Year: 2007

Today we went to eight open houses. We took the kids along and one of us would play outside in the backyard while the other adult went and toured the house. Edda is not a fan of househunting – I thought we’d be lucky to go through 3 houses.

I think a lot of people get very dreamy when they think of a house. How they are going to decorate it, how they are going to garden, all the great BBQs they are going to have. I mainly think about how much lawn work we are going to have to do and how expensive it’s all going to be. I really don’t like being beholden to a big mortgage payment, I like not being absolutely dependent on a job. I like having some money saved up and expenses low, but it’s not really going to happen with a house purchase. So when I’m at open houses, I usually feel a little queasy.

Anyways, what interests me most about a house isn’t the house itself, it’s the neighborhood and the people that live on the street. Are they going to be my friends? Will Vince be able to go to walk their houses and play? Will someone watch over Edda in a pinch if I have to go to the gynecologist (it’s really hard to watch her when you are trapped in the stirrups, I’ve tried it before.) Will I find a mom who will get up early with me to go running with Ruby? Or will it be a terrible thing where people complain that you left your garbage can out 12 hours too long or there is a big squabble about who pays for the snow plowing in the shared driveway? It’s all a mystery and hard to find out.

In order to fortify ourselves – we had McDonald’s for lunch. I’d forgotten about the indoor playgrounds, they didn’t have them in Singapore.

Also, this morning, we saw some locks on the Eric Canal. Kids and dog were afraid to cross the lock gates, so they were carried and escorted one by one.

Is Kappa always on his cell phone? – actually, he used his phone very little during his time with us, i just happened to take pictures of him on the phone.

The Cohoes Falls look a lot less scary this week. The total volume of water going over the falls has gone down at least 80% from last week.

OK, a brief science post.. OK, the gene that is messed up in Rett Syndrome is called the MECP2 gene. A gene is basically a set of instructions to build a protein. The MECP2 gene builds a protein that does something in neurons. So in someone who has Rett Syndrome, the instruction to build this protein is screwed up.

Let’s say the correct instructions are:

1. aaa
2. bbb
3. ccc
4. ddd
5. eee
.
.
.
.
24. xxx
25. yyy
26. zzz

OK, so the body knows that when it sees the step “aaa” it knows to begin building the protein and when it sees “zzz” it knows that it’s done building the protein. The “zzz” instruction is called a “stop codon”.

So what can go wrong with the instructions? In Edda’s case, there is a “deletion” which means one of the letters is missing, so you get instructions like this:

1. aaa
2. bbb
3. ccc
4. ddd
5. eee
6. ffg (the letter “f” is missing, everything shifts over 1)
7. ggh
8. hhi
.
.
.
24. xxy
25. yyz
26. zz

So for Edda, starting a certain point, all the instructions are messed up, every single step is “misspelled”.

Another way that the instructions can be screwed up is called a “nonsense mutation”. These look like this:

1. aaa
2. bbb
3. ccc
4. ddd
5. eee
6. zzz the insertion of a stop codon!
7. ggg
8. hhh
9. iii
.
.
.
.
24. xxx
25. yyy
26. zzz

So in step 6, the body sees “zzz” and stops building the protein. But if you figured out a way to get past the “zzz”, the rest of the protein can still be built because the rest of the instructions remain correct.

So this is what someone has figured out, how to skip over the stop codon! PTC Therapeutics has a drug called PTC124 which enables the body to go past the stop codon and build the rest of the protein. How they figured out to skip this misplaced one and not all the other 100 million correct stop codons in the rest of one’s genetic code is a mystery to me. I think they are publishing in this month’s Nature, but I haven’t seen it.

They are testing these already in patients with cystic fibrosis and Duchenne muscular dystrophy. They estimate that 20% of all genetic diseases are caused by nonsense mutations.

So this development, in addition to the recent news that Rett Syndrome can be reversed, puts a real chance of a cure for Rett Syndrome within the next 2-3 years for at least some folks suffering from Rett Syndrome.

Pretty cool!

I’m off to Wildflower to do my 56 mile bike leg. I predict a time of… 3:09:36!

I went out to dinner tonight with some friends. Now it’s late and I’m going to bed. Good night!

Well… apparently Digg is still somewhat useful. Look what I found on sale at Ebay. Ha! Apparently, it was never in the TV show, seeing as how they would destroy 5 cars an episode. Oh well. Here’s the news article linked from Digg.

I’m a pretty mainstream gal most of the time, but I do identify with the “granola moms”. You know, the moms that do the Bradley method for childbirth (no epidural) and have midwives and doulas, that nurse their babies forever, that cook everything organic and make their own babyfood, do attachment parenting and wear Birkenstocks.

I used to be a much more staunch advocate (with Vince, I did do 40 hours of labor without any pain medication and when I look back on myself I just think “Why did I do that?” But at the time, it’s what I wanted to do, so whatever..), but since I’ve become a mother 5 years ago and especially dealing with Edda and her needs, my views have softened quite a bit and I’m a live and let live about these things now. Not everyone has the same circumstances and priorities and that’s OK by my book.

My neighbor is really into all the granola-ness and invited me today to the Honest Weight Food Coop to the natural parenting meeting. I had a great time mainly because Edda had a great time – walking around and seeming really pleased to be in the middle of a whole bunch of babies. And everyone was very nice to us and accepting. It was nice. The food coop is cool too. Just what Whole Foods is suppose to be like before they became WHOLE FOODS, you know what I mean?

On a more stressful note, on the way out of the parking lot of the Coop, I had a fender bender in our rental minivan. I can’t decide what happened. I was behind another car making a right out of the lot into traffic. That person made a right without incident. Then I pulled up, stopped, and looked to my left for oncoming traffic. When it was clear, I turned right and then hit a car with my right front bumper. Of course, I have a picture

The driver immediately came out of the car and said that he was just “parked” there. But do you see how he’s parked in the driveway of the coop? How the curb starts right after his front wheel? I think he went past me on and then stopped right in front of me. Ugh. But I was moving and he was not.

Thank goodness it was only the cars and no one was injured.

You’ll probably only get this if you’re a geek.

Heh. I can’t believe the storm happening at Digg right now over the censorship of the HD-DVD encrpyption keys. I wonder if there will be any change or hit to Digg’s popularity or usefulness. Perhaps Digg has jumped the shark?

And maybe something Brian can appreciate: (It’s not a very exciting video)

Sheila, who comments often on this blog under the name sherah, is my absolute hero when it comes to clutter control. In her house, there are no piles of papers, no old magazine issues, no things that are unused or unloved. Everything has it’s purple proper place. It’s neat, yet not intimidating – orderly, yet not fussy.

The last time we got together, she told a funny story about how she got rid of her toaster. I looked at her and asked what she did when she wanted toast. She said, “The oven toasts just fine! I can’t have 2 things in the kitchen that do the same thing.” I couldn’t believe it. No toaster!

So, Sheila, I though of you fondly when I found Jeremy this morning, bent over the open oven door, toasting our morning breakfast in the oven.

We started visiting schools for Edda – today we went to the Spotted Zebra Preschool (love the name). This school was opened in 2005 by a parent who wasn’t satisfied with the preschools she saw for her autistic son. It’s an integrated program – 12 kids in each class, 6 special needs and 6 typical kids. They focus on kids with language and social delays. Edda has more physical needs than they typically deal with. They are also full for the fall, so we’ll keep looking.

But we did take some time to enjoy their playground (Jeremy in his work clothes).

Our sweet, next, next door neighbors invited us for dinner tonight. Vince and I made a pound cake for dessert. I’m not sure what is going on with our oven – the recipe said 50 minutes at 350F and I think I had to bake it for twice that length of time. So frustrating when you go in to get a cake and the top is still liquid. Ugh. Also, I let Vince lick the beater.