Tuesday, January 29, 2008

Some freaky genetic news which stikes close to home...twice

Okay, I wrote a piece for the BBC today but it isn’t perfect so I am writing it again tomorrow and I started a piece on how to deal with limits for tomorrow. Well that would have been for tonight but there were several hours of interruptions including an attempt to understand genetics (you have to draw all this graphs). It turns out that my mother and I am a carrier of defective Chromosome 5 at a minimum.

Of my mother’s line, out of 14 people; five people died of a very narrow band of motor neuron disease; one had a motor Neuron disease but died of an accident, I have a MND, at least three people are hereditary carriers of at least one motor neuron disease and wait for it, my grandfather died of multiple system atrophy (all in the 14 people of my mother's father's family). I found this out yesterday.

Seems kind of odd for a 1 or 2 in 100,000 disease to show up in both my mother’s father AND her daughter? Anyway, I have been telling the doctors “Nope, no history of anything in my family” because that was what I knew until yesterday. Needless to say, to find out we have such a tight cluster of rare conditions, all which happen to be interconnected, sort of set me back. Since everyone has been sort of “Wow, this is so unbelievable for you to get this rare disease.” Well, until my grandfather’s brother heard I had Multiple System Atrophy last week; he lost half of his children to motor neuron disease called Spinal Muscular Atrophy. Then we started playing connect the dots and I find that hey, I have a far greater chance of getting these couple motor neuro degenerative diseases than breast cancer or any other type of cancer combined.

I mean I am not sure if I should be upset at the year of doctor doubts and confusion and fighting and the “oh crap it is autonomic failure” moment or whether I would rather have lived my life knowing that I had a pretty decent chance of a couple different MND’s. Too later either way, here we are, I am passing on the info to my doctor, tracing the specialist who diagnosed my grandfather (hey, grandfather and granddaughter get same rare disease….I smell a conference paper!) and I see maybe a geneticist and a muscle biopsy in my future. Gosh I hope those don’t hurt, because using a needle to take a chunk of muscle actually sounds pretty painless to me, NOT!

My head is in a pretty hefty spin, because, hey, why didn’t someone mention something before this weekend, but also, what do I do now? I think this is a case of hurry up and give the info and then wait….and wait…and wait.

One of the last things my grandfather said to me is that I reminded him of his sister. Now it may turn out that we all have or will die of the same disease. Actually, last few days I’d been having the terrors, the whole, “I don’t want to die this way” feelings that sweep over you. And this kind of calms me out.

My grandfather was a very special and important person to me; a person who accepted me as I was; yeah a little odd but that was me. He accepted the things I was passionate about I accepted things he was passionate about. I remember how he couldn’t figure out how anyone could be afraid of a few wood bugs as I would turn over the cut wood in the wood pile with a VERY outstretched arm. “But they don’t bite, they’re just wood bugs!” he would say in this sort of soft wonderment than such a poor harmless bug could cause such LOUD verbal distress from someone (like me).

“But they’re BUGS!!!” I would say before running away and coming back when he told me there were all gone. “Back into the woodpile I bet” I’d grumble with my bottom lip out.

“They are WOOD bugs.” Then as a treat I’d get to drive his mini hauling tractor to haul the wood up to the house.

I guess what I am saying is knowing that my Grandfather lived this, felt this, that when I last saw him, talked to him and he talked to me, that it was already a part of him, it makes me feel less alone. Something odd about that I think that I feel comforted knowing that he did not lose himself, that it was bearable (admittedly he probably wasn’t trying to do boxing and badminton and stuff like that). And I think he had morphine.

Still, it makes it more bearable for me.


wiccachicky said...

OMG - isn't it so annoying to find out medical histories that you should have been told sooner?? My mother did the same thing when the stomach stuff started -- once they got to a potential autoimmune disorder, she's like "oh, yeah, three of my sisters have that." Geez. It's a wonder doctors can figure anything out given that we know so little about our own genetic background!

Lene Andersen said...

Wow. That's... wow. You're right, I can smell conference paper all the way ovedr here in Toronto and hey, maybe that means some doctor will be all over you and maybe it'll get you some help. Yes, I know I'm naive, but ya never know.

Glad you're feeling less alone in this.

Penny L. Richards said...

Our family must be unusual--we do talk about this stuff. There are a number of specific medical conditions that a lot of us share on my father's side, so it's not unusual for holiday chat to include talk about synthroid doses and cholesterol ratios (we run very low cholesterol numbers, even the fastfood addicts).

I knew my great-grandfather had Parkinson's because there were still sturdy brass handholds affixed to a lot of the doorframes, a decade after his passing. Now his two living children also have forms of Parkinson's. Hard not to see one possible future looming there.

ms bond said...

Wow...that's absolutely amazing. My grandfather was my hero. As he grew older he talked a lot about death and how he felt about it. I think I was the only member of the family who didn't tell him to shut up but listened to his frustrations with life and growing older. About 2 years before he died he stopped being able to feel anything below his waist. Suddenly I was the expert he turned to. It was a very emotional time for him (very physically active) and it brought us even closer (even though he lived over 2,000 miles away). I often think of him when my legs go on strike. Yeah...this sucks but if it was good enough for Grandad then its good enough for me. I am glad your grandad is still helping you (hey...its what grandparents are for, right?).

Cooper said...

It's always a comfort to find out you're not alone in whatever struggles you have. Strange no one in your family brought this up before. Thanx, Guys. Maybe this will lead to a better life???

Gaina said...

Knowledge is power - however suckie the information might be.

At least you have something to go on now that might help your doctors decide how to deal with your symptoms as they arise. Also, I know you were half joking when you said 'I feel a paper coming on' but yes, you might actually be able to help the medical profession piece this together for the benefit of future generations.

I look forward to reading your BBC articles ;-)

cheryl g. said...

Wow, sounds like you have a lot to process right now. From what you’ve shared about your mother I wonder if the family medical history wasn’t brought up because… 1) if she didn’t have to mention the family history she could continue to hold onto the idea that this is something else and a magic pill will cure you… or… 2) if the genetics and family history were kept quiet it wouldn’t reflect badly on her…

I agree with the conference paper as well as potential study grant money… I do hope this new information will let you make forward progress with the doctors.

Dawn said...

Maybe I shouldn't comment at this stage in my personal grief, but what the hell. I have type 3 spinal muscular atrophy, and so did my younger sister and brother. I say "did" because my sister died seven years ago last week (21 Jan.), and my brother died two months ago (26 Nov.). My best friend since I was eight years old who also had SMA died last May. Growing up, we all had each other to commiserate with -- now I'm the only one left.

It sucks. I'll eventually come to terms with it (I hope), but the meantime is rough.

On a completely unrelated topic, I read Zed. Loved it. Well done!

Elizabeth McClung said...

wiccachicky: yeah, I'm dreading getting yelled at by doctors because I 'should' of told them, why is it that (at least in some families) it is like a shame to have died OF something instead of letting people know so they can be tested.

Lene: Yeah, it is the kind of incredibly tight cluster that only shows up in amish studies so I am sure someone will want to use it, just to suggest that MSA has a likely herititary component (unless you believe lightning strikes until eveyone at a picnic is hit). Well, less alone in my mind, as the people who had it are dead and I don't want anyone else to get it (though my brother could end up with SMA IV or V or parkinsons plus I believe).

Penny: yeah, I don't suppose saying that actually having the spasms and the brain fog once you are in it isn't actually as terrifying because you are so darn frustrated is much consolation - but yeah, kinda gives those annual check-ups a edge.

Ms. Bond: Well, my grandfather didn't talk about death, just duck, boats, planes and stealing equipment from the navy mostly. When my grandfather went into a coma they told me he was doing that humming thing that has no real song he used to do when we worked outside (that endless humming some men do). So I knew that he wasn't afraid, he was busy, mentally, somewhere. I am glad that, well, odd to say it, your MS brought you closer to your grandfather. My grandfather is very much helping me - thanks for reminding me.

Cooper: Maybe this would have crushed the whole, "Hey we are a perfect upper middle class English family" fantasy that my mom and her mom liked to play - that they got like, sick and thier family got sick you know.....like the poor people do.

Gaina: True enough, knowledge is power and now they can focus more and as one home care worker said, maybe there are two condition in the same band and it isn't MSA (hey, I like the straw clutching game!). Yeah I really think they should study and get gene samples of what family is left on that side.

Cheryl: Well, my mother actually never looked at me, she sat next to me and spoke to me but looked at Linda, and I am thinking that there is something about my disability or the whole disease thing and me no longer being able to "pretend" to feel good or strong anymore that she doesn't want to deal with. I also heavily agree with #2.

Dawn: This would be a good time for me to think of something other than, "It sucks" because I didn't know when I interacted with these people that it would be me, so I was in la la la land. So, to share that common pysical experience, with family and friends and now, being alone, I can only say that I am very sorry and I dunno, if you want we can "hang" and be friends, at some point, after the processing, I don't know how close the symptomology is, and I don't know if you want to get close to someone in that disease related way again. If I am coming off as crass and tasteless, please forgive me as I really want to listen and hear your story and I'm really glad you commented. As for Zed, there are humans and then there is terror (you probably get why I watch horror films for comedy value: "Oh, can't breath for like 30 seconds and that is supposed to be terrifying, 'round here we call that a GOOD day!") Oops, I think that went into the crass and insensative bit again, sorry!

Elizabeth McClung said...

Dawn Part II: I hate it; I hate that you and your brother and sister and friend went through that and you went through it and are still here going through it, alone. I hate it. I can't know what it feels like where you are but I wanted you to know that I AM glad you posted and I wanted you to know that I would change it and I can't and I hate that too. It is part I hated about Superman the movie (original), he turns back the whole world, but only to save one person.

Raccoon said...

"now you know, and knowing is half the battle"

I think that's what the G.I. Joe advertisements on television used to say.

I went through something kind of similar recently. I got diagnosed with diabetes just before Christmas. I told my mom, and she said that half of her brothers had diabetes. And that two of them have heart condition.

I already knew about the prevalence of cancer -- my father and his father died of metastasize breast cancer, two cousins on my mothers side and an aunt on my mothers side had breast cancer...

Got to love genetics...

alphabitch said...

I've struggled a lot to figure out why your mother would withhold this information, what would power her own denial of it. It's more of that "soviet history" thing we've talked about previously, I think. Maybe also has to do with her own fear of contracting such an illness? Denial of her own culpability in yours?

It's making me kind of nuts, thinking about it.

KateJ said...

Sometimes it's shame. I have experienced depression on and off all my life but only when I was working for a mental health charity 5 years ago and got involved in a campaign against the use of ECT did I discover that my own grandmother was forcibly hospitalised and given ECT. I knew she was in hospital but not where, or why. My mother was on tranx for years. And yet I had always told doctors: no, there's no history of mental illness in my family.