MAUREEN CAVANAUGH (Host): I'm Maureen Cavanaugh, and you're listening to These Days on KPBS. When you think of hereditary diseases, you might think of hemophilia, or cystic fibrosis or muscular dystrophy. But one of the more common and most devastating genetic diseases is often overlooked, Huntington's disease. More than a quarter million Americans have HD or are at risk of inheriting the disease. Its onset usually occurs in the prime of life, causing brain cells to die and robbing people of their ability to walk, talk, eat and think. People who have Huntington's, or who have lost family members to the disease, are working to raise awareness during the month of May. At present, there is no cure for HD and no effective treatment. Here to talk about the latest research into HD and how the disease affects individuals and families are my guests. Dr. Jody Corey-Bloom is a neurologist at UCSD Hospital. Dr. Bloom, welcome to These Days.
DR. JODY COREY-BLOOM (Neurologist, University of California San Diego Hospital): Thanks, Maureen.
CAVANAUGH: Misty Oto is board member of the San Diego Chapter of the Huntington's Disease Society of America. And, Misty, thanks for coming in.
MISTY OTO (Board Member, San Diego Chapter, Huntington's Disease Society of America): Oh, thank you, Maureen.
CAVANAUGH: And Kari Hartmann, is a student and an intern at the Huntington Disease Society in San Diego. Kari, welcome.
KARI HARTMANN (Intern, Huntington Disease Society, San Diego Chapter): Hi. Thank you.
CAVANAUGH: We invite our listeners to join the conversation. Do you know a family affected by this genetic disease? Share your story about Huntington's disease. You can call us with a question or a comment at 1-888-895-5727, that’s 1-888-895-KPBS. Dr. Bloom, am I right in saying that there is no treatment for Huntington's disease?
DR. COREY-BLOOM: Well, I think you’re right in saying that there’s no cure for Huntington's disease currently but we, as neurologists, really specialize in treatment and care. And so I think our focus is definitely on the symptoms of Huntington's disease and how to make life better for patients who suffer with it. For example, currently, we have a medicine that can help with the chorea and that medicine can, you know, affect the motor problems that the patient has but it doesn’t actually change the underlying disease, unfortunately.
CAVANAUGH: How common is this genetic disorder?
DR. COREY-BLOOM: Well, it’s very common. It’s been estimated actually in the western world that it’s actually one in 10,000, so it’s really, really quite common. I think a lot of times people don’t talk about it or don’t know about it, and so we’re often surprised to suddenly find out that families, quote, have Huntington's disease. And I think one of the gratifying things that’s occurred, at least for me since I’ve been working in this field, is just, you know, seeing how many people, you know, feel comfortable to sort of come out, if you will, and sort of tell us that, yes, I have Huntington's disease in my family, that kind of a thing. And it’s often very surprising from, you know, people who work in the university with you to people who are athletes to people who are personalities, and so just many people from many walks of life actually have Huntington's disease in their family.
CAVANAUGH: Dr. Bloom, if you could, tell us what happens to the body and brain of a person who has Huntington's disease.
DR. COREY-BLOOM: Well, we often talk about the triad of symptoms. So the most characteristic physical symptoms, for example, would be motor symptoms. Sometimes they’re jerky, random, uncontrolled movements called chorea. Sometimes they’ve kind of stiffening movements of the body such as rigidity or dystonia. So those are some of the motor symptoms, problems with actual motor function, problems with walking, problems with balance. And then we have cognitive problems. Usually it’s common that individuals will develop problems with abstract thinking, planning, using information to solve problems, that kind of thing until it actually progresses to full blown dementia in some cases. And then psychiatric issues, there’s often depression, sometimes suicide, probably not surprisingly, and then obsessive-compulsive disorders, irritability, those kinds of things.
CAVANAUGH: I read it – I read Huntington's disease described as something like a combination of Parkinson’s and Alzheimer’s. Is that sort of it?
DR. COREY-BLOOM: Hmm, interesting. So I know a little bit about both and I think – I think to some degree that’s sort of a reasonable comment mainly because when we think about Parkinson’s disease we think about the motor abnormalities and so the difficulty with walking, with gait, with balance, those kinds of things, the tremor. When we think about Alzheimer’s disease, I think that we think more about the cognitive problems, the memory loss and maybe some of the psychiatric issues. So, in a way, yes, you could say that it’s sort of a combination. The big difference is that those are both sporadic diseases and so they occur but they occur without any sort of early knowledge of it necessarily occurring later on. They occur in older people generally. So we call them – and these are sporadic neurodegenerative disorders mainly. There are some genetic forms. But I think the main difference is that they occur to older people. The problem with Huntington's disease, I think the thing that really pulls at all of our heartstrings is the fact that this tends to occur to people early in life, in their thirties, their forties. I mean, even teenagers can develop this disease and it’s a genetic disease. So people grow up with this in their family. It’s kind of always hanging over their head. Whether they have the gene or not, they’re living with it in their family.
CAVANAUGH: Two of my guests in studio have had family members with Huntington's disease and have been nice enough and generous enough to talk to us about it today. I want to reintroduce them. Misty Oto is board member of the San Diego Chapter of the Huntington's Disease Society of America, and Kari Hartmann, a student, an intern at the Huntington Disease Society in San Diego. Kari, let me start with you. Your dad had HD. In fact, he recently passed away from the disease. Tell us a little bit about his symptoms and how the disease affected your family.
HARTMANN: Well, I was very young when his symptoms started. I was about six or seven years old. So a lot of my memories are very blurred but the things that I remember the most are definitely his balance, his memory loss, his – not so much his irritability but just more of a little bit of mood swings, just the very standard things. I mean, they obviously progressed over the years and became much worse but those were definitely the things that I remember noticing right off the bat.
CAVANAUGH: So for most of your life, your dad was sick.
HARTMANN: Yes, correct.
CAVANAUGH: And what kind of effect did Huntington's disease have on your whole family?
HARTMANN: It – I mean, it completely changed and altered our entire family dynamic. It was – it made our lives very different from the lives of people around us, you know, in our neighborhood and at school. We didn’t have so much of a, quote, unquote, normal life. It was more centered around taking care of my father, making sure he had everything that he needed and just doing our best to accommodate him the best as our family could, financially, emotionally, anything like that.
CAVANAUGH: And when did the understanding that this is a genetic disease and that you might be at risk for it yourself begin to dawn on you, to become a presence in your life?
HARTMANN: Well, it’s always been open in my family. It was never hid from my younger brother or myself. But I guess my earliest memory of HD at all was when I was seven and my parents sat my younger brother and I down and told us that my dad was moving to an assisted living because he couldn’t – we couldn’t provide the care that he needed at that point. So I guess that was my biggest memory of really – I don’t think I really comprehended at that time because I was so young that it could end up being my fate as well. But definitely as I got older, like eleven, twelve, even thirteen and fourteen, looking into the testing process and looking more into the disease as I watched my father deteriorate.
CAVANAUGH: Now how has this – this must be an evolving thing in your mind. When you enter into different relationships, when you take different courses and so forth, how has this understanding that you might be at risk for HD, how do you think this is changing your life?
HARTMANN: Well, it complicates everything. Even though my father has passed away and the disease is no longer, as of right this moment, a burden on our family, it’s still – I still have the constant worry, what if I have it? What if my brother has it? I still have family that’s affected with it, so no matter what, I mean, even though this timeframe is like maybe a little break from HD, it’s going to be in our lives forever, so it complicates everything. It definitely complicates relationships. I mean, growing up and dating and things like that is hard enough, let alone to have that extra burden or that extra baggage, you could say, to put on someone saying, oh, you know, if we were to ever one day get married, you know, you might be – end up taking care of me, you know, 20 years down the road. It’s definitely a lot to ask of someone.
CAVANAUGH: It certainly is. It’s certainly a burden to carry with you. Misty, you’re a board member with the San Diego chapter of the Huntington's Disease Society of America.
CAVANAUGH: Your family also has a history of HD.
OTO: A long history.
CAVANAUGH: Can you tell us about it?
OTO: You know, Maureen, this has been in my family for many generations. It just seems to – we can’t seem to escape it. My earliest memory was my grandmother who had it, and she died at 61. And she was one of 10 kids. Out of all the 10 children, she was the only one who had inherited it. And she passed it on to all three of her children, so my mother, her twin, and her older sister. And I lost my mother in 2007 and then her twin sister just passed away in February. And so I saw my mother suffer for 18 years. That’s how long it took for this whole disease process to take my mother. And I saw my brother, who was symptomatic, who passed away in November of last year. And I have another sibling who’s now positive, and I have three others that are at risk.
CAVANAUGH: What is your organization’s mission? Is it your feeling that Huntington's disease, considering how, as Dr. Bloom told us, this is a rather common genetic disease, as genetic diseases go, and it certainly has devastating consequences but most people really don’t know about it?
OTO: Absolutely. Awareness is really difficult. It’s not a very attractive disease, and a lot of people are afraid to come out because there is genetic discrimination because the ages groups of 30 to 50, so many people are working and are afraid they’re going to lose their jobs, are afraid to be even tested because of the complications with insurance, whether they can even get longterm care or are afraid to lose their insurance in general. So, so many people are afraid to come out and talk about it. And because of that, that makes awareness difficult. We don’t have any really celebrity face to put to this disease. Woody Guthrie is our only celebrity. Woody Guthrie was a famous folk singer that…
CAVANAUGH: That’s right.
OTO: …so many people now in this generation that are coming up have no clue who this man was, and that really isn’t a great face for Huntington's disease.
CAVANAUGH: Well, I didn’t even know he had it.
OTO: Yeah. Yep, Woody Guthrie, yeah, he had Huntington's disease and that’s what, you know, took him and actually that’s how the Huntington's Disease Society of America started. The Guthrie family formed it in New York.
CAVANAUGH: That’s interesting. Dr. Bloom, as – how do – how is this genetic disease passed down through families? Do we know how? Is there a recessive gene? How does it work?
DR. COREY-BLOOM: So Huntington's disease is inherited in an autosomal dominant fashion. And what this actually means is there are two copies of each of the gene, one from the mother, one from the father. And we now know that it’s what we call a trinucleotide repeat disorder so the person – the actual protein that the gene codes for, Huntington, is actually a normal protein. We don’t know what it does, but it’s a normal protein. What happens in Huntington's disease is that there are expanded copies of the allele, and so as a result too many copies change the characteristics of the protein and the protein ends up clumping in the cells and essentially killing the cells, the important cells in the brain.
CAVANAUGH: Well, let me ask you something that a lay person might be more able to understand. We know that with, let’s say, hemophilia that someone who does not have the disease can pass it to someone and give them the disease. It’s my understanding that only people who have Huntington's disease can pass it to the next generation, is that correct?
DR. COREY-BLOOM: Yes, that’s exactly correct. And so if the generation does not have the gene at all, it will not get passed on to the next generation.
CAVANAUGH: Now in the early nineties a test became available that can tell you if you do have the gene for Huntington’s or not, and I wonder, Dr. Bloom, can you talk about the mental and emotional stress that someone goes through when deciding to get tested or not to get tested. And I want to – I’m going to be talking to our two guests here in the studio but if you can give us some background, I’d appreciate it.
DR. COREY-BLOOM: Yeah. So I think it’s very stressful. I can’t talk about it from a personal side but Misty, for example, can. From our side, it’s actually very stressful because we follow HDSA guidelines for testing. We always bring people in, we talk to them about the implications, we have a genetic counselor there. We always ask the person to bring someone with them, a support person, and we actually go through a lot of discussion about Huntington's and the potential implications on their life. We then have to draw the blood and, you know, have the tests run in the genetics laboratory. And then basically bring them back again to give them the results, and that’s, I think, the hardest part. It is just so hard. We spend sometimes that week or two in between saying to each other, I hope they’re not positive. You know, I hope they’re not positive. And it’s just – because you know that it has just such a devastating effect on the people. And I wonder sometimes if they realize how devastating it is on us, too.
CAVANAUGH: Misty, I know that after a long time thinking about it, you did get tested…
CAVANAUGH: …for HD. Why did you decide to be tested?
OTO: You know, if you would ask me a year ago if I was going to be tested, I would’ve said no way. There’s no reason. There’s no cure. Why would I even put myself through that process? And to know that I have this black cloud over my head and that there’s nothing I could do about it. But my sister, who is older than me, who’s going to be 40 this year, said to me, I want to be tested, I’m having some type of symptoms and I want to know how I’m going to proceed in my life. I want to know if you can be my caregiver if I needed one. And I said, of course, absolutely, I’ll be there for you. And then over thinking about it, I said, wow, how can I be her caregiver if I’m going to be sick myself? We’re going to be in the same nursing home together. So that’s what was the big catalyst for me to get tested. And as soon as I was thinking about that, I contacted, you know, Dr. Bloom and doc – Jody Goldstein at UCSD and I made arrangements for me to be tested. And that was a very interesting process because I did have to go through questionnaires and genetic counseling and I need to know, in my frame of mind, that this was the right decision because there’s no turning back. Once you know and you have seen for yourself what is the process of disease that is going to take you, I literally saw my mother deteriorate from this person who was very vibrant, very active in the Lions community, very – I mean, one in a million. And everyone says about their mother, but my mother truly was one in a million. And I saw her die twice. I saw this 4’10”, 100 pound spitfire become an empty shell of a person, and then I lost her finally, at peace. So the process of getting testing was mentally harder than actually physically going down there and doing it. I was lucky enough that I didn’t have to draw blood and I did a buccal swab. They were able to get the results back in two weeks, but they give the results once a month and that’s it. So you have to wait, and I put it off because my results were back on the day of my birthday and I said, you know what, I’m not going to do that, I’m going to wait one more month and I’ll get my results then. And when I – You have to realize, I’m very active in this community so when I sat down, I sat amongst peers and friends and people that I had been working with for many years. So, yes, I was negative, and that was a huge relief but on the other hand, my sister got her results that same week and she was positive. And I had not prepared myself for that result and ultimately was very difficult, the whole process, because it will devastate my family for many years.
CAVANAUGH: Let me ask you, Kari, have you been thinking about perhaps getting this genetic test to see if you, indeed, are – have inherited Huntington's disease?
HARTMANN: Well, obviously it’s something – I can’t speak for Misty or anyone else affected with it but for myself at least, it’s something that I’ve been thinking about. You know, it’s always in the back of your mind for years. And like Misty was saying, just growing up and being a younger person with it in my family, growing up and watching it take my father and Misty described it perfectly. You know, it kills your loved one twice. The first time is when you completely lose – like for me, my father, I completely lost him emotionally, physically, everything, you know. I was suddenly his caregiver rather – like the roles were reversed, I guess you could say. And then, you know, his ultimately passing away was losing him the second time. But for me it’s something I definitely think about every day and as I feel like I’m getting older, I feel more confident in wanting to know and more confident in myself and one – before I had turned 18 because you can only get the test once you turn 18 unless you exhibit symptoms beforehand, prior to my 18th birthday, I was all gung-ho for getting tested as soon as I turned 18. And my birthday kind of came and passed and it suddenly didn’t really seem like such the right decision at that time. And looking back, I’m so thankful I didn’t go through with it. In fact, I don’t think even the genetic counselors would’ve let me. My father had just died, I was starting college, graduating high school, there was so much going on. Looking back, I’m so thankful I chose not to do it then. But I definitely – as I get older, I definitely consider it more, and it is something that I’m considering but one day I’ll wake up and I’ll feel completely ready and the next day I wake up and I’m like, nah, I don’t want this. And as Misty was saying, there’s really no reason to know other than to ease your mind. But…
CAVANAUGH: Let me interrupt, if I may, because we’re in our last minute or so of this conversation. And it seems to me, Misty, it must be – it must just drive you crazy that they have to find a cure for this disease. What are the goals of your society?
OTO: You know, our goals used to be cure, cure, cure, now it’s treatment. Let’s just find something that’s going to delay this, something that it’s not going to hit people between 30 and 50. Let’s make it 60 to 80, something to where we can function as people and not suffer because truly, right now, the HD is suffering. We have very little hope. And that’s all we can hold onto, is hope. So any breakthrough truly is a milestone for us. UCLA just announced that they were able to physically cure Huntington's disease in a mouse. And we’ve gone from a fruit fly to a mouse in a matter of 10 years. That’s not fast enough.
CAVANAUGH: Right. To raise awareness, that’s the whole part of what you’re doing this month. I want to thank you all so much for coming and sharing your stories with us. Dr. Jody Corey-Bloom, Misty Oto, Kari Hartmann, thank you.
OTO: Thank you.
HARTMANN: Thank you for having us.
DR. COREY-BLOOM: Thanks.
CAVANAUGH: If you’d like to comment, please go online, KPBS.org/thesedays. Stay with us for hour two coming up in just a few minutes here on KPBS.