Competing with the Pink Ribbon

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

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.