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In this episode, we have Bruce Rosky, who is a patient advocate. Bruce shares his personal journey as a caregiver for his wife Jennifer, who was diagnosed with adult polyglucosan body disease (APBD), a rare neurodegenerative disorder. He talks about the challenges he faced as a caregiver, how he coped emotionally with the diagnosis, and how he found support and resources to help him in his role. Bruce also shares his insights on how to balance the practical and emotional aspects of caregiving and how to find ways to adapt to new challenges. Join us for this insightful and inspiring conversation.

Bruce Rosky is a patient advocate.

He shares his story and discusses his KevinMD article, “A couple’s journey with a rare neurodegenerative disorder.”

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Transcript

Kevin Pho: Hi, and welcome to the show. Subscribe at KevinMD.com/podcast and get CME for this episode by clicking on the CME link in the show notes. Today on the show we have Bruce Rosky. He’s a patient advocate. His KevinMD article is titled “A couple’s journey with a rare neurodegenerative disorder.” Bruce, welcome to the show.

Bruce Rosky: Well, thank you very much for inviting me.

Kevin Pho: We’ll get to your article in a little bit, but first off, just briefly share your story and journey to where you’re at.

Bruce Rosky: So my journey is with my wife, Jennifer. We’ve been married for 33 years. I’m a retired civil servant; she’s a retired marketing executive. We have three adult children, and our journey with APBD began between the years of 2008 and 2012, when we had a string of issues where Jennifer was beginning to forget things. She was forgetting her client contacts, she was confused and unable to organize her work, and she was beginning to forget to pick up her youngest daughter at the bus stop. I thought these were just a byproduct of her very busy schedule, but, you know, it’s kind of like a frog in the water. I wasn’t noticing the progression until one day a friend of mine, in I think it was 2011 or 2012, brought it to my attention. She said, “You know, Bruce,” my friend had just lost her sister to brain cancer, and she said, “Jennifer is having symptoms very similar to what my sister had. I really think you should have it checked out.”

So we went to a neurologist, who took an MRI, and it yielded a tremendous amount of white matter in her frontotemporal lobe area. But she passed all of her tests at the neurologist’s office quite well, so what he said he wanted to do is just continue to monitor it, because he couldn’t come up with the proper diagnosis at that time.

So after four years of monitoring it, not having any change either in her MRIs or in her behavior, except for the fact that it seemed to decline a little bit, a cousin I was visiting, who had visited periodically, said, “You know, Bruce, you need to push this a little more. Something’s going on with Jennifer, and it’s more than just general forgetfulness.” So, addressing the neurologist, he sent us to UCLA, where, after a visit with three neurologists and a couple of tests, we ended up in the exam room with Dr. Brent Fogel, who took a history of her symptoms: her neuropathy, her feet being very numb, and her incontinence, which was something else that we were struggling with, and we attributed it to a previous situation that she had many years ago, as well as her forgetfulness and, more importantly, her family history, which is through the Ashkenazi Jewish population. And he said, “We probably need to do a genetic test,” because, he said, there were one or two things we needed to rule out. And the genetic test yielded the fact that she had this very rare disease called adult polyglucosan body disease, which is an autosomal recessive gene inherited from her parents. Neither of them had the disease, but they carried the recessive gene, and they came together in Jennifer, which was something she’s had her entire life.

Kevin Pho: All right, so this is the rare degenerative disorder that we’re talking about, APBD. So tell us a little bit more about that, because I’m a physician, and I’m going to be honest, I don’t know too much about that. What are some of the characteristic symptoms and presentation, treatments, and prognosis? Just give us a brief overview of that.

Bruce Rosky: So I’m not a doctor either, but what I know about APBD is the body has the ability to produce glycogen, which is basically stored energy that it releases back to the body for the body to function correctly. What Jennifer lacked, or what she had, was a mutation in what’s called a GBE1 gene. Now, that’s kind of a very detailed comment, but the GBE1 gene is the one that regulates the proper synthesis of glucose into glycogen so it can be utilized. What Jennifer’s body does is produce glycogen in a malformed manner that can’t be processed and can’t be absorbed into the body. And so then the question was, where does it go? Well, it ended up that it gets hooked onto neurons and nerves, and it ends up ultimately messing up the communication between different parts of the body and the brain, ultimately challenging the autonomic functions of the body, starting out with, well, in Jennifer’s case, we were observing the cognitive decline as one aspect of the illness, but it doesn’t happen in everybody.

Jennifer also had a neurogenic bladder, where she was having challenges needing to void, not voiding when she needed to, etc. And she also had numb feet; she described it as walking on pebbles. So those were our first signs. Of course, the cognitive decline was our leading indicator and why we went to the neurologist; the others just seemed like general aging issues. In fact, I believe APBD is probably a very misdiagnosed disease, where it’s most often diagnosed as something else, and that was Jennifer’s path. Other people have paths where they have like an ocular atrophy, or they have swallowing issues, or there are other aspects that they come into contact with. And so everybody seems to have a symptom of something, and people then try to figure out what’s going on. We were quite fortunate in our particular case: We didn’t have a misdiagnosis; we just had no diagnosis, and we were in search of a diagnosis for the four to five years that we were meeting different neurologists.

Kevin Pho: So you went to UCLA, who made this diagnosis. How did you and Jennifer cope emotionally with that? What was your reaction when you first heard this diagnosis?

Bruce Rosky: Well, you know, if you were to ask me what was said in the room at that point in time, I probably wouldn’t remember the whole conversation. In fact, I don’t even think, well, I’m sure he did explain what the disease meant or what it entailed. We just heard “APBD,” we heard “no cure,” and then I heard “address symptoms as they come up.” It felt somewhat settling to have something that I could latch onto and say, “OK, this is something.” That’s my brain working. And then we would just address, you know, symptoms as they would come up.

Jennifer’s first question was, “Will I die from this?” And he very honestly said, “No, APBD won’t kill you. However, it will impact all of your systems, and something will happen that probably will kill you.” To this day, I don’t think she’s really processed and understood what APBD is. But for the first number of years after we were diagnosed, we were just addressing, very easily, the symptoms as they would come up. So it was more of a “This is a problem; how do we solve it? This is a problem; how do we solve it? We have more urological issues; what’s our solution for that?” And so that’s how we were kind of approaching it, as well as just support for her ability to move around, her mobility issues. They were progressing as well. When we started, she was able to walk on her own, then she needed a cane, and then we needed a walker, and so we were using a walker for a number of years, and now she’s pretty much in a wheelchair. And she has some comorbidities as well, which don’t help, in terms of sleeping issues. She has narcolepsy and sleep apnea, and those aren’t helping.

So it’s easy for us to address the cognitive issues, and the emotional issues are a whole different aspect. It really wasn’t until this past year that I’ve been faced with dealing with the emotional issues of caregiving, both for her and for myself. She is a very accepting individual. She’s wonderful in terms of dealing with her situation, and every day she apologizes, and every day she tells me how much she appreciates me. And every day, no matter who walks into the room, whether it’s a caregiver I have, or at the doctor’s office, or a nurse who’s changing her suprapubic catheter, she says, “Thank you very much. I appreciate you so much.” And so, from a caregiver-to-patient standpoint, Jennifer is a cakewalk, because she’s a very, very good patient. But her illness is progressing, and it’s hard from my standpoint as a caregiver to kind of resolve a lot of the emotional issues that come about, both as her husband and as her caregiver.

I’m in three caregiver groups, and we’re in a number of programs. One is through the Pacific Neuroscience Institute, and it’s headed up by Dr. Karen Miller. It helps us; it gives a curriculum, so she has an activity to work on her cognitive skills. As well, they have a FitBrain gym there, where you do cognitive and movement at the same time. And then we have a support group that we meet with. So I have that one support group, I have one through the APBD group, and then I have a second one through the Pacific Neuroscience Institute that I meet with, and those tend to be my lifelines in terms of getting information, sharing thoughts, concerns, and fears, and just understanding what’s going on in my own brain. They have something called the seven emotions of caregiving, and I find myself kind of vacillating between all of them in terms of anger, fear, worry, resentment, etc.

Kevin Pho: When you were first thrust into this caregiving role, was there any guidance initially? How did you learn to do what you needed to do as a caregiver?

Bruce Rosky: Kevin, that’s an excellent question. Quite frankly, dealing with the medical issues was a much easier solution. It wasn’t until this year, when we had a number of hospital stays and as her illness was progressing, that I saw there were so many different aspects of it. Not only does she have neurological issues and her mobility issues, but now her body temperature can’t get regulated, and her blood pressure seems to be all over the board. Now she’s having gastrointestinal issues. And I asked the neurologist at UCLA, I said, “Well, I need to,” you know, we came in, we got our diagnosis, we were referred to a genetic counselor, and I asked, “Can I speak with your social worker? Because I really need some guidance on how to proceed with this.” And he said, “We don’t have one in our department.”

And so that forced me to look through my own resources, which is when I began to get more involved with the Adult Polyglucosan Body Disease Research Foundation, in terms of resources they had, as well as the cohort of people who we get together with, and to find out what’s going on with other patients. I can kind of track Jennifer along the lines of some of the other patients that the other caregivers are taking care of. But it basically is kind of on-the-job training. I’ve done some reading in different books to try and get a sense of where I’m at from a caregiver perspective, but there’s no road map, and there’s no direction in terms of how to address this particular issue, which is probably the most frustrating aspect. I don’t know what to look for next, and so everything becomes, again, a little bit of a panic situation. I don’t know whether or not it’s attributable to her APBD or if it’s just because she’s tired, or things such as that. So there was no clear direction on how to manage the situation, other than do your best to address symptoms.

Kevin Pho: Of all the things that you mentioned, what would you say are some of the biggest challenges that you had to overcome as a caregiver?

Bruce Rosky: I think the challenge is probably maintaining balance and finding and keeping myself grounded. You know, when an emergency comes up, the adrenaline kicks in, and it’s easier to address the issue. But, you know, we’ve spent many hours in emergency rooms, educating the emergency room doctors and educating the emergency room staff on what she’s going through, and then they have to, sadly, Google it to find out what it’s all about. And so it’s a challenge that there’s not a lot of information that’s being taught. I know you can’t learn all the diseases that there are out there, but it is a very frustrating aspect. So the challenge is really getting her the attention that she needs and keeping her support at the best we can.

Kevin Pho: I like to ask this question to patients, their advocates, and their families, because sometimes, from the physician point of view, we often don’t know what it’s like on your side, seeing things through your perspective. So through your interactions with the health care system during this journey, what are some things that it did well, and what are some things that they could improve on?

Bruce Rosky: Well, we certainly get very good care. I always consider it a weird disease. We get very good care whenever we walk into the emergency rooms. Here’s what I wanted to do after one emergency room visit. Jennifer gets hypothermic, where her body temperature gets down into the 90, 91, 92 range, and when it goes below 90, we had a couple of incidents where she had some cerebral edema, and she had some seizures, and she was basically in a coma for a day or two. As she came out of it, I asked, “How do I prevent hypothermia?” And although we get really good care in the hospital, I didn’t get advice on how to prevent this, or at least how to pay attention to it.

And so I literally take her temperature three or four times a day and constantly have the heat on in her room to make sure that it’s always at a very high level, which means going out into the community or going outside, unless it’s warm outside, is a challenge, because she’ll get cold very quickly. The treatment we’ve been getting is really good. The prevention for some of these issues hasn’t been as nice as I’d like it to be, nor has providing the social work support when we kind of needed it to figure out how to turn our path.

Kevin Pho: Tell us about a typical day, and there may be no day that’s typical. What’s a typical day like for you and Jennifer these days?

Bruce Rosky: You’re right, there’s no typical day. We’re having lots of challenges these days with Jennifer sleeping, and so we’re lucky to get two to three hours of sleep every evening. She does have sleep apnea, so she gets the most beneficial sleep when she wears her CPAP machine, which is the constant pressure. But because she has cognitive decline, you know, every day when we put it on, she’s unclear why we’re doing this, and she hates it, and she hasn’t really adopted it. So oftentimes, I have an evening caregiver. About six months ago, I realized that if I’m going to get any sleep whatsoever, I need somebody to pay attention to her at nighttime. There were many times I would wake up and she’d be on the floor because she tried to get up and she either wasn’t awake or she was too weak, or it could have been any one of a number of circumstances. And so to prevent that, I just have somebody there all night long. She hands her over to me in the morning, and I have to address Jennifer.

She has a suprapubic catheter, so we have to maintain the catheter bag; we have to change that every morning. I have somebody assist me a few mornings a week with Jennifer in terms of laundry, taking care of her room, and getting her bathed. The days that they’re not there, I usually give her a shower. Jennifer is moving very slowly these days, so there’s not a lot she can do. We have physical therapy, oftentimes three times a week, and occupational therapy. We have a program at the Pacific Neuroscience Institute that we go to.

Jennifer blossoms when there are other people around. She really enjoys social interaction. I consider a trip to the doctor’s office social interaction. It’s time-consuming. We try to bring people by, but I have noticed illnesses of Jennifer’s kind are not something that people know how to address or deal with, and so many people, through the best of their intentions and otherwise, have not come by to be able to be with her. We’ve had a few people who have impressed me significantly with their ability to come by and visit.

So through the course of the day, we get ready. We’ll plan for the appointments that we have. She loves to crochet, so she does that, and I put things around her that she can do. I try to make sure she’s awake and sufficiently at her desk when I have to leave to either run a quick errand or go to the grocery store, but I’m pretty much tethered to the house unless I have somebody else around to kind of watch her a little bit. In fact, we did have a situation recently, which I won’t get into because it’s complicated, but it made me think of what would happen, whatever the situation, if I just couldn’t be there every day, if I had to be taken out of the house for whatever reason. So I’m working on solutions to that as well and getting people lined up who can walk in the door if I have to walk out of the door.

Jennifer does really well in terms of making sure she gets food in her system. She’s a terrible drinker, but I think that’s common among people with cognitive decline; they just forget to drink. We do a few exercises that we can, but she won’t do them unless I’m there. We do have a pedaling machine that she can use at her desk. And in the evenings, we’ll just spend time together, whether we’re watching something on Netflix or one of the streaming channels, or we’ll play music, and she’ll do her crocheting, and I’ll do my reading, and we’ll just spend time together. And then I’ll try to get her to bed somewhere between 10:30 and 11, in the event that those are the days that I don’t have an evening caregiver. Most of the time we do have an evening caregiver, and they’re truly helpful and have been very good for Jennifer, because it’s another face that she gets to see.

Kevin Pho: Now, let me ask, how are you doing? As you know, there’s a phenomenon called caregiver fatigue. Tell me some of the things that you’re doing to either address or prevent that.

Bruce Rosky: I am trying to maintain a routine exercise regimen; that’s been beneficial to me. I just recently went back to my nutritionist, who I went to a number of years ago, and I said, “You know, if you cut my veins, all that would come out is cortisol.” So we’re working together on trying to get my systems working to get the cortisol out of my system as efficiently as possible. I find that caregiver groups are very grounding and very helpful, and anybody who’s going through this as a caregiver, you can’t do it alone. I think that’s one of the realizations I made on this journey: Thinking I was strong enough to do it alone and not needing the help of anybody was woefully inaccurate.

I also find just getting out once a week with my former colleagues and friends is very helpful. It makes me feel more normal. What we often talk about in our caregiver groups are our new normals, and I think that’s kind of a misnomer, because I don’t think any new normal is a new normal. It might be your way of how you live your life, but I can’t consider it a new normal. And I do find, for myself, being out with social interaction is where I can feel more engaged and have a different focus, because when I’m at home, my entire focus is just making sure Jennifer is taken care of and she’s got what she needs.

Kevin Pho: We’re talking to Bruce Rosky. He’s a patient advocate. His KevinMD article is titled “A couple’s journey with a rare neurodegenerative disorder.” Bruce, for those other families who may be undergoing similar situations to what you and Jennifer are going through, what kind of advice do you have for them?

Bruce Rosky: From a cognitive caregiving perspective, learn as much as you can in advance. What I’ve asked for, but nobody’s been able to provide, not because they couldn’t provide it but because they just don’t know, is what to expect next. From an emotional side, I think, take nothing for granted. That was shared with me many years ago by a college friend who lost their spouse unexpectedly, and I really never took it to heart until this past year, with our near-tragic experiences in the emergency rooms and going through comas. I try to make sure every day counts, and try to be mindful of where we’re at and what we can do, and appreciate that, however minor or trivial it is. Jennifer doing her exercise gets a high five. Being able to have a decent conversation is always very rewarding. And even, I’ll just sit around and hold her hand, and it relaxes her, it relaxes me, and it helps with our anxiety in general. So I think those would be recommendations: connect, be mindful, and be diligent.

Kevin Pho: And my final question, Bruce: Tell us some of your take-home messages that you want to leave with the KevinMD audience.

Bruce Rosky: I think that the technicians, the medical technicians, the clinicians, I guess we call them, have been really very helpful in terms of the medical side of what’s going on, but it’s so important to address the softer side of these kinds of illnesses, in terms of what to do, how to manage, and what to expect. Quite frankly, I know that there’s a hesitation to predict the future and how it’ll be, but knowing what the future could be kind of informs what we do now. And although it might have been a harsh conversation to have, and a difficult conversation, it would have been really helpful for us to know some better examples of Jennifer’s disease, APBD, and how patients live through it and how to manage it, both cognitively and emotionally. And the more that can be done along the way would be fantastic. And then, of course, continued research to find a solution, and/or, if possible, even a cure.

Kevin Pho: Bruce, thank you so much for sharing your story, time, and insight. Best wishes to both of you, and thanks again for being on the show.

Bruce Rosky: Thank you, Kevin. It’s been a pleasure.