A Patient’s Voice: Fearless Rare Disease Patient Advocacy

Howard: Again, Rebecca, thank you for making the time to speak with us today. We’re really looking forward to learning more about your personal experiences as a patient with the rare disease as well as your personal experiences from being a leader within the community and gaining some insight from you on how healthcare marketers like ourselves here at Lanmark360 can do our part in helping communities like those that you’re currently serving. So thank you for that.

Rebekah: Yeah, well thank you for the opportunity.

Howard: Can you talk a bit to us about your journey from pre-diagnosis to diagnosis and your life today?

Amy: Sure. I, like many other MS patients were likely suffering symptoms many years ago but didn’t realize that it was MS at play. About three years ago I did notice an increase in dizziness and numbness, and so I did decide to get it checked out. And my neurologist was, he was so kind and reassuring, and he could tell that I was getting nervous as I numbered off my many symptoms. I, at the time, thought maybe this is a brain tumor just because there were a lot of things – and until I actually had that appointment with him I didn’t connect everything. But he said, “You know I don’t think it’s a tumor and you probably said it to me, you probably think it’s MS, Amy, but I don’t think it’s MS. So let’s just, let’s just get some results back and we’ll see what the next step is.” So I had a blood test and had an MRI – kind of at the last minute he decided to order an MRI – and then a month later I got a phone call saying that in fact it was MS.  So my journey was one that I had somewhat of an idea it could be MS, but it was surprising and shocking obviously. And I think when you’re first diagnosed with the disease, you don’t truly understand what it means until you’ve had it for a few years. Because you can read about it, but until you actually experience it, I don’t think that I was able to truly grasp what was going on. So now looking back three years – you know almost three years ago – I can see that, you know, at the time I thought I was going to be immune to future symptoms because I was taking medication. I thought that it was going to protect me; and while my medication has prevented new lesions, I am experiencing new symptoms of MS. So all in all, you know, I’m thankful I had a great support system. I live close to my family and my husband has been fantastic and I think my healthcare provider, my neurologist, is very good and I’ll be staying with him throughout my journey.

Howard: Wow. That’s great to hear that you have that support system in place. You know, talking about support system… so at the initial stage of diagnosis, what type of resources were made available to you as a newly diagnosed patient?

Rebekah: So, I had other health issues prior to the Myasthenia gravis but they were undiagnosed and the Myasthenia gravis came on very suddenly. I was, I didn’t have the particular progression where I had, you know, the ocular manifestation and the fatigue that developed on two other symptoms.

I was at the beach in August at a family reunion and all of a sudden I started having trouble walking. I started having trouble with my grip. I remember being very tired. I remember feeling like I had the flu. So it was very alarming for me because it’s such a sudden change. And
you know, I was healthy and young and, you know, thin and tan and all the wonderful glorious things being young. And you know, I think we just assumed maybe I picked something up in the water, or maybe I had some bad food.

You know, and after two weeks when I continued to decline I went from trouble walking to trouble breathing within two weeks, which is very unusual with MG. So, my grandmother has it. And so we were a little bit familiar with kind of the pathogenesis of what, you know, Myasthenia gravis can do and so we began. We went to the ER saying, hey, you know, am I okay? And I actually had started working there as a chaplain. So I went back there, you know, saying, well I was working in the trauma department. And I’m thinking, hey, this is my family. You know they’ll take care of me. And they couldn’t find anything in the initial bloodwork and they told me I was malingering. They told me I was psychosomatic. I was deconditioned, all the things that you kind of go through. I was too young. So, within, I think, that the second ER visit I had a spinal tap. After that spinal tap I start having trouble with my legs.

Then I had a second spinal tap 48 hours later and I was paralyzed. So I went home in a wheelchair. I couldn’t walk or move my legs for six to seven weeks. I had to have help with everything. So that kind of masked some of the Myasthenia gravis because it’s not traditional for Myasthenia gravis so doctors would fixate on my legs and not really look at my other presentations. And so that kind of began the very difficult, I thought getting the diagnosis was the hard part. It was, but it was really kind of going into treatment and, you know, what drugs were working and not working, and you know, for me, I have a very sensitive system of chemicals.

So, I’m leaving a lot of detail out but that’s the general overview. And you know those things that were very traumatic for me ended up being tools that taught me. Really, kind of gave me the foundation for gaining clinical information and knowledge about what was happening, why these things happen, and how to prevent them in other people. Because a lot of things I went through could have been prevented. So that kind of gave birth to what I’m doing now, and it was a very informal process at first getting involved in my community, and it just it really grew. There’s such a need there. So that kind of led to why.

Howard: Myasthenia gravis. How many patients in the US have this condition?

Rebekah: The rough estimate is anywhere between sixty thousand, two hundred thousand. And it leans more towards that two hundred thousand mark. The problem is that we’re so under-diagnosed. We get misdiagnosed with somatic disorders. We get misdiagnosis. Bell’s palsy, stroke, for some elderly patients, it’s dementia. You know, anxiety disorders. Sometimes you get cranial nerve damage disorders. There’s a lot of kind of outer lying things that ALS, because ALS is really a disease of exclusion, so if they can’t find Myasthenia gravis in testing, either their seer negative patients, they sometimes mistakenly go over to maybe a different diagnosis. So you know a true number is kind of hard, but the average guess is about 200,000.

Howard: So definitely defined as a rare disease.

Rebekah: Yes, very much so.

Howard: And during that initial stage of finally being diagnosed, what type of resources, if any, were provided to you to help you cope with this information?

Rebekah: None. We had been involved. We got plugged into the local support group.

Howard: And who helped to facilitate the introduction of you and your family to the local support group?

Rebekah: We were semi-familiar with it because my grandmother, years ago, had gone, I think it formed like 18 or 20, 18 or 19 years ago. And so she had gone right as it had been formed. So we looked up to see, you know, was it still around and they were still around. We had no idea the foundation exists. We had no idea what materials were out there. When I was diagnosed I was wheeled into a doctor’s office. After they told me, I had a physician telling me that he was betting his license against me that I didn’t have Myasthenia gravis. And it was his associate who had to give me the phone call saying, “Uh-hmm, Miss Dorr, you have this disease.” So they wheeled me in. I was still in a wheelchair, still paralyzed. They wheeled me in and they handed me Mestinon and that was it.

They said take six milligrams three times a day. See you later. I knew nothing about the drug. I knew nothing, you know, about potential side effects. I didn’t know about cholinergic crisis, you know, I didn’t know anything about it. So I really was kind of handed a script and said, “You know, this is going to be your magical solution and here you go.” And I was given nothing after that.

Howard: And how long ago was that?

Rebekah: That was 2011.

Howard: And now hit fast forward and here you are today. Has there been any developments made in regard to providing patients with resources at a time of diagnosis?

Rebekah: I don’t wish to speak ill. The National Foundation does their own thing, I do my thing. I developed a patient packet. I developed a 28-page patient packet specifically for, you know, new patients and caregivers, even some number of veterans, you know, end up using this packet. Because there isn’t information education out there. So I cover everything in there from, I think, I have like a full-page delineation of common terms and definitions for, you know, what is flaccidity, and what does the neuromuscular junction, down to breaking down with what the drugs are, and side effects and, you know, crisis and all kinds of material trying to bring all these resources in-house and under one roof so to speak. So I’m trying to be prophylactic and make sure that we can get them information ahead of time.

Howard: That’s great and it sounds like there’s a huge need for that. How many drugs are there to treat MG?

Rebekah: There are 12 options right now, and I say options loosely because a lot of them are off-label. Insurance companies are not prescribing a lot of them or not approving them for use.

Howard: And because they’re off-label is that potentially the barrier, the obstacle that the pharmaceutical companies have in providing the right type of patient information?

Rebekah: It can be. You know, because a lot of times if you read, there’s no consensus. So you read information about, you know, pyridostigmine bromide, which is Mestinon, okay, or Valeant Pharmaceuticals who produces this. And they will have information on Myasthenia gravis, on this drug, and the disease itself. But Mestinon is a mainline drug approved for Myasthenia gravis. So it’s not too hard to get information about that drug. Corticosteroid therapy, you’re kind of on that balance. When you start getting into Imuran, CellCept and kind of more your tertiary options, that’s when you start getting conflicting information. So you’ll have a lot of insurance companies and physicians who get information, this as well. It works over here, but it doesn’t work over here. It’s off label, but we see some benefit, you know, with crisis patients but they don’t use it for maintenance patients.

And, you know, there’s no consensus on dosage so the recommended dosage generally speaking is 2 grams per kilo for the patient. That’s rarely followed. There’s not a lot of information that disseminates down clinically and then it’s not a lot of information that gets down to the patient. So I think because it is off label, it’s not a streamlined targeted approach. I do think that very much is a kind of a direct offshoot of how we treat.

Howard: Do you have any ideas or suggestions of what the pharmaceutical companies can do to serve the MG community better as a workaround to some of the barriers that come from the off-label use?

Rebekah: I think one of the things that has kind of been the heart cry, if you will, is trying to get information in layman’s terms, for the patient from the pharmaceutical company. So for instance of IVIg. Okay, you have seven or eight different brands of IVIg that each have their own stabilizers, osmolality levels, and all kinds of different stuff and viscosity that comes into play with Myasthenia gravis and you’re treating. Unfortunately a lot of that stuff goes over the head of the patient and sometimes was over the head of the physician, to be honest with you, because they don’t work with it enough.

So what we have been trying to do is trying to form a panel of expert patients, if you will, who have Myasthenia gravis you want educated to kind of impanel with some of these pharmaceutical companies and some of these reps to say, okay, this is what we’re facing with treatment. This is what we’re needing from an education standpoint. This is kind of our side effects or quality of life with treatment and hoping that that can shape some of the material that’s coming out. Not just for, you know, the lay community, but for the clinical community.

You know, I think a lot of times when you look at these off-label drugs it’s very much a Pollyanna approach. So you’ll have a company who might delineate what this drug does and its modality or mechanism. But they don’t talk about, you know, the outer lying side effects, quality of life that comes into play, and how these different things affect the patient with the patient’s choices and the patient response. So, I think there’s a real need there to start making that connection, that liaison, partnership, if you will, with people who are leadership in the community who say, you know, this is really what’s working and not working for us. Because I think that will help develop better treatments.

Howard: So bringing together the pharmaceutical companies and patient advocacy groups, who in turn, meet the needs of the patient.

Rebekah: Yeah, because I think there’s a huge gap there. I think you have, you know, the clinical, you know, aspect that’s very neutral, you know, it’s, you know, QMG scores and all of their stuff that’s really not getting the full picture of what treatment is like and you know patient response and access to these treatments. You know, and then you have the other side where we, you know, you look at the lay communities. That’s all they see is the non-clinical side. So I think there needs to be a bridge there. This is okay. Somewhere in between lies the answer.

Howard: What about patient-to-patient support? Are there any types of support groups that are currently sponsored by pharmaceutical companies?

Rebekah: Not that I’m aware of. I have the largest international support group. I have no affiliations with any companies. I haven’t approached anybody and they haven’t approached me. The MGFA has their local support groups but they are not affiliated. BioFusion, which is an infusion company, works for them but they don’t have a pharmaceutical company. They used to. Valeant used to back them. And for whatever reason, that deal fizzled out. So the only other groups that I’m aware of are offshoots. Like you have the Western Pennsylvania Association and you have the Michigan chapter. They tend to affiliate with their hospitals or their specialists rather than a pharmaceutical company.

Howard: Is it difficult for you to do what you do as a community leader effectively without support from a major corporation or funder?

Rebekah: I’ll say it this way. I’m the salmon going upstream, so I’m the rebel voice, if you will, that kind of calls out and says, you know, quality of life is, even with advancing treatment, is still very poor. In fact, I have a medical researcher who’s finishing working up getting published on her quality of life study that she’s doing. So there’s kind of a divide there. But some for being one person, by myself, having no support, I have had the incredible humble opportunity to reach, you know, over 7,000 people.

Howard: Wow.

Rebekah: You know, worldwide that I continue to talk to on a daily basis so I have had the opportunity to, you know, work with, I partnered with teams in Australia and the Philippines and the UK and I’ve had the opportunity to really kind of have a broad base. The problem is I lose credential authority when I say I’m by myself. So, you know, I think there is a need for building a base. It’s just who do you connect with? Who is interested in building that base with you and making a partnership?

Howard: And what is it that motivated you to do what you do for the community?

Rebekah: I didn’t want people to go through what I went through. I remember being very alone. You know I had my family around me, but it’s a very scary time. You know, I think there’s a lot in here that, you know, I want to stand in the gap with people. I want to help them if I can, avoid as much of the hell that kind of comes with it as possible. And I think that, you know, there’s a large room, a large availability for that. And so I walked away saying, you know what? This shouldn’t be happening. And you know, because I got stable thymectomy, I use stable very loosely. But because I’ve stabilized with thymectomy, you know, I walked away saying, I want to do more.

And I think I started out saying, well maybe I’ll help a hundred people. And it just continued to expand and grow and grow and grow. You know which demanded more of me and demanded of my knowledge, and kind of sitting under some of the best of the best. You know getting training and partnering with the MDA and partnering with all these different people. And so, that really was my heart crying. I was saying, you know, I want to help people live as best of a life as they can so, well, I tell people all the time on my page and my foundation is I’m here to walk with you. The whole way, and really kind of be what I wish I had had.

Howard: Very inspiring. From the standpoint of, you know, hearing the horrific experiences that you went through. What could be done different to help to promote and encourage diagnosis at an earlier stage?

Rebekah: I think that really comes down to clinical education. So the idea is to start changing the conversation about how Myasthenia gravis gets diagnosed. How it manifests. A lot of material that you’re reading right now is conflicting. So you’ll have anywheres from 70% to 90% will claim, you know, that patients test positive with AChR antibodies. The problem is, first of all, that number is skewed. And it’s dependent a lot of criteria. So it depends on what lab it’s being sent to, when it’s drawn, how it’s drawn. Are they doing all three of the panels? Are they doing just one of the panels? A lot of doctors will do just one, instead of all three. Even neurologists don’t know how to order the basic testing, correctly. Okay, and they don’t know how to move on from that.

Howard: Whose responsibility do you think it is to help to educate the healthcare professionals?

Rebekah: I think it’s gonna be a community effort, if you will, because I think it’s really going to take the knowledge of those who are board certified and skilled. I think those who are involved in research. I think those are who are involved in the pharmaceutical end and those who are in community leadership. Because, you know, each expert, if you will, is going to have something to bring to the table that the other may not have. But I think that if you segment them it’s an incomplete picture. Okay, so if you start talking about strictly the pharmaceutical end but you’re not talking about, you know, patient quality of life and access to treatment, then you’re not getting a full picture and you’re not really going to develop better treatments. And I think better access.

Howard: And in talking about better treatments, is there currently any therapy options that are in the pipeline that appeared to be promising?

Rebekah: Rituxan is kind of the new buzz right now. It’s being used for, it was being used for lymphoma patients in addition to their chemotherapy. And what it does is it tends to shut down some of the B cell proliferation. So the problem is it’s a very harsh drug. It’s extremely expensive. It’s off-label. It’s not indicated for every patient. They’re not given really full information pharmaceutically and they start using it on patients who don’t need it. My grandmother is 93 years old. She stabled her current regimen. They wanted to put her on Rituxan. This is not a benign drug. If you go back and read the pharmaceutical warnings, it’s you know, it’s death can occur in 24 hours at the first infusion. I mean there’s a whole lot of stuff that goes into this. So you know, again, here we see a gap between doctors who don’t really, they just say, oh, Rituxan, it’s beneficial. They start using it regardless if the patient is really viable.

Howard: When launching a drug like Rituxan do you feel that the patient’s voice is being heard and taken into consideration?

Rebekah: Yes and no. I think it depends on the treatment and I think it depends on who is listening. There are physicians. There are pharmaceutical companies who are interested in listening. And you know they are trying to kind of figure out if they’re hitting their marks or not. Obviously, on average, no patients are not being listened to. I think a lot of times this is kind of the pre-marked protocol, loose protocol, and so as well this isn’t working for you. I don’t know if this is for you. Tough cookies. You know regardless of the outcome a lot of drugs or treatment options end up getting pushed that really shouldn’t be pushed. You know, you have a lot of patients who I think don’t know how to ask certain questions, or don’t know what questions to ask, and they end up going to their provider.

Interesting, you know whatever’s kind of coming down the pipeline so to speak. And not really understanding does this physician have the skillset and the experience not only with Myasthenia gravis, with these drugs. These new drugs are coming out to be able to treat me effectively and safely. And so I think that’s where people like myself and others kind of come in and say, okay,
let’s make sure that you’re educated on Rituxan. Let’s make sure you ask the right questions in clinic. Maybe let’s make sure that, you know, you have as much information as possible before you make a choice with your doctor on how to move forward, you know.

Howard: What type of advice do you give to patients that are looking for credible information to help them to make informed decisions on their healthcare?

Rebekah: Are you asking me like where I direct them for information?

Howard: Yes.

Rebekah: Usually myself, and I don’t say that arrogantly. I have on my phone over 600 resources. You know, trial results and thymectomy and you know testing and kind of the anomaly approaches and what mimics MG. And I have everything I could possibly find on the disease stored in my phone.

I also have a lot in my packet. So, and if I don’t have it, I try to, excuse me, track it down, and you know send them to, like you know, some of the medical journals and things like that and they have to have questions. I try to break it down with them and say, okay this is what’s being said. You know, how do you feel this pertains to you? Do you have any questions? Let’s help you formulate questions based on this with your doctor.

Howard: And when it comes to pharmaceutical marketing in general, is that something that is frowned upon by you and others within your community, or is there an understanding that although pharmaceutical companies are here to help people, they also are businesses and they have to market?

Rebekah: I’m actually very much for that. I think that if I can speak with candor, I think that there is a population within the community that likes to scream out against Big Pharma. I don’t believe in a lot of the thinking that goes along with that. I think that all realms have accountability. I don’t care who you are. I don’t care what you do, what industry you’re in, period. I would love to see pharmaceutical companies I think really kind of digging deep into these communities because we need you all.

You know we need the pharmaceutical companies to stand with us, sustain the gap. We really can’t we’re really kind of yelling into the wind, you know, when we don’t have those people standing in the gap with us. Because you know, there’s only so much that we can do as patients, as leadership, you know, in order to enact better care and in order to enact better education. And I think to create a positive partnership, you know, with those that are trying to help us and trying to provide, you know, the tools needed for stability and full remission. So I think that there is a great need. I am open arms about it. Not everybody is, but there are leadership, those in leadership who are seeking that. So I think the need is very much there. I think the interest is very much there.

Howard: That’s wonderful to hear. And you know one of the driving forces behind the series that we’re putting together because we’re in the business of healthcare marketing and we have clients that are pharmaceutical companies, and we really want to gain some insight from you and some and from some other patients on, you know, what we can be doing better and, you know, really find those areas that there’s a void so that we can, you know, we can help to fill those voids.

Rebekah: From what I think the patient company, the patients need versus what companies are providing, a lot of times what ends up happening is whatever literature is dispersed has a tendency to diminish, I think, the nuances of expectations.

So a lot of times expectation versus reality for treatment and what is going to happen with treatment is far different. Versus what you read and what is disseminated versus was actually happening. Which leaves kind of a, you know, disparate patient population. And I think doctors who are kind of, you know, I thought this was going to be different. And so I think in my opinion from what I’ve seen, it would probably be beneficial again to kind of tune into what is really going on when these, you know, drugs or treatments are being utilized.

Howard: Do you use social media to connect with the patient community?

Rebekah: Yes. That is my primary source.

Howard: And that, you know, having that ability to connect with anyone, anywhere, you find that to be helpful?

Rebekah: Yes. About three months ago when I did my statistical analysis for the page, I, at the time, there was forty five countries represented, forty five languages represented. I think over three hundred different communities. So there is an incredibly large international group that kind of comes in and filters in here. In spite of the fact that there is, you know, difference in culture and difference in, you know, approach to treatment there really is kind of a harmonic need for the same kind of level of care and understanding. And so it’s been very powerful.

You know, within seconds I can stream information or knowledge, or you know, share crucial upcoming trials etc, to thousands upon thousands of people in seconds. So the one live stream that I did, I think reached eleven thousand people. When I did the symposium in the conference with the MDA, we partnered together and did a live stream. We reached over seven thousand people worldwide. So, you know, I think that the community is so entrenched on social media because we can’t get out a lot to socialize, so we kind of turn to that, and so it kind of amalgamated into not just coming in for social support, but now coming in for education.

Howard: So the barriers to getting out to socialize are challenges that come along with having the disease or is it just geographic challenges?

Rebekah: No, I think it’s some communities when we have one or two people within their surrounding area. I know people who are going on 20 years without ever meeting another Myasthenia. But more often than not the social aspect comes from quality of life not having the energy or the stamina to stay out or to get ready and then go out. So a lot of times we have to choose between getting ready and showering versus maybe, not, and getting out a little bit. And so you know it inhibits a lot of activity from happening.

Howard: Has there have been any type of social events that were designed specifically for MG patients to come together and spend time together that was modified to meet the needs of an MG patient?

Rebekah: Not that I’m aware of. There are national conferences but unfortunately most of the patients can’t get there because they’re too ill. It’s expensive. The conferences do have fees that are quite hefty at times. I was wanting to partner with organizations that would allow for kind of micro groups, if you will, outside of support group meetings. And just kind of have, you know, get-togethers where it wasn’t about the disease, as much as it was just about the community. So, because my father and I lead the local community here, what we’re going to try to do this fall or hopefully January, February is to do, like a barbecue with food trucks and like a, you know, local bands. And we were very successful when we did this kind of idea for our walk. And we really got a lot of people driving from all over the state coming in for that.

So again trying to foster a sense of community and empowerment and getting together and leaving behind some of the clinical aspects because you need that as a human being.

Howard: Living with MG and how does that affect your family life? How does that affect other loved ones that you’re involved with?

Rebekah: So I live with my family. I moved back in. I was a junior in college when I got sick. I moved back in. And thank God for my family because I wouldn’t be able to function, really. I mean I have Myasthenia gravis, I have eight other diagnoses so I have a full plate, if you will, for that. I don’t have local friends. All my friends are through social media. You know you start canceling plans. You lose friends. People stop asking if you want to go out. Especially when you have to cancel last-minute. You know there’s a huge impact, you know, socially.

You know, I used to go to church all the time. I am lucky to go to bed at 4 o’clock in the morning. So, you know, getting up in the morning, I start functioning around noon. That’s kind of where I start functioning. So there’s definitely an impact. Not to say that I don’t live. Not to say I don’t do things. But, you know, for being 28 I definitely stay in my house a lot. I typically go out to do medical things, so if I have a local patient who needs me that’s when I go out. I go out for my own medical needs and once in awhile I go to Disney and other things just to kind of get my reprieve but and that’s very common. It’s very, very common to see that impact. You know a lot of us don’t leave our homes. You know we talk to each other on social media and that’s really where it kind of stops to start.

Howard: So, with all this knowledge that I’m picking up, it sounds unrealistic to think that many, if any, that have MG actually can hold a full-time job or even hold a part-time job.

Rebekah: That’s true. You know, I will say this as a caveat. What you read if you Google, is not reflective, more often than not, of real criteria. So the patient community, it’s very much a hotbed of enflamed passion when we talk about, you know, they just came out with another article and the American journal Neurology. I talk about, oh, quality of life, no big deal. Okay, and this happens all the time. So a lot of the people are, like, we don’t have quality of life, are you kidding me?

So you know there’s kind of this gap that I’m coming against the tide of saying, this is not true. This is what I’m hearing. This is what I’m seeing. And there are studies that are being done outside of the US, Norway, the Philippines, Spain, I want to say the UK. They have come out with studies, China, that are saying overwhelmingly, I think the study from Norway said, in spite of advancing treatment, in spite of the fact that, you know, more and more pharmaceutical drugs are being developed and there’s more management out there, a hundred percent walked away saying their quality of life still was altered or affected.

So, you know, I think it depends on what you’re looking at. You know as far as the analysis because I say that to you not out of disrespect to anybody, but just to give you an idea, if you start Googling this, just be aware that it’s not reflective of how the majority of us feel. We’re not represented very well on that. So yes, the quality of life is very much an impact and that trickles down into jobs. We’re not very reliable for employers. Some of us can work part-time from home, if we can set our own hours.

Howard: So access definitely seems to be at the top of the list of a priority.

Rebekah: Pretty much so. Access and education.

Howard: All right. Well, thank you so, so much Rebekah. Really appreciate you being so open with your personal experiences and sharing this information.

Rebekah: Anything to help the community.

Howard: Yeah, thank you.

Rebekah: It’s been a pleasure getting to know you and talk to you. Thank you for listening.

Howard: No, my pleasure. If there’s anything we could ever do for you, feel free to reach out.

Rebekah: I will certainly do it. Thank you, sir. You have a wonderful day.