Becca The Blog

Competing with the Pink Ribbon

2011-11-06T21:35:00.000-08:00

Most people don't know this, but Breast Cancer Awareness Month coincides with Rett Syndrome Awareness Month. I don't know who thought going up against breast cancer in October was a good idea, but I guess you probably wouldn't see very many purple ribbons regardless of the month IRSF chose. It's just not that well-known.

Quick recap: Rett Syndrome is a neurodevelopmental disorder caused by a genetic mutation resulting in a malformed protein. There are I think around 20 different known mutations all resulting in the same malformed MECP2 protein and gene. The mutation occurs on the X chromosome, so males do not typically survive since they don't have any properly functioning X chromosomes if they have a mutation. The severity of the disorder is dependent on the percentage of well-formed X chromosomes, which apparently is not always 50% like I would have assumed. Rett is an autism-spectrum disorder, but the symptoms are more commonly compared to cerebral palsy. Rett girls typically do not talk and only half are able to walk. The life expectancy is stated to be around forty, but most deaths I hear about are for girls in their twenties. One in twelve thousand girls are born with Rett.

Our little girl Rebecca has Rett Syndrome. She was diagnosed in August of 2009. The geneticist, Dr. Rope, walked me through the biological details of her specific case, and also Rett in general. He then said, "I can tell you all about the biological effects, but I've never had to take one of these girls home with me." I didn't realize at the time how apt his comment really was.

We've tried some to interact with other Rett families. We subscribe to some blogs (thank you everyone for sharing your experiences), we've been to a couple events (these are kind of depressing to me, I already have one Rett girl I don't need to see twenty more), there's even a mailing list. But when it comes down to it, raising a girl with Rett is I think a lot like raising any other kid: you just have to figure it out as you go. It's been great to get some advice for what to expect and how to make life a little easier, and Becca's doctors have been super helpful in knowing what to worry and not worry about, what equipment we might need, etc.

But Becca is undoubtedly her own person. She gets annoyed if you touch her face. She thinks it's funny when her siblings cry. She doesn't appreciate it if we leave her inside by herself. She's not a big fan of mashed potatoes, but she loves cole slaw. She needs some time and space when she first wakes up or she'll be super grumpy. She loves to wear cute outfits and likes to play the piano. We recently discovered that she thinks The Nightmare Before Christmas is hilarious. She doesn't get as many opportunities to express herself, or to make decisions for herself, but it's very clear to us that she has opinions on things and that she is fiercely devoted to her family.

We are so grateful for our little Becca. I know some people think we're crazy for having more kids after giving birth to a disabled child, but I don't think there will be much that's more valuable to our other children than having the experience of growing up with their sister in our home. It makes us all think a lot more about what it really means to live a "full" life, and what God intends for each of His children when we can't even be sure some of them will ever be able to walk or talk.

At least, not in this life.

Tonsils, Adenoids, and a Code Blue

2011-09-04T21:52:00.000-07:00

This is kind of a delayed update, but it's been hard for me to write about it, and I wanted to wait a while before writing so I could look at it a little more objectively.

About 5 months ago Becca's geneticist Dr. Rope recommended we do a sleep study for Becca. She gets pretty tired during the day, and most days she wakes up between 4 and 6am, so there's definitely room for improvement in her sleep routine. We scheduled the sleep study (that's probably worthy of its own post. We'll never do another sleep study anywhere other than at Primary's. The sleep tech was pretty sure he wouldn't need to wrap the EEG nodes, but Becca went at them most of the night, and fought the nasal cannula as well... it was a blast...) and the big takeaways were that her oxygen levels are a bit low when she sleeps and that her brainwaves are all over the place (no surprise there, pretty typical for Rett girls). We decided to give her blow-by oxygen at the night, and see a ENT about possibly getting her tonsils removed.

The ENT, Dr. Grimmer, thought it might be helpful to remove Becca's tonsils and adenoids. Her tonsils were enlarged, and while it wasn't a major concern, it might help her breathe a little more easily. Becca does cough sometimes in the night, and it gets pretty bad when she's sick, so it seems like it'll be a good thing in the long run.

But first we had to make it through the surgery. June 6th we went in to Primary Children's Hospital for her T&A. We were really nervous before we went in because Becca had coughed a couple times that morning and had a low-grade fever, but she does just cough randomly sometimes, and the hospital told us to go ahead, so we brought her in for the surgery. We won't ever take that kind of risk again.

After the surgery they took Becca to the floor for recovery (it was technically an outpatient surgery, but they wanted to keep her overnight to make sure everything was all right). I wasn't there, but right away Paula knew something was wrong. Becca wasn't breathing well and was obviously pretty miserable whenever she woke up from getting her tonsils and adenoids removed.

After a couple hours she had what Paula thought might have been a seizure. For the previous few weeks sometimes Becca's arms and legs had started twitching rhythmically for a few minutes at a time. She was very in there when it would happen, but we weren't sure if they were seizures or not. Paula took the opportunity to ask the staff if our neurologist could come see what was going on and confirm whether or not it was seizure activity. Dr. Benedict wasn't available, but another neurologist named Dr. Lloyd checked in and called it a seizure (incidentally, after some follow-up EEGs we now know they weren't seizures, and it sounds like this kind of thing may be common for Rett girls, there just wasn't anybody around with any experience in Rett cases). They gave her a huge dose of versed (or ativan, I can't remember which) and the twitching stopped but she got all messed up. Her eyes weren't lined up anymore and she would either sleep or stare off at nothing -- and she still was not breathing well.

The breathing was the biggest concern for us. Becca's always had a hard time with breathing, and when she gets sick at all or coughs a lot she stops swallowing and stuff builds up in the back of her throat and exacerbates the problem. She had blow-by oxygen but her breaths were just really short and quick, and her oxygen saturation levels were all over the place (anywhere from 80% to 50%). We asked a couple times about it, but none of the nurses were concerned with the situation and said it wasn't a big deal after a throat surgery, so we assumed it was fine. They gave us a suction tool to help clear her out, but told us we shouldn't suction much or it would make things worse -- even though it was pretty clear she was collecting a lot of gunk back there.

This, by the way, was pretty much the end of our implicit trust in nursing staff. We assume now that nurses won't know the right things to do for Becca, and then they can sometimes pleasantly prove us wrong and earn our trust. If we'd known then what we know now we probably wouldn't have ended up in the PICU. Hm... Actually, I guess if we'd known then what we know now we might have pushed them to take Becca directly to the PICU for recovery instead of just going to the floor. We're a lot more confident now than we used to be that we know what's best for Becca, so I guess at least there's that. It seems like maybe that's something a Rett parent just needs to learn eventually.

Anyway. I sent Paula home to get some sleep (she was 5 months pregnant, and Becca wasn't coughing quite as much anymore) and settled in for the night. At about 10:30pm Becca's breathing got a lot worse. She started coughing pretty bad, and then she started coughing worse (this is when the nurse came in), and then she stopped inhaling, and then her coughs got really weak, almost non-existant. Her oxygen saturation dropped to 20% and the nurse hit the emergency button. The PICU staff got there within 30 seconds and right away started working on opening Becca's airways. Becca's lips were blue and her skin had lost its color almost completely. She looked dead other than the faint spasms in her chest. Her oxygen got down to 12% before starting to slowly climb up again. About half an hour later the respiratory technician finally had her up to 85% oxygen, and we decided that was enough to move her down to the PICU.

As you can imagine, I was pretty much a wreck at this point. I actually think I did really well until somebody said something about "life support" and for some reason that was the thing that threw me. I managed to get a call out to Paula and speak enough that she knew to get there right away. They wheeled Becca down to the PICU and got her all checked in. She couldn't breathe at all on her own, but at least she was stable. We found out later one of her lungs had completely collapsed, and the other was significantly obstructed. The event was classified as "acute respiratory arrest".

I think this is enough for one post. Maybe I'll do the PICU experience in another post.

The Life That Might Have Been

2010-12-28T14:57:00.001-08:00

I often wonder if I will ever stop thinking about what Becca’s life would be like if she didn’t have Rett Syndrome. Sometimes I look in her eyes and see so much personality locked up in her little body and it truly breaks my heart. I know she has a wonderful sense of humor just like her Dad. And I know she’s smart, just like her dad. She seems to understand more about life than any of us do.

Anyway, I was looking through old pictures and videos earlier today and was, once again, surprised at how Becca has changed through time. It’s always a bittersweet experience for me. I’m not sure why I do this when I just end up crying…I guess I can’t explain it, it’s just something I like to do. Though I had that familiar ache in my heart and a lump in my throat as I looked through our many pictures, I came to a realization. When Becca was little I was always waiting. Waiting for her to master the next skill, waiting for her to get stronger muscles, waiting for her to catch up to other kids, and waiting to figure out what was wrong. I was always wishing time would fly by so things would get better (if that makes any sense). I didn’t stop to enjoy what a sweet baby she was. I wish I could go back and do it over. If only I knew that she had mastered skills that she would later lose.

But I also came to the realization that I don’t do that anymore. With Becca’s diagnosis came sadness but a whole lot of peace. I just enjoy her now. I’m not wishing time away now that I know. And I try to focus on reality rather than the life the she might have had. I am just so grateful for her and that she chose to come to earth even though she knew it would be hard. I’m so grateful that she came to our family because we truly do need each other. I am so grateful for the sweet spirit she brings into our family for all she has taught us and will continue to teach us in the years to come. I think I might always feel inadequate when it comes to raising her, but I know I will be given the strength necessary to do so. Becca was blessed with a Daddy that understand her better than any other person. He knows how to cheer her up or provide for her at times when I don’t. God definitely knew what He was doing when He sent sweet Becca to us.

Wow, I came to update on Becca’s life and then out came all of that. I guess I don’t feel like I have too much to report. Becca has been sick a lot this winter already. Each time she’s sick I find myself wishing that she could tell me what’s bothering her. It’s sure hard to take care of a sick kid that can’t communicate. But she’s been blessed to overcome the bugs that came her way. She thinks the holidays are exhausting…

But she has also had a lot of joy this holiday season

New House and Preschool

2010-10-19T14:24:00.001-07:00

With moving to a new house I was worried that it would take Becca a while to adjust, but she has done great! The whole time we were looking for a house we kept telling Becca we were looking for a house for her. She seemed to say, we finally moved to my house! She has a bigger living room to roll around in and her very own bedroom.

Becca started preschool last month and it has been an adjustment for all of us. We went in the week before she started and met her teacher. We absolutely love her. She is so good with Becca. I was excited to hear that she had a girl with rett in the past. It has sure been nice that I haven’t had to explain all about Rett. She seems to understand Becca and her needs. We’ve started with her going Mon/Wed from 9-11 and we’ll see how she does with that.
So this year we decided to send Becca on the bus. She went on a field trip last year and they took them on the bus. I was told she smiled and giggled the whole way. So, I thought this would be something she would enjoy and would give her a little more independence and lengthen her preschool time a little bit. Anyway, the first day came and I hadn’t heard anything from the bus. So I assumed they hadn’t got Becca’s information yet but I was totally h
appy to take her. As I went out to pack up the bus pulled up. I was like…oh ok so I pull her wheelchair out and assemble it (I’m getting faster at this but I’m still sort of slow). Then I ran in and got Becca, brought her out and strapped her in. I totally expected the bus driver to introduce himself and ask about Becca. But no…he actually didn’t really say anything. He quickly strapped her in while I’m chattering away about how I didn’t know if the bus was coming and about Becca. Nothing…and then he drove off. With my precious child. And then I cried. Like a lot. I had just sent my sweet daughter who has special needs with a stranger who didn’t seem to even look at her. I had no idea if Becca was scared. I hoped he took her to the right school! I truly felt like a horrible mom. My sister was in town so I could thankfu
lly leave Katie with her. I waited a little while to give Becca time to get to school and get settled and then I drove to the school to check on her. It turned out that it was good I went. Her teacher had a few questions about her wheelchair and it was good for me to be able to see Becca happy and in one piece. I also found out that the strange bus driver was actually a sub. Whew. Here’s Becca on her first day of school with her backpack that is actually my old backpack. How embarrassing! Sorry Becca :).

The second day of school Becca came off the bus crying :(. I said, oh no! She’s crying! And the bus driver told me that she actually cried the whole way there and the whole way back. Well that broke my heart. I called her teacher right away and asked her how she was coming off the bus. Again, it was good I called because her teacher said she was really upset coming off the bus and it seemed like she was aspirating. Great. She had a swallow study done last year that she passed, but I know that she is at a high risk for this. When Becca gets sad and worked up, thick mucus builds up in the back of her throat. She feels like she is suffocating because she has a hard time swallowing. Pretty scary. Anyway, this whole bus thing wasn’t ok with me if it was upsetting her. So her teacher and I came to an agreement that I would bring her to school and then she would come home on the bus. I felt so good about that because then she would still get a chance to get used to the bus. The first day of this was wonderful. I hear she was happy at school and she came off the bus happy. Apparently she has a new boyfriend on the bus too.
Becca has been in a good place lately. Though we haven’t seen any fine or gross motor improvements she has been really happy. She seems to be trying to communicate through her eyes more which has been really wonderful too. She’s finally over her cold (we all passed a cold around a couple weeks ago and like always hers lasted like two weeks longer than ours because she can’t get rid of congestions)! For the most part she has been sleeping well (last night she was awake until like 11 just chatting away, but she doesn’t usually do that). She hasn’t had any seizure activity that we’ve seen lately as well. All wonderful things!

That’s Better

2010-05-27T09:43:00.001-07:00

I just wanted to quickly mention that Becca has been doing a lot better the past couple days. I’m not sure what was bugging her, but she seems a lot more content and happy. Also, no seizures yesterday or today so far. Things can sure go up and down quickly. But I’m grateful to, once again, have a happy Becca.

An Off Week

2010-05-25T20:53:00.001-07:00

Becca is having a bit of an off week. Brian and I had just mentioned last week that Becca has been in a really good place lately. She’s been so content. By content I mean happy 97% of the time. She hasn't been making any improvements in motor skills (gross or fine), but she hasn’t been losing skills lately either. We are so grateful that she has stayed healthy for the most part through the sick season and she has been gaining weight well. She also has seemed more with it lately. I don’t know what it is but she seems to be trying to communicate more through the way she looks at me. But, as is often the case, when you say things are going well, things take a turn for the worse.

Brian and I think that Becca may be having little seizures this week. She’s been doing this thing where her eyes roll back and her limbs shake a bit and then she’s fine. They only last a few seconds. We have no way of knowing if they’re actually seizures. She shakes quite a bit on a regular basis without having a seizure. This morning she had one of her moments where she zones out for a while and just lays there (I think it’s a little seizure but of course I can’t be sure). The only thing she would move was her poor little hands that never get rest (except for when she’s sleeping). She has been pretty unhappy these past couple days. I’m hoping these seizures or whatever may be bothering her get better soon. Brian and I both get really discouraged when we can’t figure out what to do for her. I scheduled an appointment with her neurologist. Maybe an adjustment in her medication will do the trick. I think that we’re just really worried that she may be starting to go downhill again. I don’t feel brave enough to see her lose more.

Also, I really feel like Becca is trying to tell me something lately. Sometimes she will look deep into my eyes with a look that seems to say help me. It truly breaks my heart every time. I know that she is going to learn how to better communicate with us, but until then we just have to try to be patient.

I can’t remember if we mentioned on here, but at the end March we got Becca’s wheelchair! We’re really liking being able to move her around more easily and it seems like a really nice chair. I don’t have a picture that shows all of it yet, but this will give you an idea…

A few weeks ago my family was in town for graduation. It’s always neat for me to see how much Becca loves people. She really seemed to enjoy having everyone in town. This video is from that weekend. She was having a fun time playing with her Daddy…

I guess this post is rather random. I have so much on my mind with Becca and getting a tiny bit out helps. But, in the spirit of randomness, here is a random picture of Becca that I absolutely love.

I could just cuddle with you all day dear Becca.

PS- Becca, you have really pretty teeth…will you stop grinding them? Thanks.

Hand Movements

2010-04-25T16:40:00.000-07:00

One common symptom of Rett Syndrome is repetitive hand movements. Rett girls flap their hands constantly (it sure seems like they'd have some pretty buff hand muscles, no?) often at or near their mouths. Becca fits this symptom exactly. Coupled with her very poor motor skills, her hand movements makes it really hard for her to do anything useful with her hands. When she was younger we taught Becca some basic signs, including "eat" and "drink", and she's still able to sign both of these words, but that's about all she can do successfully. Becca also could pick up food with her hands, and even at one point started using pincer grasp to pick up food and small items, but she gradually lost that skill.

I wish we had some better videos to illustrate Becca's gradual loss of motor control, but at the time we were a little sensitive and only took very flattering pictures and videos of Becca, so I'll just have to re-cap with words.

This is Becca at about 12 months old. You can see here that she was good at holding on to things, and could use both hands. She had enough control at this point to bring food up to her mouth, and to hold on to something as long as she wanted. She would hold and shake toys, and really liked to hold things in her mouth. We were actually bad parents apparently since we let her drink her sippy cup lying on her back, but she could hold the cup by herself that way and we didn't really want to take that skill away from her, so :-P.

About this time (around 12 months) we started feeding Becca cream of wheat (mixed with ice cream) to get some heavier, caloried food into her (and mostly because it had more fiber than other foods we could find for her). She really liked it a lot. She would sign "eat" between bites, and end up getting cream of wheat on her hands (and the couch, and her clothes... cream of wheat is a horrible food to try to clean off of things, if you were wondering). She liked the way it felt and she would rub her hands together whenever she had cream of wheat on them.

After a little while it became sort of a reflex for her, and she'd flap her hands against each other whenever she was eating, even if her hands were clean. That was one of our big worries, since it sure seemed like something was wrong. But for a while it was just when she was eating, which technically could have just been a tick or something.

That same clasping movement started happening more and more often. Like you can see in the next video, it was relatively subtle at first, but she would close her hands repeatedly, and then bring them to her mouth.

She liked to bring everything to her mouth. We bought her an electric toothbrush because the therapist said sometimes if kids don't get enough oral stimulation they'll put everything in their mouth, which didn't help much, but at least we were cleaning her teeth better :-). The hand movements got worse -- very gradually -- and she started dropping things. If she wanted something, she'd reach out and grab it, pull it to her mouth, and then drop it after a second or two. She also stopped holding her own sippy cup.

By twenty months Becca couldn't really hold things anymore. Her fine motor skills were pretty much lost, but her gross motor skills had improved a little bit -- this was her peak, probably, as far as more broad gestures. She had a few weeks where she was even clapping! I'm glad we got to see that, even if only for a little while. She seemed happy to be able to express herself like that.

By two years her hands moved constantly and she couldn't really do anything productive with them other than mash big buttons on electronic toys. You can see ere where she tries to eat her birthday cupcake. She really wanted the it, but couldn't figure out how to get it to her mouth.

That's about where she's stayed since then. Her hands open and close constantly, and she usually tries to have one of them in her mouth. Every once in a while she gets them red and sore from sucking on them too much, but she's been better about that lately. She does still sign eat and drink, so I'm really glad we taught her those early on.

It's been hard to watch Becca lose skills like this, especially as we see other kids her age (and now her little sister, too) learning so easily. I don't think people appreciate what a huge miracle it is for kids to learn new skills so quickly and so often. Becca's little sister is a constant miracle to us as she just decides to pull herself up to standing one day or to start feeding herself or to walk from one piece of furniture to another.

Next time you're worried because your kid won't say "mama" or doesn't seem interested in walking or whatever, take another look -- I guarantee there's amazing things to notice that they're learning all the time. And if nothing else, be grateful that they hold onto the skills they learned six months before. You don't know what a big deal that really is.

First Day of School

2010-04-06T15:27:00.001-07:00

Well, I sure never thought my daughter would have her first day of school at the age of three! Yep, Becca started preschool a couple weeks ago and this it how she feels about it...

This is so not what I pictured her "first day of school" picture to be like

Yep, she loves it! She loves all the attention she gets and watching all the other kids. She is currently on spring break (I asked her what she wanted to do for spring break and she just sort of looked and me like, ummm, what?) but she'll be back to school next week. She starting out with just an hour and a half on Wednesdays and Thursdays (because it's a smaller class on those days). She'll work up to staying the whole 2 and 1/2 hours.

You ask how mom is doing with this new development? Well, I guess I must first confess that I haven't actually left her at school yet. I've stayed with her the entire time all the times she's gone. I guess that makes me a wimp. But, I must say that it has made me a lot more comfortable about leaving her in the future because I know exactly what she does when she's there and I'm getting to know her teacher. Her teacher has been wonderful so far. She's so willing to let me come as long as I want to. I'll probably stay at least another week or two.

Preschool consists of play time (for Becca this is usually speech therapy), gym time (sometimes physical therapy for Becca), circle time (singing songs, story time, learning a letter of the alphabet, etc.), activity time (painting, coloring, crafts, etc), and snack time...we leave at this point so who knows what happens next! For all I know they could have spanking time next! Yikes! Ok, so I know what happens next, potty time. Becca has potty time 24/7 so I guess that won't be all that eventful for her and then reading time and then, something else that's probably cool.

This whole preschool thing was really hard for me as the day approached that Becca would be starting, but it's really a lot easier now that I see how much she enjoys it. Any guesses as to how long I will be attending preschool with Becca? Your guess is as good as mine.

Cute Three Year Old!

2010-04-05T13:16:00.001-07:00

Becca turned three on the 20th of March! I can't believe she's three! Well, I can and I can't. Leading up to her birthday I had many conversations with Brian about what we should do for her birthday. Of course it's true that she has no clue what a birthday is let alone that it was going to be her birthday but that doesn't change the fact that we know it's her birthday. I was having a really hard time leading up to her birthday and just thinking of all the things that we miss out on that we (and she) should be enjoying with a normal three-year-old. But we decided that we wanted to make it a happy day and try to make it a special day for her in any way that we could think of.

Her day didn't start out the happiest of days for her, but we spent extra time playing with her, laying next to her, and talking to her. I didn't make her do any therapy all day. After a nap we took her outside for some play time...

As you can see, she wasn't too thrilled with the outdoors. She usually loves being outside. I think she may have had a headache. So we tried something else...couch time and some M&Ms (Becca's favorite candy).

I think that did the trick. She enjoyed some cuddles from her aunts and opened a couple presents (watched Daddy open a couple presents) and had some "birthday cake" I made a "cake" out of sherbet mixed with cool whip over a graham cracker crust and she loved it! It seemed to lift her spirits. She then got a special visit from Grandma and Grandpa. She sure loves it when people come to visit her.

Becca received many phone calls throughout the day from people who were out of town but wanted to wish her a happy birthday. She liked hearing people sing happy birthday to her...

It was a nice day. I think Becca had a nice day (besides her couple unhappy times). Thank you all for your phone calls, cards, presents, and birthday wishes! Happy Birthday to our beautiful Becca.

Melatonin Helps

2010-03-14T19:30:00.001-07:00

So Becca's been taking a melatonin pill every night an hour before bed for the last two months, and I think it's safe to say that it's definitely been helping her. It was getting to the point where every night she'd cry for at least an hour, sometimes up to three, when we put her down for bed. But she wasn't sleeping in any longer -- and it kind of seemed like she was even waking up earlier -- so we were getting worried. I mean, it's not like she was mouthing off when we asked her to help clean up her toys or anything, but was having a lot harder time being happy.

Becca usually goes down for bed at 8pm, and she wakes up anywhere from 5am to 7am. I don't remember how many hours of sleep 3 year-olds are supposed to have, but from what I hear that's really good for a Rett girl. Sometimes she wakes up quietly, and sometimes she wakes up and yells I think out of boredom. Paula doesn't get up with that early, she goes into her bedroom (she still fits in her crib pretty well... no idea what we're going to do when we need to move her to a bigger bed), pulls out her pillow and gives her a toy instead, and that usually keeps her happy for an hour or so.

Anyway. Becca's neurologist had mentioned melatonin before if we ever needed it, so we called her up to find out what kind of dosage she should have. It's not a prescribed thing, but it's not like you can find it in every grocery store, so Paula had to go to Rite Aid to find it. She found a liquid one and a pill one (sublingual was the term on the bottle... apparently that means under the tongue as opposed to less-than-capable at speaking even one language, like it sounded to me originally), and wasn't totally sure what to get. She ended up asking the pharmacist to double-check that she remembered the dosage and everything, and he politely told her that melatonin isn't for kids, they shouldn't need it. She tried to explain the situation, but I think the guy judged her anyway. So we got the pills and figured we'd give it a go.

Becca doesn't keep things sublingual, so much. She's actually pretty good at rolling things around in her mouth -- way better at that than actually swallowing them, as it turns out. But she does swallow these pills pretty well, so that's cool. We just have to remember to give them to her every night an hour before bed, since it doesn't really help that much unless you give it a little time to do its thing. We weren't sure if it would actually do any good, but it seems to be working for Becca. Now she's falling asleep in a blessedly normal ten minutes or so, and waking up a happy girl once more. And thanks to the Keppra, once she's gone she stays a comatose noodle for most of the night... you couldn't wake her up if you wanted to.

Rough Week

2010-01-07T11:11:00.001-08:00

I'm having a rough week with Becca. She has been shaking more this week. She has been a lot weaker this week. I put her in her gait trainer and she just goes limp and gets mad. But I do it every day anyway. I set the timer and we muddle through until at least ten minutes. I know it's good for her and I know that she'll get back to being ok with it and maybe even start enjoying it again. I'm sure it's hard for her to get back into the swing of things after being back from vacation.

I can't help but cry out of frustration and discouragement when Becca has a hard week like this. I'm exhausted. I think of all the things Becca misses out on. More than that I think of all the things I miss out on (mostly with not being able to communicate with her). Things are just so hard for her! A couple weeks ago I gave Katie a bath in the real bath for the first time and she just sat there. I didn't have to hold her up or anything and she wasn't scared and shaky. I was in awe! Is this what most kids do? I have so many of these experiences as Katie has learned things so easily. Mostly I cry because I'm discouraged. I'm not able to take care for Becca as well as I think she deserves. And man, it's just discouraging to work so hard at skills just to lose all our progress in one day. Makes you feel like it's pointless to work on things! But well, life goes on. I love sweet Becca more than I can say. I would do anything for her.

On a more positive note, Becca did quite well on our trip out to Colorado. She had a wonderful time with her Grandma, Grandpa and aunts and uncle. She loves her family so much. She really loves people in general, but it does seem like she favors those who she's most comfortable with. Lately sleeping has been harder for Becca. Well, sleeping hasn't been so bad once she gets there. It's falling asleep that is really hard for her sometimes. At times it can take her more than 3 hours to fall asleep. One day in Colorado Becca decided she didn't want to take a nap. She assured me that she didn't need a nap and that she would be a perfect angel for the rest of the day (I'm sure that's what she was saying with her little mischievous smile). Here is what she was like in the evening right before we were supposed to go out to dinner...

She sure makes me laugh.

Becca loves watching other kids play and it was fun for her to watch her sister and cousin get into trouble. She loves her sister and cousin!

Becca had a wonderful Christmas! She was healthy and happy. I couldn't have asked for a better Christmas present. I hope you all had a wonderful holiday season!

Our Happy Girl

2009-11-19T14:29:00.001-08:00

I don't have time to write a long entry today, but I thought I would post a video of Becca from a few weeks ago.

Becca really is happy most of the time and it is so contagious! We sure love her.

Rett on the News

2009-11-13T08:41:00.001-08:00

If you are interested in learning more about Rett Syndrome, KSL posted the story that ran last night on their website: http://www.ksl.com/?nid=148&sid=8649182. The doctor that they interviewed (Dr. Rope) is Becca's geneticist. They talk about some interesting stuff!

Becca's Walker

2009-11-02T11:38:00.001-08:00

We recently borrowed a walker from Becca's physical therapist and I know some people are interested to see what it looks like.

She tolerates it pretty well. We are working up to 30 minute increments and we're at 10 minutes so far. I don't force her too hard because I don't want her to hate it. She's starting to move a tiny bit in it, but is not taking steps yet. We are grateful for another way to do physical therapy with her and hope that it helps her!

Seizures?

2009-10-25T21:05:00.000-07:00

We've wondered for a while if Becca has had seizures. It's a common problem for girls with Rett, although they can be hard to recognize sometimes -- even with an EEG, since the results are commonly abnormal in general for Rett cases. In Becca's case, we suspected she had them in her sleep, and that we may have actually seen some when she got startled awake. In the nighttime if we ever had to sneak into her room and accidentally made a noise, her eyes would pop open, and a second or two later her arms and legs would come up off the bed and start shaking/tremoring for fifteen seconds or so.

We asked the neurologist about it, and she assured us it was just part of her ataxia, and that when she woke up her muscles were just spasming because she didn't have control of them yet. That's what we wanted to hear, since we really didn't want her to be having seizures. It seemed to make sense, too, since she could look around and wasn't holding her breath when it was happening, and someone somewhere told us people won't look at you when they're having a seizure (not so sure if that's true anymore, but that's what I heard at the time).

Anyway, now I'm not so sure she wasn't having seizures. I think we've already mentioned the two separate mornings when Becca woke up a complete noodle, just very worn out and moany. She'd mostly recover after half an hour or so, but it would mess up her development somewhat, and we were really worried that those actually were seizures, so we talked to the neurologist again, and ended up getting a 48-hour EEG scheduled.

Becca had one of her shaking spells while hooked up for the 48-hour EEG. We pushed all the buttons and everything to make sure they got it recorded, and one of the nurses came in right after and said it looked like they'd recorded a seizure. Next morning the neurologist stopped by and said that wasn't true. She said Becca's EEG was abnormal in general, and while everyone agreed that the shaking looked just like a seizure, the EEG didn't show anything to convince them that it really was a seizure. Even still, she decided to put Becca on Keppra in case the other two events really had been seizures.

Fast-forward to now. Becca doesn't do the shaking thing in her sleep anymore. At all. Her ataxia is just as bad as it's ever been (we were playing piano together today and I had to hold her just right or she'd shake at her trunk and lose control of her arms), so I doubt that she's just "better", but I can't get her to shake in her sleep like she used to. I've actually been trying for a few weeks to get a video of it to post, because we can't seem to get a definitive answer on what it is, but she's actually a really deep sleeper now. I just went into her room, flicked on the light (she flinched at that, but that was all), made some really loud noises, and even sat her up in bed, but she wouldn't wake up at all. I finally got her to open her eyes, but there was no startling into shaking like there used to be.

I know there's probably confounding factors. Maybe Keppra makes you sleep more soundly or something, or maybe she's just moved out of that phase. But I really can't help but suspect that those were little seizures she was having. The last time we spoke to the neurologist (Dr. Benedict) she said she wasn't convinced that the episode they recorded wasn't a seizure, and I'd probably say the same thing. Especially since she hasn't had the little drops in development that she used to have.

It's probably worth mentioning that Becca doesn't breathe well, especially when she's asleep. She gasps sometimes when she's awake, and when she sleeps she tends to take little tiny breaths, stop breathing for a few seconds, then take a deep breath. I know that's also not uncommon with Rett (and Paula actually breathes infrequently when she sleeps, too), but there you go.

Anyway, the moral of the story is we don't actually know if Becca's ever had a seizure. We're pretty sure she has, but nothing's been officially observed. And we wonder if maybe those small shaking episodes were seizures as well. The good news is that Rett cases tend to have fewer seizures as they get older (although by older they tend to mean adolescence or beyond, not two and a half), and of course that whatever those shaking spells were, they're gone now -- can't say as we were the biggest fans of them, whether seizures or not.

Becca's Story

2009-09-11T10:44:00.000-07:00

Since we want this blog to be a record of our journey with Rhett Syndrome, I thought it would be a good idea to record a little bit about Becca's life so far.

March 20, 2007. Rebecca Jane Whitmer joined our family. The second I laid eyes on her I knew she was special. I can't really describe it in words. It was just a strong feeling that I was extremely blessed to have such an amazingly strong and special girl as a part of our family. The first part of her life was quite uneventful. She was a healthy, happy baby and very content most of the time. Her only problem was that she didn't know how to suck when she was born. It took her until she was two months to learn to nurse. Looking back on it we now realize that she was a floppy baby. She learned to lift her head a little bit later than other babies and it sure seemed a lot harder for her.

By five months Becca was really good at rolling from her tummy to her back and she wasn't consistant at rolling from her back to her tummy until she was seven months. But she was quite the roller.

The first time we really started to worry about Becca was at around 9 months. We would try to get her to sit and after a few seconds she would fold in half and then she couldn't get back to sitting. At around 11 months she wasn't really any better so we signed her up with the early intervention program. She started up with physical therapy right away and within a month we saw a big difference. She could get herself back up to sitting if she folded in half. Also around this time we noticed that when Becca would get startled awake she would shake really bad (looked like arm and leg convulsions). We didn't think it was a seizure because she would look us in the eye when it happened, but other than that, it looked like it could be a seizure.

Around this same time Becca had her first of many tests. She didn't like (and still doesn't like) to put weight on her right leg. She had an ultrasound of her hips and everything looked great and normal! Her second test came when she was about 14 months. The doctor referred her to a neurologist (Dr. Benedict) at this time and she recommended that we get an MRI to make sure nothing was wrong with Becca's brain. Once again, completely normal!

Next on the neurologist's list of things to try was an EEG. This test would be done when Becca was asleep and would show us if she was having seizures (at least during the test anyway). This test came back abnormal, but there was no actual seizure activity. So, once again, no answer. It only could tell us that Becca may be prone to have seizures. At this point, Dr. Benedict was almost positive that Becca had Angelman Syndrome. We definitely didn't agree. But, Dr. Benedict referred her to a geneticist (Dr. Rope) which we thought was a good idea.

Around 18 months Becca started figuring out how to get up to sitting all by herself! We were so thrilled! She would get up on all fours and then push up to sitting from there. This was a huge improvement. I remember that one of the most exciting things for me was to see Becca sitting up when I went to get her from her crib. But it was sort of bittersweet, because her shaking was getting worse. She would shake whenever she felt unsteady or got scared.

At 22 months we took Becca to see Dr. Rope. He was almost 100% sure that it wasn't Angelman Syndrome. Yay. But, he was also not convinced that it was anything genetic. He told us of a few tests he would do if he were to do testing. But, he didn't want to right away partly because it's harder to get insurance to cover at that young age and partly because it's easier to diagnose when they're a bit older. Besides, he thought it was neurological. So, we were sent back to Dr. Benedict with the idea that we would come back to see him in a year and at that point do testing if things hadn't improved. Dr. Rope also told us to contact him if Becca were to ever be admitted to the hospital. Apprantly, insurance will pay for some genetic testing if she were in the hospital. So silly.

At about 24 months Becca started crawling! Not like crawling all over or anything. It took her a ton of motivation and prompting to get her to crawl to a toy. But, she was moving a little more and playing in kneeling position. We were so excited to see these little improvements.

Things were moving along with not much improvement. We had noticed that Becca had started doing this patting motion with her hands basically all the time. She wasn't able to use her hands to pick up small things anymore (no more self feeding). Also, her shakiness had gotten quite a bit worse to the point that it was hard for her to get to her toys and play with them without falling over. She was still putting everything in her mouth and biting everything she could get her hands on. We attributed this to teething (2 year molars are brutal). But it's not like this was a sudden change. It had been quite gradual, so we didn't notice it right away.

Then one morning (about 26 months) Becca had slept in quite a bit later than she usual does. Then I heard her crying in a different way than I had ever heard her cry. It wasn't really loud, just a soft really sad cry. I went to get her and when I picked her up I noticed she was really floppy. But, I had to nurse our other child so I placed her on the floor in front of me and figured she just had to wake up. When Brian came out and picked her up she was like a wet noodle. He could hardly hold her because she was just slipping through his hands. Needless to say, we were really scared. She was just laying there not moving and when we would try to get her to sit up she would just moan. I gave her a drink and just let her lay there while we tried to figure out what we would do. And then, about a half hour later, she was fine. Not 100% back to normal, but she was moving around and acting pretty much like she normally does.

We luckily got an appointment with Dr. Benedict that afternoon. She told us that it sounded like she may have had a seizure before I went in to get her. But what she was most concerned about was that Becca seemed to be doing worse. So she had us schedue her to have another MRI and EEG the following week. And the results from those tests came back exactly the same...normal MRI, and abnormal EEG with no actual seizure activity.

With those results, Dr. Benedict decided it was time to come up with a reason for Becca to be admitted to the hospital so that she could be tested for a couple genetic disorders. Dr. Benedict had her admitted for a 48-hour EEG. While she was there she had a couple genetic tests one being the test on the MeCP2 gene (Rett Syndrome). She also had an eye exam and a swallow study. Both were normal. Of course.

That brings us to August 25, when we received the results telling us that Becca has Rett Syndrome. I'm sure I will never forget what it was like to receive that news. It was such a strange mix of relief and complete devistation. We had been wanting to know what was wrong with Becca for all this time and yet, I couldn't help but have a small part of me feel like I didn't want to know after all. But, we take it one day at a time. We have our hard days and our easier days, and I suppose that's how it will always be.

I had a lot of fun putting together a slideshow of Becca's life so far. Becca has always been such a beautiful, happy girl. I sure love her.

Official Genetic Results

2009-09-06T11:52:00.000-07:00

Well that was an interesting experience. We got a phone call last week with the official results of Becca's MECP2 tests. If you recall, before they told us they found something abnormal on Becca's test, but weren't sure what it was and they wanted us to get tested to confirm. When we finally got the call about Becca's test, Dr. Benedict (the neurologist) just said the test came back positive for Rett. She didn't say anything about the questionable-ness of the test, and we weren't entirely sure she got the final results instead of the intermediate results. Dr. Rope, the geneticist, called a few days later to set up an appointment to talk in more detail, and when we met with him we asked for clarification on our test results. What he said is that they asked for our tests for an independent study they were doing to double-check that there wasn't a correlation between parent and child in Rett cases or something like that. He said it was kind of inappropriate for them to not tell us that up-front, but at least we got tested for free and now know that Paula isn't a carrier.

Dr. Rope talked about a lot of stuff that I found interesting, and I thought I'd share. Keep in mind this is what I understood, so it's not necessarily 100% accurate, but it's probably more than you ever wanted to know anyway, so whatever :-).

The MECP2 gene, which is linked to Rett Syndrome (and some other issues, like autism and lupus), has four transcribed regions (exons), with exon 4 being the largest, which are involved in the process of generating the MECP2 protein. Mutations in one or more of the MECP2 exons can result in a malformed MECP2 protein and a common set of side effects known as Rett Syndrome.

In Becca's case, the mutation is on position 403, where she has a G nucleotide instead of an A in one of her X chromosomes (c.403A>G). Position 403 is part of the methyl-citosine-binding domain (MBD), and is on exon 4 which starts somewhere around nucleotide position 390 or amino acid position 130. This mutation is on the rarer side, 2 cases in 424 for the study I saw.

As a result of the mutation, the structure of the protein is altered because an amino acid is changed from lysine (AAA or AAG) to glutamine (CAA or CAG) (p.Lys135Glu or K135E, although if you search for K135E you run into a bunch of articles on Werner's Syndrome, which is this weird disorder where you age faster than normal). Lysine is a small, neutrally-charged amino acid, while glutamine is much bigger and negatively charged. As a result of the change, the protein can't 'fit' where it would have before, which causes problems. Dr. Rope said a few times that while the MECP2 mutation is a cause of Rett Syndrome, he thinks it's not the only cause, and that it's actually something that happens farther 'downstream', which is why some people test negative for Rett genetically with a positive clinical diagnosis.

Anyway, because all of this happens on the X-chromosome, it's not active in all cells. On a guy the X-chromosome is always activated, so an MECP2 mutation would affect every cell, which is why the only real male Rett cases have other problems (like Klinefelter's, where they have an extra chromosome, XXY). Since each cell only activates one chromosome, not all cells will have an active MECP2 mutation, and the ratio of mutations apparently relates to the severity of the disorder. X-inactivation is supposed to be random, which would put it at 50-50, but there can be reasons for it to not be completely random. Because Becca's case is somewhat abnormal and on the milder side, the assumption is that she doesn't have as many mutated cells as the common Rett case.

Oh! I just figure out what this lab report was talking about! The report said, "K135E was previously reported in several patients with classic Rett Syndrome; however, parental studies were not performed to confirm de novo occurrence. Another study found that K135E imparied the function of the MeCP2 protein." I didn't figure out until a minute ago that K135E and the Lysine-Glutemine problem were the same thing (although I'm still not sure what the 135 means in that... lemme know if you do!). So from that and Dr. Rope's comment, it sounds like the folks at ARUP are trying to show that the K135E mutation is not inherited ("de novo" mutations are new mutations, not inherited).

I actually thought all of that was really interesting. Maybe just because it's my daughter, I don't know. But none of it really helps in knowing what to expect for Becca's future. We did ask those questions of Dr. Rope as well, although he didn't have as good of answers. It's not his fault or anything, there's just not as good of answers to give. Andreas Rett first describe the syndrome in 1966, and since then there's been studies and things, but mostly on a clinical level. The genetic link wasn't discovered until 1999, so there's not really a lot to go off of. The cases that have been studied are those that matched the common case (which Becca's doesn't), and were diagnosed without genetic testing (which Becca wouldn't have been), so it's hard to say.

I'm still doing a lot of reading and studying on typical Rett (they call it RTT, I guess because that extra "e" in there was just too much to handle), and I don't know a whole ton more than I did before. I've been doing most of my looking on a technical level, though (interestingly enough, the report we got back from ARUP on Becca's lab results cross-referenced a couple papers on Rett, and they were the exact same ones I kept finding in my searches... I couldn't read them because I haven't paid for the journals, but maybe I can get to them on campus or something...). I'll start looking more normal places now for more general information.

Anyway, this post is totally just for the curious -- and in reality, probably just for my own benefit in the future. I assume this blog will change somewhat since we now have a diagnosis. Paula and I both agree that we'd still like to keep this blog going, in case it can be of use to someone else trying to figure out their own diagnosis or whatever (plus there's plenty more we'd like to share about Becca than we feel we can do without overloading the family blog), so stay tuned :-).

Eye Exam

2009-08-14T12:57:00.000-07:00

When Becca went in for her 48-hour EEG, she had an eye exam as well. The eye doctor saw that her optic nerves were pale and wanted to schedule her for a full eye exam. This would involve using anesthesia so that they could easily get clear pictures of her eye.

This happened last Thursday and I'm happy to report that the day went very smoothly. Here's dear Rebecca all ready in her hospital pajamas. PS- They really should get new pajamas.

You can't tell from the pictures, but she was in very good spirits for the whole day. The exam took about a half hour and then we had to wait a little while after that before we got to see Becca. When they brought us in to the recovery room Becca was still in very good spirits and it was almost as if nothing had happened. I was so grateful because when she was put under for her MRIs she had a really hard time waking up and was unhappy for a day or two.

The results: 100% completely normal! They didn't tell us until after the fact that part of the reason they were doing this test was to see if she has something called Batten disease. I think they chose not to tell us ahead of time because it's a very depressing and fatal disease. But, well, no worries because everything was normal. The doctor even said that when they got a good look at her eyes he saw that the optic nerve wasn't even really pale (apparently Becca wiggled her eyes a lot for the other exam). So yeah, no new clues into our little puzzle girl, but we never mind getting normal exams! It's always nice to report good news.

Sister Golden Hair Surprise

2009-08-02T15:13:00.001-07:00

One thing that nobody's ever been able to find a good reason for is the state of Becca's hair. It's really curly, which I think she gets from me, and she tends to get a bit of a mullet because she spends so much time on the floor still; there's a swath in the middle of the back of her head where the hair never gets long because she's always laying on it... just like any kid that still spends a lot of time on their back.

But that's not the issue, that all makes sense. The question mark is that Becca's hair is still really fine. At least I think that's the problem. It seems like little babies have much finer hair than adults, and it gradually gets coarser or something. But Becca's hair is still really really fine, and hasn't grown in very thick, either. Although the thin thing might be because it comes out really easily. She usually loses a bunch if we put any ties in her hair. One time she was playing with her cousin Logan and he came over and yanked a whole clump of hair out of her head. She didn't seem to mind at all!

We've mentioned it to the neurologist and the genetecist, and they both seemed to dismiss it -- or at least, not bother addressing it in front of us. Sometimes it's hard to tell if doctors really hear you or not. When we mentioned it to Dr. Savage she said, "I assume she's had her thyroid checked." We said, "uh, no..." So we got that tested, since apparently that's a common cause of hair loss. The first time they tested her thyroid, it came back just slightly outside the normal range (now I can't remember if it was hypo or hyper... should have written it down before), so they tested it again and it came back normal that time.

The only reason I even bring this up is because none of the likely candidates for a diagnosis (Angelman, Rett, etc.) seem to list anything abnormal about hair in their list of symptoms. Nobody's ever said "oh, that's normal for kids with..." any of the possible problems Becca's got. So maybe it's a red herring, maybe it's completely unrelated, or maybe somebody somewhere will say "does her hair fall out really easily?" and we'll say "yes!" and they'll say, "well, then obviously is Kerbsmilter's Syndrome" or something like that.

I guess more importantly, because Becca's hair can't seem to get very long, we're at a complete loss for what to do with it. Most days she looks like Cindy Lou Who (or maybe Medusa) with her unruly curly locks. We've recently started putting a little pomade in it so at least the locks kind of clump instead of looking like a complete mess, but we'd love to hear any thoughts anybody has on what to do with this girl's hair.

MECP2 Results

2009-07-28T17:26:00.000-07:00

Paula got a call back from Primary Children's yesterday about the results of Becca's MECP2 test. That's a test for Rett Syndrome, by the by. Dr. Rope called himself, which was nice of him, and explained that they actually did find something abnormal on the MECP2 gene -- but he said it's something they've never seen before. Sounds like Becca, doesn't it?

Anyway, what they want to do next is bring me and Paula in and run the same test on us, just to see if there's anything abnormal on our MECP2 genes. If there were, then it might actually be nothing, since it's not doing the same thing to us that it's doing to Becca -- and even if there were it could still be nothing, but it also might be a hint into what's going on. Maybe. We'll let you know how our tests come out.