No.

David here. I don’t think Julie should do it. I don’t think I can take the bad news if that’s what it is. We can just adopt.

Questions, questions...

Julie here. I just couldn’t write about the symptoms… I don’t want to think about that happening to my grandfather, my dad, or (maybe worst of all) me! I’m not strong enough to consider that – David is the one who can distance himself from bad stuff like this. Now we’re down to square one, albeit with more information. Do I get the test? I think I have a good reason to be concerned about having the gene – my dad was one of two children so, just by odds, either he has it or my aunt has it. Also, I was one of two kids so either I have it or my sister has it, based on the ratios (assuming that my dad has it, of course), so there’s a 1 in 4 chance that I have it given that my grandfather had it.

Do I tell my dad if he has it, if I, you know, have it? Do I have the right to get the test if he absolutely doesn’t want to know his status? If I have the gene, then that’s a pretty good sign that he has it too, so how do I live my life knowing that soon his degeneracy is coming? I’m sure I’d spill somehow, and that just wouldn’t be good.

If I have the disease gene, what’s the chance that it’s bad? Can I start a family? The chances of me passing it on to a kid is about half, so is it worth it to start a family even if I have the disease? Maybe I can get away with having one child, but what if it’s fraternal twins and one has the disease? It’s also hard because I want to have kids at least twice… I want my kids to know what it’s like to have an older and a younger sibling (although maybe not at the same time… middle children get a bad rap.)

As for other options, I think that if I do have Huntington’s, I could commit suicide…

…No, I’m just kidding. I’m not a quitter.

But really, I could adopt – but again, it’s this… thing… inside me that WANTS a thing inside me, growing and developing because of ME (and David).

It’s going to be a tough decision, but at this point I’m sort of leaning towards getting the test.

David here, with the symptoms...

Hey, everyone, this is David. Julie’s going to phone this one in because once she started looking at the symptoms she couldn’t really take it anymore and had to stop. I remember a little bit about Huntington’s and biology/genetics so I might be able to explain it in a bit more detail, but I’ll try and break it down simply like Julie has been doing so far.

The most recognizable symptoms of Huntington’s are chorea, which is the general term for jerky, uncontrolled, and random movements, and then a lack of coordination. Basically, Huntington’s messes up a protein, which results in neuronal cell death (cell death in some areas of the brain), which causes these effects. However, Huntington’s also affects mental abilities and some aspects of behavior because of the abnormal protein. These re the most noticeable effects, but sometimes the psychological changes happen beforehand and are overlooked. However, the main thing with Huntington’s is that symptoms vary from person to person, depending on the severity of how the protein is altered. Whereas some people show chorea as above, some go the opposite route and display stiffness and slow movement instead of random and quick movement. This alternative is called dystonia.

People who are affected with Huntington’s generally display a lack of coordination and an unsteady gait, which gets progressively worse as the disease does. It eventually gets so bad that they lose control over their facial expressions, they can no longer perform daily tasks such as standing or sitting, and some even lose the ability to swallow, eat, and talk. It’s pretty terrible, but that’s in the later stages of the disease. Other symptoms that appear earlier, the cognitive symptoms, include degradation of cognitive ability, which leads to the loss of abstract thinking and inhibition of inappropriate action, the loss of psychomotor function, which leads to the physical symptoms described above, one’s perception of self and surroundings tends to be slightly distorted, the loss of short-term memory function, and the ability to learn new skills is effectively destroyed.

Wow. What a trip. I can’t even begin to think of that sort of thing happening to Julie. There are a few more symptoms, the psychopathological, but they vary widely from person to person. I can’t even think of those sorts of things happening to Julie – I mean, loss of emotion? Aggressive behavior? Anxiety or depression? Egocentricism? That just seems so contrary to what I’ve seen out of Julie that I don’t think that it could happen. But then again, I guess anything could happen with such a crazy genetic disease.

I guess that, now that we know pretty much all that we can about Huntington’s, now it’s time to make a decision. The potential implications are pretty big though so we’re going to have to chew over a lot of stuff. Don’t expect the next Huntington’s post to come any time soon…

Inheritance part II

Continuing from the last post, I couldn’t really take thinking about that too much… it’s just depressing to consider both your own mortality and the mortality of your entire family… whether or not you can have children at all.

Going back to autosomal dominance, I’ve found some illustrations of these things called pedigrees which show the heredity of a family. These couple of diagrams below should help explain Huntington’s a little better.

This is the basic key to reading every pedigree ever. This is pretty straightforward so I don’t think I need to talk about this one too much.

Here’s a pedigree that shows the pattern of inheritance of autosomal dominance, like in Huntington’s.

Basically, the thing that shows it’s not a gender-linked disease like colorblindness or hemophilia, is that affected people can pass it on to both sons and daughters. Also, it shows up in every single generation, even though the usual ratios that are associated with Mendelian genetics cannot always come true (autosomal dominance usually affects half of the offspring, and it’s very, very rare that these ratios are found in humans because of the immense complexity of humans.)

Now, with Huntington’s (which I really hope is NOT my life story), the problem is, it’s not expressed until later – I found a graph somewhere that shows the fact that it has a very late onset. You don’t know you have Huntington’s until late…

...way late.

The problem for us is that this is too late to know to not plan for a family – unless we get the test to determine whether I have it. At my age, only about ten or fifteen percent of people affected by Huntington’s show symptoms. There’s where the biggest problem lies – we just don’t know what lies in our genes. My father is getting to the “good” part of the spectrum – at 48, about 70 or 75 percent of people with Huntington’s would show signs of the disease. However, there’s still the chance. But I still have to find out more about Huntington’s before I can make a decision as to whether to go against my father’s wishes. I guess now I should find out about what Huntington’s does to people. This is not going to be pretty.

-By now, fairly depressed thinking about this,
Julie

On inheritance...

So, more depressing stuff about Huntington's. Yay.

The inheritance of Huntington’s was a hard subject for me to research. I might have to break this post up into a few different ones. I don’t know if I can make it through all the way without breaking down… the emotion involved in contemplating that this could possibly happen to me is just too much.

In any case, here it is. There are a bunch of different types of inheritance methods based upon Mendelian genetics. The basic ideas behind Mendelian genetics are simple: It’s an easy cross, the kind of square with the mom and dad on two sides, each donating one characteristic, the Punnett square , as seen below.

But the thing with Huntington’s is, if it’s in your family even once, then it will most likely be passed on. It’s passed on as what’s called an “autosomal dominant.” Let me break this down by word. Autosomal means that it’s not passed on as a sex chromosome (not passed on on either the X or Y chromosome, which are the chromosomes that determine your gender). Dominant means that, among the two alleles that make up who you are, if one of the alleles is a dominant allele, then it will be expressed no matter what the other allele is. Basically a dominant allele masks the expression of other alleles and makes sure it is the only allele expressed. That’s why it’s so dangerous to have Huntington’s – those repeats will be passed on to all your kids, and the kids of your kids, and so on and so on. I’m sorry, but I have to cut this post off. I just can’t keep thinking about this much longer today.

Causes of Huntington’s

The basic cause of Huntington’s, as people understand it now, is a problem with your DNA, the basic stuff of life. I really don’t have too much of an idea what happens with DNA, suffice to say that it’s what makes you who you are, what color your eyes are, how tall you are, your looks, pretty much everything physical about you. It’s an incredibly complex molecule and apparently there is a bunch about it that even top scientists don’t know, so don’t feel too bad if you’re in that boat (I know I am!)

What ends up happening is that your DNA is made of a bunch of things called bases, which are four different chemicals, represented by the letters A, T, C, and G. The different combinations that these four chemicals make in the DNA can make the INCREDIBLE variation among the people, animals, plants, and every living thing of the ENTIRE WORLD! It’s really, really, amazing how it works… and it makes you wonder how it all comes about. Those are subjects for other blogs though ;)

Anyway, in Huntington’s, the DNA has a problem with repeats – normally, DNA has a bunch of repeat sequences (like AGAGAGAG), and it’s supposed to, but there are some places where you’re not really supposed to have repeats, and those are the repeats that mess things up. Actually, normal people have these repeats too, the people with Huntington’s just have a lot more of them – it’s something like normal people have 19-21 repeats of the bases CAG (in that order) and people with Huntington’s have around 46. Also, the more repeats one has, the worse the effects of Huntington’s are. I still have to put together my stuff on the effects of Huntington’s, so I’ll have that later.

So the cause is more repeats. Why would more repeats be bad, though? That’s the question I asked. The answer, as it turns out, is protein. “Don’t I eat enough protein? That doesn’t make any sense!” Nope. That’s not the problem. Basically, there are a TON of different proteins floating around, doing different jobs in your body. In order for things to happen in the body (hair, skin, nails, everything to get made, as well as all sorts of important things happening with chemical balance and reactions), all different sorts of proteins have to be made. This happens involving the DNA. The bases on the DNA are read, and through a couple of processes called transcription and translation, are turned into chains of amino acids. Amino acids are basically the building blocks for proteins. They’re a lot more complicated than that, but if you want to find out more, check out the Wikipedia article. The chains (also called polypeptides, because an amino acid is called a peptide) are the same things as proteins, just with a different name. Have I confused you yet? I took one look at the overview (not even the actual text) for transcription and translation and my head started spinning, so I think I have you beat. Anyway, so amino acid = peptide, protein = polypeptide.

What happens in transcription is that the DNA is read and turned into a sort of half-DNA called RNA, which is usually single-stranded (ergo, half-DNA) but the real difference is some sugar in the backbone. Nothing too big for non-scientific types. This RNA (specifically, mRNA) is then read again to create the amino acid chain. Now, the thing that messes people with Huntington’s up is the fact that they have more of these repeats, so they have longer amino acid chains, which messes up the structure of the protein. Scientists don’t know what the protein (interestingly enough, called Huntingtin, that’s right, HuntingtIn) does yet, so they can’t really pinpoint the real cause, other than the fact that the DNA repeats mess up the amino acid sequence of the protein.

So basically that’s all it is. Repeats in my DNA can doom me to an early and ugly death, but the worst part is, I can pass it on. The problem is I didn’t really find out a lot about how it gets passed on, or its effects. I’m wayyy too tired to do anything more right now, so I think I’m going to go to sleep. However, you can rest assured that I’m going to find out as much about this as I can and, you know, put it out there for the world to see as I try and puzzle my way through it.

Sources

Hi! Like any good scientist, I'm going to go ahead and cite the sources that I plan to be using.

Introduction to Genetic Analysis, Ninth Edition, Griffiths, et al. - This is where most of the diagrams in the explanations I have will come from, as well as some of the background knowledge about genetics.

Wikipedia - even though it's not the greatest source, I trust it for general, broad-strokes sort of information. Also, I'll be linking to it throughout the explanations.

http://hopes.stanford.edu/ - This website, for the The Huntington's Disease Outreach Project for Education, at Stanford, really helped me to break down and understand some of the more complicated concepts surrounding Huntington's.

Get ready for a lot of knowledge.

Julie here… now it’s time to drop some knowledge. I've been researching Huntington's for a couple of months now, ever since I decided that I wanted to start a family and had the H-bomb dropped on me.

Is everybody ready for this? It’s probably going to be pretty boring, and it’s taken me quite a while to go through it and understand it all, so I’m going to break it down really simply and see what you guys think! I’m also going to include Wikipedia links to the things that have interesting histories and whatever, or that I can’t fully explain without going into a LOT of (sometimes boring) detail.

I’ll start with the causes and delve into a lot of depth. I’ve been consulting with the son of a friend of mine, he is in a genetics class at UNC right now and he’s been helping me understand some of these things. Well, let’s get to it!

Tough times

David here. We’ve been going through some serious talks in regards to our future plans. Laura’s grandfather died of Huntington’s when he was 48. Now her dad is the same age, but shows no signs of Huntington’s. He’s fit as a fiddle, still going strong. You should have seen the way he danced with Julie at our wedding, he was ballroom dancing like a pro.

Now the question that we're wrestling with is whether Julie should have a genetic test done to determine her status. Is she affected with Huntington's? Does she have to worry - was her father a carrier? She's been hitting the books pretty heavily the past few days, trying to get this all figured out, in between tutoring and plugging herself for a full-time position as a teacher. I'm somewhat rusty in my biology knowledge, but I'm sure she'll hit a place where there's something she doesn't understand. I'm going to hit some of my contacts back at UNC - I heard there's a new chair of biology - Steven Matson. Wonder what he's like...

In any case, I've got to take off... the Originals are recording! We'll have a new CD out, um, sometime. That's the plan right now, but Rockjam has been kind of iffy, so we'll see what goes on.

The rub... with my life.

David and I have been married for about two years now, and though I may be jumping the gun, I want to start thinking about starting a family… I’m one of the types that likes to be prepared and plan ahead… I have a touch of OCD, I think.

But therein, as the Bard would say, lies the rub. I may have more than just OCD. My father’s father died of Huntington’s disease.

That’s right. Huntington’s. The big one. Where, if it’s in your family, it’s there to stay, and complicate your life, and generally just be a big pain and make you question your existence, God’s existence, everything.

When my grandfather died of Huntington’s, I was very small and did not understand what was going on. I still don’t know very much about Huntington’s… my family didn’t talk very much about it.

They didn't talk about it at all. Want to know how I found out?

I was talking to my mom the other day about starting a family. She looked at me kind of funny and then started to cry a little. I couldn't believe it. I thought they were tears of joy, so I asked, of course, "Are you happy?"

Never have I been so shocked by an answer.

"No. No, baby. I'm not happy. I'm devastated. I don't know if you can do this. I think you might be devastated too. I'm sorry we had to do this, but we thought it was for the best."

Basically, she brought dad in, and he was SO MAD about being brought in, but he gave in, and they told me that my grandfather had died of Huntington's.

I had a big fight with my parents when I asked them how my grandfather had died – they had lied earlier and told me that it was old age. I don't know very much about Huntington's, but I figured it was something like that, just sped up and terrible. My father is adamant about not knowing his status in regards to Huntington’s. He absolutely does not want to know. But if I find out, then somehow he will know about it, so he's very against me getting the test. But that makes no sense, because I don't think that passing this gene on to my kids (if I have it) would be responsible at all.

Now the question is: should I get tested for the Huntington’s gene?

Maybe I’ll do some research first.

More later.

Back!

We're back, and if you couldn't guess, we went to China for a year... it was a pretty intense place, it was hard to adjust (and I still don't think I adjusted all the way, I was mostly going through the motions) but it's SO GOOD TO BE BACK! Now we can settle in, and do all those family sort of things once more ;)

-Thankful to be back on American soil,
Julie

Communication breakdown

Hi, everyone, David here... we're going to be on extended (and I mean EXTENDED) leave here for a while. Think about a year or so. I can't really talk about it a lot, but the firm is sending us on business overseas and we're going to live for a year. The problem is that we're not allowed to keep travel diaries or anything where we're going - access to the Internet is very restricted for security reasons. Check back around summer '07 for more updates.

Have a good year!
-David (and Julie)

Gigging!

What's up everyone, David here, just wanted to share something with you all... my band, heretofore unnamed, but now known as The Originals, has been gigging a lot lately, and (a digression) I am SO glad that Julie bought her Les Paul... she's been practicing so hard, getting back into her prime form... oh you should have seen the day she bought it... when I came in the door, she was playing Hendrix (not very well) but really trying very hard... it was so cute that I just had to laugh, and then one thing turned into another, and we nearly broke her guitar ;)
But in any case, WE (Julie joined as backup rhythm guitar, along with the rest of the band) GOT SIGNED. It's an indie label, Rockjam Records, but we're not in it for the money - hell, I pull in enough from my job :)
Just thought I'd share. It's been a really good month so far.

Job!

Hi, everyone! Ah! I got a job! :) :) :) :) :) :) :) :) :) :)
It's been a long time, but my guitar skills paid off! I just got a temporary job as a tutor at Juilliard! Yep, THE Juilliard. You know, the premier music school in the US, if not the world ;) I'm really excited, and I hope it can be a stepping stone to maybe a career in music education. God, I'm working at JUILLIARD! I'm going to go do a little happy dance now, perhaps for like an hour.
:) :) :) :) :)

- Committed to bringing ROCK (but most likely classical guitar :-\ ) to a new generation,
Julie

Christmas!

Merry Christmas, everyone! Our first Christmas in the big city has been AMAZING - ice skating in Rockefeller Square, the ENORMOUS tree, 5th Avenue all lit up with incredible displays... I LOVE living in the city.

-Hoping your christmas has been as nice as ours,
Julie