and I'm, like, I – what drug is it and I want to try it, because if it works for you maybe it will work for me.

So it was me that found out all the names and everything. I took it to my doctor. I said, "I want to get this drug and I want to give it a try, how do I do it?" So he didn't even really know a lot about it, so he calls me his pain-in-the-ass patient because he's never known what to do with me. He's like, "I don't know, we can try this, we can try that." So it's always been trial and error kind of thing, or trial and success. So he's just always, whatever. He goes, "Oh, you're back. I don't know, I don't know what to do with you." But – so when I came to him with this drug he's like, "Yeah." He goes, "If you want to try it, we'll give it a try, you never know." He said, "OK."

And so then I was the one that looked into how to get it because it wasn't available on the market here in Canada. Not even available on the market in the States. Anyway, so we went through all the paperwork, got I, I did have to pay for it. It was about $400 a bottle, and that gave me about 400 pills, so a dollar a pill, and I would take two, sometimes four a day. I do need to take four a day but because it was $400, not that expensive really in the grand scheme of things, but it's still $400. So I would ration. I don't always take my afternoon dose because you know, I can save money if I don't. But on my bad days I definitely do. Or would.

And then, like I said, just recently this all kind of – it got approved in the States. The cost went astronomical to – I think the last time I asked was $9,000 for a bottle of 300 pills.

‍Cynthia: So cost has gone up and the amount of pills you get has gone down. And because it's not indicated for my disease nobody will cover it for me. So, this is where Kristy, thankfully, having known here even before all this happened – I'm like, she is my little angel in heaven that is looking over me, said, "Have you spoken to Innomar?" I'm like, who? And lo and behold, now, it is not approved in Canada. They – Innomar is the company that has their exceptional access or special access program to it and I am totally hooked up with them right now.

So that is –

Kristy: I think that that's such an interesting – well I mean it's devastating, but we as Canadians don't talk a lot about cost of medications or – like, we talk about cost of treatment, so you know, speech therapy or occupational therapy or med devices. But I think that the overall assumption is, "Oh, well, drugs are free. I have OHIP." And your story is, you know, as someone that's – I consider you a friend and you've worked with our family throughout the years to send us to all these beautiful places. So, I followed your story. And I think it's – until we know, like, part of being, I think, a rare disease community member I guess, it's part of a club that no one really wants to be a part of. But when you are a part of the rare disease community you learn more about the trials and tribulations and gaining access to treatments and how drugs are commercialized into Canada and what that process looks like. And very rarely do patients' families get spoken about. Or does the impact on families get talked about.

Your story, Cynthia, over the last 18 months and navigating this during the pandemic, and you're a travel agent, so you know, what's that done to your business –

Cynthia: Yeah, and you know, like my husband and I, we both do quite well financially until the pandemic hit, of course, but thankful that my husband still has his income and was not affected. However, it's – even with our income and doing well, $10,000 on medication every couple of months, that's not feasible, I don't think really for anyone. Even if they're, you know, well into the almost seven-digit incomes [unintelligible 00:13:31] maybe some of it [unintelligible 00:13:33]. But it's a lot of money. Like that's like me buying, you know, three or four $20,000-cars a year, right? It's crazy when you think of it in that terms – in those terms.

Kristy: I think that – I mean we talk a lot, Brenda and I talk a lot about proactive versus reactive health care, and this is very rarely do we talk about – do I hear people talk about quality of life. It is, it's a quality of life and you've lived without that. I've had treatments or access to treatments that have greatly improved my quality of life and then, you know, I can't access this because it's not indicated for me or you know, we can't try it because it's not indicated for people with my condition.

As soon as you make health care transactional, health care as a business, then you lose that ability to humanize it to look at someone's quality of life. What makes good sense? Cynthia is a mom. She is an active member of her community. With this medication she can work, she can pay taxes. She can be – she can have a life. Yeah. But I feel like it's – you have so many different cogs in that wheel that oftentimes, and what interested me about your story, Cynthia, and I've watched Brenda do it in her years as a caregiver and an advocate for McLean, and I've had to do it for myself, is why does the burden fall on the patient? Why does the burden call on the caregiver to have to fight – and I use that word, fight, because you're not – there's advocating, there's like, hey, can we look at this? Hey, health care provider, can we – like here's my information and I'm going to share it with you to advocate to receive a certain level of care. And then there's a fight. Like, I will fight for this. I will fight for access to this.

I think it's an important differentiator because oftentimes we frame advocacy when really it's not. It's a fight. You are fighting. And I've heard patients stand up at the rare disease conferences and talk about, you know, I should be planning to go to prom but I'm being told to plan my funeral. So –

Brenda: Well you know what's interesting too, Kristy, is if I take away for a second – this is something that transpired a couple of weeks ago with our caregiver. So she had gone through an unfortunate health situation. And it was a kind of one time only health situation. But you know, and she's – English is not her first language, but she's very fluent. But she has no family here, just her husband and she goes through this very scary experience. And so what was crazy about it is that she – it's nowhere near what we had to go through, but she had to chase down the referrals. She had to chase down – it's a very simple, very common situation that she was in. It was a very simple fix. She had to chase down her records. She had to chase down where the referral went, she had to go back to her doctor to do this – and I was helping guide her through that process. But I was getting angrier and angrier and angrier because I'm like, this wasn't fighting for – and I'm not justifying why we have to fight, but those wasn't fighting for a diagnosis, this wasn't fighting for an MRI, this wasn't fighting for a cochlear implant, this wasn't fighting for some – this was someone who it was something that happens to women a lot, and it should have been, here's this, let me send this over to here for you and then they'll be contacting you. And none of that happened.

And this poor woman had to go through this advocacy for something that – and I thought, again, you know, I was happy to help her but if – those are the things that transpire from a common, fairly everyday occurrence that’s still traumatic but needed to be addressed, how do people begin to navigate when it's more complicated? How do they begin to navigate when English doesn't come easily to them, or they're overwhelmed and they don't have the support systems in place or they don't have access to those physicians, or they don't have access to peer support groups? How the heel do you get that done? Because that's such a simple thing. And I watched her go through hoops for that. And I thought, good lord, you know, like it just – for me it almost –it didn't make me feel better, but I went, "Oh, OK, this seems like this happens to other people for other things." But it shouldn't.

And you know, and then specially think about when we're advocating, whether it's a rare disease patient, whether it's somebody who's been through something that's just happened acutely that won't happen again, or whether you're a caregiver, you're at your worst. You're at your worst at the time that is happening. You're not advocating when things are going well because you don't have to advocate. You're advocating when you're sick, when you're tired, when you're overwhelmed, when you're confused, when you're – you know, that's when you're advocating and that's the worst time to be doing that because it's so emotional and so draining. You know? But if you don't do it, to your point Kristy, if you don't do it, like, you know Cynthia if you hadn't got what you needed you wouldn't be here necessarily talking to us today, right?

So it's just – it's so unbelievable to me that it still happens.  

Cynthia: It does, and it's really sad. And you know, like my daughter's going through a few thyroid issues now, and I keep telling her, I go, "You know my story, you know what I've been through. You need to do the same." And she doesn't know where to begin and I'm trying [unintelligible 00:19:21]

Brenda: Because I'm going to go the ends of the Earth to make sure he gets everything he needs, and I'm going to fight that because I'm a mama bear just like all you would and whether that's to get them on the soccer team they need to be on, whether that's to get them a cochlear implant, whatever that's going to be, that's the role that you play it just varies from situation to situation. But I've seen it where, you know, Kristy – she can't – like –

Kristy: Like I physically can't get the words out.

Brenda: She physically can't and that's where I get – and that's so – like – yeah, and I mean I've done that with my dad, I've done that with [unintelligible 00:19:51], but I mean I've been to the hospital sick. I've had issues where I've gone, I've had a migraine or I've had appendicitis, whatever it is. And I'm struggling with pain and a broken rib and they're like, "Tell me your story, how are you feeling." I'm like, eewhhh. And so you know when I – so for me I actually think it's harder. You're in a position where you're sick, you're not feeling well, you're compromised and you may not have that support person with you and you're trying to say this is who I am, this is my story, this is what I need, this is what's wrong with me, this is what – you know, and it's just you.

And I think that's super tough. I really do. Because I just think, you know, at what point are you kind of like, "I'm tired of – I don't feel good. I don't have the energy to have this conversation or to –" I mean I've seen Kristy sit there for a week debating to go to the ER. And I'm, like, OK. Or [talk to you? 00:20:47] I know but I can't because of the birthday party and then you know, I've got this meeting and I haven't started to bleed out of my eyeballs yet, so I think I'm OK. Because you can't –

Kristy: Well, because it's exhausting.

Brenda: - afford the downtime either.

Kristy: Well, but it's also exhausting to – like when you're complex, it's really exhausting when you're that vulnerable and that sick, it is exhausting to go and have to tell your story and then they look at you and, Cynthia, to your point. It's invisible, right? So you're young, you're a beautiful woman, you look fine. So you go in and you're like, "Oh, I think I'm having an aortic dissection." And they're like, "Mo, like, you're 40. So we think you probably you pulled a muscle." And I'm like, "No, actually like, here's my blood pressure and this and this and my heart rate and here's the pain that I'm having and I sweaty." And they're like, "Nah." And ultimately – like, I got to a point during like probably my worst time where I would say to Brenda, "It's either going to fix itself or I'm going to die. But I can't – I'm too tired. I'm just too tired. So I'm going to wait it out and we're either – it's going to go one of two ways." And then she would step in and say, "No, I'm going to help you."

But it's hard to ask for that help, and it's hard when you're always – to your point and what I think is so interesting about your story is that I haven't had to navigate the special reimbursement program or fight about drug prices and pay out of my pocket for drugs that aren't approved in Canada. Like, that adds a whole other layer of complexity. That is just exhausting.

Cynthia: And Brenda, to your point, you are right. As much as I say it's just me and it's – like, you know, I mean yes I have a hundred other things to worry about, but when it comes to my health care I feel that I've got a pretty good handle on it. But the other side of that is, I'm feeling good today, right? So of course I'm going to say this. If I was having a bad day I might think differently and – but like I say, today is a good day and I got my [unintelligible 00:23:01] I'm happy. But yeah, so you're absolutely right. And you know, the crazy thing is, is really when I think – now – you're making me think here because now I'm like, I really only have my husband who truly understands my situation. Yes, I have friends. But do they really get it? I don't know. You know? I really don't know. I mean there are obviously some that I know I can depend on but – to be there to tell my story if I really needed them to, they could say a little and they know a little. But it is complex for them too that they'd be like, "Well, I don't know. I just know that she's got this and I don't even know that half of them would know the name."

Brenda: Right, right. And that's it, yeah. And we've been there. I mean I've been there with Kristy in the ER where there was someone else trying to explain on someone else's behalf about the medication that their parent had here. But again, that comes back to –

- I shouldn't have to – I should only take Kristy to the hospital, get her the ward blanket, because I know where they keep those, you know, get her the stuff, you know, and ask the nurse – follow up, hey – but I shouldn't have to know how to pronounce it. Because your record should be there. They should click on your name. It should be there and hopefully the doctor can pronounce whatever it is. But that's the point, right? Is that it shouldn't be complicated where you have to think, oh my gosh, who can I get to take me because only so many people know – and I mean it's the same thing for me. It's the same thing for McLean. I mean I worry – is he listening? I worry my husband takes him. Because he doesn't know how to pronounce things either.

But you know, I do, I worry whereas it really should just be they plug in the name, the records come up, the information is there and then that's where the clinician clicks in, after the doctor clicks in to say, "I'm going to get this patient what they need. Don't you worry about it. You know, I've got you."

Kristy: Here's the list of your medications, here's all your past MRIs.

Brenda: [cross talking 00:24:57] like that.

Kristy: No.

Brenda: No. It's not set up like that. But.

Kristy: Too many siloes.

Brenda: Yeah. I'm getting too old for this.

Kristy: Well, I'm – Cynthia, thank you so much for sharing a bit about your journey. I think it is – you know, we talk a lot in the chronically simple community that we support about managing your health and taking an active role in managing your health and that continuity of care piece. And you know, your situation continues to resonate with me because of just the complexities of what you're navigating. And of course being so rare. So. That constant struggle of, is there continued research in my area? Are we looking at developing new treatments? Is there access to these treatments? So that could be a whole other discussion.

But I'm just – thank you so much for coming and sharing your story with us.

Cynthia: Thank you for having me. It was a pleasure. And hey, theirs is – if there's more that I can share I will gladly share, even on another topic. Not that I know everything but you know, just sharing experiences is always good. So.

Kristy: Well and I think for any of our listeners that have to navigate these reimbursements or special access or compassionate care, it's hearing how other people do it, that's how we learn right? We talked about those tools in our toolbox and the education piece and you know, you sharing your story is just hopefully – I know I learned from it and that's what our goal is with this podcast. So you know.

Cynthia: Well, you know what? Even if it helped one person that's all that matters. Right? And hopefully it helped some more.

Kristy: Well thank you so much and I hope you enjoy the rest of your day. And as always, thank you to our listeners for tuning in with us and thank you Brenda.

Narrator: Thank you for listening to this episode. To make sure you never miss an episode please subscribe on Apple Podcast, Google Podcast, Spotify, or the app you're using now. Visit us on the web at chronicallysimple.com. There you'll find recaps of each episode as well as links to all of our social media channels.

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