Category: Uncategorized

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.

Jeremy

He was in Illinois – UC for business last week Tuesday to Thursday leaving me at home with Vince and Edda – which is not too bad, but threw me off my regular schedule because Edda had afternoon camp and I had no childcare, Vince had various things he wanted to see/do – but would sleep in late. Jeremy met up with Huimin who was my officemate in graduate school – though I was very sullen at the time and he, apparently, was a rising star and is now a big shot at Illinois. I was so sullen then, I wasn’t sure he would remember me, but he said he did when Jeremy brought my name up and says that he knows Vince’s summer advisor at Irvine very well. It’s all like a little academic circle j- whoops – circle of life. He went biking on Sat and Sunday this weekend. I’m glad he is home.

Doris

I’m fine. I started Effexor at the end of January at 37.5 mg once a day, but I felt there was an afternoon depressive lull, so my doc (who I love) upped it to 75 mg a day, which I loved and was in a great mood and felt mentally perfect, but I was unable to poop for a month which was very problematic for me. Because of Edda’s historical chronic constipation, we had all the things I needed to manage my own poop stoppage situation: the fiber, the Metamucil, the miralax. Only the miralax worked. I didn’t correlate the chronic constipation with the upping of the med, instead I thought I was dying of colon cancer and inspected every poop I made for blood/shape/consistency in the way all people worried by Dr. Google is (are?) wont to do. I eventually went back to the doc and told her I thought I was dying of colon cancer or if not colon cancer, it must be something like ovarian cancer and she’s like, uhhhh, maybe we should lower the dose of the Effexor because your constipation happened the exact same time we upped the dose. And I was like – oh, that sounds so much more reasonable when you say it – because I had thought it, but had immediately dismissed it. So we lowered the dose back to the starting dose, and I can poop again (fantastic!), but my mood is more variable (and grouchy). I’m angry that I have to pick between shitting well or thinking well. But not too angry. I’m continuing to take kayaking lessons and having a lovely time. My lessons are almost over which makes me sad. We spent last weekend mostly in the river rescuing each other with ropes and buddy systems. My legs are covered in bruises from the rocks in the river. My whole life there were signs telling me to never ever go into the Potomac River and here I am spending hours on a Saturday knee deep in the flowing river. It’s been fun. I also signed up for guitar lessons. I’m worried I’m going to buy the boat and/or guitar and never use them.

Vince

Flew to Irvine on Saturday and checked into his dorm room today (Sunday). He has an entire suite to himself. Two rooms, eight beds and a private bathroom. Honestly, he is a lucky boy – this is an amazing opportunity for him. He spent the weekend with his partner’s Dani’s parents without Dani who is still in NorCal (this is a big step). The parents live near Irvine and they took him to pho for dinner on Saturday night and helped him move into his dorm during the day today. They might have even taken him to Target. They were up at Davis at the end of the school year helping Dani move some stuff and get settled for their summer and were kind enough to bring Vince’s bike and some bedding down from Davis for him. His program starts tomorrow! We’ll get to meet them at the end of the summer when we see him at Irvine.

Edda

She went through last week without any more seizures so we upped the med from 20 mL to 30 mL on Friday night. I put her to bed and the next morning I woke her up early so all of us could take Vince to the airport, and discovered she was covered in shit. We cleaned her up quickly and tucked into the car and dropped Vince off at the airport. Camp JCC starts tomorrow – I have not yet packed her backpack, I’ll do it tomorrow morning. Jeremy took her to meet her camp counselor on Friday during the day who seems great. I hope we can get this poop thing under control esp for camp. On Friday, I was talking to a few coworkers about working at the office and I casually mentioned that I loved the office because I needed a flexible job for Edda and that she had special needs and she has something called Rett Syndrome and she’s 19, but kind of like a toddler (and this whole week, she was making some noises next to me while I was working, so they heard her a little bit, but didn’t see her on zoom) and then I promptly forgot that I told them anything about Edda. A few hours after that meeting, one of the people texted me a very sympathetic note saying they read up on Rett Syndrome and then I had the chance to tell someone about the new med she is on and the new gene therapy trials that are going on. Ack, it kind of freaks people out when they meet me and then “meet” Edda.

Elka

She’s loving life.

Jeremy is out of town for a few days this week. So it’s been a bit complicated managing Edda’s camp schedule, my own schedule and finding hangout time with Vince. Vince and I went clothes shopping in the afternoon yesterday, and then we picked up Edda from camp and headed to the dog park with Elka.

Elka was thrilled to go to the dog park at a noncanonical time. What?!! 6:30 pm and it’s DOG PARK TIME? I’m gonna flip out!

Where is Jeremy? He’s in a cornfield. Somewhere.

Or next to a cornfield in a chemical plant.