rare disease
Butterfly day
One thing that I can always count on with Maggie is that if something doesn’t go as planned, it affects the entire day. I was alone with Maggie all weekend and thought going to our local children’s museum would be a fun day – plus they were releasing a bunch of butterflies on this day. What little girl doesn’t love butterflies? Before her regression, Maggie used to love this place. In fact, it was one of the few activities we could count on entertaining her for an extended period of time. They have some water features and one of her favorite things to do used to be just walking through the water fountains.
Today, and for the last 6 months, she hasn’t cared for these water features, choosing instead to trudge through the mulch – which is by far her favorite activity nowadays.
When we got there I realized I had forgotten her snack bag, including the sandwich I had made for her. Oops. Luckily, our friends Leslie and Eric were willing to sacrifice their son’s raisins to the cause. A hungry Maggie, though, is an angry Maggie. So she started biting me. This is one of her mot infuriating behaviors. Once she’s got you in her teeth, you literally have to pry her jaw open to get her to let you go. After she was fed, what I’m sure was a disappointing salad, she was in a better mood and lasted until they released the butterflies. It was a lovely sight and one even landed on her arm. Well past her nap time and exhausted, she was non-plussed. Apparently it took a little bit to register exactly what happened, though, since on the way back to the car she couldn’t stop giggling.
And that’s exactly what I planned on.
Waiting for the other shoe to drop
I feel like that’s all we’re really doing. Every day we read about another girl with Rett who’s seizures are out of control, who had to get a feeding tube, who at 25 is still no further along in their progress than Maggie, or for whom the worst has happened. With Maggie, I’ve convinced myself that forward progress, however small, will ultimately allow her to lead a full life. I’ve even convinced myself that she can lead an independent life if we can get her to progress enough. Somewhere deep down, I know, without a cure, I’m fooling myself on that, but, it keeps me going in any case.
And a cure is possible. It is. I’ve talked to some of the leading minds on the subject and they’re all optimistic. According to our friend Dan, I’m “AJing” Rett syndrome. That could mean I’m making Rett syndrome feel uncomfortable which is what “Ajing” typically means. Or it could mean I’m putting 1000% effort into it. Because of the latter, somehow I’ve been talking to the people who are running these foundations. They’re just moms and dads like us. They’re just trying to find answers like us. They all think there can be a cure. But money for trials and time is all they need. One of the problems with Rett is it leaves us with this constant sense of urgency because of all of the symptoms that are yet to hit. So I can donate money, but we don’t have a ton of time. She can live an independent life. She can live a full life. But not without our help.
Jinxed on Sleep
Everyone other than me may have known it was a bad idea, but my pridefulness necessitated the sharing of the news. A week or two ago I had written that Maggie was falling asleep in under an hour. I jinxed us. It was probably the next day when she figured out there was an opening in the railing and promptly scooted out. After a few repeated visits from one of us, eventually she fell asleep, but the excitement of it all turned it into a two hour fight again.
Every night since she laughs as she scoots her little body out the opening in the railing. Jenny, in frustration, even considered putting the crib wall back up. Not really, but it did come up in conversation.
Then she got sick. Congestion, couldn’t breathe, coughing. She’s been sick at this point for two weeks. At this point she’s more or less over the cold, but the bad habit of scooting out of bed is hard to shake. One because it’s adorable. Two, because we appreciate how hard it is for her to manage the motor planning part of getting out of the bed, but mostly because she thinks it’s funny.
We have Melatonin which is a natural supplement to help her sleep and have been trying to avoid it. Our developmental pediatrican says it’s fine. I’m just opposed to giving her medicine. I just want her to be typical. So I don’t want to give her medicines and supplements that typical kids don’t need. There are times when she needs it. There are times when everyone needs a little something. But, constantly medicating a problem that isn’t a problem for other kids is hard for me to wrap my brain around. Until she needs it, I’m hoping to keep her unmedicated. Gives me a sense she’s healthy. And that’s a relieving feeling for me.
Conversation Piece
More positive developments:
So last night I had a conversation with Maggie. A full, actual, amazing conversation. The first one I may have ever had.
It started at dinner and went like this:
AJ: Are you enjoying your fried rice? Yes? Or No?
Maggie: Ess
AJ: Do You want more beef? Yes? Or No?
Maggie shakes her head
AJ: Maggie! That’s amazing? Do you want your water? Yes? Or No?
Maggie: Ess
AJ: Maggie! This is fantastic. Well, I think dinner’s over, do you want to get down? Yes or no?
Maggie: Ess
Then she spun her legs around off the chair, stood up and got down from the table.
This type of interchange continued for the better part of her bedtime ritual. Do you want to get in bed? Ess. Do you want to read a book? Ess. Do you need to sit on the potty? Shakes her head. So on and so forth. It was awesome.
If I had human emotions, I likely would have cried.
The main reason I can stay optimistic is because I’m impressed every day by the things that she can do that everyone tells us she wouldn’t be able to do. And this was really impressive.
And it’s not just us – this is from our speech therapist:
Hi Jenny,
That is so awesome. In my clinical experience, when I have overlapped my sessions with OT sessions, I have observed an increase in language some of the time. The reason being is that a sensory need had been met allowing the client to concentrate more on language.
Today, in my session, she said, “Wawa”, “sss” for “yes”, “ah” and a “ba” sound when working on verbally imitating “mom”.
For receptive directions, I used 3-D objects (or actual objects) in a field of 2 and Maggie correctly touched and/or grabbed the object asked for in 8/10 trials. It was great!
Deandra Schmidt, M.S., CCC-SLP
Speech Language Pathologist SP 15211
Advisory Board Member for CSHA District 7
EEG results
So the results are in.
She is not currently experiencing seizures, but she did show some “disruptions”. All that means is that, as expected, her EEG was abnormal and she is at risk for seizures. This doesn’t really change anything from what we were told we were going to hear, it just changes from what we were secretly hoping to hear. We’re also being told that there is no additional medical concern about seizures. As long as she’s safe and can’t fall down or whatever, it doesn’t cause any medical issues, it’s just annoying.
It is still altogether possible she will never have seizures, we just have to keep an eye out, since it’s still possible she will. Though, maybe those “disruptions” were her just dreaming of the cure, or of dragons and unicorns. Probably dragons and unicorns.
Baby’s first EEG
A whole lot of screaming getting connected to the machine, but she ended up exhausting herself so she fell asleep as they had hoped. The EEG gave the doctors no immediate cause for concern but we won’t know the full results until tomorrow or even later, so anxiety will continue until then.
More testing. More problems.
I think Jenny and I have both been reticent to admit the nerves we’re experiencing. Maggie’s EEG which was scheduled months ago has finally arrived. We go in on Monday. While we were told it is very likely to be abnormal, as all girls with Rett have abnormal brain scans, we’re both hopeful, maybe Maggie is the exception. I think we’re trying to force that emotion down as neither of us really wants to deal with a disappointment, since this is one we wouldn’t be able to fix with the power of our will.
On top of that stress, it feels like we’re losing the battle with her arms. It’s heartbreaking to watch. While I haven’t admitted defeat, and hopefully never will, I’m watching it happen and the experts are saying it’s more or less inevitable. We have to be in the very small minority in order to stay the course of this thing. So there’s something to hope for, but watching her lose control of her left arm as it repeatedly taps her chin, sometimes finding its way into her mouth, is hard. I imagine it’s hard for her, too. She knows what’s going on with her. She knows she can’t stop her right hand from wringing. She knows her left arm makes repetitive motions constantly. She’s trying to control it, but she can’t. In November these movements were barely noticeable, but now they are constant through her waking hours. Bracing only has a temporary effect, and we’re doing all we can. We just haven’t found the right concoction of treatments yet. We’ll continue to look.
She’s starting to show some oral motor issues as well. Maybe she’s just sticking her tongue out to show it to us. Maybe she’s just trying to say “na-na-na-na boo boo”. But, maybe it’s Rett. And I hate saying that. I hate accrediting anything to this thing. If I didn’t have this thing to blame, it’d be easier to will this thing away, I think.
I also started working again this week. While they’ve been flexible and are generally ok with me working from home when I need to, it’s been tough being away from Jenny and Maggie.
I don’t know. Been a tough week.