A Patient’s Voice: Understanding Gaucher Disease through Leanna

Howard: As a starting point can you tell me a little bit about your journey when you were first diagnosed?

Leanna: Sure. I actually had symptoms probably from about age three, or two or three years old. My teeth were just starting to grow in as a toddler. And the, my bones, my teeth were so brittle that when the dentist went to try to correct the issues that they were having, my front teeth actually fell apart. I had no front teeth until I was about eight or nine years old because I just I had nothing there. But that was pretty much it. Other than I did have almost like a morning sickness type of issue where I would get up in the middle night and vomit for several, or not for several hours.

But that was actually because my spleen and liver were enlarged and kind of crushing my stomach as I slept. So the pressure on it would cause that. But I got blood work done to have this, you know, outpatient procedure and I had an unusual blood work, so that led to more specialists. And in the long run and from that point of being 12 until about 15 years old, I’ve seen several different specialists for things that they couldn’t figure out. Actually was leaning more and more towards leukemia. And then the last ditch effort to make sure it wasn’t leukemia was a bone marrow biopsy. And that’s when they found that I had this rare genetic disorder which was nowhere in my family. Up until that, essentially that was what did it.

Howard: So it wasn’t until you were about 12 years old that you were actually diagnosed?

Leanna: I was actually 15.

Howard: Fifteen.

Leanna: It was about two and a half or so years before they actually became able to come to, like a real conclusion, of what it was.

Howard: And how was that for you growing up knowing that something was wrong with you, but not knowing exactly what?

Leanna: I mean, as when I was very young and having these vomiting episodes, I know for my mother it was, it was a tough time because, it’s like, I know something’s not right, but they’re, you know, because maybe she’ll grow out of it, or you know. But as I got into my early teens and I still didn’t know what it was, I was just getting to the point of like, I just wish I’d figure it out. Like even if it was like a worst case, you know, like they were saying leukemia scenario, like at least it’d be something that they can start treating it or know how to deal with it. But until then it was like in this weird like wading pool of, you know, it could be nothing, you could be really bad, like it, just, I think some of it was almost worse by not knowing until I actually, you know, what it was and can deal with it.

Howard: You actually recall the moment when you learned that it was Gaucher disease that you had?

Leanna: I did. I got a phone call from, well, not me specifically, my mother, but I got a phone call from a pediatric hematologist and oncologist. And I do recall at that point that if you’re not going to go with Gaucher, there’s three different types of Gaucher. And my genetic makeup essentially, I have the traits of 1 and 3. Two being in the middle, you don’t live past two or three years old. But Type 1 is you’re generally normal. I mean, don’t you have some, you know, health issues as you get older, but with treatment you’ll be okay. Where Type 3 is also, adds a neurological element as well. So it’s progressive, but also you can be like an Einstein and over the last two or three years of your life. You become more and more mentally retarded essentially until it kills you.

It does vary from person to person now that I’m aware enough to know the difference. But being, you know, 14, 15, in the years of the internet and Googling what I have either Type 1 or Type 3 and I don’t know which one I have yet, was a very, very scary time. It’s about two or three weeks before they found out. So you know, I think again it was, oh, oh, all right, well, which one is it? How do I deal with it, kind of weird limbo I was in? I do have a worst case of Type 1 but I am NOT a Type 3.

Howard: And as far as the therapeutic treatment, what type of therapeutic treatment are you currently going through?

Leanna: Right now I receive an infusion every two weeks of Cerezyme, which is a drug from Genzyme. Both the IV treatment, there’s also now in the last two years, they came out with an FDA-approved oral medication as well.

Howard: And from the standpoint of support provided by the pharmaceutical company, do you feel that you’re engaged with the pharmaceutical company and do you feel that they provide you the right level of support to help you through your day-to-day routines?

Leanna: Specifically with Genzyme I’ve had a really, really great relationship with them where my caseworker and I are more than just on a first-name basis. I mean they’ve, I don’t know how to describe it, there. I’ve spent hours on the phone with my caseworkers as far as coordinating health insurance coverage. When I can’t get in touch with my doctor, because I’ve had different doctors over the years, they will do what they need to do, go around and get a hold of them.

They also do, I would say, I know it’s more regularly than what I attend, but I want to say, once or twice a year, they try to have a patient get-together in my area. Like a, like a radius area. It’s usually, they’ll have a dinner and just invite patients, either other Gaucher patients or maybe similar diseases that they happen to treat as well. And we meet up with the caseworkers, we meet up with the education liaison sometimes, I’m not exactly sure that’s the right title or not. But there’s usually a team of four or five pharmaceutical representatives there at the meeting to either, you can be as informal as, just, you know, get sitting down, eating dinner, find out how your family is, kind of casual, too. Sometimes they do bring in specialists or other professional health professionals, to, you know, say what kind of things they’re working on, with what new discoveries they have with the genetic disorder. And it doesn’t, it’s not sales pitchy. It’s like they’re there if you have questions, but it’s more like we’re really here to support you and I really value that from that company.

Howard: That’s wonderful, that’s wonderful. And from your personal experiences is it helpful for you to have that chance to interact with other patients that are experiencing similar challenges?

Leanna: Oh yeah, and because I was the age I was when I was diagnosed, I’ve seen a lot of younger people. I mean now it’s a prenatal test. Some people do find out before the child’s even born. But in other cases, they do find out when they’re maybe toddler, kindergarten age. And for a lot of parents especially who do not have the genetic familiarity, even though it is genetic disorder, you know. When they find out their kid has, and they went through the same thing I had just gone through, I think it’s nice for them to see that I’m normal and it’s okay.

So I like being that support to them but also it’s nice to see other adults that have that network of like, you know, oh you know what, what’s your what’s your genotype, you know, like kinda it’s a nice little community, especially the community, the Gaucher community I found, from talking to other rare disease patients. We’re a really tight-knit group.

Howard: That’s wonderful to hear. So from the standpoint of diagnosis in today’s time it sounds like perhaps the diagnosis is happening earlier than when you were.

Leanna: I think so, I mean, especially it is generally known to be an Ashkenazi Jewish disorder. But I’m not as far as we know, Jewish heritage. My parents are both Italian. I mean, of course, somewhere back there they could have been. But, so, I think it was longer for me, but I do know especially in the Jewish community that they have the prenatal testing to find out ahead of time.

Howard: And from the standpoint of providing resources and support to newly diagnosed patients, what recommendations would you have to a pharmaceutical marketer in regard to what would be helpful to provide to a patient during the diagnosis stage?

Leanna: I remember very early on that I spoke with my caseworker, that I spoke with, again, you’ll have to forgive me, I don’t really know his title, but essentially he was like a liaison between the pharmaceutical and the doctor.

But then he would, like, educate them more on the drug like he had a medical background. And they were just super personable, like, hey, you know, can we do anything for you? This is, you know, this is what the drug is like. And a lot of follow up, like it was I really think that that first couple of weeks of meeting me in person, coming to my first treatment, you know, they now have a mentorship kind of program for other patients who are also on the drug that they’ll connect you with people in the same boat as you. So it’s like, hey, if you do want to talk to someone, you know we have patients who are familiar and can tell you what their side effects are like.

So I really think it’s if you capture their attention and you follow up with that interest in the first few weeks then I know for me I would have to think long and hard about switching medications to pharmacies because of that experience.

Howard: And as far as connecting with other patients, so is there any type of online communities that you’re involved in and is, you know, technology today being used to help you to connect with other patients or to help to just bring together patients that are all going through the same type of challenges?

Leanna: Absolutely. I’m most active in our, there’s a Gaucher Facebook group, which is a closed group. I want to say, we’re at about 1,200 members internationally. I know there’s also a Yahoo chat. I think that was around prior to the Facebook group but I’m not quite as active on there. And I know the National Gaucher Foundation is the biggest one. They also have a website. They do a couple meetings every year. You know, they’ll try to pick different places across the country and they also have a Facebook group as well. So it’s a combination of everything.

Howard: That’s wonderful. So from the standpoint of patient advocacy groups, it sounds like you’re involved in some patient advocacy groups. What can pharmaceutical marketers do to work with patient advocacy groups to better connect with their patient?

Leanna: I was involved with a crowdsourcing project last winter where there was, like, a third party group who was working on behalf of the pharmaceutical drug company, to have me reach out to these groups that I, because I have a direct connection, and for me, I’m, I don’t want to say the most famous of the Gaucher people, because that’s not really accurate, but I’m probably in the top five.

And I also, I do patient speaking engagements for, on behalf of the drug company as well. So a lot of people are familiar with me, or seen I have like a YouTube video with like thirty thousand views or something like that. So coming in with that kind of relationship with the community I think helped get the information like a little bit more casually than the actual pharmaceutical would have been able to. They feel like they can trust me and doing that, and then I can turn around and you know have them do any kind of survey or things that they think would be helpful to others in the community.

Howard: What about any type of patient hubs or resources that are provided by Genzyme or other pharmaceutical companies that you’re aware of?

Leanna: As far as actual hub, I’m pretty sure Genzyme has one I’m just not thinking of it all the time in my head. I know that their more direct push is having us do these, like, patient meetings that, or sometimes we’ll do a, like a webinar kind of thing, like when Genzyme came up with the new medication, that they had a couple people who were on the medication and they set up a live chat that people were able to log in and kind of see them face to face virtually as best they could.

And when I’ve done the presentations I have anywhere between a small group of five to maybe about 20. And keeping in mind Gaucher being as rare as it is, like, that’s actually a really good turnout. And I think again it adds another intimacy level because of the, there it’s not, a you know, well, we don’t defer from the fact that it, you know, I am a Genzyme Cerezyme patient. It’s not the focus of the connection. It’s more, you know, if you have a question, there’s people who can answer those questions but really let me just hear your story. And I think that that relationship is what keeps them engaged.

Howard: And how about the professional associations for rare diseases like the National Organization of Rare Disease? Is that an organization that you’re involved in?

Leanna: I had a joint interview with them at one point. NORD, when the Orphan Drug Act was having, celebrating some big anniversary, I want to say, it was like 30th anniversary or something like that. We were featured on a PBS special, like in conjunction, but not that I was with them or they were, you know, it was more like they just try to feature us.

I know I attended the rare disease legislation group that they hold it there with EveryLife foundation, I believe. They put together once a year, a big Congressional Caucus of people from across the country. I think, oh, we had about 300 people this year represent all different rare diseases, and I mean when I say all different, like I was the only Gaucher patient. I don’t think there was any other place there, sorry, there were two, but they were the Type 2 version of Gaucher, not Type 1.

And they set up all these meetings with congressmen to just, kind of, you know, put out the bullet points of what’s important in healthcare for patients like us. And I know that the EveryLife is involved with that. Also Global Genes is pretty big with that. They invited the same group of 300 out to NIH. I didn’t participate in that day because, I, my work schedule really couldn’t do both, but they seem to be a good center point of access to lots of people with that same goal.

Howard: Thank you, thank you for sharing that. Great insight. That is helpful for us. As far as areas that you think that there might be a void, are there certain areas that you think more support could be provided whether it be by a pharmaceutical company or by another healthcare organization within the community?

Leanna: I think it’s gotten a little better but I think one place that there’s still a lot of space to fill would be like doctor professional development if that’s a thing. I don’t really know if they call it that but that’s what we call it here. That like just to educate them on signs and symptoms of what some of the more, maybe more common rare diseases are especially if they are specialists in that, would come across that just for earlier diagnosis. It would help the patients a lot.

And then also again just to catch the patient when they finally do get that diagnosis to give them correct and accurate information as soon as possible. Because again, when I Googled what Gaucher was I spelled it wrong. I don’t know I was looking at Wikipedia first, and then I was looking at all the horror stories, second. And I think if you are able to intervene with correct information and come across like a valid source that they’re going to come back to that for future information.

Howard: From your perspective should it be, do you believe that it should be the role of the pharmaceutical company to help to build awareness among the professional community so that healthcare professionals know the signs and symptoms of disease like Gaucher disease and can diagnose earlier?

Leanna: I think it’s hard to say is it the responsibility of, because, I mean frankly, no. But I think that it’s incredibly helpful for the community overall if they were to step up to the plate with that. Especially I mean, let’s be honest, if you build that relationship with the doctors and the patients it’s only going to make sense for the pharmaceutical that, well, you know, they provide this information. They know this much about the disease. I think that they’re going to, you know, have the patient’s best interests in mind when they’re selling the drug. So, I just think it makes sense not that it’s required, but logic.

Howard: It’s great to hear that you have such a positive experience working with a company like Genzyme. Without naming any specific companies, has there been any bad experiences that you have had through interacting with pharmaceutical companies or members of pharmaceutical companies?

Leanna: I was only ever with one other company for a short period time. It was nothing against what they had done or not done. It was just I wasn’t good match treatment-wise. But they were very lockstep with Genzyme as far as, you know, reaching out, attending my first infusion, making a phone call the next day to see how I was doing. You know, I don’t think it was anything where they fell short. It was just that matter that it wasn’t a great fit.

Howard: Are there any issues or complications that you have had from the standpoint of insurance coverage and co-pays and access to the medication?

Leanna: My husband shows the insurance that he had or we actually got married sooner because of the insurance he had when my parents had. I was transferring from one college to another and in doing that the insurance company saw the opportunity to drop me because they didn’t think I was no a longer a college student even though it’s just going from community college to a four-year school. And it was very difficult to get back on the horse with the insurance company.

So my husband and I, even though we were planning to get married anyway, we just did it sooner than later. I now get insurance from working for the school district and I’ve never had any kind of issue. They do follow up and they ask if it’s really medically necessary once in a while. But you know that as far as getting covered, I have never gotten a bill that I had to worry about.

Howard: What type of advice would you give to a newly diagnosed patient and/or their caretaker?

Leanna: I really think it’s just important to find accurate information and trust the sources that you’re getting your information from. Because, you know, for me it worked out that my diagnosis turned the way it did. But you don’t want to surround yourself with negativity especially if you really don’t know what your diagnosis is gonna pan out to mean. So just find accurate information first and also seek out whatever national organization or regional organization that will support you. Because if you know they can connect you with other patients who are going to be able to give you the answers that maybe the doctors the pharmaceuticals can’t.

Howard: And from the perspective of a patient do you find the information to be provided by a pharmaceutical company to be credible and accurate?

Leanna: Yes. I know that Genzyme specifically for Gaucher does have a full website that breaks down the enzyme that I’m missing. And some of it’s a little over the average person’s head. I think the terminology. I think maybe if I were to give them any kind of criticism they could may be dumb it down a little for the audience. But that would be, as far as credibility though, I think that their information’s completely accurate.

Howard: Well, I have to say it’s very admirable to see somebody so positive and upbeat and, you know, overcome some of the challenges. And, you know, not everyone would have such a positive attitude and outlook on life. Is there any general, I guess, advice that you can give just in regard to how you stay so positive and deal with what you deal with on a regular basis battling a rare disease?

Leanna: I think it’s important to add that I’ve had good days and bad days. And of course right now, you know, I’m going through a great spell. I’ve had periods where I’ve had to be in a wheelchair for an extended period of time. So there’s always, there’s dips. But for me, I try to remember that everybody’s going through something. So, you know, what is a bad day to you because of your health? There’s people with bad days for health or other reasons.

And, you know, it’s only going to hurt your quality of life to sit there and linger in that kind of attitude. It’s, you know, you’re still the creator of what your own, you know, personality and how you surround yourself with people. So, if you don’t want to hang out with yourself, why would you want to hang out with anybody else? They’re not gonna want to hang out with you. So yeah, I think it’s just important to keep that mindset and remember you know you can be inspiration, somebody else’s going through a bad time, too.

Howard: Awesome. Is there any other just general insight that you would have that would be helpful to a pharmaceutical marketer as far as the dos and don’ts to truly helping patients and, you know, not offending patients?

Leanna: I definitely think from that recent experience I have had with the crowdsourcing project that had a really positive. It was well received by at least the Gaucher community. Because it showed that for one that the pharmaceutical company, who was pharmaceutical, who was third party, who was me, did spent the time to seek out someone who actually would be able to communicate back and forth to the community.

But also I think that anytime a pharmaceutical company’s interested in reaching out to those groups to spend the time to actually reach those groups and find them on Facebook or find them, you know, wherever that that mutual without offending HIPAA laws, that kind of thing. You know, I think that if they’re willing to engage and find out what like this sort of is, you know. I think that that resonates well that you’re caring more about the patient not necessarily the dollar side to come with the patient.

Howard: And from the standpoint of testimonials from other patients. Is that something that is valued?

Leanna: Yes. I, on my own, because I happen to like data a lot. I conducted my own survey separate from the ones that were provided by the pharmaceutical. To state, you know, if I were to come across other opportunities like this are you interested in providing more? And it really, the feedback I got was anything that can help make it easier for someone else to transition with diagnosis or consider one drug over the other. Like if my opinion is valued to help someone else then I’m all about it. And that’s what I got from everyone who participated in the study.

Howard: And how about apps? Are there any types of apps that you have found to be helpful?

Leanna: I’m currently involved with an app called ZOOM.ME Live. They’re working, they’re still a relatively new company. But they are working on rare diseases but also just general lifestyle health and fitness. It’s a Livestream app, so like a patient expert or adopter can get on and broadcast to patients or whoever’s interested in that content. And there’s the ability to ask questions live while the person’s speaking. Or you can watch it later on YouTube and contact them. But I know that that’s a growing app and they’re moving toward also having the same capabilities with Facebook and YouTube Live. So that’s one that I know the Gaucher community’s starting to become familiar with.

Howard: And I believe that you indicated in your in your bio that you do speaking engagements.

Leanna: Mm-hmm.

Howard: So you speak to other patients?

Leanna: I’ve done it for patients and I’ve also done it when Genzyme opened up a, I don’t know what you’d really call their off-site, but essentially they were growing, they’re harvesting the actual production process. They ended up making a, subcontracting it out to another company. And they had me come in to basically say that, you know, we appreciate and value the time that you’re spending on helping with the production. So that was about 300 people who were directly involved with the manufacturing of the drug. So, it’s been a mix of, not pharmaceuticals, doctors, and patients, and people who are involved in the production.

Howard: Is there anything in closing that you’d like to add or any questions that you have?

Leanna: I’m, the more I’ve met rare disease patients over the last year especially, they really just want to help and get more information out there about their conditions, so, you know. I hope you’ll continue to do more of these, just to not spread the word about rare diseases, but show that the pharmacies and doctors and anyone in the healthcare industry are interested in learning more about them.

Howard: But again, thank you so much and again, really appreciate this.

Leanna:  Sure, anytime. Thanks, Howard. Have a great afternoon.

Howard: All right, you too, Leanna, take care.

Hearing Leanna’s story validates the need to establish an open line of communication with patients. I’m Howard Klein, President of Lanmark360, and I look forward to seeing you on the next episode of “A Patient’s Voice.”