Gene Therapy Is Here! Are You Ready?

We sit down with hematology nurse practitioner Maya Bloomberg to cut through the noise around hemophilia gene therapy, including what it can realistically change and what it cannot. We talk durability, safety, access, and the human side of decision-making so patients and families can walk into care feeling informed and empowered. 

• what gene therapy aims to do in hemophilia and why “cure” can mislead 
• how factor levels can rise, vary widely, and decline over time 
• eligibility basics, including AAV antibody testing and why redosing is limited 
• liver toxicity risk, frequent lab monitoring, and steroid protocols after infusion 
• lifestyle constraints, including the recommendation for no alcohol 
• family planning considerations, including viral shedding in semen and timing for conception 
• why gene therapy does not stop hemophilia from being passed to children 
• identity and belonging fears and how comprehensive HTCs support psychosocial needs 
• access gaps in community hospitals and why establishing HTC care early matters 
• telehealth options and decision tools, including WFH resources and Zebra for Care 
• women carriers with real bleeding symptoms, delayed diagnosis, and the need to advocate 

I would encourage everyone to complete the five-minute simple assessment at hematology.zebraforcare.com

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Transcript

Welcome And Show Purpose

SPEAKER_00 0:00

Welcome to the Emo Life Podcast, your gateway to transformation and power. Hosted by LAF WIO We're diving deep into the world of rare disorders, unlocking the full spectrum of your potential. Each episode, join us as we connect with pioneers, wellness experts, and survivors. They're here to share powerful stories and invaluable insights from mental resilience to physical health. Community news to life-altering strategies. At Emo Life, we provide the tools you need to excel and inspire. Prepare to elevate your life, learn, laugh, and grow with us. Let's embark on this journey together.

SPEAKER_03 0:53

What's

Why Gene Therapy Feels Polarizing

SPEAKER_03 0:54

going on, everyone, and welcome back to another episode of the HELIFE podcast. Today's conversation is honestly one of the biggest conversations happening in the bleeding and squares community right now. That's gene therapy. And depending on who you talk to, you're probably hearing completely different opinions. Some people think it's the future, some people are nervous, and some people are overwhelmed. And a lot of people honestly don't even know where to begin. And that's why we wanted to have a real conversation today around education, access, misinformation, fear, hope, and what the future of humophilia care might actually look like moving forward.

SPEAKER_02 1:25

And guys, the most important part, this isn't about making an assumption or just pressuring your decision. It's about helping people get more educated, providing them with the right information, and empowering patients when it comes to these conversations. Really, because right now there's so much information online, there's so many options, there's a lot of emotions surrounding gene therapy. And really, patients and families really need to figure out what's the right information, what's the wrong information.

SPEAKER_03 1:53

Yeah, and joining us today is Maya Bloomberg. Maya, thank you so much for being here. And for those of you who don't know you yet, why don't you give a brief introduction to our audience?

SPEAKER_01 2:01

Love to thank you so much for having me today. I am a hematology nurse practitioner, and for the past 11 years, I've been the adult nurse coordinator at the University of Miami Hemophilia Treatment Center. I'm known on social media as the HEME NP, where I provide easy to understand and reliable information on all things hematology and integrative health. And I'm also a nonprofit founder for the HEME Foundation, standing for Health Equity Matters, where we're essentially trying to improve health outcomes through a holistic lens. And my most important job is I'm a mom of three young kids, which is the best passion and my biggest joy in life.

SPEAKER_03 2:34

Awesome. Well, we're super happy. This episode is going to be an amazing episode, full of value for everyone. But I think the perfect place to start this conversation is at a high level. For someone who's who keeps hearing the words gene therapy online, but they still don't fully understand what it actually means. Can you give us a high-level overview?

SPEAKER_01 2:54

Gene therapy essentially offers the ability to convert somebody with severe hemophilia

How Hemophilia Gene Therapy Works

SPEAKER_01 3:00

to mild hemophilia. It's an outpatient procedure or maybe 23 hours observation where patients will receive a single infusion, and that infusion essentially will go to the liver, integrate within the cells, because the liver is what produces factor eight and factor nine. And through that, the goal is then to get the body to produce its own factor and again convert somebody from severe to mild hemophilia where they wouldn't necessarily need to be on prophylaxis. Although some individuals still might have factor requirements based on what factor level they achieve, especially after several years. So maybe for surgery or procedures, there could still be factor needs, but the percentage of individuals who come off prophylaxis is pretty, pretty high.

SPEAKER_02 3:42

Yeah, that's that's awesome to hear. Really, I mean, one of the points that I'm interested in, I mean, me in LA have severe gamophilia. I know you treat it. You know, is there patients coming into the HTCs? Are they like really educated on this or are they just clueless? Or do you get patients that inquire all the time? I'm curious about that.

SPEAKER_01 4:00

I think there's a spectrum of patients. I have some who are extremely involved and very informed, and they're asking for it by name. I have others who are kind of more on the opposite end of the extreme, and I'm the one who's being more proactive providing the information. Most of my patients, we see maybe every six months or once a year, they're well controlled from a hemophilia standpoint. So I take advantage of that time to update my patients on what's evolved in the hemophilia landscape with regards to a lot of new treatment options that continue to get approved in addition to gene therapy, because I think there is a lot of misinformation out there. And as you mentioned earlier, there's an overwhelm of information too that it can be hard to navigate. So I like to be proactive with these dialogues. So I'm the first one presenting information. And that way, if patients hear something in the community, they can bring it to me and have more meaningful dialogues based on that.

SPEAKER_03 4:51

Yeah, absolutely. I mean, from my perspective, having a lot of different friends in the community, all we hear is just stories about what's going on. Um, it's really difficult to really know who to who to trust. And then obviously, you know, you have the manufacturers out there who are gonna like really push it on you. I actually um had a dinner one day with a manufacturer that talked to me and sat me down about it. But obviously they're gonna, you know, believe in their product that they're trying to offer you. So how do we know who to trust?

SPEAKER_01 5:18

Yeah, so we were participating in the clinical trials for gene therapy years ago, before the pandemic, and now with the commercial available, we have varying degrees of comfort. So from a research standpoint, it's even more of a controlled setting and it almost selects the ideal candidates at for follow-through, where in the real world setting, it's a little bit different. So I'm happy that we now have more information. We have over a decade plus of information, especially for hemophilia B, because when it comes to clinical trials, it's I don't want to say patients are cherry-picked, but it's a very controlled setting where we have strict protocols that need to be adhered, but it's different in the real world. So I've had patients who transferred to our center having already undergone gene therapy. I've been involved in my own patients getting gene therapy. And now more recently, we're getting it at our center in the upcoming months. So it'll be different on the commercial side of things.

SPEAKER_03 6:12

So this is so this is happening.

SPEAKER_01 6:14

Yeah. So I think it's it's very interesting because from a clinical trial perspective, one of my patients, for example, who had severe hemophilia. He had factor levels so high where we were having to submit adverse events to the drug manufacturer, to the study sponsor, because his factorate levels were 250, 200%, et cetera. But we saw those levels starting to decrease. So when it comes to gene therapy, and the beauty of science is that we're always learning. So one of the big things from gene therapy is we still have some unknowns. So, what does this mean for 10, 20, 30 years? How long is your factor going to be expressed for? How long are you maintaining your factor levels? What's the durability of that? So, my patient who had super therapeutic factor levels where we were submitting SAEs to the sponsor, his factor level is now down to the single digits. So I think it's important for patients and providers to just be very clear with the communication because for some providers and some patients, that single digit is okay. Cause even though his baseline is at 9%, he's not on prophylaxis, he's not bleeding, he's not having any issues, his hemophilia is not impacting his life. But again, there still will be that factor requirement for surgery or for trauma. So I think when we use the word cure, it's we need to be very intentional and make sure that we're clear on the expectations because I think it's important for patients to know that there still will be factor requirements and they will have a nice boost in their factor levels shortly after receiving gene therapy. But we do expect it to decrease with factor nine with hemophilia B. The gene therapy does seem to maintain and hover in the 30s or so uh several years out, which again, very safe level and is going to allow you to do mostly whatever you want to do without having to second guess and think about your hemophilia. The other thing is just when we look at the clinical trial data, we saw varying results for patients where you would see some people with really good factor expression and other people with lower factor expression. And some of it we can explain and some we can't explain. So if I have a patient who's interested in undergoing gene therapy, I'm transparent about that because the way gene therapy works is they're using a viral vector. So they're using a virus, uh, typically an adenovirus, and it's inactivated. So it's not like it can get you sick. But say you were ever exposed to adenovirus vector or a virus growing up, which can happen to any of us, you wouldn't be a candidate for gene therapy because when you would get the infusion, your body essentially would recognize or already have pre-existing antibodies and break it down, and gene therapy wouldn't be possible. So anybody who's interested needs to undergo antibody testing to see are they even eligible from that standpoint. And the way it stands currently, once you get gene therapy using that vector, you're not going to be able to redose with the vector for that reason as well. So it's important for patients to understand what we know, but also understand what we don't know. And if I have a patient who understands that and they're still really eager and excited and want to undergo that process, then I'm all on board to help support them through because my general treatment philosophy is as a provider, I think my job is to present to you what the options are. And then through that, we kind of evaluate what are your goals out of treatments and just life goals as well. How does hemophilia fit into that? And from there, what is the best treatment approach for you, whether it's factor or novel treatment or gene therapy?

SPEAKER_02 9:38

Yeah, I mean, I think that you explained it really well. And first thing that comes to mind for me is side effects. And, you know, this isn't a factor product. This is actually genetic material. You have a vector of being the adenovirus, it goes right in your liver. You're actually getting DNA incorporated into your cells. And it's, I don't know if I'm gonna say permanent, but it's not something that's like, we're gonna turn it off today. We don't, you know, it's it's there. And so I I think for me, being a patient is like, what are the side effects? What is the long-term complications? It hasn't been studied. I think that's a concern.

SPEAKER_01 10:09

The most common side effect is hepatotoxicity or a toxic or a damage to the liver. And that's because it's going directly to the liver. But we know this, and that's why even

Durability, Factor Levels, And Unknowns

SPEAKER_01 10:20

before you're considered a candidate for gene therapy, we do the antibody testing. We also do a lot of imaging like liver elastography and different MRIs, et cetera, to make sure the health of your liver is good. We know again that hepatotoxicity is the most common complication. And because of this, a lot of patients are going to require steroids afterwards. We do frequent monitoring after a gene therapy where you have to get labs every single week for the first few months afterwards, because if you have liver damage, the liver is what is producing your factor. So we need to get that damage controlled very quickly, otherwise, that's going to impact what your success is and what your factor expression is. It's also important. So say you're a college-age student and you're drinking alcohol a lot. You cannot drink alcohol. And this is something that it's not just leading up to it, it's afterwards because anything that could potentially damage your liver could potentially damage how beneficial and how impactful this gene therapy is in your body.

SPEAKER_03 11:19

So, does that mean like no drinking whatsoever? Or like what are you talking like excessive amounts? Like, are we talking just what's going on?

SPEAKER_01 11:26

We recommend no drinking, none. We really recommend no that's that's what's recommended in the clinical trial.

SPEAKER_02 11:35

But I I do think what what Maya's bringing up is what I would love to know as a patient. Like, hey, there is monitoring, there is a risk of hepatic damage, liver damage. There is also some lifestyle changes that you do have to adhere to. These items in the hemophilia community, I feel like I'm happy we have a podcast about this. Uh, thank thank you for the sponsor of this podcast because we're getting out this valuable information that, you know, I don't think I've heard from another platform at all. And, you know, understanding one thing is about like Maya brought up, hey, I want to be cured. Well, hold on a minute. The the word cure needs to be used in a very delicate way. And there is certain building blocks that you need to know to actually make that decision. You're making it with a provider uh at the bedside, uh, not necessarily over uh a phone call. This is more of an in-depth conversation. And so I love our having these conversations. I really do.

SPEAKER_01 12:32

It's usually it's not like we're just having one appointment and then we're setting them up for gene therapy next week. There's a lot of implications and considerations, especially if you're interested in having kids soon. The virus can be eliminated and excreted in the semen for several months, like six plus months afterwards. So we also recommend abstaining from having children in that time period until it's fully eliminated from your um semen. So, and it's also important to realize that once you receive this, you can still pass it on to your offspring. So, a lot of times when we talk about gene therapy and different cures, people think everything is cured, but we're not actually affecting the germ cells, which is what produces your sperm. So you still are going to be able to pass it on to your kids. So your men with hemophilia, all of your daughters, just based on genetics, if they're your kid, are going to be a hundred percent obligate carriers and based on the lionization determines um how that presents itself. Um, and female carriers, again, it's 50-50 chance of kids being affected with either hemophilia or a carrier if you're having a daughter.

SPEAKER_02 13:30

Yeah, that's good to know. I mean, that's a that's a question that, you know, if I if I was a patient coming in, not a medical background, I'd be like, it's a cure, my kids won't be carriers and all this. Like, I think airing this out to the community is very, very important because when I hear a cure or I hear something about gene therapy, I all automatically think, it's done. No, that's not the case. There's a lot of things you got to consider with your provider.

SPEAKER_01 13:52

I'm curious from you too, just um, since you haven't had as much exposure or no individuals with gene therapy, what are the main questions and comments or concerns that come to your minds that we might be able to share with your audience as well?

SPEAKER_03 14:04

Yeah, I mean, honestly, you're kind of like nailing through the list already of everything. I guess my big concern was how long it would last after you did it. Like you said, you your levels would get to the 30s, and then maybe like it would gradually keep on decreasing as time went on.

SPEAKER_01 14:19

It's like hemophilia, the levels maintain and kind of plateau more long term. For hemophilia A, we saw a little different. But what's interesting is right now the hemophilia A gene therapy is no longer on the market. Um, not for safety issues. I I don't have to look in, I don't want to misspeak from that, but from a it wasn't safety. I think it was more just the the pharmaceutical company or person to buy the product. But right now we only have a hemophilia B gene therapy available.

SPEAKER_02 14:44

I have severe hemophilia A, LA you have B. Uh, so really for me, like, okay, I have a medical background. Everything that you explained, I I completely understood. But for me, it's like, what about follow-ups? How is this impacting my life? You mentioned like imaging and stuff like that. Is this something like, hey, you know, I've been in a clinical trial before and I knew I had to get blood drawn, I had to travel. Obviously, there was a lot of things when I was in, when I was 13, 14, 15 years old. And so I was like, wait, am I now gonna be stuck like three times a week? Like, you know, drawing blood? I would want to know, like the monitoring.

SPEAKER_01 15:20

So typically it's once a week lab draws for the first three months. Um, most of the time on the adult side, insurance kind of delegates where we can get our labs. So a lot of my patients are going to quest or lab corpse. So we make it easy. I enter it electronically, and then you can just go to any facility that way. There is in-home testing options, and I know the manufacturer for the HEME uh gene therapy, especially for the antibody testing to see are you even eligible? Because again, if you already have antibodies above a strong threshold present, you're not going to be a candidate. Some antibodies, you can have some antibodies, but there's a certain number that it can't exceed. Um, and it's a small percentage. I think it's less than a quarter of patients are unable to participate due to these antibodies. Um, but they do offer home testing for that to try to make it easy and accessible as well.

SPEAKER_02 16:09

We talked about antibody testing from like just digging into the actual labs itself. I know with hemophilics, everyone's they want to see the PK, the peaks and troughs. They want to see, like, are you just looking at factor activity then? Like, tell a little bit of patients like what labs would be that weekly lab draw. I'm just curious.

SPEAKER_01 16:27

Yeah. So for the antibody testing, it's strictly testing for the adenovirus antibody. And there's multiple adenoviruses. So you have A, B, five, eight, et cetera. So it's just checking the specific one that's for that gene therapy. Then the post-follow-up, it's really just to check the health of your liver because if we see elevations above three times the normal limit, for example, like we'll have to initiate prednisone and medications to kind of calm down that immune response. And we have to initiate it quickly because I think if there are delays in initiating and your liver enzymes keep going up, up, up, and up, that would be a patient that is at higher risk for having a, I don't want to say treatment failure, but not having as robust of a factor response. So it's it's really the liver function tests that are going to be monitored. Um, if I'm getting labs, I might enter some blood counts and iron and just make sure from a health screening standpoint, you're fine, but on the weekly basis, the liver test.

SPEAKER_03 17:19

So someone like me who contracted hepatitis C, um, I might not be a good candidate then for gene therapy.

SPEAKER_01 17:26

But we essentially, if just because you have hep C, first of all, anybody with hep C, we have amazing drugs now where even if you're asymptomatic, we send patients to get cured because we have a treatment that has very low side effect and over 95% cure rate. But that being said, we know hep C can have the potential to reactivate. There's also that potential to convert to liver cancer. And I think on the last podcast, we had talked about the AFP, the alpha fetal protein, which is a tumor marker. So anybody with HCV history, I recommend having that part of your annual exams when you're an adult. Just again, early identification always leads to the best outcomes from a health standpoint. Um, but before we do any gene therapy,

Liver Risk, Steroids, And No Alcohol

SPEAKER_01 18:05

we're doing liver imaging. So even though you've had history of hepatitis C from contaminated factor or blood products, that doesn't necessarily mean you're ineligible. Because if you have normal liver function tests, your AST and ALT, et cetera, all within normal range. And we did the elastogram and see that your liver is functioning perfectly and you don't have any scarring, you would be just as eligible as somebody who doesn't have that history.

SPEAKER_03 18:28

So I'm sure there's gonna be a lot of new families that listen into this podcast episode. They're gonna see gene therapy, probably think about a cure for hemophilia. So you got to tell me then, like, is this gonna be something that's gonna be eligible for the next generation? Like, um, like what I guess what I'm trying to ask is is there an age limit?

SPEAKER_01 18:46

So when it comes to gene therapy and any clinical trials for medications, they always start with the adults and then they start to decrease the age. So maybe it'll be 16 and up, then going to 12 and up, then six and up, et cetera. So being an adult provider, full transparency, I need to check to see what the age limit is currently for gene therapy. But it is going to be something that continues to be available. And there's a lot of other gene therapies that continue to be studied. So we have our first approved gene therapy, but I always get excited for gene therapy 2.0 and 3.0 because we continue to learn from these clinical trials what works, what didn't work. When we had there was Spark Therapeutics, which was another gene therapy um clinical trial from years ago. And I remember when they came out with their phase three data, a phase three is they've already established the safety and the efficacy, and now we're trying to just enroll as many patients as possible to see how we can generalize the results. And in the phase three data, all of a sudden there was all of these varying degrees of factor levels, and it's not what you necessarily would have expected. And I think again, it's directly related to the hepatotoxicity. They didn't have as clear guidance and structure for um the steroid protocol and kind of left it up to the discretion of the provider. So I think we're learning a lot from prior clinical trials and what's working and what's not working. So I think for all of these other gene therapies, it's just going to give us more uh scrutiny in a positive way because I think we the transparency allows us to just continue to do better and just really prioritize the patient-facing goals from a safety and efficacy standpoint.

SPEAKER_02 20:19

I mean, we're we're on this podcast, LA, we we are all about mentorship, we're about empowering folks. We we do share a big community. I'm sure uh Maya, you have a community that follows you that are all affected by bleeding disorders. And so my question is some people are really like, they might ask, well, I'm afraid of losing my identity in this community because if I get cured or I don't have to uh require, you know, the the treatment, am I gonna be now I'm out, I'm out of the community. Uh I think that's a topic we need to discuss. I've heard that before, hopefully.

SPEAKER_01 20:52

I think there definitely is a psychosocial component to it. And as per something we need to discuss. We spoke about how gene therapy isn't just a single visit type of thing. It's we have ongoing conversations. So when people are getting closer to that, this is where it's beneficial going to a comprehensive hemophilia treatment center because you have multiple points of contacts, including a social worker, physical therapist, you have your providers, et cetera, that allows us to have that comprehensive care and address those psychosocial needs and what that means. There's also the patient identity where I've had patients whose loved ones with hemophilia passed away, and now all of a sudden they've have that identity that they they're like, do I even belong anymore? And I think at the end of the day, if you're involved in the hemophilia community, whether you have hemophilia yourself, you were a caregiver, you're a provider, or you're just genuinely impacted by the bleeding disorder community and want to be an advocate, you're always welcome. I think a lot of times with this identity, it kind of clues in some insights that there's something that we can address from a mental health standpoint and really challenge those identities because I think a lot of us are kind of operating. With a lot of limiting beliefs and identities that we created as children. And we've kind of continued through with them through adulthood. And once you have the awareness of these identities, you can see are they outdated? Is it still aligned? But for those who do undergo gene therapy, I think we've all heard the identity aspect of it. But I think that that's something that you should just challenge. And it's not true. And I think if you are in the community, you're always going to be in the community. And I think people will value your experience and learning from you because as a provider, I can give so much information, but I truly believe that the lived experience is always going to be more impactful for patients within that community.

SPEAKER_03 22:39

Yeah. I'm curious how many different, I guess you call them vectors have been approved so far, like gene therapy options.

SPEAKER_01 22:46

Well, right now there's only one gene therapy approved for hemophobic. There are more coming. And what's cool is I remember when I was at Ash, the American Society of Hematology conference the other year, there was a poster where there, it was in mouse studies, but they're looking at different vectors and different abilities for administering gene therapy that say you received AAV or you had antibodies that preclude you, it would give a different pathway for people to be eligible for gene therapy. So a lot of them are using different vectors and different uh mechanisms in order to accomplish gene therapy. And that will again increase accessibility.

SPEAKER_02 23:19

Speaking of accessibility, I think really uh one of the topics I want to talk about. We talked about a little in the science. We talked about our our identity, if we get cured. But the other thing is is really access to care. So I personally, in the last month, I've had people reach out on the podcast, the DMs. I have had we've had so LA, we can talk about this. We had so many people reach out. We had a guy that he wanted to get, he had to get his prostate removed. He had prostate cancer. The surgeon uh was not on board with him giving a pick line, as well as they didn't know where they were at. They're like, should we infuse before surgery, after surgery? I had uh we had somebody on the podcast last week, uh, a girl that hurt her back. She fell on a glass vase, had a big tear in her back, went into the ER. The ER didn't know what to do, ended up 16 days in the hospital. One one guy recently that I met with, he was from uh Arkansas, and at the end of the day, they didn't know he had an acute appendicitis and uh it ruptured, and they didn't know how to do what to do. Like they didn't they didn't have factor. And so I just want to shed light on in 2026, you would think that everyone knows about hemophilia. You're good. I I just want to talk about this because there's been three cases in the last month that I'm like, I should shake my head, like, really? Are people needing more education? Or we have patients that are driving hours to get their care, or they go to a community-based hospital, they don't get the right care. I mean, I think really discussing the right access to

Fertility Timing And Passing It On

SPEAKER_02 24:50

care, I would like to understand our options in 2026.

SPEAKER_01 24:54

That makes me sad to hear. I think first and foremost, patients are the biggest advocates for themselves. Even if you have an amazing provider, I think it's really important for a patient to be aware of their diagnosis. I think the standard is if you have hemophilia, you should be followed at a comprehensive hemophilia treatment center. And that's because we have so much data from decades ago that being involved with an HGC reduces morbidity and reduces the rates of developing complications and early death as a result to your hemophilia. You can go in the CDC, there's a CDC directory to identify hemophilia treatment centers based on your zip code or based on city, state, et cetera. So if you do have a bleeding disorder, I would recommend just identifying what is the closest hemophilia treatment center for you and establishing care, even if you have mild hemophilia or you barely have any issues, because I can say when you have an emergency, or if you were to call for an appointment for me, there's six plus months wait. Granted, I'm always happy to overbook and find slots on a as needed basis, but it's always better to plan in advance than to kind of pop up out of the woodworks when you're having an emergency because you never know what the capacity is of that clinic and how they function, what their clinic days are, et cetera. Um, from a provider standpoint, I actually get a lot of referrals from drug manufacturers for patients who are on patient assistance programs because they're unable to get their factor. And I see that a lot of patients will get connected with community providers who might be a hematologist, oncologist, but they're doing like 99% oncology and their understanding of hemophilia is much more limited. And I think from that standpoint, these are my patients where I had a patient who was 26 years old with severe hemophilia and he was taking advait every other day. And I'm thinking, why is he on advait every other day when we have and he's still having all these breakthrough bleeds, et cetera? And it's because he got connected to a provider and that provider just continued what he was receiving for all of this time. I also see um like insurance companies have started to change their prior authorization process where they require you to be seen by a board-certified hematologist within a certain time period. And similarly, it's because we had patients who were just going to their primary care provider and saying, Hey, I need X, Y, and Z prescriptions. And they were just continuing it, but not necessarily receiving the standard of care of what's most appropriate for them. Um we offer virtual, that was one beautiful thing from the pandemic as we started to offer telehealth appointments, and we've continued to do that as long as insurance is covering that. Because in South Florida, we're the only hemophilia treatment center that treats adults, and we have patients who they were driving four or five hours to see us. So I think the telehealth option has been really beautiful to improve accessibility and it allows our patients. Like it's nice for me to see you in person and be able to listen to your heart and lungs, but your blood work and being able to kind of see your joint status where we can kind of chess range of motion and prompt further care through the screen still is possible. But ultimately, I think just planning in advance, if you know that you have hemophilia or a bleeding disorder, I would the first thing go on the CDC directory, try to find your HTC and connect with them before you have a problem. So that way, if you need emergency prostate surgery or things of that nature, everything is already coordinated.

SPEAKER_03 28:04

So if people are overwhelmed, confused, and getting 10 different opinions, where are they actually supposed to start?

SPEAKER_01 28:09

The first

Identity, Community, And Mental Health

SPEAKER_01 28:10

place is just starting within. And I think this is where it's important for our patients to actually introspect and think what's working with your current treatment, what's not working, how is your hemophilia limiting you? What are your goals, whether it's from a hemophilia and treatment standpoint or just general goals in life? And as a provider, I use all of this information to then come up with the best treatment options are for you. But you have to start looking at and deciding what are your goals, what are your aspirations? And a lot of patients might not have ever considered that. So I typically will refer my patients to the World Federation of Hemophilia, has a great shared decision-making tool that kind of helps probe further. And then more recently, thanks to our sponsors for today, we've learned of a newer assessment tool called Zebra for Care, which has additional questions and information to kind of get you to start thinking inward and start determining what's the best treatment option for you. Is gene therapy appropriate versus other regimens? And these information, whether you use the World Federation or Zebra for Care, allows you to have a more meaningful dialogue with your provider because once you have the awareness and can specifically say what is important for you, what's working, what's not working, it gives us a lot of information and leadway to come up with a more individualized treatment plan for you.

SPEAKER_02 29:23

Yeah, I mean, looking at something easy with Zebra for Care, it's really awesome. You just go to hematology.zebraforcare.com. They have a very intuitive uh survey for hemophilia B patients interested in gene therapy. It's a it's essentially a five-minute assessment. You get started. It talks about, you know, your age, your weight, some of the key factors, maybe your factor level, and sees if you're a candidate, whether whether you're eligible or ineligible, and then you can get linked up with a hematologist via a telehealth appointment, and then just get some basic information around gene therapy.

SPEAKER_01 29:56

There's some places where I think the setting is really helpful, being connected with a virtual doctor who's licensed in 50 uh of the states and gives you that access, and making an appointment very quickly is a good option. It doesn't necessarily, as we mentioned, replace that hemophilia treatment center comprehensive model, but it gives you information, especially at a faster rate, especially in some locations where there might be delays with getting connected with an HTC.

SPEAKER_03 30:22

Dr. Joe and I, we just got back from an Iowa hemophilia trip and we had the opportunity to sit down with different patients, and everyone has a completely different situation. You know, some people are four hours away, some people want access to care right now and they and they just can't get it, or maybe they are um getting access to care, but they're not getting the proper, you know, response. Proper care. Yeah. That they're looking for. So there's just so many different scenarios where I can really see this type of a platform being valuable. And then the other thing is we got to ask all of them while we were there, hey, what do you know about gene therapy? And everyone was pretty clueless about what's going on. So this is just a really good opportunity that if you are interested, take the quick survey, you know, start the process, become informed, get some clarity, and find out if this is truly right for your lifestyle.

SPEAKER_02 31:08

That's not every HTC has these gene therapies. We just learned that hemophilia A, there is no gene therapy. It's for hemophilia B. Can you get into that? I mean, you're the expert.

SPEAKER_01 31:18

Yeah. So I've been trying to get gene therapy at my center for years. And the price tag, for those unaware, heme gen X is $3.5 million. So that's a lot of money, and institutions want to make sure that they are going to be reimbursed for set amounts as well. So we're just now in the process of getting everything up and running years after its approval date. So it's important that even if you do get connected

Access To Care And Finding An HTC

SPEAKER_01 31:40

virtually or you're speaking to your hemophilia treatment centers, it's important to see where is actually offering the gene therapy if you're interested, because before we had it available at our center, I had to refer externally up to Tampa. Um, so just again, I like to be very realistic with my patients and have clear expectations. So we're not leading somebody to get really excited about gene therapy and come to find that it's not even available in their state.

SPEAKER_02 32:03

Yeah, I think Zebra for Care, guys. So you complete the survey, you get linked up with a board certified hematologist to start those initial questions.

SPEAKER_03 32:10

Yeah, and it's free for everyone to do, so there's there is no charge. And we're gonna add a link in our uh Instagram bio if you guys are interested. Awesome. Living with hemophilia is so individualized. I mean, it's such a crazy disorder. You I talk to people who have mild who bleed like severe, severe who are like mild, like I mean, I don't know. I just feel like everyone's experience is so unique.

SPEAKER_01 32:29

So definitely it's like a fingerprint.

SPEAKER_02 32:31

Yeah. I mean, even women that have, you know, they're a carrier of hemophilia, uh, you wouldn't think like they need factor. But there's some patients that, you know, they're having heavy menstrual bleeding, and they're just a carrier of it, you know. And you would think, like, my God, like you're acting like a severe hemophiliac and you have to have, you know, uh factor before surgery or once a once a month during your mencies. It's just, it's there's a lot of different variations, like you said, very individualized. I think for somebody watching this that's overwhelmed about gene therapy, but maybe they're just overwhelmed about where they're at. Like, hey, I know you guys are talking about gene therapy, but uh I don't even know where to start. Like Maya said, there's uh there's a guy that came in, was on ad bait every other day, and you just might be confused. Maybe you just need more information, maybe you just want to connect. Uh, I think Zebra for Care, this platform, can maybe just start these conversations. Maybe you don't you don't really know if you want to do gene therapy or not. Complete the survey, meet with a hematologist, and maybe that starts the conversation for you to get better care for yourself, linking up with your HTC again. Maybe the hematologist that talks to you over the phone is maybe going to give you some other options, or maybe gene therapy is an option for you. But I think really there's a lot of confusion right now in the hemophilic community of what to do, what not to do. There's a lot of emerging treatments. I mean, there's a new medication, uh, not approved yet, but it's a once-a-year uh injection. And, you know, like Maya said, prophylaxis is changing, you know, the treatments are changing. I just think having this platform give you some basic information and really start the next conversation with your provider, I think is just really awesome.

SPEAKER_01 34:13

And then just since you talked about our female carriers who believe, like I do have uh female carriers who are on prophylaxis regularly because of their bleeding. And we mentioned earlier in this episode how there's providers who still don't understand hemophilia, or there's providers who still think women don't have bleeding disorders. So, again, a very important point for especially our female carriers, if you do have bleeding symptoms and you've been dismissed, we know that based on data that there is a 16-year delay in diagnosis for people with bleeding disorders and just getting connected with a treatment center who understands that women can bleed and can kind of come up with an individual approach because I do have patients who are on prophylaxis because they've had joint bleeds. I like even a 22-year-old who has arthritis of her joints, even though she's never had an overt joint bleed that causes the tingling and the bleed and the redness and tenderness, et cetera, she has joint damage based on diagnostic imaging, which is consistent with bleeding episodes. So we're more proactive with her regimen and on prophylaxis currently. Um, but a lot of considerations that I think, especially for our women bleeding disorders, if you've been gaslit by a provider and so, no, no, you don't need anything, and just follow your gut at the end of the day. And don't feel like you're difficult if you're advocating for yourself or asking questions.

SPEAKER_02 35:27

Yeah, I want to just chime in here. This is really important about uh the women uh bleeders in the community. I will say five to six years ago, I was at a national event and uh I was a consumer walking around, and there were three women that came, one was on a walker, and these were all different times of the day. And they were like, Yeah, you know, Dr. Milleschi, uh, my doctor won't

Women Carriers, Delayed Diagnosis, Advocacy

SPEAKER_02 35:50

listen to me. And I go, what do you mean? You're like, I'm bleeding in my knees, and I'm bleeding, well, the one was bleeding in your knees, ankles, and an arm. Three different women came up to me and just talking, and I was like, so they're not listening to you? They're like, no, they don't, they're not running the labs. I'm telling them, I'm telling them, I'm telling them. And the reason I bring this up, like fast forward five years, six years today, I feel like now you're seeing like women, like, okay, like you're heard. Like we, we, we understand. Like now I feel like women are being respected in this, like, wow, like you are bleeding. Oh my God. Like, let's run some more tests. Let's give you factor. And I just think this really homes in on we're providing a new educational tool with Zebra for Care, but the education really is the future. We need educated patients to, like you said, be your own advocate. And so um, it's just interesting to see the landscape change over the last even five years. I agree.

SPEAKER_01 36:41

Awesome.

SPEAKER_02 36:43

So the awesome part about Zebra for Care, our sponsor today, guys, they're really investing in you. They're investing in educating the hemophilia community. There's they've lowered all the barriers. There's no insurance requirements, 50 state coverage. So patients, wherever, whatever state, whether Alaska, California, wherever you're at, you can get on a telehealth appointment with a board-certified hematologist. Get that initial information that you need for uh inquiry about gene therapy for hemophilia B. And really, they coordinate everything online. So I would encourage everyone to complete the five-minute simple assessment at hematology.zebraforcare. You can see if you're eligible and you can really get started. Thank you so much, Maya, for coming on this. You're the expert, uh, the HEME NP, we love having you. And hey guys, that's another episode.

SPEAKER_00 37:32

Thank you for tuning in to the HEMOLife podcast. Today's episode hopefully inspired you and provided valuable insights to enhance your journey. Join us again to hear more incredible stories

Zebra For Care And Final Takeaways

SPEAKER_00 37:45

and expert advice from our community. Make sure to subscribe and stay connected with the group of extraordinary achievers and pioneers. On behalf of LA Guayo and the entire EmoLifete, keep pushing forward, strive for excellence, and remember you are the architect of your own design. Until next time, stay strong, stay inspired, and continue on your path to a lead life.