A Map to Navigate a Rare Disease

Daniel Levine: Kari, Ashley, thanks for joining us.

When someone receives a diagnosis of a rare disease, they often find themselves in a strange land with no roadmap. The Tuberous Sclerosis Complex Alliance is helping patients with TSC better manage their condition with the TSC Navigator, an online tool intended to guide individuals and families through the complexities of TSC across their lifespans and live fuller lives. We spoke to TSC Alliance CEO Kari Rosbeck and TSC Alliance Director of Medical Affairs Ashley Pounders, about the TSC Navigator, the thinking behind it, and why it could serve as a model for other patient organizations to follow.

Daniel Levine: Kari, Ashley, thanks for joining us.

Kari Rosbeck: Thanks for having us.

Daniel Levine: We’re going to talk about tuberous sclerosis complex, the Tuberous Sclerosis Complex Alliance and the TSC navigator, a new tool you developed to help patients and families. For listeners not familiar with TSC, what is it?

Kari Rosbeck: TSC, tuberous sclerosis, complex is a rare genetic disorder that causes tumors to grow throughout the body, the brain, heart, kidney, liver, lungs, skin, almost every organ system, and can be progressive throughout a lifetime. It impacts one and 6,000 live births, about 50,000 Americans, and a million people worldwide.

Daniel Levine: How does the condition manifest itself in progress?

Kari Rosbeck: Absolutely. So, babies in utero can be found sometimes to have heart tumors. And if there are two or more, it can lead to a probable diagnosis of TSC. Coincidentally, or strangely, often those heart tumors shrink after birth. Up to 90 percent of infants have those. Epilepsy is also a very common manifestation of TSC. Eighty five percent of individuals with TSC will have epilepsy and two thirds of them will have medicine resistant epilepsy. Brain tumors and kidney tumors are very common in TSC. And then for women of childbearing age, they can experience lymphangioleiomyomatosis or LAM, which are lung manifestations in TSC, and we collaborate really closely with our sister organization, the LAM Foundation.

Daniel Levine: Well, are there treatment options for TSC, or are patients treated symptomatically, and what’s the prognosis for someone who’s diagnosed with TSC?

Kari Rosbeck: Absolutely. I’ll start and then I’ll let Ashley jump in because she is our nurse practitioner and director of medical affairs. There are two FDA approved drugs specifically for TSC, and we realize how very fortunate we are in TSC to be in that position. As you know, 5 percent of rare diseases have approved therapies. First of all, there’s a drug called Afinitor, or everolimus, that is approved to treat a very fast-growing brain tumor called a SEGA (subependymal giant cell astrocytoma). That same drug, because it works on the underlying genetic pathway, also works to shrink tumors in the kidneys, and it is used as adjunctive epilepsy drug to treat seizures associated with TSC. We also have Epidiolex that was approved by the FDA. It’s the first cannabinoid therapy approved by the FDA to treat epilepsy associated with TSC. So, those are the two approved drugs specific for TSC. Vigabatrin is often used as a first-line therapy for infantile spasms in tuberous sclerosis complex. It tends to be very effective. And we are working towards bringing many more drugs to market specifically for TSC. There are other therapeutics, typical epilepsy drugs, that are used in TSC and then there are other treatments, brain surgeries and treatments that we would use for the kidneys to treat tumors outside of drug therapy. Anything Ashley would like to add?

Ashley Pounders: I think you did a great job explaining it.

Daniel Levine: Well, Ashley, what is the prognosis for someone with the condition?

Ashley Pounders: The prognosis is really dependent on the manifestation and typically those who are diagnosed with TSC live a very long life. It’s really managing the symptoms associated with epilepsy and then the pulmonary manifestation that Kari mentioned called LAM, and then making sure that these individuals are getting proper treatment and management to prevent chronic kidney disease, which can then lead to renal failure.

Daniel Levine: How has TSC generally been diagnosed?

Ashley Pounders: The first step of that would be the presentation of it. Usually early diagnosis is more common in early childhood between 2 and 6, but like we have mentioned, it’ a disease across the lifespan and you can present differently depending on your age. And we have grown with so much research that we are doing so much better about identifying the diagnosis in utero. The journey is constantly changing. Unique from other diseases, we have what we call clinical diagnosis as well as genetic diagnosis. You can have a clinical diagnosis based upon what is seen. And then we can follow that up with genetics. That is unique. Not all genetic diagnoses have that component.

Daniel Levine: What is the TSC navigator?

Ashley Pounders: So, the TSC navigator is an online tool that we created to help guide individuals and families through the complexity of TSC across the lifespan, and proactively being able to manage their care and live to their fullest life.

Daniel Levine: This is something that could have lived as a pamphlet, but it’s fairly interactive and lives on a webpage. There are many links throughout. What was the thinking in designing it?

Ashley Pounders: Yeah, so we took a lot of time to really make sure that we were creating something that, you’re right, could have been created with a document, but we wanted it to be more than that. We wanted to listen to the community. And it’s one thing when you get a diagnosis. That is really hard to process when you kind of get slammed in the face with an 85 percent, 90 percent, chance your child’s going to have refractory epilepsies. It is really hard to digest. So, with Kari’s vision of all of this, we really looked to the community to support what is it about the information that we can provide and a different mentality? And so we really broke it down to ensuring that when they got to the navigator, it was empowering them as the user—that they were able to have control in a very uncontrolled situation to find the information that they wanted to find when they were ready to process it, and then being able to hide in the embedded aspect of the navigator more information that when they were ready to dive in deeper, or take a tangible takeaway from the navigator, that it was an option. And we realized we hadn’t really created that prior to this, so that is why we really felt really good about the overall development of the navigator so that the user was in control and was able to digest the information and process it when they were ready.

Daniel Levine: Well, who is the intended user and how do you expect them to use it?

Kari Rosbeck: So, I’ll take the intended user. We’ve really created this for people that were newly diagnosed with TSC or adults that got diagnosed with TSC, but also those that have been along the journey part of the navigator because it sounds like you’ve been through it quite a bit. It talks about medication access and what is specialty pharmacy and what do you do if your medication gets denied? So the beautiful thing about the navigator is that it’s there for caregivers, for individuals living with TSC or for family members to better understand what is tuberous sclerosis complex, what is this journey going to be like for myself or my loved one?

Daniel Levine: And what problem were you trying to address with the navigator?

Ashley Pounders: You know, I think the main takeaway for us is that we really want it to eliminate problems. So the overall goal of the navigator was to give the empowerment back to the user and have them get the information, to really understand all of these different barriers that can occur with medical access, medication denials, and really give them the insight knowledge to at least have an action plan with the first three steps to really empower them in their decision-making and be part of the care team should they experience one of these issues.

Daniel Levine: And how did you go about creating the navigator?

Ashley Pounders: We had a group of the community and then we also had a group of advanced practice nurses and TSC clinic coordinators that we really just jumped in and listened. We wanted to ensure that we were looking at all of the areas that they, as the community, experience with, “I don’t know what to do next.” And, “ I don’t even know what to do and a lot of the resources I have locally don’t even know how to guide me.” And then on the flip side of that, we really went to the clinicians and the coordinators who really help mitigate these issues on the front lines. And we kind of just combined the two to say, here’s how we want them as the user to kind of reflect and process it, but also guiding it with the experience of these clinicians to really empower them with excellent resources to really understand the process that they are getting into as well.

Daniel Levine: Having those conversations with the community, anything come up that surprised you?

Ashley Pounders: I don’t think from my standpoint. I think our community does a really good job at articulating the frustration. I think the main issue for them at times was really having that information available that is not always talked about and making sure that we were looking at it across the lifespan and also the caregiver. And you don’t really see that whole picture, of not just the individual who has the diagnosis, but the collateral aspect of that dynamic. And we really just took it all in and we listened to them, we listened to our clinicians, we listened to so many things that are experienced in the process—and I’ll let Kari jump in here too—but it was really important to us to ensure that the voice of the issues was being heard and that they felt that the concern that they feel about being overwhelmed. We just didn’t want to create another product or another resource for them to just not know how to navigate.

Kari Rosbeck: Yeah. I remember that we had a webinar with our community leaders and Ashley so beautifully demonstrated an early prototype. I remember this one mom, she’s a little bit down the journey—she doesn’t have a newborn with TSC, but she started crying and she said, “I wish I would have had this when we just got the diagnosis because there are some people that just want enough information to be able to navigate the day, and there are some people that want to take a really deep dive.” As Ashley said, we’re empowering the user to decide how much information they want to digest.

Daniel Levine: One of the things I found interesting is that you included a section called Stories of Hope, which is not something you might expect to find in a type of resource guide like this. Why did you choose to do that?

Kari Rosbeck: I think that hope comes in many different sizes, and it’s about the journey, right? So it was really important, and something we’ve heard from our community is they want to see what the journey is, they want to know what others have done before them. They want to see how families have coped with TSC. What are the steps that they took and how they’re doing. And there’s beauty in the journey, as Ashley will often say. And it was really important to us to include those stories of people living with TSC at all ages, because this is a lifelong disease. So, we wanted to demonstrate that for people coming to the navigator to understand what does TSC look like for a newborn or a two-year-old or a teenager going through puberty or somebody who’s 60 years old.

Daniel Levine: It’s interesting you mentioned that because the other thing I found striking was the way you had it broken down by age groups. I don’t know if that speaks to the nature of the disease and the way it progresses or the different types of issues people face at different ages, but what was the thinking in organizing it that way?

Ashley Pounders: Yeah, I think for us really representing the lifespan and associating that—you know, hope is subjective, hope comes and goes as you go on your journey, and it changes. So your hope when you’re at a new diagnosis phase is very different as you go across the lifespan. And I think it was really important that we highlighted that in our community to represent the uniqueness, but also not be so one-sided that we really only showed, one type of journey, and that does look different and we wanted to be inclusive of “it’s not just about a childhood diagnosis.” It is what is, what does it look like and what is hope and how has that defined it as a young adult or as an older adult and really represented those stories that are so empowering to new diagnosis or those who are just coming to the Alliance or to the navigator to really just get more insight of what other people are experiencing and then having them all at a location where they can identify at the immediate part of their journey.

Daniel Levine: One of the things I found particularly impressive about this is that you’re not just throwing this out to people and saying, “Hey, do the best you can.” You actually have what you’re calling support navigators. What is a support navigator? What is the role they play?

Ashley Pounders: Yeah, that’s the whole thing. As the TSC Alliance, we are in it for the long haul. We’re not just here to support you at the beginning of a diagnosis, or if something unfortunate happened. We are here no matter what, and having support navigators, I think, really highlights Kari’s dedication, as well as the rest of the team, to put these individuals in place so that we can develop a topic. We can develop content and we can educate them. But then, we take it a step farther by saying, okay, if you’re still having these issues, let’s connect with an individual who has expertise in these different areas. The staff is so robust at the TSC Alliance that we’re really able to cover a very broad range of resources, so it’s really just to highlight and get them connected as quick as possible to somebody who can be there and be a sounding board. And it might not be anything, it might just be, “I just need someone to listen to me because I’m the only one here in my entire community that understands this.” I just want to make sure that I don’t have to explain that to everybody, so I think that’s really powerful to the community.

Daniel Levine: Well, I should note that Ashley is one of the support navigators. This seems like it could be potentially time-intensive and very high touch. Have you had people use the feature and what’s it like to work with them if you’ve had that experience?

Ashley Pounders: Yeah. So, we have been able to connect and help individuals. And the thing I like best about the navigator is it sets the user, as the individual, to already have their first action steps to mitigate an issue or experience the journey and be able to ask questions. And then once you get connected to a navigator, you have content to really discuss and it really helps streamline and expedite any issues or concerns that have happened. So, by the time they make it to me, I already know what has already been done or where they are at in the process to overall just meet them where they are quicker and be able to deliver on whatever issue they’re experiencing.

Daniel Levine: What’s been the response from the TSC community.

Kari Rosbeck: The response has been tremendous. The very first day we had over 1400 users on TSC navigator. This obviously has been a tool that’s been much needed in our community for a long time. I mentioned early on that we have two FDA approved treatments; both require prior authorizations. One has lost exclusivity. So having the ability to have tools at your fingertips to know what to do to fight denials is so important. And I think it just meets so many unmet needs in our community in terms of walking people through the journey and is far less intimidating than just going to a website. It really is like taking somebody’s hand and walking them through the TSC journey.

Daniel Levine: Because this is on a website as opposed to a printed piece, is it viewed as a living document? Is there any provision to update it, expand it as you go?

Ashley Pounders: Yeah, I think that is exactly the goal—to constantly be in tandem with the community and grow with the needs of the community. I think the important aspect is that this is such a complex, disease at times and the management and the surveillance can be very overwhelming to families and there’s such a layer of decision fatigue. Being able to outline it and just take away one less decision really helps. So as we continue to grow, as the feedback from the community continues to grow, as we see issues that we can better assist the community, we will definitely be updating the navigator.

Daniel Levine: And how exportable do you think this is to other disease groups? Do you think it offers a model that other groups can follow?

Kari Rosbeck: I’ll start and then I’ll let Ashley jump in because I know she already has an example of this. The answer is yes, everything we do at the TSC Alliance, we are very transparent. We share with our rare disease partners and we hope that this will be a model for them if they want to do something similar for their rare diseases.

Ashley Pounders: A lot of that information that we highlighted in the navigator can be utilized across any rare disease because the challenges are so similar. We know that there are other organizations that have already highlighted it to their community. And really speaking on the fact that we’re not afraid to really talk about some of these difficult conversations about addressing the caregiver burnout and how can we proactively help you as the caregiver across your journey and make sure that we have these resources available to you. And I think that this resonates with any disease, but especially those that are in the rare disease community, because their challenges are much different than other diagnoses that can occur.

Daniel Levine: Kari Rosback president and CEO of the TSC Alliance and Ashley Pounders, director of medical affairs for the TSC Alliance. Thank you both.

Kari Rosbeck: It’s been a pleasure.

Ashley Ponders: Thank you very much.

This transcript has been edited for clarity and readability.