Month: May 2007

Moving on (again)

Yesterday was my last day of work at A**. This coming October would have been my 10th anniversary. While the timing of my departure was not voluntary, I have thought for quite a while that 10 years was long enough to stay in this industry. I am proud of what I accomplished and the way I accomplished it. I learned a lot about one version of “the real world” and I am pretty sure another 10 years there would not have been as satisfying as the first. Of course I am also annoyed, insulted and shell-shocked. But since we have no roots or commitments here in Albany and we are in good shape financially and mentally, it seems as good a time as any to move on. As soon as we can make our arrangements we will get our gypsy caravan on the road again and head south to Maryland. We will look for new careers in new fields with all the attendant excitement and anxiety. Doris is excited as well, and the kids seem game, so here we go!

Three pronged attack.

Today I tried to visit another preschool. Because I’ve been speaking many, many people and making many, many appointments, I got confused about where this particular school is located and I ended up on this dead-end residential street with no way to get the correct address. I had the director’s phone number and I left a garbled, apologetic message about being confused and unable to make the meeting and she didn’t call me back. I wasn’t impressed with this school for a bunch of reasons, so I think I’m not going to bother rescheduling.

Edda’s IEP is going well I think. It’s like I’m writing a thesis again. I’m trying to envision an educational program that’s appropriate for her – basically what I want the school to work on for the next year. It sounds simple, but it’s basically convincing the school district to spend money on your child and it’s hard because there, of course, is a limit on the total budget. Of course, what I’d really want is for Edda to be able to do everything a typical 3 year old can do and forget about this IEP, but that’s how it goes.

And we are looking for a house. I liked 3 of the real estate agents who were hosting open houses on Sunday. We are going through the Buying Houses for Dummies book and doing all the things that they suggest even though I must pick up the phone and ask perfectly good strangers for answers. We asked a million questions to 3 agents, then asking for references from the agents and then asking those people a bunch of questions.

For dinner tonight, we BBQed indoors:

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House hunting.

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.

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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.

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Grandparents.

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.

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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.

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Skipping over the stop codon.

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!