Dawn Laney, MS, CGC, CCRC

Genetic Counselor, Division of Medical Genetics

Program Leader, Lysosomal Storage Disease Center

Emory University School of Medicine

Disclosures

Consulting agreements: Amicus Therapeutics, Chiesi, Sanofi

Member: North American and International Fabry Registry Boards

Staci Kallish, DO

Associate Professor of Clinical Medicine

Division of Translational Medicine and Human Genetics

Perelman School of Medicine, University of Pennsylvania

Disclosures

Research grants: ashibio, Astellas Pharma,  , Amicus Therapeutics 

Idorsia Therapeutics, Incyte , Ipsen, and Sanofi 

Consulting: Amicus Therapeutics, Sanofi

Advisory board: Amicus Therapeutics, Intrabio, Sanofi

Speaking honoraria: Amicus Therapeutics, Astellas, Sanofi

Learning Objectives

Upon completion of this program, participants will be able to: 

• Recognize the real-world burdens facing Fabry patients and implement strategies to alleviate them.
• Identify and overcome barriers to managing heart concerns in patients with Fabry disease. 
• Identify and overcome barriers to managing kidney concerns in patients with Fabry disease.
• Orchestrate a cohesive, multidisciplinary team approach to care.

Dawn Laney, MS, CGC, CCRC Genetic Counselor, Division of Medical Genetics, Program Leader, Lysosomal Storage Disease Center, Emory University School of Medicine

Staci Kallish, DO Associate Professor of Clinical Medicine, Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania

Introduction

Staci Kallish: Okay. I’m Staci Kallish. I’m a medical geneticist at the University of Pennsylvania in Philadelphia. And today we are responding to real world concerns from patients with Fabry disease.

Dawn Laney: Hi, I’m Dawn Laney. I’m a genetic counselor and associate professor at Emory University in Atlanta, Georgia. And I am able to focus mostly on Fabry disease in my practice between clinical and research. And much like Staci, I’m here today to talk about real world conditions and what we think about them.

Q1 What symptoms should be better managed by your medical team?

Patient: Pain is a symptom that needs to be managed properly and isn’t always managed properly. Some of the ways we manage it for other diseases and other conditions aren’t as applicable, and some of the ways have to change for ways that we can manage pain with Fabry disease. It’s a long road to hoe with Fabry disease and pain and it’s chronic and it comes and it stays and then it goes and it comes back and it stays. Fatigue is a hard one to manage too. And I kind of put that in sort of the same bucket as pain because it’s hard to manage. It’s a chronic thing on the long-term, it doesn’t show up very well on tests.

Patient: Doctors still haven’t figured out what exactly is the root cause of the different symptoms that I’m experiencing. So as far as the symptoms that I’ve not been well managed, my migraines, my poor memory, confusion, hearing loss. For hearing, I’ve had audio tests done. I was told that I passed with flying colors, but I struggle. And I was told that it might be more of the way the brain transmits the information, it may not be an actual audio issue.

Patient: Nerve pain. Nerve pain is what kills me. I’m taking a lot of medication, but I think especially when I’m stressed and everything, it’s unbearable.

Patient: Probably the headaches. The tingling of the hands and feet is one of the worst ones for me, but I don’t know that there’s anything they can or will do.

Staci Kallish: We know that the concerns that we’ve just heard and the experiences are really more the exception rather than the rule. Some of the recent medical literature, including some by my colleague Dawn here, shows us that most patients with Fabry disease experience pain, whether it’s neuropathic pain, abdominal pain, headaches, generalized pain, and that this is the experience even for people who are treated for their Fabry disease, so the answer needs to be more than just Fabry specific therapy. And so one of the things that we need to do is really look at other options for treating their pain.

Dawn Laney: Yeah, it’s so true. And Staci’s really highlighting some of the really important pieces which there’s lots of different type of pain in Fabry disease and you can’t treat all with one thing. Abdominal pain, which can be really excruciating and last over two hours and keep you from doing anything else in your life, maybe that’s addressed by one medication while other pains like the burning, tingling pain and the numbness, that might be addressed by another one. And when you look at the medications, there’s different types of medications you can take for each of those pains, but you can’t take them all together. And so sometimes you’ve got to prioritize what is most important for us.

And as she mentioned, when we think about the one primary therapy for Fabry disease, you’re like, surely that should take care of all of them. And unless you took it before you had that pain, I’m sad to say you need more. You need what we call adjunctive therapy. But I think the first thing is really learning which type of pain is giving the most problems right now, and if there are any medications we can do to address both of them.

I think one of the other important things that needs to be brought up is often there’s depression and anxiety that goes along with the pain and that can make the experience even worse. And that also leads into the fatigue part of things. So you look at stress of having a chronic disease, you look at the stress of not knowing when pain might impact you again, and then you add in just the mental fatigue of going through that over and over and over again and then worsening your pain on top of it.

And it takes a village, right? We always say, “Well, maybe pain clinic’s going to be the answer.” Sometimes pain clinic doesn’t have the expertise to think about it in a certain way. So end up talking to somebody who’s a specialist in Fabry disease who can be like, “Well, maybe we need to think about this small fiber medication that tends to work better than this one.” But you can’t get that everywhere.

Staci Kallish: We also know that helping patients identify specific triggers for their pains can be helpful. Some of the triggers we can help them avoid. So many patients with Fabry disease are heat intolerant and exposure to heat can trigger neuropathic pain or headaches and sometimes can be avoided, although we obviously can’t control the weather.

Other people are triggered by weather specifically, stormy weather we can’t control. Stress certainly increases many types of pain in people with Fabry disease and some types of stress we can help manage and some types are out of our control. And so helping patients identify specific triggers and controlling those that we can is certainly one area where we can be helpful. Some of the other concerns we heard here about brain fog and memory concerns, these are really understudied in Fabry disease, but we know from, I know, and I’m sure Dawn does as well from speaking with many patients that they’re very common. And so these are areas where we need to do more research to understand what is contributing and how to best improve those.

Dawn Laney: And part of it that we’re learning more about is related to sleep. So we add another specialist in there because the better people sleep that it can also help with pain, that can help with stress, that can help with just general functioning. And so I feel like sometimes we’re trying to give patients with Fabry disease this whole buffet of things that need to happen, and it can be hard sometimes to find someone who can help you work through that.

So I think going to some of these advocacy meetings where you get to meet people who specialize in different parts of Fabry disease and learning who in your area might be most likely to help you with them. I feel like people who live in big cities sometimes are fortunate, they’ve got somebody who works a lot with Fabry patients, but sometimes you may need to do a little travel to get what you need and then your local people can help from there. And it sounds like a lot to put on somebody to be their own advocate and be empowering themselves. But unfortunately in Fabry, you kind of need to be able to do that. And the way that you do that is by hopefully coming to programs like this and learn that there are ways that we can help you try address underlying problems and then build a team from there.

Staci Kallish: I think one of the most challenging pieces of the pain puzzle for patients with Fabry disease is that they often look well. And we know that for anyone who has headache or neuropathic pain, but for patients with Fabry disease who are dealing with all of these many types of pain, it may not be apparent both to their physicians who are not experienced with Fabry disease, to their family members who aren’t experienced with Fabry disease, to their employers, the people in their community who they’re interacting with on a day-to-day basis. So that can really increase the feelings of isolation and frustration with trying to manage all this pain.

Dawn Laney: Yeah. I’ve noticed in some airports they have lanyards you can put around your neck that identifies you as somebody who’s got a disability that may not be visible. I almost feel like in our regular life we need one of those too. But even that saying it doesn’t give people a good impression of what’s really going on. I mean, I’ve had patients tell me that one of the hardest things is you can’t plan out your life because you don’t know what day’s going to be a bad day with pain or extra fatigue and others are going to be good days. And if you have a good day, then you push yourself so hard that then a bad day comes right after it. So you may make all these plans that you then have to cancel. So then it just psychologically takes a toll on what’s happening with you, then cycles back into problems with sleep and fatigue and pain. And so I think we have to look at every patient as a total package and just try to unravel one piece at a time to make quality of life better.

Staci Kallish: And we know for people with chronic pain, as Dawn is saying, good days versus bad days may be different for them than they are for people who aren’t living with pain. So I very often meet patients who come in for their visit maybe in the summer and I ask them how they’re doing and they say that they’re doing fine. And then I say, “Well, we had a heat wave last week. How was that for you?” And they say, “Oh, well, that was really awful and I couldn’t do any of the things that I wanted to do because even leaving the house was nearly impossible.” And so we also have to get better at asking patients specific questions and really encouraging them to share with us what’s going on because their baseline often involves many types of pain and that’s where they’re starting from. So if we don’t ask about that, their fine may not actually be fine.

Dawn Laney: Yeah, fine is rarely fine, I’ve found in life and with patients with Fabry disease. I do have one little window of help though, I did a longitudinal study that looked at kids who were diagnosed near birth or within the first three years of life and checked out how their pain changed over time. And if a child has pain just intermittently and they start enzyme replacement therapy, it seems to keep them from having the long life pain that we see in people who start treatment later. Does it take it away entirely? No, not if they started enzyme and already have pain, but I’ve had people who are 20 sitting in front of me who started therapy, enzyme replacement therapy when they were under 10 and they say, “What’s a pain crisis?”

And so that would be my goal for everybody with Fabry disease to look at me with blank eyes and tell me they have no idea what I mean, did they have an episode of excruciating pain? And we’re getting to that point. I’m getting less and less report of those pain crises that just travel up your legs and they’re so sensitive that even a sheet can’t be on you and you feel like your pain is, when you talk about a scale from 1 to 10 is off the charts, it’s a 15, it’s a 20, and they go to the emergency room and try to get care. I think we’re moving away from that, but now we have to focus our attention on this daily chronic horrible pains that still continue even if it’s not a pain crisis.

Q2: Is the risk of stroke or heart failure being properly managed by your medical team?

Patient: It takes finding the right doctors, definitely. The run-of-the-mill first referral to a cardiac team is generally going to look at an echo or an EKG and basically say, like I had one tell me, “Congratulations, Wes, you have no Fabry disease in your heart,” which is not only a total misunderstanding of the disease pathology, but is also wrong. Sudden cardiac death is the leading cause of death in Fabry disease. So you have to find the right person who is interested in a case and not just wants to get onto the next client.

Patient: But I haven’t seen my cardiologist in quite some time. I can’t remember how long it’s been. So it’s not a concern for me, but I know the risk is there.

Patient: Yes, they are monitoring. I have a loop recorder. My neurologist, she really went and studied everything about Fabry. I feel very safe with her. Same thing with my cardiologists. They really learned about it. So with them, I’m very happy, but there are other doctors that… Yeah.

Staci Kallish: There’s really no data on outcomes for patients who are seeing providers who are experienced with Fabry disease versus who are seeing more local or community physicians and healthcare providers. I actually think it would be a really great study to do, but it seems to make sense that patients who are able to see providers who have experience with Fabry disease really get better care by seeing someone who understands their rare disease. We know though that this is just not an option for everybody because of geographical and insurance and other limitations.

One model we use at our center, and I would imagine is similar to what Dawn is doing at Emory, is we may have patients come to our center just to see one key specialist. Often it’s genetics because we tend to be the quarterback of all of the other care, and that allows us to talk with patients about their bodies, universally, all of their body systems, and then also be key communicators with their local cardiologists or other specialists. This can help them get the kind of care that they need so that we’re not hearing from patients that, “Oh, my doctor said I don’t need another echocardiogram because my last one was normal,” or, “My doctor doesn’t know why I would need a cardiac MRI,” or, “I’ve never had a Holter monitor.” So we can help make those recommendations and help local providers implement them to allow for better care for patients.

Dawn Laney: And I feel like sometimes your local doctors are so interested and invested, and that’s the doctors you’re looking for, not somebody who knows all about Fabry disease, but somebody who’s willing to learn and is willing to work with someone like a geneticist who knows a lot about Fabry disease.

Because we’ll say things like, “Yeah, I know that in an average patient, it’s not time for a pacemaker or defibrillator internally implanted, but this is not going to improve. So if we do it now and it can give a better quality of life with fatigue because the bradycardia is getting pretty significant, it might be a good idea.” So we’re not ordering around the other doctors, but we’re just making suggestions based on what we know about Fabry disease.

And if you’ve got a doctor who is comfortable interacting in that manner, then they usually will do it because we’ll give background, we’ll give information, we’ll say, “This is why we care,” and that can really make a big difference, particularly if some local doctors will see multiple family members, and that can be really valuable because what you’re talking to one doctor about can translate to everybody else who’s got a patient in that area who often you’re related to.

Staci Kallish: Yeah, and I find that this can be especially helpful in patients who are early in their disease process or presymptomatic, especially females who may be at risk for cardiac disease especially, but may not have symptoms at the time. And often we hear from their local providers that their echocardiograms look normal, and so there’s no concern for Fabry disease. And we know that if we do something like a cardiac MRI, we may find signs of storage. And so those kinds of communications can help local providers understand why we’re recommending these tests and help patients access the best care.

Dawn Laney: Yeah, and we are still learning. We learn more information about Fabry and the heart every day. I mean, I think the biggest thing we’ve been learning over the past couple years is that it’s inflammation as much as it’s storage that is impacting Fabry in the heart, and that inflammation impacts the rhythm and it impacts the structure of the heart. So when you hear somebody say, “Oh, your ejection fraction is great,” we know in Fabry it’s going to be great for a really long time when there’s things affecting the rhythm and infecting the diastolic dysfunction of the heart.

So you got to put the pieces together in a way that makes sense than what they might be used to following in other types of heart disease. I love having a good local physician who is excited about taking care of a patient with Fabry disease, and I enjoy working with them and I enjoy learning from what they tell me because they may say, “Well, here’s what I read,” and I said, “Yes, that was a great article, but now we’ve learned more over the past couple of years and here’s our newest article.” So I think it’s a collaborative process, and as Staci said, sometimes going somewhere where you’ve got that one quarterback who can help manage all your local physicians or even your specialists in the same area can make a big difference in outcomes.

Q3: Is the risk of kidney failure being properly managed by your medical team?

Patient: Risk of kidney failure is one of the bright spots that is being managed properly, simply because the oldest literature and books that might have a little bit of a paragraph or half a page on Fabry disease does mention the kidneys.

Patient: First, it started with me getting kidney stones at the end of 2024. I couldn’t pass them. I ended up having surgery on December 31st, 2024. So I go for my follow-up beginning of 2025 with a urologist. She tells me that I have kidney disease and that I need to go see a nephrologist. So I see a nephrologist and one of the first things you do when you see a new doctor is you share your medical history, you share the medications that you’re on, and my medical history, a big thing is Fabry disease, and so I share that with him.

I do remember that he’s heard of it, but he had to look it up. I remember him looking it up on his phone and we discussed it a little bit, and then he put me on potassium citrate. We did a follow-up, and then at some point he advised me that my kidney disease was probably due to Fabry. At that point, we had not addressed root causes from medication, which is still unclear whether that is in fact what is causing the kidney disease and the kidney stones.

Fast-forward to the end of 2025, I get kidney stones again. I have surgery again. It’s not successful. I have a second surgery within 10 days, and then I have a follow-up. And I don’t remember who brought this up. It might’ve been the nurse practitioner I see for psychiatry. I think it was him. I was told that Trokendi is known to cause kidney stones, and even though the doctors had had my entire list of medications, it was never brought up, and I didn’t know anything about it. I’ve been on this medication for almost 10 years, and so we took me off of that medication. Getting off of that medication has made me really sick. I’m still sick to this day. It’s been almost a year of being off of that medication. And I just saw my urologist recently, and she didn’t like my levels, and so she doubled my dosage for the potassium citrate, and she wants to see me in another three months. And so the saga continues, gray area. I don’t know at this point if it’s the medication, if it’s my Fabry, that remains to be seen.

Patient:

I had to teach him how to handle me after some of the conferences, because he told me, “Oh, you don’t have high blood pressure, you don’t have high creatinine, so if any of that changes, you look for me again.” Then I went back after I saw him, and I went to one conference, and I saw one nephrologist, and I asked him questions, and I showed him my tests, and I showed him my biopsy. He gave me some advice, and I went back to this nephrologist because I couldn’t find another, and I told him what to do, and he’s doing what I told. I see him every year, but I do the tests every six months.

Patient: 26 years ago when I was diagnosed, I went with my doctor, and he suggested getting some tests done. My dad had it, so I was the only daughter he had, so I was the only one that could have it. They referred me to a nephrologist who basically said, “You’re a woman, you’re a carrier, I don’t want to see you.” Since then, I found out that through the geneticist at Mayo Clinic, that our mutation is more kidney involved than heart.

Staci Kallish: In response to the questions about the kidneys, I would say another common concern we hear is that for patients who have a rare disease like Fabry disease, one of two things happens. Either all of their health concerns are chalked up to their Fabry disease, and they’re told that, “Everything is because of Fabry disease, and there’s no need to look into other concerns, and that their Fabry-specific therapy is the treatment of choice,” or they’re told that “They don’t have any signs of Fabry disease, and there’s nothing to be concerned about here.”

So this is sort of like we heard from this female patient who’s concerned about her kidneys, but her physician’s telling her that her kidneys look normal and she’s not at risk for kidney failure, when we know that for even females with Fabry disease, that risk is there, and so she needs to be treated than another seemingly healthy female who has normal kidney function at whatever age. And so really finding that balance between knowing which features are due to Fabry disease, what patients are at risk for with Fabry disease, and also remembering that even people with rare diseases can have other health concerns that need to be worked up appropriately, that’s really important.

Dawn Laney: Absolutely. I mean, you would be surprised how many people have two things going on in their kidney at the same time when you hear about kidney stones, not usually Fabry-related, but does appear in patients with Fabry. So you’ve got to think about what actually happens with Fabry disease because it’s caused by Fabry and what’s happening in somebody with Fabry disease, whether it’s the kidney, whether it’s the heart.

One of the things that I found so interesting with kidney progression recently is that the data coming in on a new class, not new, but newer class of medications being worked on in diabetes, they’re called SGLT2 inhibitors, and they help the kidney and the heart. I feel like in the beginning, the heart doctors were prescribing it more, and now the kidney doctors are getting on board, and what a great thing for Fabry to have somebody who can think about the heart and the kidney and medications that could help the both of them.

But the kidney doctor may be like, “Oh, I don’t know if we should give them this because the cardiologist hasn’t weighed in,” and they go back and forth. Sometimes they just need somebody in the middle to say, “New article, new theory, let’s think about this,” and kind of give some real experience because once they’ve seen what a different medication can do to help the kidney and help the heart, then they’re more likely to prescribe it for more Fabry patients.

I think it’s particularly important as we look at new medications that are coming through all the time. In the past, we had a really strong message that you have to take an ACE inhibitor, an ARB to lower your protein to help the kidney and the heart, and now we’re like, “Well, that’s good, but also maybe we need to consider this other class of medications.” And as we learn, there may be a third medication we need to think about, and then we need to think about how they interact.

So looking back at kidneys, there’s just some basic education that nephrologists sometimes need related to if you have kidney failure caused by Fabry disease, you can get a new kidney, to you can have more than just Fabry in your kidney, to here’s the new things that are happening with the kidney. And that’s a lot to ask a nephrologist to do, but if they’re interested, if they’re willing to talk with somebody who’s just knee-deep in Fabry all the time, then it can be a great relationship and lead to better outcomes for patients.

Staci Kallish: This is why it’s really important to have a quarterback, which again is often in genetics but could be anywhere, and when possible for patients to try to get care within one or a smaller number of medical centers because it makes the communication easier. So when these conversations come up, someone like me or Dawn in our centers can try to get all of the providers into one conversation, the cardiologist, the nephrologist, so that they can talk to each other and help decide what is best for the patient.

Dawn Laney: Yeah, I have to say that using medical record systems that pull in records from other health systems has been a game changer. We used to have to call and get them faxed and we get lost, and then you try to talk to people over the phone and leave voicemails. Now you can leave a message, somebody in the actual medical record systems, and they can read it and respond when they’ve got time. Usually it’s pretty quickly because we’re all looking at our clinical medical records all the time. So it’s gotten better, but some systems don’t put their information in there, so we still can do some of that calling around. So again, collaboration is key. If you can use systems that talk into the same medical record systems, even if they’re completely different hospital systems, it can really help your care.

Q4: How well does your medical team work together and understand Fabry disease?

Patient: That’s been hard to figure out how to get a GP that really knows it. They’ve heard of it, that’s one day at medical school, but they don’t know much, and there’s nobody else in town that really, at least I haven’t found anybody that knows much about it. The cardiologist kind of did, but yet he was wanting to blow me off as a woman again.

Patient: So it’s just doctor here, doctor there, doctor, all these opinions, and I can’t make sense of it. I don’t know… It just seems like nobody knows. The right hand doesn’t know from the left hand. I remember clearly when I first saw my geneticist, she said that she would serve as the air traffic controller and she would help manage my care team. That hasn’t been the case. There’s no synchronization, there’s no communication, there’s no game plan. There’s no game plan for this. I’m just being given a Band-Aid, it’s just medication after medication after medication, and this has been almost two decades of this.

Patient: My Fabry team is essentially a loose amalgam of individuals held together by me.

Patient: I try to have all the doctors in the same location now so they can see each other’s notes. My geneticist, I have to tell her, “I went to my cardiologist, and she said, ‘This, this, this, and this.'” This is what’s tiring, because I put them all in the same location to make my life easier, but I don’t think they really read each other’s notes, to be honest.

Patient: It’s not that they are willfully refusing to work together or anything. I think it’s just the way it is that doctors in general, they trust themselves. That’s how they got through medical school, trusting themselves, and they believe in their stuff is the right test to be running, and they have a hard time admitting that they might need help to give better care to someone.

Staci Kallish: Yeah. Finding coordinated care is really challenging and also really important. I think we’ve talked about this a little bit already, but for the patients who at least get to me, who I’m aware of at Penn or who Dawn sees at Emory, we have a couple of different models. One is trying to have patients center their care in our center. We try to do that by coordinating visits on the same day. So if patients are making the trip for a few hours away to Philadelphia, then they’re seeing several specialists and having imaging done. And this has become a little bit easier with telemedicine where some of their care can be done by telemedicine and some of it’s done in person, and we really try to minimize that where patients may come to our center only once or twice a year. For people where that’s not possible, again, we can use the genetics as kind of a medical home for rare disease where we communicate with their local providers.

The other area where I think is really important is finding a primary care physician, and one of the patients brought up their concern of finding a primary care physician who’s experienced with Fabry disease, and the truth is that that’s probably not going to happen, and I’m not sure that that should be your focus. I often counsel patients that my preference is that they find a primary care doctor who is willing to listen and willing to work with their team, because it’s important that your primary care provider be local to you and accessible to you. So finding someone who is willing to listen to you, to hear your concerns, and then willing to reach out to your other specialists to work with the team can really be a game changer for patients. It can help us coordinate care locally when needed to help us work up patients who have new medical concerns locally rather than them having to make the trip to see one of us at a major medical center.

Dawn Laney: For sure. And it can sound like it’s daunting. How do you know what you need and what you don’t need? Unfortunately, there’s a couple papers out there and also on the line, some schedules of assessments is what we call it, where you can think about what’s happening for you individually and what are the type of tests that are recommended. How often do you need your kidneys checked? How often do you need an echo? Do you need a cardiac MRI, a hearing test, eye exams?

You can look at that schedule and talk with your primary care once you’ve got a good one and say like, “Okay, this is what I’m worried about. I see this is recommended, which means most likely insurance will cover it. How do you think we should handle this?” And then you can help prioritize what makes most sense to you. If you’re like, “Yes, I have poor hearing, but that’s not what I’m worried about. I’m worried about my palpitations I’m having in my heart.” I probably need to go see a cardiologist, but with a primary care while we’re waiting, order a Holter monitor or how does it work with your primary care? What are they comfortable ordering? What are they not comfortable ordering? Do they want you to go to specialty? They do not want to go to a specialty.”

But if you’ve got the recipe book, which is those schedule of assessments, then you can know, “Ooh, I really should have this. I’ve never had a pulmonary function test and I feel like I’m having some shortness of breath sometimes.” And then that may lead you then going to see the cardiologist. But if you know what would be happening at a center, like if Staci and I were running the show, what would we do? You know now you’ve got the information and then you just need to figure out who’s the medical provider who could help you order it up and then get the results back.

Because I feel like sometimes tests happen and you never learn what the results are. So nowadays in most centers you can sign up for a patient portal and that means you can see the results sometimes before your doctor does, but at least you’ll know that they came back and have results or did they fail and you didn’t get results? You’ll know now instead of a year from now when you see your doctor next. So I think it’s a lot of work being your own CEO, your own quarterback of your condition, but at the same time there’s tools through the advocacy groups and that we can help you with various centers of excellence in Fabry disease to help you really be your own advocate and be able to do your own, not direction of care, but understanding what’s happening and figuring out what you would be getting if you were at one of our centers.

Staci Kallish: And this can be helpful for therapy as well. We know that accessing therapy can be especially challenging for people who live a distance from a major academic center, especially for those who are interested in or who only have IV therapies as an option. Because if you live four hours from me, it’s not feasible. Even if you come to see me once a year, it’s not feasible for you to be infused in my center. And because many of our licensures are across state lines, if you want to be infused in an infusion center close to your house, you often need a local provider to be able to order that. And so you can certainly work with your local provider. They can work with us.

Even if you’re not seeing us, most of us in the rare disease community are very open to talking with local physicians. Our industry partners can be helpful in making those connections. So if you’re interested in an IV therapy or that’s what’s available to you and your local provider isn’t sure where to start, they can start talking to the makers of those therapies. They can help connect them to experienced providers who will give guidance. They can help with infusion center identification, things like that. So there are ways to get the appropriate care and to access therapies locally if you’re not able to make it to a major medical center. But as Dawn said, it takes some advocacy on your own and unfortunately a lot of work.

Dawn Laney: The other thing we haven’t mentioned yet is there are foundations also that are out there and have funds set aside for helping with medical expenses and travel medical expenses and deductibles and copays and things like that, but you have to apply for them. And so I think it’s important to know those exist because as we’re talking about all this, I’m sure dollar signs are appearing in your brain as well. And there is some relief that can be had if you sign up for these programs.

And each program has a different offering and some you can do with Medicaid and some you have to do with private pay and some you have to be uninsured. Sometimes you’ve got to be on one enzyme product or something. But I know that the National Fabry Disease Foundation and Fabry Support Information Group, they have the resources that list them all out and they’ve even got a little chart that shows you what do each of them do and what do they not do. And they are a great resource that they can help you also connect.

So if you’re in Idaho and you’re like, “I really would love to talk to Staci or Dawn, but I’m not ready yet,” then what you can do is talk to the advocacy groups and they can give you some direction and then also tell you, “We’re having our meeting. It’s going to be in Minnesota, which is kind of close to Idaho. And if you could get some travel assistance, maybe you go to that meeting, meet one of us in person because we’re usually going to be there and then ask your questions in a safer setting while also talking and interacting with other people with Fabry disease.”

And I feel like sometimes you’ll learn a lot just by talking with others with Fabry disease. You always have to double check sometimes for things that are specific to them and are not necessarily something that would apply to you as well. But I think there’s different ways you can enter, so it’s a little bit less scary, a little bit less overwhelming because in order to do this type of thing, you just have to start with the first step and then you build on that. And sometimes you can be like, “Oh, well, I did the first step and I called and I never got a call back.” Okay, well, do you want to try again or you want to try a different direction? And I think that’s all a part of mentally setting yourself with the number of spoons of energy you have today, what is it you’re able to do and what do you want to follow up or not follow up on?

Staci Kallish: And I’ll just add that many of those patient support groups and the funding that they have, they often have grants for travel to clinic visits as well. So they may be able to help support travel to a semi-local site, even if it’s for your annual in-person visits. So those are all resources worth looking into.

We recognize that managing life with Fabry disease can be challenging and is multifaceted, but there certainly are many, many resources available. There are academic medical centers, there are online webinars like this and other online resources. There are family support and patient support groups as Dawn mentioned. So there are approved therapies and clinical trials and additional approved therapies certain to come and so I think that this is a positive time to be coping with this and hope that we can provide resources to help you.

Dawn Laney: Absolutely. And I would just add to that, we are in a time of great change. The things that we’ve seen since 2003 in the world of Fabry disease, you would think would be science fiction, but they’re here and they’re working with us today. And I think that there are definitely things about Fabry disease that are very difficult and make your life harder than it feels like it needs to be. But keeping yourself in the best shape you can be now means that you can avail yourself of the science fiction that’s coming soon. And I’m really excited about it.

Staci Kallish: There is a big community of healthcare providers who are experienced with Fabry disease. And if you are caring for patients in the community, please feel free to reach out to us. We’re a small rare disease community and we’re always willing to talk to local providers, providers who are taking care of one patient or one family. So either reach out to us directly, or you can find us through the internet by searching for providers who care for Fabry disease. Reach out to your industry partners who are helping you treat specific patients and they can help connect you to us because we’re always willing to help.

Dawn Laney: Absolutely. Email, call us, corner us at a meeting. These are all fine things. I mean, we are very fortunate that we’ve been able to focus on Fabry disease and part of our mandate is to help you.

Fabry Disease: Patients’ Real-World Problems and How to Manage Them

Staci Kallish, DO; Dawn Laney, MS, CGS, CCRC