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It was a lovely weekend. Rainy on Saturday, but pretty the rest of the weekend. Jeremy was social this weekend with a meet up in DC on Saturday. We only had Edda-care on Saturday and I needed to get out of the house so even though it was rainy, I took Elka on one of my favorite Elka walks around Clopper Lake – about 2 hours. We did get wet, but the trail was empty which is my favorite.

On Sunday, I met up with Lana and it was really fun. We haven’t seen each other in a long time – before Vince got into college, before I even got my nursing job, so there is a lot to catch up on. We talked about retirement! I can not believe it. Our plans (which I will keep mysterious) might rejoin in the next decade – it’ll be funny if it works out the way it’s supposed to work out.

Jeremy hosted a very quickly arranged Sunday night dinner which was fun and quick.

What made me the happiest this weekend is the solidification of Vince’s summer plans. All of his friends (it felt like) had lined up internships and science-y/engineering-y summer jobs months ago (or a month ago) and Vince had applied to a few (maybe 10?), but hadn’t heard back from any of them and we had talked about this. He was both resigned and happy to be a camp counselor this summer – either at home at Edda’s camp which he was a counselor at after freshman year (they would take him back in a heartbeat, all last summer (the summer after his sophomore year when he spent the summer in Davis), they asked where Vince was or if he was coming back) or at Philmont scout camp (which I was encouraging him to go to – it would be nice to spend a summer outside). It would have been fine, but I knew he felt a little disappointed, but on Friday night, he got an acceptance into an research experience for undergraduates at UC Irvine. He’s very, very excited and so am I. You can read about it here. He said after had written back accepting the Irvine position, arghhhh, applying to things is hard! I was kind of sad that I hadn’t gotten anything, I was going to play off the Philmont thing as – yeah, I’m a mountain man this summer, but this is better.

Jeremy rode to work yesterday and spent a lot of it outside in the daylight. It was a nice ride and he got to socialize with people in the office which was nice. It was nice for me to have the house entirely to myself. I’m not sure why it makes a difference, Jeremy won’t talk to me for hours at a time and, I, am of course, completely comfortably with him, but maybe I can “let go” more? I have no idea what that means.

I spent a few hours with Vince on the phone/video doing some taxes, financial stuff, renewing his driver’s license – this year we upped the technology a bit by sharing screens, lol. He totally is a having a great year – doing very well in classes (like impressively well, I think better than I was ever doing in a major that is harder than mine – I’m so impressed!), having a nice social life and enjoying his time as a junior. This is his spring break week – a little late for most colleges and he had plans to go to a friend’s home in SoCal for the week, but that fell through when the logistics became hard. Then we asked if he wanted to spend some time in San Francisco or go somewhere local in the area (or even come home – our friends’ kids have run the gamut from going home and playing video games to going to Mexico where there is a running tap in the hotel room for vodka), but he said he was looking forward to a quiet week on his own, catching up with sleep and just meandering around Davis doing what he wanted to do on his own. We are all homebodies in the end.

Edda’s spring break is next week. We have no idea how to travel so we are managing only to work and Edda has camp! Instead of traveling, we are taking in another animal – Jojo, our doggie friend next door for the week. She is sleeping at my feet right now. She also likes to sleep on the bed and lick me intermittently throughout the night and wag her tail – thumping on the bed – in the middle of the night. We’ll have to work on that.

Elka is still not reliably housebroken and it gets worse when there is “action” in the house – so Jeremy and I decided to have her wear the pants that she wore when she was in heat. But now we call them her “party pants”. I’m hoping this will save us some arguing.

I moved into a new position at the patent office this week where I’ll spend 30% of my time in Zoom meetings. I did this primarily because after I gave up my nursing job, I felt like I needed to do something different professionally – it wasn’t going to be going to nurse practitioner school (which I had turned down for a Fall 2022 start and had been the original plan back in 2013 when I started regular nursing school). It’s a program where they selected 36 examiners from across the agency to work together to brainstorm ideas to improve the examination process and then test them out before implementing them across the corp. There are 8,000 examiners across the country, so it could impact a lot of people’s workflow. I also did this because I kind of missed the entire pandemic driven evolution of work-from-home in the sense that my work from home job rarely involved other people, I really just worked by myself. And my not-work-from-home job involved absolutely no zoom meetings at all. So I felt like I wanted to understand this new “work culture” of zoom meetings. Which is different! I’ve had 3 hour meetings every day this week in which I’m just listening and participating in only occasionally. The first thing I noticed I needed was something to do with my hands so I wasn’t so completely bored and wander from the meeting, but nothing too exciting so I wouldn’t pay attention. Jeremy immediately recommended solitaire (he’s been at this zooming for a long time). I find sewing to be the right fit – I used to hand sew all of Edda’s bibs (which are a bandana with a small square face towel sewn in to make it absorbent) and I had to give it up to machine sewing many years ago because I didn’t have the time and she would go through them too fast for my hand sewing, but I reverted back to the hand sewing to get me through the meetings. (I like the hand sewn ones better. I wonder if I have any of the original ones left from when Edda was small. Unlikely.)

I’m more time constrained now, given the frequency of the meetings – I’m sure it’ll taper off in a few weeks. I was supposed to meet up with a pal on Tuesday to walk, I made it to the hiking spot, but her GPS took her in the opposite direction and we couldn’t meet up fast enough to get me back to my desk in time. So Elka and I walked on our own (quickly).

The day after the party, Jeremy and my parents embarked on Operation kitty kat. Emy and Seth have finally settled down on the west coast and we needed to get Ivy over to them. It just happened that my parents had a booked direct flight from DC to Portland. So we came up with the idea that the cat should travel with my parents to Portland. Kudos to my dad who is a good sport and was willing to fly with a diabetic cat. Jeremy found out all the requirements and bought the crate and managed the logistics. My dad practiced putting the cat in/out of the crate for going through security (crate through the X-ray, cat through the metal detector).

Jeremy packed the insulin in a thermos and a sponge-bob lunch container with some insulin syringes. Everything went through security fine, but Jeremy did such a good job with the cooling that the insulin froze (and therefore, was ruined :(, poor Jeremy).

We had an Apple Air Tag on Ivy and could see him traveling through the airport.

Emy and Seth met my parents on the West Coast and picked up everyone and drove them home. Ivy did great! My dad did great as well. Now we have like 3 days with only Elka until we have other animal border. Yikes! We like to run a pet sitting business on the side.

Acadia got FDA approval for a new drug a few weeks ago that is going to be marketed as Daybue and it will be the first drug specifically to treat Rett Syndrome. You can read about it on their website: here.

There are two major Rett Syndrome charities: The International Rett Syndrome Foundation and the Rett Syndrome Research Trust. Both were started by parents with children with Rett Syndrome. One might think the community affected by Rett Syndrome is so small, wouldn’t one organization be enough? And wouldn’t it be better if they joined forces? But it is not unusual in these small medical communities where the stakes seem to be so high to have two or more groups because of different philosophies, different strong personalities, etc. There is a long, long history of the two of them and if I had to describe them in a few words, I would say IRSF is more family-support-based and RSRT is more science-cure based. This was more true when Edda was diagnosed but over the years, IRSF has certainly incorporated more scientific discovery, etc into their repertoire. Now if I had to differentiate the two from a scientific standpoint (with no real evidence, just my feeling), IRSF likes to work with existing drugs and/or traditional modes of finding treatments/cures, RSRT probably focuses more on the “home run” cure and leapfrogging into newer genetic technologies. I am forever grateful for the passion, hard work, tenacity with which both organizations help families and our loved ones. We have taken advantage of both organizations’ programs. I have friends who are passionate about one or the other organization. I, as I am generally low conflict, wish that there was only one so I don’t have to choose, but I can see why they needed two. We’ve generally supported RSRT because I prefer their scientific approach and their transparency regarding their finances.

But! This first approved drug trial was funded and managed by IRSF, and Dominique, the Chief Scientific Officer, is a friend and did come to Edda’s party to say hello. And we were able to talk to her about the drug.

I have mixed feelings about this drug. I’m ecstatic that there is a specific drug for Rett Syndrome. I’m hopeful that Edda might show some improvement – I’m most focused on having her, perhaps, to not need her arm braces to control her involuntary arm movements. But there are some drawbacks – first, the biggest side effect is explosive diarrhea which is for sure a big deal for someone who needs someone else to help clean them up. Eric Marsh, our neurologist at CHOP, and his team have developed a pretty good bowel regimen to control the diarrhea. The second issue for us is that it’s a 50 mL dose twice a day and that it tastes pretty terrible. Edda is not a big drinker, so to get her to reliably take the medication will be something we’ll have to see. The list price for this drug is about $20 a mL, so that’s $2000 a day and almost three-quarters of a million dollars for a year’s treatment. Now, Dominique says that the company is ready to work with the insurance company to get it covered, so I’m not sure how that is going to work out, but I anticipate that it will be covered long enough at least for us to try it out and see if it is worth the trouble.

A few days before the party, RSRT released a fact sheet of their interpretation on the data: here which sets forth a more unsympathetic analysis of the clinical trial data. The most important takeaway from this analysis is that 61% of the people saw no improvement. The clinical trial promised that after the double blinded study, your child would have access to an open-label trial, so if you signed up, you would be promised to have a chance to try. In that open labeled period, almost half of the participants withdrew from the study.

We have an appointment in the first week of April with our neurologist where I anticipated we’ll get a prescription for Daybue and we’ll try it out. Dominique says that it should be covered at no cost to us through our insurance and it’ll be delivered to the door via refrigerated shipments. We’ll see!

Friday was Edda’s 19th birthday and, though it always brings me a little sadness, it was also mostly a happy day. She went to both school and aftercare and Megan, one of Edda’s teachers, sent me the most wonderful birthday gift as a video. Edda is often not very engaged in activities and because she is limited in how she can control her body, she can not participate in many things on her own. But here she is, in the balloon inflating room (the special needs kids run a little in-school business where they sell balloons and they learn the skills needed to take the orders and fill the balloons, etc), totally entranced by the balloons and actually reaching out to play with them! This purposeful use of her hands is extremely difficult for Edda and it warms my heart that she was able to do this and have some fun on her birthday. She is also in such a great mood in this video.

We spent a bunch a lot of Saturday preparing the house for the annual pancake breakfast birthday fundraiser on Sunday. We cancelled in 2020, 2021 and 2022, and we decided only a few weeks ago that we would hold it this year. We got almost 80 RSVPs, and so we set to work. Most of it was Jeremy as he prepped all the food (pancakes, bacon, coffee, juice, blueberry compote, fruit salad). To host 80 people in the house, the whole downstairs needs to be reconfigured, so I ended up doing most of that. Eliana helped on Saturday with the decorations and Megan came by on Saturday night to help with last minute arrangements.

The morning of, our sous chef came (Shaney – Ginny’s son), who was amazing and totally is welcome to assist any with cooking any day.

Both sets of grandparents were able to attend.

We were able to have some outdoor seating, we lucked out on the weather.

Lauren made the most beautiful cake!

Edda and I sporting matching outfits, lol. I wish I got more pictures, but I did not. The house was full of people and pancakes, we got to see old friends that we haven’t seen for three years. One of the most comforting/exciting things was that we got a good cohort of Rett families to show up. We used to get together more regularly, but it hasn’t happened in a long long time, so it was nice to catch up and see the girls and to chat about the new drug that just got approved to treat Rett Syndrome a few weeks ago, which, based on an informal survey, we are all going to try. We all have some reservations, I will explain in the next post perhaps. It’s a symptomatic treatment for Rett, generally suppose to – as I say – “make Edda 10% more awesome”(to which Mr. Pat, another one of her teachers, says – well that will be very hard because she’s already super awesome).

Happy birthday sweetie! She is 19 today. May the force be with you. <3

Look at this beautiful sunset!

I often think I should do more things “for fun” – like going to plays, or sports outings or concerts or cherry blossom viewings or whatever. I think I don’t really know how to have fun or anticipate having fun. Like – I almost never “look forward” to something even if it’s a spring break vacation in Miami or (which is suppose to happen!!) seeing a beloved friend or eating a delicious cake. My mind always slides to the hassle, the potential fights, or the extra pounds. So to remedy this tendency, I get on a kick of signing up for random things and trying them out in the name of learning to have fun. I am literally like the only person who wants to practice having fun. Yesterday, I took a croissant baking class because I wanted to learn to laminate butter and dough. I went on my own and we worked in teams of 4 (there were three teams) and we managed these chocolate croissants. Not bad, right? We had to rush some of the rises and such things – it’s really suppose to take 2-3 days to make a croissant.

And a set of morning buns (though I’d call them cinnamon buns).

I enjoyed the class and the lamination isn’t that hard once you take the time and know the goals of not melting the butter. But I had had an argument with Jeremy early in the am (the first since going on the medication) so I wasn’t in the most pleasant mood during the class. The class itself was fine and enjoyable, and maybe on a different day, I would have enjoyed the company, but this time, it was a bit of a sugar slog of French baking small talk. Haha. But I brought all of my treats home and we had them over a pleasant dinner – trying to work through the argument we had in the morning over some chocolate. My mood is still much better than it was at the beginning of the year – though not quite back to my old self, but maybe we’d be good with some couples therapy. It’s a lot of stuff to get used to post pandemic – working together all the time, Vince off at school, Edda’s school ending, etc.

On Friday, I went mother of the bride dress shopping with Rachel which was impromptu and kind of fun. It’s a lavish wedding in three weeks, I thought the MOTB dress would have been procured a while ago, but it was not the case.

Otherwise a quiet-ish weekend. I worked a bunch, I feel like much of my life is taken up by administrative tasks and that I used to be efficient at them, but now I am not.

Elka enjoyed a pup pop.

I spent a couple of hours on Sunday doing a Pokemon walk with Sofie and taught her about gyms. It was a lovely day.