I'm sorry you're living with my nightmare
September 22, 2010 1:56 PM   Subscribe

Life with (and without) Huntington's.

A very close friend recently had a parent diagnosed with Huntington's disease, and is now running a wide gamut of emotions concerning not only the parent's prognosis but their own health and reproductive future as well. I find myself talking with this friend quite a bit about the situation not only because she has things she needs to get off her chest but because I have Huntington's disease in my family line as well. (My grandmother died from it in her early seventies, and an uncle drowned several years after his diagnosis as symptoms were beginning to severely worsen.)

My own parent is old enough now, without showing symptoms, that I think she, me, and my siblings are probably in the clear. (My mom turns 59 this month. Her mother was diagnosed around 60 after having shown symptoms for several years, and her older brother was diagnosed in his late 40s or early 50s.) But having this genetic nightmare I've been worrying over since I was a young teenager now actually happen -- to my friend -- has made me preoccupied with the disease and the possibility that my mother may suddenly get sick after all. I've been having obsessive thoughts about my mother developing symptoms, as well as imagining my own diagnosis fifteen or twenty years in the future (which usually involves thoughts of arranging my own suicide twenty-five or thirty years in the future) as well as fretting like I did when I was younger over any involuntary shudder or possible tic. I'm definitely surveiling my mother for symptoms like clumsiness, shaking, balance issues, irrationality, and slurred speech, and though I haven't seen anything I find myself irrationally preoccupied with the idea that her habit of holding her hands together (which I've just noticed, and which may be new) is to actually keep them from shaking. I'm worrying again -- a few months into trying to have a baby -- about having kids myself. And I'm worrying about the children of my uncle in their thirties, some of whom will likely start to get sick from Huntington's in just the next few years.

On the one hand, I'm a source of useful information for my friend about Huntington's, as her grandmother died before showing any symptoms at all and the parent/aunt/uncle generation is only just getting diagnosed. (They really don't have much family memory about what HD is like or how it progresses.) I'm also a good sounding board for her fears and anxieties because I have such a similar experience, and because I know a little bit about practical matters like insurance, pre-existing condition exclusions, disability insurance, and the need for long-term care. But by the same token I feel like I'm a *terrible* source of information, because having grown up in a family in which memory of the disease goes back several generations everything I have to say about Huntington's feels completely hopeless, bleak, and terrible. I worry that I'll inject my own lifelong anxieties into this situation and make things worse for my friend. (I'm trying very hard not to do this, and she hasn't said I'm doing anything wrong. I find I mostly unload these anxieties on my wife instead, who is very understanding and generally wonderful about all this.) The only "good" things to say -- maybe you don't have it, maybe they'll develop effective treatments soon -- seem completely hollow.

I'm looking for help in what I should and shouldn't say to my friend -- resources to point her to, ways of coping with what is happening to her and her parent and the children she doesn't have yet but wants. I know she's thinking of getting tested, but whether she does or not she has a lot of possible futures to contend with, and I want to do what I can to help to help her through this.

But I'm also looking for ways that I can process what is happening to my friend without experiencing it as if it were happening to me. It's probably part "survivor's guilt" and part "maybe I'm not actually out of the woods yet," but either way my renewed preoccupation with HD is definitely becoming a distraction for me. How can I go back to thinking I dodged the bullet? Given my mother's age and lack of symptoms I feel like spending $1,000 I don't have to test myself for a disease I almost certainly don't have would be completely irrational -- and of course there's always the chance that I'd be spending $1,000 to find out I (and my mother) do have it after all.

Thanks for reading this and for any suggestions you may have for coping with a family history of degenerative disease, especially Huntington's.
posted by anonymous to Health & Fitness (15 answers total) 6 users marked this as a favorite
I would recommend you (and this "you" is directed both to you and to your friend) go talk to a genetic counselor. They can help you make the decision on whether or not to get tested, and they are very good at taking into account medical, logical, and emotional reasons you might or might not want to. They won't make the decision for you, but they will help you come to the best decision for your circumstance.

A recent NYTimes series called The DNA Age addressed Huntington's specifically, and you may find some things of interest in it.

I'm sorry you're going through this. Huntington's is an awful disease, and such a stressful thing to have in your family. And the fact that it is one of the things we can test for genetically the best coupled with the fact that we then can't do anything with that information is very difficult.
posted by brainmouse at 2:26 PM on September 22, 2010 [2 favorites]

Shana Martin went to the next high school over from me, so I'm pretty . Her site is for her modeling/personal training/etc., but from everything I've heard she's VERY devoted to her family and the Huntington's cause, as well as being a pretty cool person. Shana's family wasn't aware of her mother's history before the diagnosis due to her mother's adoption. You might try getting in touch with her.

Also, her site links to the National Youth Alliance for the HDSA, which is geared toward anyone from 9-29 whose life is affected in some way by the disease.

I don't have to tell you about how tough the disease can get, but it doesn't mean that your life and your relationship with your family has to end. Not everyone has to jump up and turn into an activist-model-athlete like Shana, but then again Shana's gotten strength from including way more people in her mom's story than just herself and her dad.

Best wishes for both you and your friend.
posted by Madamina at 2:51 PM on September 22, 2010

er... that should read "...so I'm pretty familiar with her and her family's story." Oops.
posted by Madamina at 2:52 PM on September 22, 2010 [1 favorite]

You can go back to thinking you dodged the bullet after you've actually gotten tested. And, I say this as an admitted hardnose about these issues, but if you are thinking about reproducing and there is a non-zero risk that you will transmit a life destroying illness to your progeny, it is highly irresponsible and selfish to avoid actually determining if you have the allele. For that alone, I would suggest you get tested. If it's negative, then you just spent 1000 to never have to worry about you or or children having HD. And then you can lend your emotional support as best you can to your friend. Even with a parent that has HD, it's autosomal dominant, such that you will always have a 50% chance of NOT inheriting the allele. So let's say your mom became symptomatic, you'd still have a 50% chance of "wasting your money".
It is one thing to not know for yourself and for your own peace of mind (although knowing one way or another might be anxiety reducing) and I can see why you've gone the anecdotal route (well mom's fine) over the genetic testing. But ethically, I believe you do not want to roll this die for the next generation. Or even role the die that your kid will have a similar anxiety of not knowing whether they are carrying the allele. If I were your kid, and I inherited HD from you when testing was available, I would never forgive you.

Sorry, I have a friend who has a much more aggresive allele of huntingtin, and watching her has given me a new perspective on what "a life well lived" is.
posted by thusspakeparanoia at 3:07 PM on September 22, 2010 [4 favorites]

Given my mother's age and lack of symptoms I feel like spending $1,000 I don't have to test myself for a disease I almost certainly don't have would be completely irrational

It doesn't sound irrational to me - even if the odds are long that you might have it, it is clearly still something that worries you and affects your quality of life, so if you have the money available, it sounds as if it could be money very well spent in buying you invaluable peace of mind. As thusspakeparanoia says, it would also have a benefit for your future children. Although of course that doesn't address the question of what would happen if you tested positive, and I guess a genetic counsellor is the person to work through that with you, whether you decide to go ahead with testing or not.

But I just came by to say that I don't think you should feel bad or irrational for still being concerned and contemplating testing, despite your mom's age and lack of symptoms. Good luck.
posted by penguin pie at 3:29 PM on September 22, 2010

My dad was dx'd and died of Huntington's last year. Thank you for posting this question.
posted by MeiraV at 3:53 PM on September 22, 2010

thusspakeparanoia -- my father found out when I was 3 that his mother had Huntington's -- when her brain was autopsied. He looked at me and felt such horror and guilt that he CHANGED FOREVER. He felt EXACTLY as you suggest he should feel . . . and as a result, I didn't get a relationship with him. He was there, non-symptomatic, for years, but too filled with guilt to connect with me.

He seemed fine, I thought I was home-free, but suddenly he wasn't. And then he was sick, and apologizing to me on his deathbed for bothering me. Think about that. He may have passed this on to me and his guilt -- not the disease, but the guilt you think he should feel -- ruined our chance at a relationship. I never once was angry at him for having me. I was heartbroken that he was so sad, and I wanted my daddy back, sick or not. I wanted him while he was alive to be with me. And the guilt is what took him.

I'm very, very sorry your friend is sick. I know exactly what it's like to watch someone with this disease. But until you've walked a mile in the shoes of someone at risk, I really wish you would keep your hardnosed judgements to yourself. They are hurtful. People living at risk need compassion, not judgement.
posted by MeiraV at 4:11 PM on September 22, 2010 [2 favorites]

You go, MeiraV!

Thusspakeparanoia failed to mention that we all give something uniformly fatal to our off-spring: life. Not that I mean to belittle the pain of those with or at risk for life-threatening illness. (Then again, that later category includes everyone.) My point being that having a child is not safe. No one perfectly predict what genetic risks are involved. To say nothing of non-genetic illness and injury.

We can't control life. And that's upsetting. Especially when we become ill or injured. But life remains worth living.
posted by ticketmaster10 at 6:23 PM on September 22, 2010 [1 favorite]

The link for the HDSA is http://www.hdsa.org/living-with-huntingtons.html for their resources page, with links to their online forum and links to the HD Centers of Excellence (centers which have special expertise in counseling and testing for HD). If you are not in the USA, try the International Huntington Association site: http://www.huntington-assoc.com/ and they have lots of contact information for other countries. Prior to testing yourself, I would recommend speaking clearly with your mom about this intent, since if you were to found to have the HD expansion, then your mother is de facto diagnosed-and she may not have wished that information. Joint counseling with your mom can be useful. If you are considering children, preconceptual counseling may help you evaluate other options such as PGD if your primary concern is to have the risk for HD end with you for your branch of the family tree. Definitely consider a Center of Excellence/your country's version; if that's not possible, please at least contact them for a recommendation for a local genetic counselor/medical specialist familiar with HD. Counseling for HD is best done by those very familiar with the wide range of psychosocial and medical issues involved and not all GC's or neurologists have that expertise.

I hope you find peace with this.
posted by beaning at 6:23 PM on September 22, 2010 [1 favorite]

I'm looking for help in what I should and shouldn't say to my friend -- resources to point her to, ways of coping with what is happening to her and her parent and the children she doesn't have yet but wants.

For a good book about living with Huntington's and/or with someone with Huntington's check out Joe Klein's biography of Woody Guthrie.

Given my mother's age and lack of symptoms I feel like spending $1,000 I don't have to test myself for a disease I almost certainly don't have would be completely irrational -- and of course there's always the chance that I'd be spending $1,000 to find out I (and my mother) do have it after all.

Have you talked to your mother about this? Maybe she would get tested. I don't think spending that money wouldn't be irrational at all. Either way, you would stop worrying about "What If."

My Grandmother had Huntington's. I told my soon-to-be-wife about this disease and what it does and what it could mean for us. My wife married me anyway. I decided I would go get tested before we started trying to have kids. I live in Canada, so the test-- and the appointment with the genetic counsellor-- was free. My mom decided she wanted to come with me and after talking with the genetic counsellor, my mom decided to get tested first. The day she received the all-clear we were all in shock. My mother and I had been living in fear for a long, long time, each of us convinced we had the gene and would develop the disease. It took awhile to believe. We were so sure! But thankfully-- thankfully!-- we were wrong. Every year my family celebrates the day when we were told we don't have Huntington's. It was the best possible outcome, and I wish the same outcome for you, your mom, your friend and everyone else in this thread.
posted by Fuzzy Monster at 2:18 PM on September 23, 2010

Mod note: From the OP:
I wish this story had a better outcome, but after much reflection my brother and I decided to ask our mother to get tested. It turns out she does have the Huntington's gene, with 42 repetitions. In retrospect this explains the pattern of subtle degeneration we've all noticed in my mother in recent years, as well as explaining other issues like clumsiness and minor car accidents that she only admitted to us after her diagnosis came back.

I'm very sad about the diagnosis but feel at the same time stoic and surprisingly clear-headed. I suspect part of this has to do with the fact that since finding out she could still get HD at her age the disease made more and more sense as an explanation for everything we've been seeing. My obsessive fixation wasn't so irrational after all -- it was more like realization, more like an epiphany. As soon as I found out it was still possible I more or less knew it was true.

My wife and I are trying now to weight the pros and cons of me getting testing myself (and risking various forms of genetic discrimination during my working life) or skipping that step and going directly to in vitro-fertilization with pre-implantation genetic diagnosis.

And I suppose my friend and I can now comfort each other in a rather more direct way.

It's hard to have gotten this news, but none of us -- not me, not my brother, not my mother, not my stepfather -- regret the decision to test. And I'm glad that we got the results before my wife became pregnant so that one way or another we can stop the spread of the disease into the next generation. I wish I lived in a country where people could get tested for diseases like HD without fear of discrimination in employment and insurance, but that's a post for another time -- and in the meantime I thank everyone for the comments and support in their thread. It made a difference.
posted by jessamyn (staff) at 7:49 PM on November 15, 2010

Although technically there are laws against genetic discrimination, I understand and care for your concern against getting tested for yourself. I applaud your clear headed stoicism at this point, and will only suggest that all your decisions will be affecting other lives, present or future, and hope that you always make them with those others in mind. IVF screening sounds perfect for you and your wife and future progeny.

OP, you have my deep care and concern, for you and your mother and family. I wish you as well as is possible.
posted by thusspakeparanoia at 9:25 PM on November 16, 2010

Mod note: From the OP:
My wife and I decided that it would be best if I got tested before we had children, if only to end my ongoing anxiety about living stuck between two futures. Although all the doctors and genetic counselors involved in the process were warm and caring professionals, the testing process was obviously very stressful, one of the hardest things I've ever felt I had to do. In the end the results came back good: I don't have the Huntington's gene and won't get the disease. I've been petrified of having HD for 20 years, since I first heard about it when my grandmother got sick when I was 13 years old; it's a very strange thing to be free of it after so long. Thanks again for all the answers and support in this thread.
posted by jessamyn (staff) at 10:14 AM on March 5, 2011

What good news, I'm so pleased for you. I hope once the news sinks in you start to enjoy the new future opening up in front of you, and that your mother stays well for as long as possible.
posted by penguin pie at 2:15 PM on March 6, 2011

OP if you're still checking in, I want to congratulate you on getting tested. I know how anxiety can make actually knowing seem worse than the horrid speculation of what if? I admire your resolve in getting testing. Fortunately, the results are heartwarming. And isn't it great to be assured, one way or another?
As penguin pie says, I hope that this will make your mother's struggle, (and your friend's) an easier, more compassionate work for you.
There is no easy thing to say here, but I want to applaud you for doing the best for yourself and your family in difficult circumstances.
posted by thusspakeparanoia at 8:33 PM on March 23, 2011

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