Category: Uncategorized

I worked very very little this past weekend which is unusual for me. I often do put in substantial time on the weekends because my days during the week are often interrupted with camp drop offs/pickups, paddleboarding with Elka, seeing friends for lunch, etc. I’m quite lucky to have such a flexible schedule, but it does mean that I often don’t get into a flow state. I’m always interrupted and each day is different in the same sort of way, so it can be hard for me to reconstruct yesterday when I’m in today. Sometimes, the weekends are the quietest for me when I can get a lot done.

On Saturday, I went to see Past Lives (by myself). It was quite good, but I wanted it, somehow, to be better. I dunno. I think my attention span is now shot and I can’t watch movies that are just character and conversation based without getting a little bit bored. On the other hand, I watched that new Spider Man movie when Vince was home, and it was so hyperkinetic that it gave me a headache. I got a haircut and I ate lunch out and I came home.

I was expecting to work all day on Sunday, but I happily got a text from a new kayaking friend asking me to go kayaking with her and her husband on Sunday morning. Her husband is also a kayak instructor and I knew we weren’t going to do anything crazy. I did flip the boat at the end of the outing and I managed to do it close to a very stinky part of the river. I was hip deep in rotting silt trying to empty the boat of water and also to not lose my shoes 2 feet below the surface of the muddy bank. I came home covered in dirt and very very smelly.

Jeremy biked a lot.

Edda upped her dose to 50 mL on Friday night and there was poop everywhere on Sunday afternoon. Isabella was here to help, but man, it was something. So we backed it back down to 40 mL to reassess. I’m not sure where we are going with this. Jeremy and I don’t see any improvement with Edda’s symptoms.

Jeremy and I went Friday morning for a quick Elka/paddleboard training session. We headed to Riley’s Lock where there is a boat launch and a gentle slope into water that is not very deep. We did this for about 15 minutes. Goal was: to get Elka to sit on the paddleboard for any amount of time.

Elka does not know how to swim, so is a little nervous going into water deeper than her chest. She should be able to swim as she is part retriever, but she hasn’t had anyone show her that it is possible.

Photographic evidence that Elka did get on the paddleboard for about 10 seconds. We forgot to bring treats – our mistake. Next time.

Our dining room table (obtained from craigslist when we moved into the house) is getting sticky. The last time it got sticky, we did refinish the top ourselves, but it took months because we are not well coordinated and indecisive. And then after a few years of unsticky bliss, the finish got sticky again and this time, we turned the table 180 degrees and used the unsticky end until it also got sticky (we usually are only 3-5 people, so we usually sit at only one end). And instead of refinishing the table, I covered the entire thing in an old-school oilcloth tablecloth we can wipe down forever. Orange.

Elka so so much wants to be friends with all the deer in our hood. She gets pretty close a lot of the time.

Yesterday, I went to Alexandria with Megan to a cat cafe. What is a cat cafe? It is basically a very nice room in which you can pet about 15-20 cats who are all available for adoption. We paid about $20 a person for this privilege and had a very relaxing time. I had almost wanted to take a cat nap, lol. Megan’s been having a tough time and is a dedicated cat lover (3 cats), so I thought this would be a nice relaxing outing for the two of us. Though I had to make sure Megan didn’t come home with an extra cat. We both enjoyed the company of Sassafras who might not have enjoyed being handled exactly this way.

Megan was drawn, of course, to the special needs cat Pumpkin Shot who had three legs and was recovering from surgery. The cafe had about 15 people in it, but we were all quiet because we are cat people. It appears to be a popular idea for a first or second date because it’s located in the hip Alexandria downtown and there were two young-ish couples who seemed ever-so-slightly overdressed for the occasion and seemed to be awkwardly not talking to each other.

Megan and I had a long discussion about Daybue and so I do want to put a caveat on my pessimistic post before. We both agree that if there is a modest, but true benefit to Daybue, it quite possibly will be masked by Edda’s age. I know something is doing something in her brain because of the increased seizures during the first week of admin. I also think that if she is magically “cured” (like via gene therapy or some other method), that she will never recover fully and be like a regular 19 year old. It’s unclear to me that even with a full cure if she would be able to learn to talk or move well given that she has not practiced her whole life. If Daybue does anything, it would be much more marked in younger patients at the beginning of their neuroplastic development which there is not enough data to show if this is true or not.

Saturday night, we had Edda’s teacher, Mr. Pat and his wife, Teresa over for dinner and it was lovely and though he’s been Edda’s teacher for many years, we haven’t really had a chance to talk socially in a relaxed environment. He and his wife are so super cute together and she’s a special needs teacher too. It’s wonderful to have such dedicated and caring people in Edda’s life.

On Sunday night, we went to Eric’s for dinner and omg, it was the best Sunday night dinner food-wise in a long, long time. Eric made the most delicious shrimp paella and Claire Saffitz’s almond cake which Jeremy and I had watched earlier in the week and we were both like, OMG that looks delicious and when I went to Sunday night dinner and saw it, I was over the moon excited to try it. And it was amazing – so good, so almond-y.

At Sunday night dinner, we talked about the supreme court rulings, the gay website, affirmative action. I am interested in the affirmative action ruling. I have feelings about it, but they are complicated and nuanced as these things often can be.

And I bought a boat. I’m hoping to use it sometime. It pretty much negates all the stuff I’m decluttering out of the house.

I went on my last kayaking lesson yesterday. The air was still bad, but I went with my other intrepid students. This time, we kayaked along the part of the Potomac that hugged the part I’m most familiar on foot because we started where I often start my long runs on Sunday morning at the Old Angler’s Inn parking lot. Because I knew the parking would get bad close to the meeting time at 9 am, I got to the parking lot at 7:30 and read a book (I’m a paranoid nut about parking. I don’t like to go to things where the parking is hard and complicated and even in easy parking situations I’ll park way in the back of the lot. If you are a friend and don’t mind driving, I’ll ask you to drive every time, unless I’m also constrained by my other paranoia which is being stuck at something without an easy exit. Then I will balance the parking phobia with the quick exit phobia and see which one wins out.). Parking was not super easy to find even at 7:30 am.

I had a great day and I love it so much, I overcame my other phobia of social awkwardness and I asked for everyone’s phone number and I’m going to start a chat so we can all go kayaking together. (So that’s 3 phobias so far: parking, leaving a party when I want to and asking other people to be my friend – shall we keep going? Haha. No. There are many more.)

Vince had a great first week in lab, doing PCR, growing E. Coli, etc. His grad student (who seems great and super involved) gave him homework to learn to uncap and recap a test tube with his non dominant hand because you need to pipette hundreds of samples – so you hold the pipette in your dominant hand and uncap and cap the test tube with your non dominant hand so you can go faster. That’s what grad students are essentially – robots. Dani, his partner, came down to Irvine to see their family and Vince and the lot of them are traipsing around town showing Vince the good stuff – like hot Cheeto infused hot dogs?

We had a very social day today. In the morning, I went to see Kristen. We had planned on going paddleboarding, but the air was terrible and I actually preferred to go see the house she and her husband are renovating. During this visit to the house (beautiful! – she was self-conscious that it seemed not quite done and declared it a construction site, but it seemed more done than my house which remains, after 15 years, contractor white or as Jeremy said tonight just dirty white) I somehow ended up recommending a piercing place (Bethesda Tattoo) to her daughter and when I had to leave at noon to go back to work, they went off to the appointment and the daughter got two ear cartilage piercings. They, meaning Kristen and the daughter, are very enthusiastic about me getting an eyebrow piercing, but I don’t think I can do it when I’m dunking myself into the Potomac weekly.

At the same time, Jeremy’s friend Dan from Delaware came to buy one of Jeremy’s old bikes (the Surly Long Haul Trucker if you care), and they were going to ride, but the air was terrible and they spent a couple of hours chatting and fixing up some bike things and that was fun too. I’ve been working hard on getting rid of stuff in the house, posting on our neighborhood “buy nothing group” which I post things to give away everyday and people say they are interested and I pick one person and I leave the item on the porch and they pick it up and take it away – magic. Anyways, Jeremy did his part by selling his bike and because they are friends, they negotiated in reverse where Jeremy offered to sell at a low price to give his friend a fantastic deal and then his friend offered a too-generous price for such a used bike and after a few rounds settled in the middle. I know I’m a pretty dedicated exerciser, but the #1 thing I’m finding in the closet to give away are barely used exercise equipment that I get excited about and use for about a week and then give up on them. (gym rings, many types of balance boards, an aquajogger, etc., etc..)

Edda started camp on Monday. We love summer camp! It’s not without hiccups. I do the AM dropoff and Ginny does the afternoon pickup. Ginny has has some trouble with the afternoon pickup routines, we’ve already had a one-on-one counselor quit on us. But we are managing and Edda has been in the pool and has gone on field trips and – as far as I know – hasn’t had a disastrous poop incident. Whew.

We got to see V’s new accessible van – with a toilet and bed and it was very impressive and exciting.

Last night, I got to go kayaking at Little Falls. It was exhilarating and unbelievable and I felt so alive. I came home muddy and wet and with leaves settled into my sports bra and felt like I was a child exploring the world. This was part of my class, I would never ever do this on my own or even with friends that I didn’t know very well. There were about 6 students and 3 instructors each with decades of water experience. They taught us the line, they gave us pointers – keep going, keep going, keep paddling! I flipped the boat once and bailed and my boat and paddle went straight down the river, they retrieved the boat and the paddle and I got safely to shore and made my way back to the boat. And I made a friend! A young woman who is going to law school. I got her number and we’ll go kayaking together. The people in the video went when it was cold! No way no how am I adding cold temperatures to the adventure anytime soon. Summer air temperatures only. They also did fun controlled moves which I also did not attempt. I just went straight down as the water carried me trying not to flip over.

Vince is in a lab! A beautiful space with windows. When Jeremy was in grad school, he spent the first few years doing research in the basement and then, later on, he was in the sub-basement. He insists that all good research happens subterranean-ly. But I think it’s better to spend your time in the light. Vince called us excitedly about plasmids and cofactors and E coli and then we both said uh-huh at the right time and smiled because we have literally no idea what he is talking about.

They gave him this desk with an old Mac which says “Li lab undergraduate research computer”. I asked if he had me the PI (principle investigator) yet and he said – no, she remains elusive. Look at those floppy disks!

It was with some interest that I read the following article in the New Yorker:

https://www.newyorker.com/magazine/2023/06/26/relyvrio-als-fda-approval

Which talks about drugs for rare diseases getting fast tracked into clinical trials and then into approval by patient advocacy groups. For example, let’s say one gets an ALS diagnosis and has 3-5 years to live. There is a medication, that one hears, that maybe gives a person 3-6 more months to live. It slows down the illness, but does not arrest the devastating progression. Of course, it costs a bajillion dollars and of course, you want it. The FDA says – umm the data doesn’t support 3-6 month extension of life. But then people argue – you are leaving me out here to die, I want the med. You are denying me my deserved treatment. The patients say – don’t analyze the data this way, analyze it this other way. Throw out the bad data points because – well because they are bad. The drug is approved and many patients take it. Some exuberantly champion it as extending their life, others take it and wonder if it is doing anything at all.

I will tell you that I don’t really believe the Daybue will “work”, but I’m a pessimist but open to being convinced otherwise and will be happy if I’m proven wrong. Even if it does work, it doesn’t mean that she’ll be able to eat on her own or wipe her own butt by herself. What does “work” even mean in this context? I know many people are hopeful on Edda’s behalf and I know lots of work went into bringing this drug into my house, for that I’m grateful.

I sat down with the phase 3 clinical trial paper for a bit this past weekend, after Vince left and after Edda had her first instance of diarrhea to suss out the findings and the data a little bit. Why didn’t I do this before? Because I was just living my life and I’m ashamed that sometimes I don’t delve deeply into things that make me nervous. I was going to look a little more at the questionnaire they used to quantify the results and perhaps think about the p-values (remind myself what they were). The p-values were strong, the data looked ok. I wanted to really focus in on how much better the drug was than the placebo, so I started to look into the Rett Syndrome Behavior Questionnaire – what exactly was the difference between the data of the placebo group and the Daybue group. Then it slowly dawned on me that though it was a randomized double blind study in theory (I have no doubt about that), that because of the diarrhea, it ended up, in practice to be not a blinded study. All Rett girls are constipated. If you were in the trial and all of a sudden you had copious amounts of poop on your hands, you knew you were not in the placebo group. And, I think, that would have been enough to skew the qualitative results the amount that it was in favor for Daybue to have a positive effect. This made me feel sad, honestly.

So then, why are we taking it? I will tell you it’s painful to give something to Edda that gives her more seizures than she had the week before and/or diarrhea, it’s also hard to field the questions, do you see any difference yet? Mostly the answer is, no or sometimes when Edda is laughing, maybe? We are taking it because 1) I’m on the phone with the pharmacy/company every week telling them the side effects and what I’m doing to alleviate them, so I’m hoping that I’ve giving them more data to work with and 2) I’m trying to tell the drug company (and other drug companies that are out there) that there is a market for medications for Rett Syndrome. I’m trying to tell them it’s worth spending continued time (and $) doing research on the tiny illness here in my corner of the world that probably will soon cease to exist because the genetic screening will get so good and cheap that many many fewer babies will be born with Rett (at least in wealthy countries).

The one paragraph in the New Yorker article that was striking to me was that if the ALS patients were given $100,000, what would they want? Research into a new drug? Home modifications? Or home health aides and people to help live your life? Most people picked the home health aides. The insurance company is going to spend on Edda $76,000 a month for this med, meanwhile, I’m scrambling trying to find an adult program that will help Edda live her fullest life in two years for the rest of her life. There is no money there, I can tell you that right now.