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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.

I didn’t really see Vince until 5 pm on Saturday afternoon because he came in late on Friday night (he came into my bedroom to give him a hug) and on Saturday morning, I went kayaking, so I gave him a kiss on his sleepy head and headed to the Potomac for my lesson. This time I managed to bring my phone and take three photos of my “rapid”. Can you see it there? It’s like 6 inches tall and probably could have been traversed more easily on an inner tube.

I had such a nice time on Saturday. I love being out on the water, it’s a good mix of meeting people and being on your own. (I met the CEO of our local food bank – I had wanted to volunteer for the call center earlier this year, but everyone seemed to be volunteering from home, but he insisted that I try again, because it’s changing to more in person.) Physically, it’s a mix of endurance, strength and flexibility. While I do have aspects of the required physicality, I’m quite bad at putting them together to kayak well. There are people who are quite good (the best person, I found out is an experience canoeist) and just understand their body well. There are people who are beginners and kind of tentative and careful and focus well and execute well. And then there is me, I want to try many times, because I don’t have a boat or very many opportunities to try with an instructor right there – so I tried many times and I “fell” many times. I learned to rescue myself and I learned how to have other people how to rescue me. Kayaking is very much like skiing or snowboarding with the leaning or catching an edge. There is reading the water and deciding on a line – the canoeist was the best one because he’s read the water the longest and was trying (along with the instructor) to teach me – look at the water – do you see the V? go to the top of the V? I saw nothing except flowing water. Then there was the instruction – do you see that big rock over there? There were many rocks, you know, over there.

Of course, the instructor, Nate, who I like very much, said the thing that is true about everything – you are a good athlete, you are just thinking too much and not relaxing. Relax. Work with the current, not against it. To which I was like – this is the story of my life. Work with the current, not against it. Relax into it.

Vince is home! He came home Friday night and Jeremy took one for the team and picked him up at the airport close to midnight. He’s home for only a week and then back to California to do a summer research internship. This is a program funded by the NSF at many universities across the country to encourage students to go to science/engineering grad school. Everyday during the 9 week program, there is a presentation about what grad school is like, or how to prep for the GRE, or how to write a statement of purpose. They are doing a good job so far because Vince wants to go to grad school which, if you had asked me if that was a possibility when he was 16, I would have said no way. He knows his faculty advisor and the grad student he’s going to work with. He just needed a suit.

Jeremy and I spent some time discussing the necessity of a suit because, while the list of “nice things to wear when you give a presentation” did include a suit, I was like – no one, especially no one in SoCal wears a suit to anything. Jeremy rebutted and said – suit is on the list and I wore my own suit just a week ago (though I did wear shorts because it was a zoom suit). Actually, it’s also because for the women, it did not say a pantsuit or a blazer/matching skirt and because the women were not up to the suit level of dressing, I didn’t think Vince needed to either. Anyways, this whole thing was solved when Kappa (Bob aka Kappa and Katherine aka Kiki arrived on Friday night for a quick visit with Vince) was so thrilled to hear that suit buying was on the list of possible activities, that he took over that task and shuttled Vince to go shopping for a suit and two hours later, the suit was purchased and in for slight alterations and it will ship to him in Irvine after the tailor is done with it.

Bob and Katherine were in town for less than 48 hours and the visit was very nice – low key and enjoyable. We had dinner on Saturday night at A & J with Louisa and Leon. We’ve never been to A & Js for dinner and we were surprised to find it not very crowded and could seat the 8 of us without a wait.

On Sunday, we walked to Rockville Town Square with the dogs (Jeremy pushed Edda the whole way there!) and had an outdoor lunch which was lovely. The air quality wasn’t the best, so Jeremy took a scooter home and picked up the van to come bring us home.

Actually, my most triumphant thing of the weekend may have been spending a couple of hours fixing Bob’s email system. Having him ditch apple mail/calendar and switching him to gmail and google calendar. The apple based email system wasn’t syncing correctly and he’d delete certain things on his phone and it wouldn’t delete on the computer. It was a mess. The first hour was spent trying to get his existing system to work, but then giving up and the 2nd hour was spent migrating to the new system. (My life is so boring. I know.) But hopefully it is less of a mess now – so go send him an email! He’ll get it on his phone or his computer at the same time.

We hosted Sunday night dinner with the DC Martins. It has been a long time since Vince has seen them because he didn’t see them for Thanksgiving because we were out of town. And we had the covid Christmas where we saw no one.

Edda’s last day of school was on Friday. And now begins the summer. It was a nice year for us at Edda’s school. We are very lucky to have had a 3 teacher team in place for many, many years – through the pandemic. Without them, we would be lost.

We are, unfortunately, having some trouble with Daybue. Edda usually has one night time seizure a week while being on Keppra and Trileptal. This week, her first week on Daybue, we saw a seizure almost every day. Monday and Tuesday were nighttime seizures. Wed, Thurs and Friday were daytime seizures. The daytime seizures are very unusual for Edda – we haven’t seen then in over a year. Yesterday, Saturday, we were out for dinner and Edda seemed to have that seizure-y aura about her, but we didn’t see one occur. Anyways, we are holding at 1/3 dose for another week. The specialty pharmacy said they knew seizures were a side effect so it wasn’t surprising, but they had no data to indicate whether it is a long-lasting side effect or if it fades with use of the med. We have an email out to our neurologist at CHOP, but haven’t heard back yet. So we are holding steady. Her poop tho, is completely fine.

Eliana is a very entrepreneurial person (she’s Edda’s weekend caregiver) and always has lots of business ideas to try out. She’s trying to be a home organizer/declutterer person. I always try to be supportive to Edda’s caregivers so I hired her to help us organize some spaces in the house (and so she she can have some photos for marketing) with the understanding that we may not be able to maintain her level of Mari-Kondo. We are actually kind of messy, disorganized people and we are always trying to be better, but we fail all the time. (This is also why we can’t have nice things.)

So organizing the house is a tricky thing because I know Jeremy, even though he is a very sweet person, does not want anyone organizing his stuff. He has strong ideas about where things go which he painstakingly tries to explain to me so I can follow the rules (cheese in the bottom drawer, yogurt on the top shelf. Take eggs from the left carton and move to the right carton, etc.) – which I agree are reasonable but are not the way I would organize the space (I often mess up) – so his spaces like the garage, the kitchen/pantry and his side of the closet were off limits to Eliana. So I let her organize various bathroom spaces and my side of the closet.

This is under the sink on the first floor. (Jeremy didn’t even recognize it as part of our house, when shown the photos)

Before:

After:

My closet before:

After:

After Eliana organized my closet, I showed up to bed in my Peanuts branded pajamas which I haven’t worn since before the pandemic. Jeremy looked at me and said – oh! real pajamas. I said – I have no idea where my favorite pants are anymore now that Eliana refolded everything and I don’t want to mess up the neat piles. (My favorite pants are these cheap Champion sweatpants which I have mended the crotch at least 3 times that I wear every night to bed and every day until I work out at 3 pm through the whole entire pandemic and even through to today, I wear them like 18 hours everyday). Jeremy was like – thank God you can’t find your favorite pants anymore. They are not good pants.

I spent ten hours this past weekend learning how to white water kayak in the Potomac River. This past winter, I signed up for a month of lessons through the organization that put on the winter rolling pool sessions of which I attended three. This weekend was a two-day group lesson with about 15 people and 3 instructors and I had a great time even though I am so sore all over my entire body when I woke up this morning.

I love things that put me with new groups of people. Nursing did that and this does it too. It’s a little bit expensive and a little bit adventurous, so I got introduced to a bunch of young professionals, pre-kids who are rugged outdoors people. They argue over the best pizza place in downtown DC. They talk about moving to different places to try out different cities in this young-person kind of way. It’s very nice. The instructors are all my age though all male. I am very comfortable in the water, but I do not like to take risks. So I’m not ambitious in the sense that I don’t ever want to do dangerous things in the water, I just want to have fun. And I got to do that, I got to flip my kayak upside down in the river and re-right myself. I got to go on a rope swing and cannonball into a river. I got to learn to do S curves and paddle upstream for like a quarter of a mile (quite a workout) and while far from the best in the group and often times bringing up the rear, I could decently keep up without any pain in my body and I was so grateful for that.

I really loved this weekend. I hardly get to do these types of things. I’ve run alongside the Potomac for a decade and seen boater/kayakers from the trail, but I’ve never been in the water. It feels like getting to know a friend better, you know?

We got past the first hill/concern with Daybue. Edda seems to take it just fine, at least 20 mL of it. She is pretty good at refusing things she does not like, but it’s been fine so far. No poop yet – firm or loose to report. We’ll keep you updated.