Discouraged

I’m having an overwhelmed day.  How can a little girl that is this cute cause any kind of stress?….

 
Becca was a farmer for Halloween and her siblings were her farm animals.

Well, it started with a cold.  A cold that got passed through each of our children, but when it got to Becca it was quite a different experience for her.  Then, after a week of being sick she had a seizure, threw up, and aspirated (after she went to bed).  We were really close to taking her in to the hospital that night because her breathing was really labored.  I ran to the store to by a pulse ox while Brian woke her up to see if we could get her breathing better.  After a blessing from her Daddy we took turns sleeping next to her to make sure she was breathing ok.

The next day I took her in for a chest x-ray which showed a small amount of aspiration which they ended up diagnosing as aspirated pneumonia.  The next morning she had a fever and another episode of very labored breathing that almost landed her in the hospital.  Suctioning wasn’t helping.  It was scary.  I even packed a bag and called my mother-in-law to head over. Then she got a little better after we turned on Mickey Mouse.  We did this for the next couple days…

Notice suctioning behind Daddy, pulse ox in front along with oxygen which she was on 24/7 for the next week.  I’m so grateful that Brian was able to stay home most of the week to help.  I wouldn’t have been able to do it on my own (she would have ended up in the hospital).

It’s a scary thing to see your child struggle to clear their congestion…very scary.  It’s frustrating to sit there wishing I could cough for her and just hope that she’s getting enough oxygen.  The cheap ($50) pulse ox that we got wasn’t very accurate but we tried our best to monitor her O2 levels. 

 
Here she is after being on her strong antibiotic for a day.  It really made all the difference.

Now here’s the kicker.  After taking her in for a second chest x-ray we found out that it was very mild aspiration.  Her second x-ray was quite clear and the radiologist said it wasn’t clear pneumonia on the first x-ray.  Wow.  If this is what happens when she gets a mild virus with mild aspiration what will happen when she gets a bad virus with lots of fluid in her lungs.  Well, I know what would happen.  She would be in the hospital fighting for her life.  I hate Rett syndrome.  I mean hate.  I’ve never been one to hate, but I HATE Rett syndrome. Our sweet angel Becca is so fragile and I hate it. 

I’m a little teary today.  Becca has had a hard time being back at school.  A dumb cold has completely changed her school experience.  I get notes from school every day saying that she coughed a lot. No longer am I getting happy reports.  Her bus drivers are scared to drive her because they say she has so much congestion they’re worried she’s going aspirate at any moment.  I am super sensitive about Becca.  Today the bus driver said as we packed her on the bus that “he didn’t know if I would send her today because it’s swimming day and with all her congestion/mucous she has…”  I said as politely as I could muster, “Well, unfortunately this is her lot in life.  She’ll likely be this way for the rest of the winter.  I have no idea what to do.”  And then the afternoon bus driver had to bring her home first even though it was way out of order because she was “about to aspirate”.  It makes me feel like a horrible parent.  I know they’re just being nice and trying to help out but it feels like they’re wondering why I send her when she’s congested/coughing and at such a high risk to aspirate. 

Becca’s chest x-ray shows chronic aspiration.  I don’t know what to do about that.  Becca lost 2 pounds since March and 3 since last summer (she weighs 34lbs).  I don’t know what to do about that.  She hasn’t been to physical therapy in months and her joints are stiffening.  I sure feel like I’m failing.  I know that’s dramatic but it’s the way I feel today.  I’m going to go cuddle with my Becca now.  She makes me feel better, it’s that dang Rett syndrome that nags at me.

Rett Syndrome Research and the Boston Studies

I've been doing a lot of research over the last month on papers published relating to Rett Syndrome. There's been plenty of talk about reversing or lessening the symptoms of Rett, mainly because of a drug trial going on at the Boston Children's Hospital. I heard there was a study published a couple years ago talking about some promising results in mice that were given Rett Syndrome that lead up to the clinical trial, but it wasn't clear how promising the research was. I thought I'd heard that the hormone they were using was happened upon by accident, and they weren't even sure what its effects would be, so I decided to dig in and do a bunch of research of my own. This post is a place for me to collect my thoughts and summarize the findings I came across. Maybe it will be useful for someone else as well.

I started with what I understood was the Very Important Paper. I found a link to it on Wikipedia, so I knew it was a big deal :-). Actually there were a bunch of links to it, some of them related to the Boston study.

The Very Important Paper is titled Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice and was written in 2008. It starts by talking about how they've had a hard time finding exactly what things are downstream effects of the MeCP2 mutation that causes Rett, one that they have found is BDNF (brain-derived neurotrophic factor) regulation.

Before I keep going on that paper I had to switch to another paper, The Ups and Downs of BDNF in Rett Syndrome, since unlike the authors I didn't know anything about BDNF or how exactly Rett affects it (researching protip: "etiology" means the study of causation or origination). As explained in the second paper (something of a summary paper), the BDNF connection was first discovered in 2003. In something of a surprise, BDNF levels are actually lower than normal (this is the important part), in spite of the fact that the MeCP2 mutation causes BDNF repression to fail. In other words, MeCP2 normally helps keep BDNF levels in check, so it seems strange at first blush that an MeCP2 mutation would causes lower levels of BDNF instead of higher levels. It turns out that BDNF levels actually start out high for Rett mice and drop to lower levels some time after that. The paper never actually concludes why the levels drop, and I'm still digging for more studies on that, but at least I had what I needed on the relationship between BDNF and Rett.

Back to The Very Important Paper.

The paper continues by referencing another paper, The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression, that talks about how giving mice extra BDNF fixes a bunch of Rett symptoms including "locomotor activity levels". Unfortunately, BDNF doesn't cross the blood-brain barrier well, so it's hard to create a treatment using BDNF.

However. IGF-1 (Insulin-like Growth Factor 1, which incidentally is used by body builders) is a hormone that has a lot of the same results as BDNF, and is much better at crossing the blood-brain barrier. The point of this study was to try using IGF-1 as a treatment for mice with Rett.

The results were very positive. IGF-1-treated mice have a longer lifespan than untreated Rett mice, their physical activity is almost back in line with "normal" (they called them "wild-type") mice, and their breathing variability (Rett causes a lot of breathing irregularities, especially when sleeping) and heart rate (there's lots of weird heart problems related to Rett, e.g. Long QT Syndrome) are also improved.

Next came the really interesting stuff. Rett mice typically have less-heavy brains than normal mice, but when they were given IGF-1, brain weight also increased. That's very promising for something that is clearly a neurological disorder.

Rett is known to result in immature synapses in the brain. For a long time it was assumed that this was permanent, and that there would be no way to improve synapse development for girls with Rett should a cure ever be found. People assumed if a treatment were ever found, it would have to be given *before* Rett presented in order to do much good. (here are two sources for this statement -- though it's one I didn't find until later in my research)

However, as part of this study, the team tested "cortical plasticity" of MeCP2 mice. Plastic-what? Here's the deal: when you're young, your brain is pretty flexible and adjusts to changes very quickly. This is called "plasticity". As you get older and your brain is more developed, it can't adjust as quickly. So to study this, the researches recorded the eye dominance for a bunch of normal and MeCP2 mice. Then they stitched one of their eyes shut. Young mice should be able to adapt quickly to a change like that and shift eye dominance to the open eye, and old mice wouldn't adjust very well. Since Rett causes immature synaptic development, an old MeCP2 mouse should be more like a normal young mouse, and should be able to adjust quickly to the change. That's exactly what happened -- except for the mice that were given IGF-1. IGF-1-injected Rett mice responded like the normal old mice, which suggests that IGF-1 helps to "mature" brain synapses to more like what they're supposed to be.

Remember, that's a restoration. The immature synapses that are seen in Rett cases can actually be addressed, which means treatment can help existing Rett cases, not just brand new cases. This sounded like big news to me.

It was at this point that I started checking more sources, and came across more research. I thought the Very Important Paper was where they concluded that Rett symptoms could be reversed without permanent damage, but there were actually two prior studies that had already shown that: Reversal of neurological defects in a mouse model of Rett syndrome (full text not available) and Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. Those two studies focused on actually restoring the MeCP2 deficiency itself. But getting exactly the right amount of MeCP2 is very difficult and potentially dangerous, which is why work is being done on things like BDNF and IGF-1, for example.

Anyway, this all led me back to the Boston study, which I now felt like I understood the reasoning for. I'll summarize according to my understanding now.

This is the new Rett dude at Boston Children's

Boston Children's Hospital's Rett Team is running a multi-phased clinical study of the effects of IGF-1 on girls with Rett Syndrome. The first phase of the study, why has already concluded, was focused on making sure there were no major negative side effects that came from giving girls the IGF-1 hormone. It was originally a 4-week study with 12 girls that, after it went well, was extended an extra 20 weeks in which time all the girls (even the control group from the 4-week study) were given IGF-1. I missed the webinar where they summarized the results, but it sounded like there were no major concerns. The only thing probably of note is that the study was limited to girls 12 and under, since there are concerns with regularly prescribing growth hormones to more matured individuals (but apparently a separate study for a different disorder is already investigating this, so they're waiting on the results of that study... I'll see if I can find a link and post it here).

Phase two of the study hasn't started quite yet (I think it got delayed after the Rett dude at Boston Children's ended up leaving for family issues), but should start relatively soon. I just got an email update on it via the private Rett mailing list, RettNet. The age limits were restricted to between 5 and 10 to try to get a more homogenous set. The goal with phase two is to actually examine and measure the results of regular IGF-1 intake on Rett symptoms (behavioral changes, motor impairments, seizures, breathing abnormalities, hand stereotypies, etc.). Once that's done, if it looks like it actually helps, they're hoping for a phase three, which would be a major stepping stone toward getting FDA approval of the drug for treatment of Rett.

Anyway, that's what I got out of the research I've done so far. I have more digging I want to do for sure.

I Never Knew Sleeping Could Be So Dangerous!

I have been meaning to do a post about Becca’s sleeping habits for a long time.  It has definitely been the subject of stress in this house. Brief recap: Back in the beginning of last year Becca had a sleep study that showed she has severe obstructive sleep apnea.  Her apnea is characterized as centralized sleep apnea which, at least in part, means that the part of her brain that is supposed to tell her to breath doesn’t function properly while she’s sleeping.  Pretty much her brain forgets to tell her to breath periodically throughout the whole night.  I know, rude! As a result (from both her apnea and obstruction), her oxygen levels dropped pretty low.  Anyway, since her sleep study results were not so good we decided to get her tonsils and adenoids removed to see if it would help.  That happened last June and turned into a month long stay at the hospital (see this post for details).  Since the surgery, Becca has had a great recovery and has been really healthy.  End of recap.
Oh and here’s a picture of how Becca has been sleeping since her first sleep study:

 
Since she won’t keep tubes in her nose we do blow by (high concentration of oxygen is blown into her tent by her face).  The side flap is usually down.

So, a few months ago we did a repeat sleep study to see if the tonsillectomy helped with her breathing/oxygen levels.  And the results came in….nope.  Not at all.  Her study was still just as bad.   The doctor told me that basically she’s having an apneatic/obstructive event about every two minutes through the night with her oxygen levels dropping low.  It was kind of sad considering all that we went through to get her tonsils/adenoids removed.   

The next step was to see what her oxygen levels are like while sleeping in her magical oxygen tent.  A few weeks ago we rented a pulse oximeter and tested Becca through the night.  And hooray! The oxygen does seem to be helping as her levels stayed good and high.  Whew.  That was a relief.  So after all that, we just keep doing what we have been doing.  But, I’m ok with that.  I'm just so relieved that the oxygen is helping and she doesn’t have to wear anything on her face. 
I’ve had times when I’m very worried about Becca and her unconventional sleeping habits.  As you may or may not know, many girls with Rett pass away in their sleep (without any warning and at any age).  Brian and I both have times where we go to check on Becca and we have a brief moment of sinking terror when we don’t see her chest rise right away.  At least it helps a little to know that the oxygen is helping!

Exhausting Bath Time

I just finished giving Becca a bath so I had it fresh in my mind.  Bathing has been an interesting part of taking care of Becca.  I was thinking back to when we didn’t have a bath chair and wondering how we did it!  Here is a picture from last May when we got the bath chair:

 
I love this picture!  Becca still had a little bit of baby fat …love the double chin!  And well, she loves her little sister.

The bath chair, along with a new and long detachable shower head has made bathing Becca a lot easier.  But she has gotten a lot longer and getting her out of the bath (though from a slightly higher position) is a little hard. It’s like picking up a really long, 38 lb, slippery noodle.  
Here’s our current bath routine:
-10 minute pep talk: Does she really need a bath?  She doesn’t stink that bad…well, I guess she kind of does.  Hmmmm, when was her last bath?  Oh it’s been a week, it’s really time.  Ok.
-Collect all possible needed items set up in the hallway for dressing (the bathroom is tiny and it’s hard to get her up and down in the bathroom so we dress her in the hall).  Put bath chair in bathtub.
-Make sure Becca’s fingernails are clipped before giving her a bath or else she scratches herself a ton (draws blood on occasion).
-Undress Becca and plop her on the bath chair.  Waiting to take her diaper off until she’s laying on the bath chair saves me from having to clean up a pee trail (learned the hard way :)). 
- Drape washcloth over g-tube so Becca can’t yank at it.
-Working quickly as possible bath the cute Becca.
-Stand up very slowly so as not to throw back out (leaning down for that long really stiffens my back)
-This is the tricky step.  While holding edge of towel in mouth lean down in a sort of squat position, lift Becca and pull her on to lap while sitting down on the toilet.  If it goes smoothly, Becca will then be sitting on the towel and can easily be wrapped up all cozy like.
-Lay Becca in the hall and diaper/dress her
Becca is only five.  I have a feeling that we’re going to look back when Becca is 10 or 20 (yikes!) and say, man, we had no idea how easy we had it.  But that’s the beauty of taking things one day at a time.  I know how to bathe Becca now and that’s all that matters.  When the day comes that it gets a little too hard, we’ll figure something out. 

Being Brave

There are a few things that Brian and I have had to do for Becca that we never could have guessed we would ever have to do.  One thing that I hoped I would never have to do is to send my young child in to a procedure where she would be put under.  We have now done that five times and it has only gotten harder (especially since last summer).  Going right along with last summer we never thought we would ever have to watch our child be on life support (hope that one never happens again).  There are definitely more (suctioning, constipation remedies, placing feeding tube down her nose), but this post is about how I will have to be brave tonight.

Ok, that sounds dramatic…but I actually am a pretty dramatic person so there you go.  The time has come to replace Becca’s G-tube.  Yikes!  Her current button (her g-tube is called a  Mic-key button) was placed by her GI doctor and as he placed it he said, now you will replace future buttons in your home.  I’ll admit I thought, well gross.  But, after placing a NG tube down Becca’s nose (Brian is the brave one who would do this for the most part but I had to try it so that I would know how to do it if she pulled it out when he was out of town), this should be a piece of cake.  Last night I told Brian I wanted to be brave and replace it.  I am a little nervous though.  I hope it doesn’t hurt her and I hope it’s not too messy.  And well, I guess the idea of having an open hole to her tummy for a brief moment grosses me out.  Wish me luck!  I think we’ll do it before dinner ;).

It is time!

That is it’s time to revive this blog.  Last night my husband accused me of always sugar coating everything.  I started to defend myself and attempted to prove him wrong only to realize that it’s true.  I tend to preface or conclude difficult aspects to my life with super positive statements.  For example, “Becca is having a hard time breathing at night.  But she has been so healthy lately and I’m so grateful for her!”  I guess I’m not good at telling things how they are without feeling like I’m complaining.  I really truly do love my life and adore Becca and so I guess I figure that if I talk about hard things, I also have to prove that I really am happy. 

The beauty of this blog is I can just tell it how it is.  This is meant to be a record of our life with Becca.  I really need this right now.  I have been struggling with the fact that I don’t really talk to other people about Becca.  I don’t know how to without making other people feel awkward.  It seems like people feel bad that they can’t really relate to that aspect of my life and it just gets awkward (and remember how I don’t know how to talk about life with Becca without coming across as complaining?) and I just don’t like making people sad.

So here we are!  I have a list of topics I want to write about that cover different aspects of Becca’s life and hope to post sort of regularly (whatever that is) about our life with Becca.

 
I took this picture of Becca today.  It is sure hard to take non blurry pictures with her constant shaking and busy hands.  But she’s looking older huh?

Becca's Schedule - July 2012

5-6am: wake up.
Paula usually gets up, puts a toy in her bed and turns off her oxygen. Becca usually plays pretty quietly by herself for a few hours.

8am: get Becca out of bed & have breakfast
We carry Becca into the living room and lay her on the floor or the couch. We change her diaper and give her her morning dose of Trileptal (anti-seizure medication) along with a cupful of water mixed with Miralax through her feeding tube.

Then we give her breakfast. Becca was having a hard time with the oatmeal, so we've recently changed to just yogurt in the morning. She's all smiles while eating her yogurt, and she goes through it in probably ten to fifteen minutes.

next: morning therapy
We've hired a teenage boy in the neighborhood to do some physical therapy with Becca a few times a week. Basically this consists of stretching her limbs, some time sitting up, time on her stomach, and time in her stander. We started doing this at 10:00am, but she was falling asleep about then so we tried moving it to the afternoon for a bit, but now we're going to try a little earlier in the morning.

next: formula and a show
Becca usually gets a little more formula in the morning before lunchtime. By the way, when I say "formula" I'm talking about this stuff. Becca sometimes gets upset in the late mornings, and shows definitely help. Even when she's not upset it's a nice change of pace for her. Becca's favorite show right now is Mickey Mouse Clubhouse. We also discovered recently that she really likes the movie Wall-E.

12:30pm: lunch & nap
For lunch Becca has just under half a can of Spaghettios and some more formula.  Sometimes we blend up the Spaghettios, sometimes we don't, just depending on what she seems able to handle. We'll also sometimes switch the formula for some squished cheese cubes.

After lunch Becca goes down for a nap. We make sure to change her diaper before naps or it'll be too full by the time she wakes up. We put her in her bed and turn on her blow-by oxygen (she has a PVC frame with sheets on top that serves as an oxygen tent).

3:30-4pm: wake up from nap
Becca usually wakes up in a good mood. If we go in and it looks like she barely woke up we give her some time, because she seems to do better if she has a bit to wake up before we get her out of bed. She usually needs a diaper change, and then we carry her back to the living room. She plays on the floor with some of her electronic toys. She really likes to watch her sister and brother play on the floor. Especially Christopher, he's crawling around a lot more now, and she seems very entertained by him.

6pm: dinner
For dinner we try as much as possible to give her whatever we're eating. She's been doing well with eating the same as us whenever possible. We keep some tubs of ravioli or mac & cheese in case we're eating something like sandwiches that don't blend well, but for the most part she eats with us. We've had to be careful lately to keep her feeding chair tight on her shoulders, or she ends up tipping her head back and choking and sometimes throwing up her food.

7:00pm: get ready for bed
After dinner and some hanging out, we start Becca's routine. We've been trying to give her melatonin and formula a little earlier in the morning because she's been throwing up in the night sometimes. It seems to be helping.

Becca's feeding tube has been good for the past little while, so we haven't needed to change the dressings anymore. She's also been pulling at the tube less which has helped as well. We haven't needed to wrap the tube or anything for at least a few months, which has been nice. We still clean out around the tube probably twice a week, but that's a lot less than before.

8pm: bedtime
After that it's family prayer and bedtime. We put Becca in her bed, brush her teeth, sing her a song, tuck her in and she goes to bed. We turn on her blow-by oxygen through the night and when she first goes to bed we lift a corner of her oxygen tent so she can see the snail night light/lamp Paula's uncle got Becca for Christmas a few years ago. Once she falls asleep we turn off the light and close the tent flap because if she does wake up in the night she'll be more likely to go back to sleep.

That's about it!

Becca's Schedule - January 2012

I've been meaning to do this for a while, but I keep not doing it. I want to start writing down Becca's schedule every six months or so so that we can get a better feel for how her routine is changing over time. Maybe somebody else will find it useful as well. I kept forgetting to post this, so this schedule is from the beginning of the year.

5-6am: wake up.
Paula usually gets up, puts a toy in her bed and turns off her oxygen. She usually plays pretty quietly by herself for a few hours.

8am: get Becca out of bed & have breakfast
We carry Becca into the living room and lay her on the floor or the couch. We change her diaper and give her her morning dose of Trileptal (anti-seizure medication) along with a cupful of water mixed with Miralax through her feeding tube.

Then we give her breakfast. We warm up a bowl of oatmeal, mix in a tablespoon of butter, and add whole milk to thin it down to about the consistency of yogurt. We sit her in her support chair at the table and feed her breakfast. She usually eats almost all of her oatmeal, and it usually takes her fifteen to twenty minutes. Every once in a while she won't eat well and only gets half of it down, sometimes less, before she starts coughing and trying to throw up -- that's our sign that she's done :-).

next: head off to school
A couple days a week Becca goes to preschool. The bus driver calls five minutes before she gets here so we can get Becca into her wheelchair and out to the curb. Then we help load her into the bus, they strap her wheelchair in, and she heads off to school. We always send her with a backpack with an extra diaper, an emergency pack for replacing her tube, and her school folder.We don't send her wheelchair tray to school with her because they try to keep her out of her chair while at school, so they never use it anyway.

next: come back from school
The bus drops Becca back off from school. She usually comes off pretty happy. She normally has some kind of craft in her backpack from school, and sometimes a note from her teacher. Her teacher uses email too, though, so that's how we usually communicate.

Right away we give Becca a little formula and (if we're feeling diligent) give her some time in her stander before naps. She watches a show while she naps, usually Signing Time.

12:30pm: lunch & nap
For lunch Becca has yogurt and either some cheddar cheese cubes or some more formula. If we give her cheese we cut it up into small pieces and squish them with our fingers before putting them into her mouth. If we're feeling diligent we'll push the cheese pieces onto her teeth and try to get her to bite down on it before rolling it with her tongue. Usually she holds the pieces against the roof of her mouth until they soften enough for her to squish them and swallow.

After lunch Becca goes down for a nap. We make sure to change her diaper before naps or it'll be too full by the time she wakes up. We put her in her bed and turn on her blow-by oxygen (she has a PVC frame with sheets on top that serves as an oxygen tent).

3:30-4pm: wake up from nap
Becca usually wakes up in a good mood. If we go in and it looks like she barely woke up we give her some time, because she seems to do better if she has a bit to wake up before we get her out of bed. She usually needs a diaper change, and then we carry her back to the living room. She'll play on the floor, we'll sit her up on the couch sometimes to watch a show, or try to get her more time in her stander.

6pm: dinner
For dinner we try as much as possible to give her whatever we're eating. We worry less about getting a specific amount of food into her, and more about getting her eating with us. For all Becca's meals we strap her support chair to a dining room chair and she sits at the table with us. For dinner we blend up whatever we're eating and add whole milk to thin it down. Sometimes our meals aren't Becca-able, so we keep some Chef Boyardee microwaveable tubs around in case. She's seemed a lot healthier since we've switched from mostly tubs for dinner to mostly our food for dinner.

Paula made a bunch of bibs for Becca, and she uses them for each meal. Becca always tries to yank them off, and she likes to put her hands to her mouth, so meals can sometimes be a messy occasion.

7:30pm: get ready for bed
Between dinner and bedtime we try to play with all our kids. We'll read books or play games or rough house, and Becca always likes being involved.

Around 7:30 we start getting ready for bed. Becca gets 2mg of melatonin via 2 pills in her mouth. She swallows them fine. Then we give her another dose of Trileptal and another 120cc of formula. After that we change the dressing on her feeding tube. We were told the tube would heal up on its own, but it still leaks a bit every day, and there's usually a little bit of granulation tissue somewhere around the edge of the hole. We have a bandage wrap and some gauze to hold the tube in place, but we think Becca still yanks on it all the time, which may be why it's not healing well.

8pm: bedtime
After that it's family prayer and bedtime. We put Becca in her bed, brush her teeth, sing her a song, tuck her in and she goes to bed. We turn on her blow-by oxygen through the night and when she first goes to bed we lift a corner of her oxygen tent so she can see the snail night light/lamp Paula's uncle got Becca for Christmas a few years ago. Once she falls asleep we turn off the light and close the tent flap because if she does wake up in the night she'll be more likely to go back to sleep.

That's about it!