Patient Resources and Support for von Hippel-Lindau Disease

CURE spoke with Stacy Lloyd, board member of the VHL Alliance, about VHL as a rare disease and resources available for patients to learn more.

Kristie L. Kahl: What exactly would you say is the impact following a VHL diagnosis?

Stacy Lloyd: VHL can be devastating physically, financially, emotionally. Research has actually shown that people with VHL have significantly higher rates of PTSD, anxiety disorders, depression, compared to those in the general population. I think it's an important detail that sets me apart from sporadic cancers is that a person with VHL has an increased risk for developing numerous tumors throughout their entire lifetime, with very minimal environmental impact. So this means like people in the general population can take active steps to prevent some of the development of those sporadic tumors. And they can often move past them after successful treatment. You hear about being in remission, you hear about being able to celebrate (being a) survivor. You don't have cancer anymore at a period in time. But those of (us with) VHL unfortunately, don't have that happening for them and constantly have to deal with that present threat of tumor development.

I like to call it the unknown. I mean, I go into the annual surveillance and testing every year. And I like to think that I'm really feeling good about things, but I always catch myself in the back of my mind feeling that little bit of like anxious for those test results to come back, right, because we just never know, and unfortunately, a lot can and six months or even a year (later). So it definitely has that impact for sure.

VHL also has an impact on some other aspects of life that, you know, above and beyond just worrying about the disease itself, it can be super financially draining. The cost of surveillance, you know, thinking about MRIs and surgeries, those are expensive monitoring and treatment modalities. And just the overall cost of care can be really daunting for patients, and can be further exacerbated by the inability to work for some VHL patients with severe or debilitating disease. So that definitely causes some additional emotional burden and stress for VHL patients over the course of their lifetime.

Kristie L. Kahl: When it comes to the psychosocial (effects) and those financial toxicities that you talked about, are there resources available for patients to visit if they do need help?

Stacy Lloyd: We actually put together, at the VHL Alliance, a list of financial resources that are provided by each of the clinical care centers, so many of them have our academic, nonprofit medical centers that have payment and support options financially for patients. Many of our patients have to travel to these Centers of Excellence, if you will. So there could be, you know, mileage cost, airplane costs, hotel costs for staying the course of its treatment, or if you're getting your regular exams and things. So there's often some kind of support, at the health system level, and then the VHL Alliance does as much as we can also to support in those areas as well.

Kristie L. Kahl: How does that affect a young adult who is maybe is trying to plan their family?

Stacy Lloyd: Family planning is aeally important, but, a really personal topic for people with VHL and their partners to consider.And every person who has VHL has that 50% chance of passing it on. Some people feel more accepting of the idea of having children with VHL, others are worried and anxious about the risk that comes with passing it along. And there's really no right way to feel about a child with VHL. it's been interesting, and I don't know if I consider myself a young adult anymore. I'm moving a little bit past that. But it was interesting to me to think about that as I was going through that period in my life, and we are so much more, you know? My generation and patients my age now are so much more informed. And we know we have this whereas, you know, when my mom was having me, she didn't know that this existed when my aunts were having their kids, my cousins, they didn't know and that was very common. People just didn't know that they were passing it on and the generation before. So I think there's some power that comes with knowing and being informed, at least when it comes to family planning that is really good for us today.

Kristie L. Kahl: Are there any resources where someone can go to find out at least what their options are?

Stacy Lloyd: In general, I think we're really lucky to live in a time where we have options for having a family in general. There's nothing preventing VHL patients from conceiving naturally, they can choose to do genetic testing or prenatal testing where they don't have to, but there's really nothing preventing conceiving. So you know, that's a good thing. But there are also options that allow someone to have a child (if you are someone) affected with VHL, if that family so chooses through IVF or through adoption.

At the end of the day, this is a really personal decision. But it's important for patients to explore all their options and do that in collaboration with their care team, their physicians, that really can support them, not only you know what the pregnancy, if that's the choice that is made, and explain the options, but also make sure that their own health is monitored if they aren't going through that process as well. So really important to just make your VHL care team, is a part of that conversation and decision-making process.

To add a little bit to wrap this topic up, per se, on a little bit of a high note, we're also living in a time where kids born today with VHL have a very different experience than patients diagnosed years ago, icluding myself. When I was officially diagnosed at 13, it was my second manifestation and tumor removal, I actually came out of surgery symptomatic, and I didn't go in symptomatic. So they scanned my entire body. And they found (I had) metastases to the bone. And I was 13 at the time, they told my mom that I would not be able to walk by the time I would be able to drive a car. I wouldn't walk at prom or graduation because of these tumors on my bones. So I'm now 35. I live an active, healthy life with regular surveillance. So I think that just speaks to how far what we know about VHL. And the surveillance and the treatment and the management of it has come today.

Kristie L. Kahl: What role does the caregiver play in VHL, and similarly, what resources do we have available for them?

Stacy Lloyd: Caregivers can come in a variety of forms. But I think it usually ends up falling on family members in some way, shape or form. So that may be parents, spouses, children, caring for their parents and other family members. And it's a multifaceted role. And it often changes with the changing of the disease itself, too. And how it manifests over the course of the lifetime. But it certainly can be challenging physically, depending on the severity of the patient's condition or situation a caregiver is experiencing.

They also have to often be the emotional support for that patient, our loved one as well. And all of this kind of comes with their own roller coaster of emotions, for not only the person worrying about the person that they're caring for but also trying to take care of themselves and have life and that's what a lot of caregivers often don't do very well is take care of themselves while they're taking care of others, right?

So we definitely have quite a few resources, both downloadable resources on the VHL Alliance site. But something else I think that is unique to the VHLA is that we have these monthly support calls, where there is a life health coach that actually is trained to facilitate these and provide space for VHL caregivers to come together, talk to each other and just really be together, ask questions, share what they're going through. So I think, creating spaces for those conversations among caregivers that don't include patients or don't include other people, but really just who can actually sympathize and empathize with what they're going through, I think is a really awesome resource for the caregivers in our community. And this can also be a really important conversation for that young adult group. And that may be dating. Like I said, often a partner or spouse ends up being in that role of the caregiver. And that's something that can be really difficult to discuss. And, you know, it has often, even with me, felt like I'm signing someone up for the unknown, and that comes sometimes with some guilts for patients as well, because we really can't predict what this disease will look like over our lifetime. So I think that's just another element of the caregiver and thinking about who the caregiver is, and how you enter into those scenarios that is really important from a young adult perspective as well.