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Huntington’s Disease

Audio

Aired 5/18/10

Huntington's disease is a genetic disorder of the brain that affects 1 in 10,000 people. We speak to local experts about the devastating disease and the impact it has on people and families.

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.

OTO: Umm-hmm.

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…

OTO: Yes.

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.

Comments

Avatar for user 'AuntJenny'

AuntJenny | May 18, 2010 at 11:19 a.m. ― 4 years, 4 months ago

Something NO ONE on this panel mentioned is that, since the advent of the test for Huntington's, it is possible to COMPLETELY ERADICATE this horrible disease in just two generations: Those who are children of Huntington's sufferers get tested and, if positive, DO NOT HAVE BIOLOGICAL CHILDREN OF THEIR OWN.

I know that many who are at risk of Huntington's choose NOT to get tested, and that's their perfectly understandable decision; but it is absolutely unconscionable for them to not get tested and then go ahead and procreate, not knowing if they're passing on a legacy of avoidable suffering.

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Avatar for user 'starboy'

starboy | May 18, 2010 at 11:19 p.m. ― 4 years, 4 months ago

AuntJenny, You assume too much. My father emigrated to the US in the 1920s. He left his native country when he was about 21 and probably did not know about the disease or it implications. I never met any of his family. Most had died before I was born. He was not diagnosed with HD until he was in his 60s. By then, my other siblings and I already had children. For us, the diagnosis came too late to have made any such decision about whether to get tested or to have children.
Furthermore, the test is not cheap. It cost me about $1000. Not everyone can afford that. Families with children who do know that their parent has HD are often under severe economic stress. The treatment for HD is very expensive and perhaps neither parent can work outside the home (victim and caregiver).
So please stop shouting. We don't need it.

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Avatar for user 'HopeDignity'

HopeDignity | May 19, 2010 at 3:23 p.m. ― 4 years, 4 months ago

I'm 33, HD positive. I never desired to know anything about my genetic status. If I'm affected, than there is nothing I can do about it, except hit my head against the wall. Being a caregiver to my Mom is the most important thing at this stage of my life; I didn't know how this knowledge would affect our relation.

But I felt that I wanted to have a baby and it seemed like the last moment to decide whether it's possible; that was the main reason I finally decided to go for the test. The first thing I felt when I received my result was kind of a relief that at least I don't have to worry about another human being in my life. Many people like me try to commit suicide when they find out that they are positive, so maybe this way the disease to be wiped out from the face of the earth. That’s why I am against testing without prior consideration.

So, AuntJenny, following my life choices you would probably think that I agree with you. If you got this impression, you got it totally wrong. Everyone is responsible for his own life decisions. We cannot eradicate HD by vasectomy. The times of Hitler's chancellorship are fortunately long gone. I think that insensitivity is worse than any genetic disease. But at least it's not uncurable if you try.

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Avatar for user 'AuntJenny'

AuntJenny | May 19, 2010 at 8:54 p.m. ― 4 years, 4 months ago

I'm sorry that I was misunderstood. Please let me clarify and address the completely valid points both StarBoy and HopeDignity raise.

StarBoy, I don't blame anyone for ANY decision made based on lack of information (either back in the day or in present day), and I know that the test is expensive. However, $1,000 is pretty cheap if one is contemplating having a child, don't you agree? Raising a kid costs a whole lot more, and that initial investment in knowing whether you are perpetuating a horrible legacy makes it seem pretty cheap in comparison. I stand by my point.

HopeDignity, your "life decisions" are entirely your own and none of my damn business; it's when procreation of the disease enters the picture that I get "exercised." I don't think anyone should be tested unless s/he wants to be WITH THE HUGE EXCEPTION (yeah, I'm shouting, StarBoy) of possibly passing along the disease.

Did either of you actually read my original post?

To both of you (and anyone else): I come from a medical family; half my relatives are doctors/nurses/lab techs, and I have been a health-care worker (yes, taking care of HD sufferers as well as others in long-term care facilities), so I know from the agony experienced by patients and their loved/loving ones. I've changed their diapers; I've fed them pureed meals; I've hugged their children when they could no longer recognize those children. I've watched them die in pain LONG before their time.

I am NOT a eugenicist by any means. I simply and rationally conclude that it is incumbent upon all of us to use whatever power that lies in our hands to improve the world, and this one is a no-brainer: People who KNOW they are at risk for HD should not have biological children until they are tested. PERIOD.

I don't see how forwarding this completely rational and compassionate stand makes me the equivalent of Hitler.

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Avatar for user 'HopeDignity'

HopeDignity | May 20, 2010 at 4:33 a.m. ― 4 years, 4 months ago

AuntJenny, I'm really happy to hear that your reasoning is driven by compassion and not by hatred or lack of understanding. But this completely rational stand of yours is the result of seeing only the final stages of the disease and most probably that is why your perspective must contradict my personal experience.
We all agree the deterioration of human body in HD is the most difficult problem and that most of the people are not capable of taking care of a patient at this stage of the disease.
But if you decide to stand by their side, and it really takes courage, compassion and love to overcome our own vulnerability, then the whole perspective changes.
I used to take care of my grandma and now I am caregiver to my mom and I will always remember them the way they used to be and the way they have influenced my life.
And life with the disease is not by any means worse than life without it. It's different. It may be even more profound and more conscious.
...Though sometimes I feel like Alice in Wonderland when someone tries to push me to follow directives made up by people who have never lived their lives the way we do. I am capable of making my own choices in life. So even if I believe in your good intentions, I will always demand from you to respect my own free will when it comes to my life choices. And I will even respect your point of view as long as it is not categorical.

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Avatar for user 'AuntJenny'

AuntJenny | May 20, 2010 at 1:33 p.m. ― 4 years, 4 months ago

Thank you, HopeDignity.

Yes, there absolutely should be more effort put into research for treatments for HD, no question. People who have HD shouldn't be ostracized or discriminated against or viewed as "less than" anyone else walking the planet. Medical bigotry is abominable, and I loathe it deeply.

I can't possibly know what your experience is, but I can almost understand, around the edges, having seen it (I've known the symptom-free children of late-stage HD patients, too). I know that you know things I can't begin to comprehend, and there are insights and revelations you have gained that the "un-afflicted" cannot ever grasp. I truly DO get that.

But I refuse to glamorize a deadly illness. What one gains in adversity may be a gift, but I defy ANYONE to call HD itself a "gift," one that should be lovingly passed down to future generations because of all the spiritual "insights" it affords its sufferers.

My ONLY point is that this is a horrible disease (I don't think this is a particularly controversial view), and it CAN be eradicated. To have the power to make it "go away," and to NOT exercise that power, is the very definition of irresponsibility. This is a conversation very different from how we, as a society, treat the ill-- medically, socially, ethically, etc.

I ask you: Would you not like to eradicate Huntington's?

I'm not a bigot or a eugenicist or a hater; I'm a pragmatist. Am I proposing a war on the "differently-abled"? No. I'm only about taking simple steps to make a hideous disease DISAPPEAR. How does that make me insensitive or a bigoted eugenicist? Did creating the Polio vaccine make Jonas Salk a bigot against Polio sufferers?

The people who are here ARE HERE, and they/we deserve every right and consideration and kindness and support society can offer, no matter what our conditions, medical or otherwise.

Again, my ONLY point: There is a very, VERY simple way to wipe out Huntington's in two short generations, and to not do everything in our (collective) power to do so is irresponsible and selfish beyond comprehension.

Neither you nor starboy has addressed my actual thesis; I understand the defensiveness and assumptions, but to not acknowledge that what I'm really talking about is wiping out this disease?

Guys, I'm totally on your side.

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Avatar for user 'starboy'

starboy | May 21, 2010 at 12:58 a.m. ― 4 years, 4 months ago

I'm pretty sure that I read your original post. And I think I understand it. Namely that people with a serious genetic defect such as HD should not have children thereby perpetuating the defect. I agree.

My first point is that the way you expressed this point in your original post seemed rather hostile, --though not as hostile as Hitler :). Perhaps I should see it as attempting urgency in a medium that doesn't lend itself to the nuances of the spoken word. I might even agree with that sense of urgency. But I also stand by my point: we don't need to be yelled at, or called names as in your last post. I think there's a better way. More on this below.

My second point is that HD can impoverish a family and though the cost of testing is indeed far less than the cost of raising children, it is still a hurdle for those at risk. And it adds to all the other barriers to getting tested, such as the loss of insurability, no hope of a cure if positive, feelings of guilt if negative (survivors guilt: how come my sister has it and I don't?) and many others.
A collective solution to this part of the problem would be for HDSA to use their funds to pay for genetic testing and provide practical help to families caring for HD loved ones instead of attempting to fund research for a cure. Currently there is a major foundation funding research for a cure whose budget is many times the HDSA budget. So, I think HDSA should focus on helping families directly affected instead.

...

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Avatar for user 'starboy'

starboy | May 21, 2010 at 12:59 a.m. ― 4 years, 4 months ago

...
The idea of eradicating HD in "two short" generations" is admirable. I agree that people who know they are at risk for HD should get tested and refrain from propagating the defect. However, one of the key elements of this happy scenario, "knowing" is problematic. The experience in my family illustrates this:
1) The age of the onset of symptoms and the rate of progression of HD varies widely, even within the same family. My father died of congestive heart failure at age 78. He did not reach the end stages of HD. My brother died of starvation at age 63, having lost the ability to swallow and suffering from violent, non-stop muscle spasms. My sister is more like my dad, and is still living at age 72. I know children in other families with advanced HD. So, what people "know" about HD can vary wildly with their experiences. If their only experience is with a relative like my dad, they may have no idea that HD can result in the horrible end experienced by my brother or the patients for whom you provided care.
2) In spite of the fact that HD is about as widespread as cystic fibrosis, it seems to be relatively unknown to people. Including doctors. I'd be willing to bet that HD, especially in it's early or mild stages is often misdiagnosed. A fair amount of time may pass before the family "knows" that the problem is HD. If it also happens to be late onset, like my dad, the children may well be married with children already as I was, and my brother was. One generation missed.
3) Families these days are often fragmented. My brother was married and divorced twice, all before my dad was diagnosed. The children from these marriages did not have much contact with their dad. They lived in distant states. They had even less contact with my dad. They didn't "know". Once I knew my brother had HD, I did my best to inform his children, but for at least one of them it was too late. He had children before he knew about HD. Second generation missed.

So, in my opinion, in the near term we should do what we can to improve the diagnosis of the disease, educate people about the genetic consequences, provide testing and provide affordable health care (including help for the caregivers) to those who test positive. These are things we can do now. Hopefully, one result would be that those carrying the genetic defect would know it and choose to adopt children rather than produce their own.

By the way, a generation is not necessarily short. My dad was in his 60s before being diagnosed. Two generations like that amounts to at least 80 years. So let's also promote research and hope we'll have a cure sooner than that.

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AuntJenny | May 21, 2010 at 4:06 a.m. ― 4 years, 4 months ago

starboy, I don't disagree with ANY of your points (except for the accusation of my "hostile" tone-- really? I thought I was rather restrained), and I would go so far as to say that they line up pretty well with my admonishment of testing-before-procreating.

Again, I really think we're on the same side.

I don't think any treatment plan/philosophy is misguided, by any means; I'm sure you'd be surprised (but I hope pleased) that I'm a financial contributor to HDSA..

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HopeDignity | May 21, 2010 at 5:56 a.m. ― 4 years, 4 months ago

CONGRATULATIONS, AUNT JENNY!

You've managed to solve the riddle that remained insoluble for so many researchers for more than three decades. Your mission is to make this world better and to bring light to people like us; YOU SHOULD BE AWARDED NOBEL PRIZE IN GENETICS. Hopefully soon you will also provide us with preventive measures against poverty, hunger and wars in the world so we can award you with Nobel Prizes in economics and peace.

The only thing that escaped your attentive mind was that WE ARE HUMAN BEINGS.

Jonas Salk is probably turning in his grave at the way you compare the discovery of vaccine against Polio with your proposal of eradicating the disease. If we want to eradicate the disease at any cost, why don’t we consequently follow your directions and drop a bomb on everything and eradicate not only HD but also Alzheimer’s disease, AIDS, Polio and many more diseases and we don’t even need to wait for two generations.

Would I like to eradicate the problem of HD? The answer is YES. But not at any cost.

Hopefully a cure will be there soon, so we will avoid this type of arguments. The only thing that is clear for me after all these discussions is why people at risk find it so difficult to undergo testing. The news of being positive is always so tragic and it takes so much courage to come out of the closet. If they decide to raise awareness about the disease - this is what they get in return.

TOO LATE FOR ME, BUT MAYBE IT IS BETTER NOT TO GET TESTED AT ALL?

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KeiMari | May 21, 2010 at 1:53 p.m. ― 4 years, 4 months ago

Stories like this have a real way to getting to you.

I suppose the only way I can weigh in on this debate is in saying that it seems cruel and unusual to subject your child to the possibility of this or any other such disease when you know or suspect that you have it. Who would want to subject their child to that? I'm with starboy: education is the way to go so people can make informed decisions.

I say that while thinking people are people and people are far more emotional than rational, everyone has a right to chose what goes on with their own bodies AND people procreate. There is no real "off" switch for that drive... Though there are already a lot of kids out there on adoption lists that could use someone with a maternal or paternal instict.

Hopefully scientists will figure out something sooner rather than later. Genetic studies give hope, I suppose!

((On a minor sidenote, Hope: there's two vaccines for polio. There's no vaccine for bad genetics. It's kinda weird to include it in that list, though I get your point.))

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KeiMari | May 21, 2010 at 1:54 p.m. ― 4 years, 4 months ago

((That side note is for Aunt more than Hope, sorry.))

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AuntJenny | May 21, 2010 at 2:49 p.m. ― 4 years, 4 months ago

HopeDignity, I understand (but, again, can't possibly KNOW) your pain/anxiety/anger/any number of feelings involved in living with HD.

Hostility toward me isn't going to help a thing. I originally posted because there was an obvious gap in the discussion of HD; it's the equivalent of talking about AIDS and not mentioning condoms.

Of course I'm not Jonas Salk. I'm nobody. I just raised my hand and stated what SHOULD have been stated in the original conversation.

You read much, much, MUCH too much into my simple premise, and (if your last post is representative) hang on me a whole lot of baggage that has nothing to do with the subject at hand.

-- YES, research into treatments/cures is crucial and must be supported;

-- YES, compassion and care and non-discrimination are crucial;

-- YES, getting tested before procreating biologically is IMPERATIVE.

I know the human factor; I lost more than a dozen friends to AIDS in the '80s. There was a time when we didn't know what caused what, and what preventative measures we could take. This is no longer the case with either AIDS or HD.

I'm not a scientist, I'm not a researcher, I'm not a doctor. But I know enough to bring up THE MISSING POINT in the "These Days" discussion of HD. And I've done enough reading to know that prevention is much more effective than any "cure." We didn't "cure" polio; we PREVENTED it. We can't even "cure" the common cold, for pity's sake. Any scientist/researcher/doctor will tell you the best way to deal with a disease is to stop it before it starts.

All I promote is responsibility and ethical behavior. That doesn't exclude the human factor, or compassion, or advocacy for human beings dealing with the fact of HD (or AIDS, or Alzheimer's, etc.) in their lives. I wept with happiness when the antiretroviral drug therapies were finally available to AIDS patients; I have friends alive and thriving today who were teetering on the edge at the time. I understand the importance of "treatment," believe me.

I wish you a long, healthy, happy life.

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HopeDignity | May 22, 2010 at 4:22 p.m. ― 4 years, 3 months ago

I belong to quite rare species: there is no pain/anxiety/anger or any other negative feeling involved in living with HD in my case. I wouldn't get diagnosed if I was driven by fear. The disease has been in my family since I was a kid. It's a part of my legacy. I will survive even if there is no cure for my generation. I'm not glamorizing it; I just don't agree that living with it is any worse that living with any other disease or living your life healthy. We don't choose. Maybe if we could choose my feelings would be different. Life with HD can be filled with hope and dignity.

Of course most of the people in my situation are paralyzed by fear. It's better for them not to undergo testing at all and just their lives pretending that it doesn't affect them as long as they can.
If we talk about the ethics in HD, there are some guidelines for the professionals. The main and the most important is that the decision to take the pre-symptomatic test should always be an informed, carefully considered and freely chosen personal decision. Under no circumstances should an individual be coerced into testing.

Generally people who express their desire to undergo the test often have to convince the neurologist and psychologist that they are really ready for this decision. Knowing only this and for example the fact that there is no testing for asymptomatic people under 18, you could draw your own conclusions that the test itself is not for any affected person. And the decision should be reconsidered many times.

AuntJenny, I’m not hostile towards you, though I will insist on my first impression of you: a person that observes the final stages of the disease and doesn’t have any idea of what life with HD really is. I believe in your case "compassion" is too noble word, more suitable would be "pity" as it has its roots in fear. And hopefully the one that will be changing my diapers and feeding me pureed meals will not be a person with your attitude, because it would really make the disease unbearable.

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AuntJenny | May 23, 2010 at 2:50 a.m. ― 4 years, 3 months ago

Okay, I'm pretty much done here, but I'm gonna say one last thing: HopeDignity, I don't feel "pity" for you or anyone else, and I really, REALLY resent your twisting my genuine compassion into something derisive. Not only do I not pity you, but I'll admit that you're irking the living hell out of me right now. (How's THAT for not pitying you?)

But that's beside my ONE point, which was about reproductive responsibility, and which point has gotten lost in a big mess of illness/end-of-life/pity/compassion/I'm-Hitler-and-Mengele-combined mess.

I don't know you; you don't know me. While I give you wide berth, you make frankly RUDE assumptions about my "attitude" toward people with HD, certain that my take is based solely on end-of-life situations. NOT SO. There are two different trains of thought happening here: 1) living with HD; and 2) doing everything possible to eradicate it. I make no judgments about the former (how could one possibly?), but am INCREDIBLY judgmental about the latter.

BRING ON THE EUGENICIST ACCUSATIONS!

I worked in a nursing home and cared for many people in many stages of life/death/illness, and felt compassion for all and pity for NONE OF THEM. I believe the care I gave and dignity I afforded to my patients was EXEMPLARY, and my patients and supervisors agreed. I also knew the families of late-stage HD patients. These were people who themselves had/have HD-- some symptom-free, others experiencing some early onset.. You completely skipped over my mention of that some posts back. Yeah, I know from the yet-un-afflicted family.

Some years later, I went on to be a home-care nurse to a woman with fairly humiliating disabilities (bedridden, colostomy, etc., etc.), and managed to keep her "topside." Not easy; she was a bitch, actually (and I told her so once when she'd pushed me too far... and she laughed out loud and told me I was right)... but that's sometimes part of the job description, no?

Here's a template I think you and I can BOTH agree upon:
NO pity.
ALL compassion.
NO ignorant procreation.
MASSIVE research funding.

My "attitude" isn't about a reaction to late-stage HD, it's about PREVENTING A HORRIBLE DISEASE.

And that is/was my only point.

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HopeDignity | May 24, 2010 at 7:48 a.m. ― 4 years, 3 months ago

AuntJenny, HD positive result is like your life has already been taken away from you. On top of that you add another imperative of not having children. No ignorant procreation, you say. In most of the cases it is only this ignorance that allows people to build their own future and to live this little time they have.

For most of the young people there is only one drive to undergo a test: they want to receive a negative result, a pass to the "normal" life. They are not ready for the other option. That’s why there are so many suicides amongst young people that are positive. Imposing such a restriction on them makes us responsible for all the consequences.

I don't believe in any general rule that could apply to every person that is HD positive. Our choices have to be individual. Maybe more informed, but still not imposed by any general imperative. We are capable of making conscious and independent decisions. The predictive test doesn't sentence anyone to giving up on their lives.

What really speaks to me, is an example of dr. Nancy Wexler. She and her sister were very young when they found out that their mother had been diagnosed with HD. Aware of all consequences they decided not to have children. Nevertheless, dr. Wexler has never publicly declared if she had the blood test herself and she believes that only the individual can decide about it. This is what I consider respectful and inspiring attitude. There is both an example of personal involvement and also some space for a person to decide himself.

AuntJenny, we acknowledge that we are affected. We would do everything to eradicate the disease. But we should never agree to your proposal of the solution to our problem. It doesn't make us ignorant in any way.

HD is not the sole horrible disease. But most probably the people have some kind of genetic disorder or some predisposition toward certain diseases. We have to accept the fact that we are not perfect. And we need to find some other solution to the problem. Before somebody knocks on your door telling you that you or other members of your family should not have children because of some incurable disease.

AuntJenny, I don't doubt your professional skills. I do believe that you take a good care of your patients. But I needed to oppose to your thesis strongly. I am glad that you allow discussion. I am sure you understood at the first place how controversial your statement was.

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