UConn Health’s Excellence in Huntington’s Disease Care

It takes expertise across many specialties to earn a designation as a Center of Excellence from the Huntington’s Disease Society of America. UConn Health has earned that designation, and is hosting this year’s Huntington’s Disease Education Day Oct. 26.

From UConn Health’s Huntington’s Disease Program, Dr. Shakaib Khan, medical director, and nurse practitioner Robin Zingales-Browne describe what goes into providing care and support for those with Huntington’s Disease and their families.

(Robin Zingales-Browne, Dr. Shakaib Khan, Carolyn Pennington, Chris DeFrancesco, October 2024).

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Transcript

Chris: Do you know someone with Huntington’s disease? Today on The Pulse, we talk about this rare neurodegenerative disorder with some experts and tell you about a resource for those whose lives have been touched by Huntington’s.

This is the UConn Health Pulse, a podcast to help you get to know UConn Health and its people a little better, and ideally leave you with some health information you’ll find useful.

With Carolyn Pennington, I’m Chris DeFrancesco. Huntington’s disease is genetic and there is no cure.

Carolyn: Optimal care for those with Huntington’s disease involves multiple specialties, all of them available at UConn Health. Today we welcome two experts from UConn Health’s Huntington’ Disease Program, which recently earned a Center of Excellence designation from the Huntington’s Disease Society of America. Congratulations on that! Dr. Shakhaib Khan, medical director, and nurse practitioner, Robin Zingales-Browne, thank you so much for joining us.

You have an important event to talk about, so we’ll talk about that soon, but before we get to that, let’s start with you, Dr. Khan. If you could tell us a little bit about Huntington’s disease for those people who aren’t familiar, how common is it, which folks are more likely to get it, that kind of thing.

Dr. Khan: Absolutely. Thank you for having us on here. It’s good to have a space where we can talk about Huntington’s disease because a lot of times it flies under the radar. So, Huntington’s disease is an autosomal dominant neurodegenerative disease which runs in families and is passed down from parents to kids at a rate of 50 percent and it has multiple different facets to it.

It affects movements, which end up being a big part of it. Then there are mood or psychiatric components to it. And then the last one is memory, which also gets affected. So a good way to try to remember it are the three M’s, which is movement, mood or psychiatric, and memory.

Most of the time, movements that get talked about in books, or if somebody does hear about Huntington’s disease, the term that gets used is choreoathletoid, or snake-like writhing movements. But what we know in the care that we provide is, movements are a whole spectrum. They can go from too many movements all the way down to a lack of movements or people feeling stuck, their muscles literally getting stuck so they can’t move around. And the term for that is dystonias.

The mood or psychiatric bit, there is a higher morbidity and incidence rate for almost every mental health condition when it comes to Huntington’s disease —

depression, anxiety, psychosis, irritability, apathy — and all of them happen at higher rates in people with Huntington’s disease compared to the general population. There is a higher risk of safety or risk to self with Huntington’s disease, um, and the two times in somebody’s life when we really get concerned are when they’re getting their genetic testing or they’re going to get the results, or when people start losing independence and mobility. Those are two of the highest risk times for suicides.

Chris: The genetic aspect of it. So, how does someone know to get a genetic test and how does that play into it?

Robin Zingales-Browne: Thanks for having us, Chris and Carolyn. So, I was just going to add to what Dr. Kahn said. And if one parent has the gene, the child has a 50 percent chance of inheriting that gene. And we are able to draw somebody’s blood, and see if they’re going to eventually develop Huntington’s. We know what gene, we know the abnormal proteins, and so we get a lot of families and adult children coming in and asking to be tested.

Usually they know it’s in their families. It’s something that they’ve seen maybe in relatives, maybe not in a parent. Sometimes parents die young, and that’s a whole mystery in itself. But most of the time they know it’s in their families and they’ll call us to come in for the anonymous gene testing.

Chris: Not so much to see if they have Huntington’s, but to see if they will pass it along to their children?

Robin Zingales-Browne: Yes, most of the time it is a — well, I should say that many times people come in just for family planning, and there are ways to have children without the gene. It’s a little complicated, but there are ways. And people want to know so they can also plan ahead for what’s going to happen down the road to them.

Carolyn: So what age do people usually start having symptoms?

Robin Zingales-Browne: It’s a wide range, actually. We used to say it was between the ages of 40 and 50, but what we’re finding is, people can start even later in life, and they’re called late-onset Huntington’s patients. And we have several of those up in their 60s who are living well and have quality of life, which is exciting for us to see. We do have, in our gene testing group, we have had younger people, like in their 20s, wanting to be tested, whereas in the past, most of these people had wanted to wait until they were in their 30s, even into their 40s. But we have had a real increase in people, young adults, in the 20s. I think that has to do with all the latest research, because if they’re positive, they can then seek out all the research that’s going on.

Carolyn: Like to be part of a clinical trial?

Robin Zingales-Browne: Correct. That’s correct.

Chris: Clinical trials are part of what you do, too, right?

Dr. Khan: Yes. So, at UConn, we have the Enroll-HD study, which is a registry where people can come in. It’s an intensive visit where they get tests for movements, cognition, mental health, and a blood test along with it, and we feed that data into a worldwide registry. So this study was started out in Europe, and now there are 160 sites across the world, and we just happen to be one of the sites for it.

Chris: The UConn Health Huntington’s Disease Program recently earned recognition as a center of excellence. I do want to talk about that, but I want to make sure we get the information about the education day on Saturday, October 26, before we get to that.

So that is happening at the Cell and Genome Sciences Building, at 400 Farmington Avenue, on Saturday the 26th, 8:15 a. m. to 12:30 p. m., and you’re both listed as speakers. Tell us about what’s happening that day.

Robin Zingales-Browne: It’s very exciting. Every year, we have a collaboration with Hartford HealthCare, the movement disorder group, as well as the Huntington’s Disease Program, the Connecticut chapter. And we’ve all come together to produce these education days every year. This year it’s our turn to host. So we have a committee with people from all of these sites, and we’ve come up with some of the topics that seem to be the most interesting from people.

Chris: The topics are “The 5 Pillars of Flourishing: The Pathways to Resilience,” “Huntington’s Disease Research Update,” “Physical Therapy in Huntington’s Disease,” and “Self-Care for the Caregiver.” Those are the four kind of breakouts there. Who’s a candidate to attend this?

Robin Zingales-Browne: Mostly it’s geared towards patients and caregivers.

Yes. And we’re going to have a breakfast and a lunch, and funds are coming from our Connecticut chapter so that we can do these things on a Saturday, so these patients and families can attend.

Carolyn: And the families are such a huge part of this, right, the caregivers? And that’s a part of what you deal with, right?

Robin Zingales-Browne: Right, exactly. I think that we all are in agreement that this is a family disease. Because if you have one person with Huntington’s, then you might, most likely you have others that are at risk. And how stressful is that? So we have for caregivers who are not at risk, or even who are at risk, we have a caregiver support group once a month. It’s a virtual meeting and people attend, they may go a couple months not attending, but it just depends on where they’re at. And I think I’ve learned more from that group than any book I’ve read on Huntington’s, because these are the people that are living it and they can teach the other people who attend some strategies of how to survive the challenges that come with this disease.

Dr. Khan: For the education day, it is geared towards families and caregivers but it it is also a good opportunity for other health care providers that might be interested in learning more, to get a brief overview of what it might be to either live with this disease or learn about current research or upcoming research.

And I know it gets very specialized once it is identified, but I think there are probably other providers that might come across this illness and it’d be important for them to be able to recognize if they come across this illness and even if they don’t want to be the ones treating, once it’s recognized, they can at least get the person to the right place so they can get the best treatment possible.

Carolyn: And as a center of excellence, you guys are the ones to ask all about it and offer your expertise. How did you get that designation?

Dr. Khan: So we have worked very hard towards the Center of Excellence designation. It has taken months to years to get to this point. There are some very specific criteria that a center needs to have to gain center of excellence. Some of them include having an appropriate number of patients. They want to make sure that you’re providing care to a good number of people. One of the other big things is having a multidisciplinary approach to treating Huntington’s disease. Because it is so multifaceted, the idea behind the center of excellence is having, at the very least, a neurologist who can address the movement part, a mental health provider, whether it’s a psychiatrist or an APRN, that can handle the mental health-related issues, and then the other big, big piece is social work. Because we know that as this disease progresses, people start having symptoms, those symptoms get worse, mobility gets affected, families get affected.

So at the very least, that is a core of what we start with. And then the sky is the ceiling from there, because you can have physical therapy. At your clinic, you can have occupational therapy, you can have speech, you can have nutrition. Weight loss ends up being a giant part of Huntington’s disease. As the disease progresses, people end up losing weight. There’s muscle wasting, there’s decreased strength, which again plays into mobility. So, at the core, we have what is required, and one of our goals is to continue to build up our center of excellence and hopefully add all of these other services.

We’re very fortunate that right now we have a program where when a patient comes in — and that’s saying a lot because for some of these patients it’s difficult to make it in, whether it’s a caregiver that has to bring them in, whether it’s their own mobility that’s affecting them coming in, transportation ends up being an issue — but when they come in to the Center of Excellence, they at least get to see a neurologist, a mental health provider, and social worker during that one visit. And then, at least there is a great starting point for them to get multiple aspects of their care addressed.

Robin Zingales-Browne: And I just wanted to add also that for the convenience, the feedback that we are getting is, ‘Oh, thank goodness. I only have to come here one time to see all of these specialists,’ yes. And I also agree and need to do a shout out to Kristen Vavrek, our wonderful social worker, who is amazing with the amount of resources she can offer these families and caregivers, because, as you know, the caregiver burden is high. Sometimes the patient is actually doing fine and the caregiver is just struggling along. So it’s very important that we have her involved.

The, the other unique thing that we have is we have gene testing. A lot of places don’t have a designated genetic counselor. And we’ve had Andrea Gainey, who is amazing, from the beginning, and she only does Huntington’s disease genetic counseling, and that’s a key because many people call, kind of have to think about getting gene testing, and she just continues to talk to them on the phone until they’re ready.

Chris: Well, it’s I think a very encouraging note to go out on, lots of things happening at UConn Health’s Huntington’s Disease Program, a center of excellence as designated by the Huntington’s Disease Society of America.

Nurse Practitioner Robin Zingales-Browne and Dr. Shakhaib Khan from UConn Health’s Huntington’s Disease Program, we’re going to put some more information in the show notes about the center of excellence and about the education day on October 26, and also, the Enroll-HD study, if you’re looking for folks to get involved in that, we’ll add that link as well. Thank you so much for your time today, and thank you for the work you do.

Dr. Khan: Thank you very much for having us.

Robin Zingales-Browne: Thank you.

Chris: That is our time for today. For Robin Zingales-Browne, and Dr. Khan, and Carolyn Pennington, I’m Chris DeFrancesco. Thank you for listening to the UConn Health Pulse. Be sure to subscribe so you can catch us next time, and please share with a friend.