Friday, December 30, 2016

Becca's Schedule - December 2016

Becca's had a hard six months. Something happened over the summer that changed things in a way we haven't been able to figure out. She chokes and coughs more, and has a harder time getting clear. At first we thought she had a cold, but it wasn't like her other colds because she didn't get really bad and she could still interact with us (when she gets really bad her body is so worked up that she can't even seem to answer yes/no questions with her eyes successfully, she just breathes heavy junky breaths over and over until she gets better). We thought maybe it was allergies or something, but it didn't go away.

We've met with the pulmonologist, talked to GI and a couple other doctors but nobody had a good answer. We thought maybe it was due to her scoliosis but the ortho doc did X-rays and said it's not bad enough for that to be causing it yet. We had a percussion vest already because Becca was diagnosed with bronchiectasis (basically a widening of the airways that results in more mucous and easier infection) earlier in the year (she was sick and we were hoping to get a vest to help her out the person reading the x-rays may have known the answer we were looking for and helps us out a bit, we're not completely sure), so they told us to start doing that twice a day and also give her albuterol twice a day. We'd done some nebulizer stuff before, but that took about 5 minutes each time, so the inhaler route sounded a lot easier. I'll post more about that if I remember to.

Anyway, here's the schedule:

4-5am: Wake up. Paula gets up with Becca and does her inhaler and percussion vest for 12 minutes. Originally we were doing this at 7am, but it seemed to be making it even harder for her to not choke on her breakfast so we moved it earlier. Now she sits in her chair afterward and listens to music, listens to an audiobook, or watches her fish tank. If she gets really junky and coughs a lot we put her back in bed so she can clear up a bit.

7am: Siblings get up. They're allowed to get up at 7 and they go hang out in Becca's room until it's time to get up for breakfast.

7:30am: Brian gets up with Becca and gives her breakfast. We ask if she's feeling up to eating by mouth and if not we just do formula and medicine. If she's up to it she picks a flavor of yogurt and I scoop out like three or four spoonfuls into a bowl and mix in some finely-chopped oatmeal to make it a little thicker. On a good day she'll get six bites before she starts coughing too much. She chokes a little on about half the bites, but we try to let her decide when she's done. We have a fan next to her now because when she gets coughing on her bites she gets really sweaty.

8am: Medicine, formula (compensating for how much or little she eats) and miralax in water.

8:30am: School? About half the time Becca is up to going to school. The rest of the time she's got too junky a cough or is too worked up to ride safely on the bus. If that's the case we get her out and let her lay on her side to try to calm down or get more clear. Sometimes she feels up to letting Paula drive her to school, sometimes not. If she stays home she usually falls asleep and sleeps until around 11am.

School: School's about the same schedule. They make sure to get her in her stander. Interestingly enough, they say she's clearer in her stander than in her chair. I don't think a lot of academic work is happening right now, with how hard it is for her to communicate and everything else they have going on in their classroom. She's up and down at school. If she stays home, Paula tries to get her up in her chair when she wakes up and see how long she will tolerate it. Usually she'll stay up for three or four hours before she starts to get junky again. Sometimes it's more like an hour or two, just depends on how bad she is. Paula tries to do things with her, like read a book or sometimes get out of the house for a minute, or watch a show. She talks to her a lot while working around the house too.

4:30pm: Home from school if she took the bus. If she rode the bus in the morning she's usually good to ride it home too. Sometimes Paula gets a call asking to come get Becca if she's having a harder day. Becca's teacher is very patient and supportive, and tries to keep her there as much as she can because they have a good team and can work with her and keep an eye on her, but sometimes she just gets really worked up or her breathing gets too raspy. After a while we do a diaper change. When she changes positions she sometimes does this rhythmic muscular spasm for anywhere from 2 to 15 minutes. It takes away her focus and makes her sweat a lot and really wears her out. It's actually been around for a few years, it used to just show up when she'd get sick or sleep deprived, but it visits us a couple times a day lately.

5:30pm: We still try to do school time. Some days she can interact really well. It's a bit more one-way than is used to be, though, because her answers come in spurts. When she's anxious it's hard to get a response out of her, her eyes roll up and she can't seem to make eye contact. So we watch videos and talk about types of clouds and try to read a word or two. There were times when we could try to answer some harder questions or try to read tricky sentences if I mixed it in with easier fun stuff, but it's been hard to push lately, it's more been about maintaining and just talking about interesting topics. When she's really bad we're lucky to get one or two questions out of her and I'm not sure how much she's following, so we do art things. It's hard because it's clear she wants to engage, and when we work on bigger projects she's proud of them, and sometimes she'll seem so out of it but somebody will make a witty joke and she'll chuckle at it, so I know she's still there, but I don't know how much she can really take in.

6pm: Albuterol and compression vest treatment for 12 minutes. We sing songs and get the other kids to join in.

6:30pm: Dinner. We blend it up just like before. Some nights she says she doesn't feel safe eating (I originally wrote "doesn't want to eat" but that's not true and you have to be specific with how you ask her. She always wants to eat so if you ask if she wants to eat she'll say "yes/no". You have to ask if she feels safe eating. She's very literal, just like her father :-) ) so we just do formula. If she wants to eat she'll get a max of 10 bites in before the bad coughs show up, so we supplement with formula. She usually has to lie down again after dinner, even if she doesn't eat.

7:30pm: Get ready for bed. Melatonin, trileptal and more formula. In the past we've given her two 1mg dissolving melatonin pills by mouth, but when she's bad that causes some really bad coughs and chokes, so we crush them and do it through her feeding tube if we need to.

8pm: Bed. She usually does lots better once she's asleep. Some nights she sleeps on her side if she's had a rough day, it's easier for her to keep herself clear that way. Over the years she's gotten different night lights and stuffed animals from people, so she usually has a few good choices for how she wants to fall asleep :-).

Sunday, May 1, 2016

Becca's Schedule - May 2016

This is a catch-up because things have changed, but I wanted a placeholder for how things were recently.

4-5am: Wake up. Between 5 and 6 Paula gets up and talks to her. She helps Becca pick an outfit and decide if she wants to listen to music or an audiobook or just have quiet time.

7:30am: Brian gets up and gives Becca breakfast, usually yogurt or something hot blended up. Then trileptal, 2tsp of miralax and 3ish tubes of formula.

8:30am: Becca gets picked up for school on the bus.

School: I don't know for sure, but it seems like she gets off the bus, they do diaper changes, circle time, formula for lunch, some small group activities and individual time, with more changing mixed in. She always gets an hour in the stander as well.

4:20pm: Becca comes home on the bus. Paula gives her a formula snack.

5:30pm: School time. We take the Utah state standards for Becca's year and throw out things that don't apply (like keyboarding skills and cooperating in team projects), then focus on topics for a week. We mix in recurring things like math and reading comprehension. We do a couple different writing and art projects each year, then a lot of experiments, videos, and hands-on stuff. It's probably sort of like home-schooling if you only had half an hour each day, so not a lot of room for repetition and practice. Math is super slow and hard.

6:30pm: Dinner. We blend up her food and she eats enough to fill up until dinner.

7:30pm: Get ready for bed. Two melatonin pills, trileptal and four tubes of formula.

8pm: Bed.

Monday, June 9, 2014

Rett Syndrome vs. Hip Surgery

Becca had hip surgery in January. I've been stalling to write this post until I felt like the whole ordeal was over. I think it's finally fair to say we're done with hip surgery, so here goes :-). It looks like this is going to be long, and probably not useful unless you're getting ready to go through the same thing yourself, in which case maybe you'll be glad it's thorough.

First break from the pain in a few days
Over the Christmas holiday Becca started having seizures, a couple every day. We upped her dose of Trileptal and they started to go away, but then she was crying a ton and clearly in pain. We asked her where it was hurting and she said yes to her hips. Multiple times. We tried every position we could think of, and after hours and hours she finally got comfortable sitting reclined in her feeding chair and fell asleep for a bit. Poor girl :-(.

Becca's hips had been getting worse and worse over time, we already knew. Her condition was called "windswept" hips, which essentially means her comfortable resting position is with her hips shifted to the side. Since she doesn't stand or walk her hips didn't develop properly, in spite of a lot of attempts at therapy and "standing time". Her hips didn't develop the deepest sockets, and they were gradually tilting one direction. She always wanted to be turned that way, and it was getting worse and worse over time. Her left hip was coming out of socket every couple days and her hips would pop really loud when we lifted her sometimes or changed her diaper.

We'd met with the Dr. Stevens in ortho and he'd said surgery was inevitable, just a question of when. We'd been hoping to make it until summer (read: not the sick season) but that obviously wasn't going to happen anymore. So we met with Dr. Stevens again to schedule it out.

Doc's drawing of the planned surgery
He explained the surgery again to us, a double osteotomy and adductor release. And another thing he never gave a name to. Basically he planned to cut off a piece of each femur to straighten them out, and he wanted to use one of those pieces to jam ("wedge") into the pelvis on the worse side to create more of a socket. Then he also wanted to loosen or release one of her groin tendons to "keep it loose" in the hopes that it won't pull everything off-balance again in the future.

We'd seen some other families with a kid with Rett blog about their surgeries. One had these weird foam pads instead of a cast, we weren't sure if that would be a good idea or a bad idea for Becca. The nurses kept talking about having to rent a special car seat in order to transport her home. We actually ended up buying an accessible minivan which we'd been planning on doing anyway just not quite yet. That way she could ride home in her wheelchair which sounded a TON better than hoisting her into some weird carseat after bone-and-tendon-cutting surgery. We'd tried to the surgical team understand what a big deal the surgery was going to be for Becca but I don't think anyone really understood what we were saying. It's so easy for everyone to compartmentalize their work in a hospital -- the doctor just does his surgery, the anesthesiologist just does her drugs, the nurses just try to get you discharged, etc. Sometimes they seem to forget to think about what's best for the patient. We tried to tell a few people that we were pretty sure we were going to end up in PICU eventually, and after the last major surgery it kind of seemed like maybe we should just be starting there anyway, but nobody else was as concerned as us and this wasn't one we felt we needed to make a firm stand on, just a gut worry.

There wasn't a whole lot to do leading up to the surgery, except get our other kids taken care of and assume we were going to end up the PICU again for at least a few weeks. Surgery day came, we brought her in, got her all gownified and everything. I guess someone had written that it was only one hip because the nurses kept asking and getting confused, but the doc came and settled everything. He talked about the cast for a minute and said, "she'll like a pink cast I assume." Paula was quick enough to turn to Becca and ask if she wanted a pink cast. Becca said a definite no (as in, "oh my gosh no"), so she started through colors and purple was the winner. Then on to the waiting room. We talked to the anesthesiologist about the surgery and Becca's past surgeries, we told him she's slow coming out of anesthesia and before has had a trouble breathing again afterward, but he didn't seem concerned. A couple people told us he's the best anesthesiologist in the hospital, so that made us feel a little better. A little. When you seem some random doctor wheeling your six year-old down the hallway to get knocked out, sliced open, cut up and sewn back together, there's not really such a thing as feeling better.

On to the waiting room. At Primary's they're supposed to call every hour with updates during long surgeries but they're never that consistent, which is a good thing to know your first time, but we were used to that. We got a couple called during the five hours of surgery and recovery, but I don't think we were really expecting a crisis during surgery (those come later), so we were holding on to our tension regardless. It probably didn't help that the doctor came to speak to me after the surgery (Paula was in the bathroom so it was just me) and assured me the surgery went great and Becca was all wrapped up in her pink cast (pink?!). Though we did have a diverting adventure in our fellow waiting-room-ites. There was an older woman with two teenagers who were all dressed very... conservatively? Like, Amish-style clothes. We chatted with them a little but the younger girls wouldn't say anything and the older woman wasn't terribly friendly. Finally I asked where they were from and she said "Hildale" in an "obviously" sort of tone. When I said I had no idea where that was she got a little friendlier. I mean, they had a rural Utah accent, but they seemed nice enough. Anyway, when they left for a little bit I looked up Hildale, Utah on my phone.


That explained a lot. We chatted with them a bit more when they got back, the older woman didn't come back and the younger girls were much chattier without their chaperone. We had a good talk until I asked where their dad worked. They said, he's a missionary. Which piqued my interest so I asked more. They said they hadn't seem him in years. I said that must be hard and they flatly said it was worth it for the Lord's work. Anyway, they were interesting company.

Finally it was time for someone to go back and wait in recovery with Becca. I went back because I'd done it a couple times now and am probably a little more assertive than Paula if something needs to get done -- well, I guess that used to be true. Not sure if it still is, actually. Paula can be a tiger mom these days, it's pretty awesome. Anyway, I went back with Becca. I got to her bed and the nurse was on her computer looking at the Wikipedia page for Rett Syndrome :-). She asked me if Becca has seizures and I took the opportunity to catch her up on Becca specifically and Rett in general, making sure to cover the places where Becca differs from Wikipedia. Just a recovery nurse, but you never know when you're going to have an emergency, so I gave her the long story. We waited for a good hour for Becca to start to wake up (which is typical for her, a little long I think for the nurses), then the nurse called upstairs (downstairs? I can't remember) and recounted my history of the Becca to the floor nurse.

At this point Becca's in and out. She's got an epidural and blow-by oxygen, and she's obviously not enjoying life, but she's being a good sport I think. Also she's in a purple cast, not pink, which I quickly text to Paula who has been trying to figure out damage control for the last hour over that one. We wheel her to the elevator (elevators are super-freaky post-op. It's like the one place in the hospital where things can potentially go really bad really fast, so they pile on the battery-operated equipment for those trips) head to her room and then get transferred to another room before we can drop our stuff. This new room has, awesomely enough, a room adjacent where some nurse is putting on a spacesuit before entering. Seriously? Do they just clump all the high-maintenance cases into one corner or something? Paula and I both unconsciously held our breath every time we entered or left Becca's room.

Cool, so now we're admitted. Every time Becca wakes up she just says "no no no" over and over to anything we ask her. Obviously she's not happy on multiple levels. But she's not coughing and she's breathing really well so we're not complaining. The pain management team shows up to talk to us and make it pretty clear they want to do everything they can to get that epidural out as soon as possible. We're in no rush, thank you very much, but this group is probably the worst during our stay at thinking of Becca, and it becomes increasingly apparent that they want to get this child off their list much more than they want to correctly manage her pain. Maybe that's unfair, but that's how it felt.

Our friends from the Rainbow Group also stopped by. This is the group that shows up when your child only has a few days left to live (or when your child has a permanent major disability like Rett, though I'm sure you can imagine why we're not friends) to make things as not-miserable as can be hoped for. Usually we just blow them off but I mentioned that Becca likes music and they latched on to that and said they'd find the music therapist -- who unfortunately came when Becca was sleeping, but it was a nice gesture at least.

Doc stopped by to check on his work. He is so funny. He has a terrible bedside manner, but he seems very capable at what he does so we're ok with that. He kept commenting on just how great the surgery went. We asked if there was anything we needed to keep an eye on, any risks we should be aware of. He said "well no" as in "obviously not on one of *my* surgeries". It was funny. But like I said, I don't mind a cocky doc, as long as they're good. He also made sure to show us the "bump" he left in the body cast so we'd be able to reach down and access the feeding tube. More on that later.

Ok, more on that now. They assured us Becca would swell up from the surgery, in spite of all the ice packs and medicine. Sure enough, she did pretty quickly. And that cute little bump for the feeding tube soon wasn't even loose enough to stick a finger into. I managed to squish my hand in and push her stomach in hard enough to get a feeding tube clipped in but this obviously wasn't going to be a good solution. The next day one of doc's residents came and cut out a square using a small circular saw. There was a lot of blood under there from where the mick-key button had obviously been pressed hard against her stomach, but nothing permanently messed up at least. If I could give anyone advice going into a surgery like this, it would be to make sure they cut a space in the cast for the feeding tube. And it needs to be a big one, that tube will move two to three inches up and down during the recovery process. Not sure if this is common knowledge everywhere else, but we never got the memo.

After two days Becca was still in a lot of pain but the pain management team was determined to get the epidural out. We were headed out for lunch (grandma and grandpa were with Becca) when we happened to see them heading to the room. They said they were coming to pull out the epidural. Lunch was cancelled, obviously. We talked a long time to them about when was the best time to remove the epidural. They'd turned off flow to the epidural like an hour or two earlier, and we didn't think that was enough time to know how Becca would handle the pain. They assured us we'd have to take the epidural out the next day anyway. I asked how much of a difference another day would make and they admitted sometimes it could make a big difference, but they were still pressuring us a lot to take it out right then. We ended up giving in, unfortunately.

That night was terrible. Neither Paula nor I ever felt comfortable leaving at night, even though my parents lived fifteen minutes from the hospital and had an extra bed. Not after last time. So we'd been sharing one of those fold-out couches. It was probably comical for the nurses to watch us sleep, but whatever. Anyway, that night it didn't matter that we didn't have a bed, we were taking shifts staying up with Becca. Lots more coughing which was triggering lots of bad memories, but she was keeping her oxygen level up in spite of her crazy-high heart rate and obvious pain every time the nurses moved her.

The next day when it was clear Becca was still in a TON of pain we started trying new medicines. We'd told everyone that Becca has a high tolerance for pain, so the fact that she wasn't crying or screaming didn't mean she wasn't in a lot of pain. Conveniently enough the pain management team no longer felt the need to visit us or be involved, so the nurses were just trying stuff. We ended up on a narcotic (oxycodone) that she hadn't tried before so we didn't know if we should hate it or not :-). That night her breathing consistently got shallower and shallower, less and less frequent. It was a hard spot to be because at least she was sleeping, but when she got down to 10 breaths per minute then we were nervous. We could keep her oxygen saturation up with the breathing mask on her face, but yeah. The nurse was also very nervous, and finally called up the charge nurse.

We told them some drugs have built up in her system in the past, and they said that's common with narcotics in general (why aren't these things on her chart?). The charge nurse wasn't comfortable with the levels, so she wanted to give Becca something called a reversal. I guess it temporarily binds to the narcotic and immediately stops it doings its thing (like, immediately). So they gave that to her and sure enough, she woke up before they'd pulled out the syringe and started coughing and trying to throw up. Crying and yelling, in tons of pain. That was hard to watch, and not just for us. They called someone up from PICU to get some input, and they really wanted to give Becca a different narcotic since she was obviously in a lot of pain.

We butted in at this point and asked if since the reversal was only temporary, once it wore off wouldn't Becca go back into the sedative state, and maybe it would be a bad idea to give her yet another breathing suppressant. The PICU doctor agreed with us and told us we could either bring her to PICU or try to balance her pain (he wanted to make sure we knew there would definitely be pain, which was nice of him) and breathing with a lot of attention from the nurse. The nurse said she was up for it (she was one of our favorites), and we reminded everyone that we'd said multiple times that we didn't need Becca to be in *no* pain, we could work through some pain with her. I can understand why some parents can't handle their kids being in any pain, I really can, but we're kind of used to watching Becca struggle.

Once the oxycodone was on its way out of her system we started a low dose of Lortab, low enough that it shouldn't build up in her system. Also pretty funny how they kept checking Becca's heels to make sure they weren't developing any sores. Her bum wasn't terribly accessible, but man oh man were they diligent and checking those heels.

After another day Becca wasn't really doing better, but she did seem stable at least. Even the nurses wanted us out of there. They started talking about the medicines we'd be switching to when we got home... wait, what? We'd had enough happenings at this point that assertive parenting mode had definitely kicked in, and we told them we weren't leaving until we'd been 24 hours on the same medicine and doses she'd be getting at home. They weren't super happy about it, but they said ok.

Driving home, holy cow there are a lot of bumps on the road. Becca would cry out often on the drive home. We felt so bad.

Taking care of the cast was miserable. Get moleskin or duct tape around the the edges of the cast as quickly as possible, it all gets really messy and sweaty. We'd put a small diaper inside a large diaper, but that didn't catch everything. Also, being permanently in a semi-reclined position is better than being flat I suppose, but it still took lots of pillows and repositioning to keep her comfortable. What we wouldn't have given for an adjustable bed.

We were rotating between tylenol and ibuprofen and if we weren't faithfully on schedule then it was obvious, and Becca would start crying. Also, we were lucky enough to share a cough and stomach bug or something at our house after we got home, so then Becca had coughing fits to deal with as well. The silver lining was that we had to move Becca a lot more often for all the diaper changes, but it definitely wasn't fun. It takes Becca a long time to get over sicknesses in general, so with that on top of the surgery we definitely got to an exhausted emotional place. Lots of praying and hoping for things to get better while just trying to push through and make it through the day without crashing.

A few weeks later when they cut the cast off, we were so glad to be done with it. When they pulled it off Becca started crying her in-pain cry. We expected as much. The doctor assured us that she wasn't actually feeling any pain, she was just apprehensive because she didn't have the security of her cast anymore. We both looked at him like, "oh really". We know Becca's cries and that wasn't an apprehensive cry. Anyway, she calmed down once we'd had her in a sitting position for a few minutes. 

I'd love to say once the cast was off everything was roses. But she still couldn't lay flat without being in pain. She needed a pillow under her knees for weeks afterward. We still prop her up under her legs at bedtime because it seems a little more comfortable. And it took a few weeks before we could get her in her stander higher than a thirty degree incline, but we eventually got there.

Now we seem about as good as we're going to get. She still gets stiff sometimes, and her hip pops every once in a while (not as loud as it used to), but she's way more balanced between sides, and she does great in both her chair on lying down. All in all I'd say the surgery was a success, in spite of how miserable it was. As long as we don't have to do it again any time soon :-).

Tuesday, December 17, 2013

Believing in Girls with Rett Syndrome

When we first got a diagnosis of Rett Syndrome for Becca we did a lot of Internet searches trying to figure out what we were up against. Paula found a blog called Spirit Dances about a woman with Rett Syndrome named Karly. The blog is authored by Karly as her mother held her hand and helped her type on a keyboard. The posts are complete sentences, complete paragraphs, with a very large and diverse vocabulary.

When I saw the blog I discounted it right away. I'd read about how debilitating Rett Syndrome is, and there was no way this disabled person was writing all that. Maybe she was picking the first letter and her and her mom was filling in the rest -- maybe not even intentionally or anything, but there's lots of research examples of facilitators who in trying to help end up saying things from their own head rather than the individual's. I didn't say any of this in a comment on the blog or anything, I kept it to myself, but I definitely thought it.

I didn't know Karly (she has since passed away) so I'm really in no place to make a judgment call either way, but I've since learned why my attitude is wrong-headed -- mostly by being on the receiving end of some healthy skepticism about Becca's abilities.

Becca is reading words. She only knows 14 letters, but that's enough that she's independently read the words "bat", "bag", "fat", "leg" and "hen". Last week we were trying to come up with Christmas words for all of the letters she knows, and she thought all on her own of "elf" for "e". The next day she asked me how to spell "lion". She out of nowhere last month told us that she hates her car seat, and she told me a few weeks ago that I make her shower water too hot, then helped me find a better temperature. She can count to five and she has just started saying her own prayers at night when she goes to bed.
Hunting for a Christmas tree we all could agree on

If you've seen Becca in real life then those events will probably sound next to impossible. Becca can't talk or sit up or walk, she shakes constantly, she struggles to move her arms intentionally anywhere other than to her mouth and struggles to keep eye contact focused on much of anything. Most people would look at someone in her condition and declare those skills as far out of reach. And if we told you how we know she can do all of those things (because she told us she can) then you'd probably put us squarely in the same bucket I put Karly and her parents in before. I can't really judge you for thinking that way since I sometimes still do myself, but I can try to help you see why you (and I) should rethink assumptions.

I'm going to introduce two probably-new-to-you concepts. The first is called "the least dangerous assumption" and the second is called "presumed competence". They both have to do with the benefit of the doubt, and hopefully will help you see why it's so important for individuals with disabilities.

The least dangerous assumption is a perspective re-think. It's essentially the request to take your assumptions about a person's capabilities and think beyond to the end result of those assumptions. Let's say for example that twenty years from now someone comes up with a drug that completely cures all symptoms of Rett Syndrome. Which would be worse, hearing Becca say "I laid on the floor for twenty years watching baby cartoons. I tried to learn to read but nobody would hold the books still enough" or hearing her say "I know you tried to help me, and I did get a little out of it, but most of the time it was too hard to focus and I didn't learn much"? Henry Frost is a young man with autism who fought this battle, using typing to convince the school that he was capable of learning. The least dangerous assumption is the assumption about an individual's abilities that will cause the least amount of damage if in the end you find out you were wrong.

Presumed competence is related. It's the idea that an individual shouldn't need to earn the right to be taught, respected or spoken to. You should assume that an individual understands what you're teaching them or saying to them or about them, whether they can respond or not. Don't skip explaining things to Becca just because she looks like she's not listening. Don't skip her in activity time with the kids because she's disabled. When Becca responds with what seems like only half or a quarter of what you were told is her typical response, you should take it and believe that it was intentional. Take it the rest of the way. Call it a victory, rather than thinking "that could have been an accident". Presume competence. Don't ask her to prove to you that she has a brain in her head, that's not how you treat "normal" people. If a "normal" kid says "appow" instead of "apple" you don't say "well *that* kid can't talk." I won't lie to you, presuming competence takes a lot more work than you probably think. It involves getting over your own insecurities in addition to the child's, and re-assessing yourself again and again.

Honestly presuming competence has made all the difference in the world with Becca. Once we started introducing concepts and ideas to Becca that were beyond where everyone (including us) assumed she was, she took off. Her yes/no eye gaze didn't get really solid until she started picking from six choices of places to go (backyard, front yard, downstairs, etc.) -- and I'm betting that at least the first few times she didn't completely understand what she was picking. But we took it and ran with it and then went a few steps farther. We didn't know for sure if she'd keep up but she has, again and again. I love the phrase I found a few weeks ago, "we teach intentionality by assuming intentionality." Just as often we we find we're not teaching intentionality so much as finally trusting her enough that she feels she can rely on us for communication. Whenever we feel like she's getting stuck it's usually not because of her understanding, it's because we got sucked back into "you need to prove you know this before we move on" again, and once we fix our side she picks right back up. Will that last forever? We have no idea. But we've heard too many horror stories of girls with Rett in high school who are still working on identifying colors, and we just have to think there's something more stimulating for them than that.

Check me out, I can rock the wink like no other.
Becca's mutation (K135E) is not a common Rett mutation, so I don't know that we can really speak for a majority of girls with Rett Syndrome, but from those we've seen Becca is not on the "light" end of the Rett spectrum, and she is still so very much "in there". We have to believe that most girls with Rett are as much "in there" as Becca. I still wonder about Karly's typing skills (my bad, I know. Why do I worry so much about being "taken in" by an online exaggeration?), but I now believe she was capable of writing a blog, that she could read and understand and benefited from her method of communication. I think it's crucial that we surround our girls with people who believe in them, because I've seen how much of a difference it can make.

If you don't believe Becca can do the things we claim she can do, we understand exactly where you're coming from but please give our daughter the benefit of the doubt. If you want a girl with Rett Syndrome to see you as part of her life then get excited for her, believe that she did it even when there's not the evidence most people would expect. Someday in the future you will see how she has changed you as much as you have changed her, and that making the least dangerous assumption has brought you into a circle of trust that will change your life in significant ways -- regardless of whether anyone else in the world believes you or not.

Monday, November 25, 2013

Rett Syndrome, Long-Term Memory and Neuren Pharmaceuticals' NNZ-2566

Over the last couple months I keep getting sucked back into the question of how Rett affects long-term memory. First I saw this write-up talking about how adult women with Rett seem to have better memory for events and objects from their early childhood. Then a few weeks later I was looking up long-term memory for an unrelated project and came across mentions of our good friend BDNF. I dug in a little then, but it's coming up again now as I'm working with Becca on learning her letters, and I wanted to better understand her learning process.

So! Here's the somewhat limited (but still long) results of my foray into the relationship between Rett Syndrome and long-term memory.

Quick refresher from my previous post on BDNF, brain-derived neurotrophic factor is a protein and gene that have various effects, mostly on the brain. I believe it is also the first identified protein that is "downstream" of MECP2 (Rett). When you compensate for a BDNF deficiency in a mouse with Rett, their heart begins to function properly, their energy and strength improve -- many of the main symptoms of Rett are lessened significantly.

Then what about BDNF and long-term memory? Long-term memory is (I believe) defined as anything that's remembered for more than around eight hours. That includes childhood memories, lessons from school last year, and what you learned yesterday in class. The process of long-term-memorization seems to be getting something into short-term memory, then transitioning it to long-term memory and strengthening its placement in long-term memory over time. BDNF does a lot for the brain and is deficient in Rett Syndrome, so that's a great starting point for research.

 The first article I found was a winner, "BDNF is essential to promote persistence of long-term memory storage". The study shows two things, 1: BDNF is necessary for long-term memory persistence as part of a process that happens at some point after the original learning experience, and 2: even when other components of the long-term persistence process are missing ("hippocampal protein synthesis" is apparently the other part of the process), BDNF alone is enough to persist the long-term memory -- "in an ERK-dependent manner".

Cue the vocab lesson :-). Gathering these terms was no small feat, the neuroscientists of the world do not like to share their language with us peons.

Protein synthesis - the creation of proteins by cells. Hippocampal protein synthesis is the creation of proteins by brain cells, and is necessary for the brain to create connections. Apparently even if you suppress protein synthesis in the brain, a sufficient supply of BDNF is enough to allow for long-term memory. BDNF pretty much rocks.

Kinase - a kinase is an enzyme that allows for energy transfer. If I understand this correctly, a kinase is essentially a pathway through which actions can occur.

ERK - extra signal-related kinase. This is a specific kinase that is "activated" or used by, among other things, BDNF and growth factors (IGF-1, anyone?). This study was focused on spine growth, but showed that BDNF most definitely leverages the ERK "path" for its purposes.

CREB - CREB is a transcription factor (a protein) that helps regulate the transcription of certain DNA pieces. In other words, when a cell uses its DNA to send a message via RNA to create certain proteins,  needs transcription factors like CREB in order to send the correct message and have the protein created correctly. CREB regulates the transcription of a number of genes including BDNF.

Thanks for sticking with me, here's a picture.
CREB != crab.

PKMζ - PKMζ is another kinase. It appears that this kinase is necessary for the maintenance of long-term memory. Without it existing long-term memories seem to break down.

Akt/mTOR - Akt and mTOR are two kinases that I see lumped together a lot in the papers I'm looking at. The Neuren study implies they are a joint pathway that is inhibited by Rett Syndrome (more on that in a minute). 

IL-6 - this is a protein that is somewhat similar to BDNF and IGF-1. It does a bunch of cool stuff. I honestly haven't dug into it much, but the Neuren study suggests that their new drug may help via the IL-6 route in addition to the IGF-1 route. The only other paper I could find mentioning Rett and IL-6 wasn't directly related (but is wicked interesting and I'm going to dig into it later for sure).

Sorry, that was rough, but hopefully it'll help if you decide to dig in to any of the linked papers. I can proudly say I understand at least 30% of the Neuren presentation now :-). Anyway, back to our research. 

BDNF can facilitate long-term memory via ERK. In fact, another study said BDNF is a requirement for ERK activation (and also that CREB is necessary for correct ERK activation). There also appears to be a time element involved. In yet another study Alonso and company found that injecting rats with BDNF blockers prevented learned fear reactions -- but only some of the time. When BDNF was blocked 15 minutes before, or 1 or 4 hours after the training then the rats didn't developer the learned reaction, but when blocked at training time or 6 hours after, it had no effect. There were a few other studies that talked about time-critical moments in the long-term memory process. If there were a way to temporarily increase BDNF it seems like it could be done at a strategic time in order to improve retention when teaching new topics.

So is there anything to be done? Not sure. The whole "BDNF is necessary and also sufficient" thing is kind of a downer. I found some articles on how dopamine (2) and PKMζ increases can enhance long-term memory, but if BDNF is a must-have then I don't see how useful that is for Becca. Maybe it would help some even if it doesn't remove the main barrier, I don't know. I did also find some articles on memory strategies, the most promising of which is to try to encourage connections between existing long-term memories when introducing a new idea ("B" is for "bus", you ride the school bus every day to school), which can essentially make it more likely the idea will be pulled along into long-term memory (though somewhat paradoxically, novelty encourages attentiveness which improves retention as well). I'm trying to offer more variety while I teach Becca, pulling in both familiar and novel concepts, to hopefully do what I can to help her with retention.

Obviously long-term memory isn't completely nonexistent since Becca recognizes people from the past, she remembers things she doesn't like (her car seat) and things she does like (Wall-E, chocolate). She seems to recognize places she's been before. But when I work with her on school topics, it feels like she has a harder time making things stick between sessions. That's what this study says, too, that LTP exists in a weakened way in individuals with Rett Syndrome.

Oh right, LTP is another vocab word. Long-term potentiation is the biological process that most likely equates to long-term memory. They strongly correlate, anyway. As I look at my old notes, I remembered there were Rett studies mentioning plasticity, so I did a quick check on the relationship between plasticity and LTP. Apparently LTP is one type of plasticity, so if your plasticity is messed up then your long-term memory is probably messed up too. Like with Rett Syndrome.

Ok, so we're basically hosed when it comes to long-term memory, we do what we can but it's a very uphill battle. Lots of studies showing poor plasticity caused by Rett Syndrome. But remember, the IGF-1-as-a-replacement-for-low-BDNF studies on mice with Rett showed significantly improved plasticity (which should also mean improved long-term memory).

In fact, that's one of the main areas of study for Neuren Pharmaceutical's research drug, NNZ-2566. NNZ-2566, they claim, is an "analogue" of IGF-1 that can be taken orally but can still cross the blood-brain barrier, which is what needs to happen if it's going to have a positive impact on brain function.

Neuren has performed studies on mice where they "knocked out" or disabled FMR1, which is the equivalent of giving someone Fragile X. Fragile X is obviously not the same thing as Rett Syndrome (they may even be on opposite ends of the spectrum), but there are both genetic disorders with neurologic impact and do have some similar characteristics. Not sure I'm reading things right, but it seems like Fragile X *might* have the same problem of too little BDNF in the brain... The relationship between Fragile X and BDNF (search results) doesn't seem as cut-and-dry to me as with Rett, but I'm having a harder time understanding those results so don't read too much into that.

As far as the Neuren study goes, the Fragile X mice showed poor long- and short-term memory in different mazes when compared to wild-type mice. When placed in a simple maze 10 minutes and 24 hours after an initial exposure, the Fragile X mice were exploring the maze anew while the wild-type mice more quickly re-settled into their environment. In a different maze with essentially tall cliffs, the wild-type mice spent significantly less time on the anxiety-inducing cliffs than did the Fragile X mice. When given NNZ-2566 the Fragile X mice performed basically the same as the wild-type mice in both mazes.

Only one of these things has a head
full of fluff.  Also, stripes are cuter
than polka-dots.
So that's potentially very promising. It says to me that NNZ-2566 as an IGF-1 alternative may be a sufficient supplement for a BDNF deficiency as far as memory is concerned. We know from the other study I linked to before that IGF-1 positively affects brain weight and plasticity of Rett mice, so maybe that's enough of a correlation to be hopeful for Rett in addition to Fragile X. 

At any rate Neuren is working on Phase II of a clinical trial for NNZ-2566 as a treatment for Rett Syndrome. They are looking for adolescent and adult subjects (if I remember correctly, they're targeting older subjects because IGF-1 is a *growth* hormone and they don't want any confounding factors from younger subjects who are still growing), though if the drug is effective they will obviously work for approval for younger cases as well. They claim that in pre-clinical models of TBI, Fragile X and Rett there was a "normalization of Akt and ERK activation profiles" (you know what that means now, sort of!). Hopefully the clinical trials will back up their previous research.

What do the rest of us do in the mean time? Be patient is all I can suggest :-). It's been a tricky balance as I've been working with Becca on "school time" because she seems to remember enough to get annoyed if I'm too repetitive or spend too many days on the same subject, but it's also clear there are holes in her understanding that I need to fill before I can go too much farther. It does help to know there's the potential for learning, and that I'm not crazy in thinking she's getting it albeit sometimes at a slower pace. Even with all of her constraints she still surprises us quite often with what she knows or remembers, we just have to believe in her and keep remembering to ask.

Wednesday, November 20, 2013

School Time Update (Becca read a word!) - 11/20

Whew, it's been another month already. Lots of after-school adventures to recap. I was out a couple weeks for some work trips and things so it wasn't quite every day.

We've mostly been working on letters for the last month. Some of the non-letters work we've done was on matching baby animals to grown-up animals. Becca thought that was fun. ...actually that's the only non-letters thing I can remember doing. I need to be better about getting more non-letters things mixed in, it's just that letters is taking a lot of time and review.

Basically we introduce a new letter every couple days. I hold up a uppercase and lowercase version of the letter and we talk about it, draw the shapes, make the letter sound, and think of words that start with that sound. I always have at least one picture that starts with the letter, where it's the picture and also the word typed out with the first letter highlighted. We're trying to work on reading with her inner voice, so I prompt Becca a lot to say the letters in her head or make the sounds in her head.

When we review old letters she seems to do a pretty good job of saying whether she recognizes the letters. That is, she says she knows B and A and their sounds really well, but she struggles remembering D, and the fact that C makes a "kuh" sound is hard for her to remember too. The newer letters are still pretty hard to recognize. We've played a sound matching game a couple times, where we stick pictures on her board and then I ask her to find the picture that starts with the letter I hold up. A couple times on B and S she's done it without any additional prompting, but usually she needs to hear the sound the letter makes, and then she can find a picture that starts with the sound.

She pretty consistently (eighty percent? I haven't been counting) can find a correct picture (sometimes there would be more than one) by looking at the picture and then back at me. She does tend to look around at all the pictures, and sometimes she gets caught on one even if it's not the right sound, but with some additional prompting she'll usually keep looking. When she wouldn't engage well I would then scan through the pictures with her, saying the picture out loud and then asking if it had the right sound. There were only a few times we had to get to that point, but then we ended up at the right answer. Probably twice she selected the wrong picture before scanning, and she either changed her mind when I tried to confirm, or when she confirmed the wrong pictured and I said that didn't match she laughed. I'm pretty sure at this point she likes to tease.

We've also been starting to spell out words. I cut out each of our letters we've been working on with a thick edge at the bottom so I can hold the letters together more easily. Then I hold them up for Becca and we try to figure out the word. First we go through each letter and say what the letter is and what sound it makes. Then we make each sound one by one, faster and faster until we get the word. It's really cute to see her "get" the words, it's a very clear reaction where her eyes get a little wider and she looks up at me (when she's well-engaged). Sometimes it's not until I've fully combined the letters, but sometimes it's sooner than that. Once we figure out the word we celebrate.

A couple times when she reacted before the word was fully combined I'd ask if she thought she knew the word already. If she said yes then I'd say let's try and find the picture. I'd hold up different pictures and ask if they matched the word. The three times we did this she correctly picked the right picture.

One time was particularly awesome, I held up b-a-t and she reacted before I'd pointed out any of the letters or anything. I asked if she thought she knew the word and she said yes. I held up a cat and asked if that was the word, and she didn't say yes. Then I held up a sun and again she didn't say yes. I held up a picture of a bat and asked and she said yes. We celebrated a lot on that one :-). Becca read a word!

So far we've worked on the following letters: B, A, S, T, C, D, E, N, U and G.

Thursday, October 24, 2013

School Time Update - 10/24

I think you all get the idea now on what we're doing with Becca, and I have the evidence I wanted in case I need it for school, so I'll chill out again now. Over the past two weeks we've done a bunch of different things with Becca. We worked on matching animal babies with their parents, picking items from a list, some more letter work, and pushing vs. pulling. Each time she answered our questions correctly at least 75% of the time.

A highlight for me was when we put 12 pictures on a board and had Becca select pictures from the grid using partner-assisted scanning. Paula worked with her on it first, just asking simple questions and finding Becca's answer. It was more freeform than we've been able to be with her before because there were so many different choices (some food, some equipment, some TV shows, some locations). The second day was right after a trip to grandma's with lots of driving.

I asked Becca to tell me what she wanted to talk about. She picked her carseat. I asked if she liked her carseat. Immediate no. I asked if she wanted a different carseat. Immediate no. I asked if she wanted something else instead of a carseat, I joked about putting a bed in the car. Immediate yes. She looked at me like, "that's an option?!" I think she has so much she's going to start saying as soon as she has a better opportunity to.

On the letters I noticed Becca has a hard time engaging for a long time, probably because it feels so repetitive. I ask her a lot to say words or sounds in her head (a la the nonverbal reading approach) and it's not exactly fast-paced. I try to explain to her why we're working on it, and that does help some. Also I've noticed when I get Becca's sister involved and have her practice, Becca does better as well. For example, we worked on matching pictures to the words describing those pictures (candy vs. sit vs. books, working on starting sounds). Becca made it through and matched each picture to the word based on the starting sounds with only one mistake that she corrected on her own, but the last one was hard, we had to play a hand game first to help her re-engage. Then when I asked Becca's sister to go through the same matching exercise I noticed Becca would look very attentively at the right answers, even though it wasn't her turn. I need to remember this trick. I know I wouldn't like being put on the spot all the time, in school I definitely preferred answering on my own with some other kid in the hot seat.

Anyway, lots more to learn, but that's the latest update.