I’ve learned a lot of things the past few years dealing with Rett Syndrome. First, every time I write Rett, it gets auto corrected to Rest, which is hilarious. I wish she had Rest Syndrome A syndrome where everyone is well rested, sounds amazing.
Secondly, Magnolia’s perseverance is unwavering. Every once in a while, I’ll sit back and think. We got this. And we do, but then we get thrown a curve ball. Seizures were a big curve ball. This past year of seizures has been infuriating. I hate to say this, but seizures take Rett to a whole new level.
The first few months with seizures, I believe I already talked about. They were very scary, our lives were spiraling out of control, emergency rooms, ambulance rides, scary phone calls, life or death became the norm. Then we got the seizures under control. Then the problem was, her medicine. Maggie was on a seizure med called Keppra. It helped her seizures and gave us all some relief, but then the side effects took, well effect. She became extremely irritated, emotional and dare I say, rage. We had frequent moments, where I would have to pin her down, while she clenched my back or neck and dug in with her fingers, she would bite my shoulder and scream. Googling Keppra side effects, keppra rage was a recurring theme. Maggie had it, and we wanted it to stop. The doctor agreed, but we couldn’t stop her meds, her seizures were uncontrollable with out it. So we had to put her on a different medication, while slowly weaning her off of Keppra. It took three months to safely wean her off of this medication and get it out of her system. When the drug was completely out of her system, we could tell a big difference. We went from rage back to our vibrant Magnolia. It seemed, we finally had her back, well Maggie with seizures.
We spent the next couple of months getting the dose right on her new medication Topimax. Topimax was finally working, but I noticed some different side effects. Some hair thinning and exhaustion. Since these side effects were better than rage, we’ve stuck with it. We started giving her some Biotin and that helped with her hair. Its a constant balance with her exhaustion though. She naps, we diffuse oils to wake her, give her snacks, anything to keep her awake enough to do school and therapies. We’ve learned to manage.
A few months ago, Maggie’s seizures increased. Her doctor increased her medicine, not much, but enough to stop the seizures. Then we noticed, she was having a harder time using her eye gaze computer. She was using it less frequently. Where, she used to interject a comment or two into conversations that were happening around her. She now barely tells us what she needs unless we insist upon it. Before the medication she was starting to build sentences, structuring two to three words together. All of a sudden, it was gone.
The hardest part sometimes is noticing something new happening with her, it is usually gradual. So when we realize it, we realize how much she has been struggling. Of course, in the past, there were days she used her computer a bunch, then other days, not as much. This is different. Its watching her language disappear, again. Its frustrating, for her and for us.
She is learning to read and write, but we have to force her, its taking longer and by the end of most days, I’m at a loss for her. I tell myself, as long as she is happy, we will keep moving forward, pushing her to communicate, to do whatever she can. I’ve been positive this has been going on since the increase of her seizure medication.
Well, the past two weeks we have seen an increase with her seizures, but not just that, her GI issues are all over the place and her breathing is worse. At first, I thought it was because we had traveled to Florida, travel tends to cause seizures because of exhaustion and dehydration. I spoke to her doctor and she agreed.But here we are two weeks later and her seizures have increased. So now we wait, I have a team of three doctors trying to figure out what we should do. Shelly and I brainstormed today anything we could think of that could be causing the increase of issues.
Then I spoke with her Epilepsy Neuro at CHLA. We discussed everything that has been happening. I mentioned that Maggie wasn’t using her computer as much. Right away, her doctor says, “That isn’t what we want happening. We will lower her dose.” I was floored, Maggie’s seizures have been increasing but we are lowering her dose. So I did it. I had to trust that if something bad happens, I can take care of it, Shelly can take care of it. Maggie will be okay, we will make it to the hospital if we need to.
The first day I lowered her dose, we were on high alert for more seizures. None happened. Know what happened though? She used her computer all day. She was more alert and happy. Its been a week and she hasn’t had a seizure, she has been doing more. grabbing for things, pushing herself to do more, on her own volition. Life is strange sometimes. Life with Rett is an emotional rollercoaster. A lot of times, things don’t go our way. This past week did. I had prepared myself that I may have to save her life if she has a big seizure, since she is on less medication. Not because I’m neurotic but because its just our reality. Instead, we had a good week.
She is so smart, funny and cute, like any other 7 year old. This past week, she has told me on several different occasions she wants a dog. Then she spelled the word “ocean” with a “C”not a “Sh”. She misses her dad, she wants to go surfing and she is over Frozen. She has a lot to say. Hopefully she continues to be able to say it. I need Rest Syndrome.
Not kidding. This is Magnolia at Speech Therapy the day I lowered her seizure medication dose. She was so happy, using her computer. 🙂
We have been homeschooling Maggie this year, for various reasons – mostly, because she had a rough year last year. She was constantly getting sick, which in turn caused more Rett symptoms, and though she has fought so hard to gain back her strength, balance and walking ability, being at home has allowed her to focus on therapy and helped her get back to her old self. Of course, Rett is progressive, so now we have new symptoms she is dealing with on a daily basis. Her breathing, seizures, drooling, anxiety and some balance issues seem to be hindering her the most right now. So sending her to a classroom is very stressful for everyone involved.
Right now, Maggie has school at home through an online classroom. Shelly assists her during class, they really have become quite the duo. Of course, AJ stays up late every night to program her eyegaze computer with the next day’s classwork, so that Maggie can be as involved as possible.
So that is what we’ve been doing. It’s been working, we’ve been pleased by her progress. Then a few months ago, the school district called and offered Maggie to attend a satellite campus for homeschooled kids. At first we said, no. Then we realized Maggie is doing well, we should try it.
So on April 11, AJ took Maggie to school, Shelly met them there to be her aide. AJ introduced her to the classroom of kids. He explained Rett syndrome and discussed her breathing issues. A little boy in the class immediately says to AJ, I think she is having problems breathing because it;s her first day. AJ said, that might be. The way I imagine it, a single tear of joyful innocence rolled down his cheek as he said it. After a few weeks, we’re convinced Maggie loves it as she screams joyfully and skips as she pulls AJ to the classroom. Shelly is with her, so she is safe and is able to communicate. There was even a little girl who went up to Maggie and said, “Maggie, you can be my friend.” And when I heard that, my heart exploded a few times.
Turns out this is the perfect situation for Maggie right now. Two days a week she goes to a satellite campus, then to therapy. The other three days, she is homeschooled and also goes to therapy. It allows her flexibility, socialization, and the security and comforts of home. We are hopeful we can continue her education this way, for awhile. From the way it seems, she is as well.
I wrote this post last week and this week is her final week in the class for the school year, but she is unable to go. Maggie was has been hospitalized twice in the last week and will be resting at home this week. At least there is hope for next year. We know we like this program, we are hopeful that it works out for her.
After witnessing Maggie’s struggles with communication, I’ve become more aware how complex communication really is. People who knew her when she had access to a few words are still, as are we, confused about how it can be there and then next thing you know, just as easily, be gone. That’s a regular point of confusion about Rett Syndrome – How does a regression happen at all?
In describing it recently, I think I stumbled on a simple way to explain why/how something like that would happen. I’m putting this caveat in here: I made up this explanation. I used no science or journals or peer discussion. This is just a regular guy inventing some way to describe regression to people who don’t think about it all the time like we do.
Make sense? Cool.
This illustration is not based in science so much as it’s based in my understanding of the science. In other words I’m not an illustrator or a scientist. But, as I comprehend it, a typical brain has typical neuro pathways and a typical amount of them. I drew them as squiggly because they are basically electricity which is basically lightning bolts.
A stroke victim would have started out with typical pathways but the stroke would have broken some of them. So, a stroke victim will have to train different pathways to accomplish the tasks the old ones did. A stroke victim’s neurology looks a little like Weird Al Yankovic in my illustration.
One issue they’ve recently uncovered in Rett Syndrome is that there are faulty pathways which I illustrate as extra, superfluous pathways. That makes it very difficult for the information to make it to the intended target. That is my explanation for why sometimes her body works, sometimes she can muster up a few sounds, sometimes her hands and arms are calm, and why when there is a cure the symptoms would be reversed – because all of those extra pathways will disappear. It’s also my explanation for how regression works. That before all of the extra pathways are created, there are a normal number of pathways, allowing that early stage development to be more or less typical. But as she got into higher learning, the extra pathways muddy the communication from her brain to the rest of her body.
Understanding that explains why communication is so complicated. To speak requires her lips, respiratory, memory, tongue, vocal cords, and more. To control each of those things, her brain would need quick, easy access to pathways that are muddied up so significantly it becomes near impossible.
It also explicated why therapy can be so effective. In stroke victims, therapy retrains new healthy pathways to accomplish the same task as the previous pathways did. It’s not always as effective because it’s not always what those pathways were intended to do, nor is it necessarily the only job those pathways have. In Rett Syndrome, similarly, forcing a pathway to work takes a lot of time and a lot of repetition and a lot of effort.
Some day there will be a medication that will make that retraining much more effective. Until then, we keep going back to the drawing board.
We’ve talked a lot about how great the Tobii is and how phenomenal it is to hear her thoughts. The thing that we don’t really talk about is the limiting nature of it as well. The amount of words she has access to is limited to the amount of time we have to program it.
Currently she has access to a vocabulary of about 250 words. She knows well over 10,000 I’d imagine. It’s not fair to her, but finding the time to program every night is simply impossible. And with over 100 pages to keep updating, it’s daunting. I realized today that she has no way of saying “I’m 5 years old.” She can only say “I’m 4 years old” because that’s how it’s programmed and I haven’t even thought to open that page to address it since well before her 5th birthday over 2 and a half months ago. There are songs she can select she hasn’t sung in a year, foods she no longer eats. The initial setup took about 2 months. The maintenance is forever.
And it’s Windows based! Everything runs slow, takes too long to load, and simply isn’t that intuitive.
It’s frustratingly tedious to program the machine, but it’s even more frustrating for her to be unable to use her words. I hope there will be an easier automation tool in the next version, or maybe she’ll get so frustrated she’ll start programming it herself. Now that would truly be phenomenal. But until then, I’m left with her needing to outsmart me and the machine:
You. “Can’t”. Understand. All.
We’ve been trialling a different eye gaze computer for the last few weeks. Susan Norwell, one of the respected experts in Rett Syndrome communication, came to visit and gave us a real kick in the pants – in a good way (video forthcoming). We’ve become very adept at reading Maggie, understanding what she wants, understanding what she needs and avoiding meltdowns. Of this we’re proud. 25 minutes into Susan’s visit, Maggie was starting to fall apart – arms waving, body shaking, crying, the whole 9. We did what we typically do, sing songs, feed her, whatever we can think of, or whatever we think might help. Susan, rightfully, observed we were just feeding into her behaviors. By giving her everything she wanted or needed, she wasn’t compelled to use her computer to communicate. We’ve felt like we were disciplining her at times. But it’s also hard since, without her being able to talk back, she still acts and responds the way a 2 year old would. We just have to remember that she’s not. Her body may not work and her voice may not work, but her brain works fine. She is smart. She needs everything a typical 4 year old needs. Including discipline. So now, we have to force her to communicate, and while it will be hard for us, let her cries motivate her.
Susan trained us on the next step of the communication device. It’s called Sonoflex and it’s the beginning of sentence structure. Right now all we’re doing is modeling – that means, essentially, we just talk to her using the device instead of using our words. Much the way any kid learns how to speak, Maggie will learn how to use this. To me it seems crazy – it seems like we’re constantly teaching her new languages. Now instead of 12 options on a screen she has almost 30. And the amount of things she can talk about is drastically increased as well. And despite the assurances, and her success on the previous system, I didn’t really know how long this would take.
So we’d go about our business of talking using a touch screen computer. We started talking about our plans for Memorial Day – how we’d be going to the beach, playing in the sand and going swimming.
Maggie selected pail and shells. I asked her if she wanted to collect some shells in a pail. She confirmed that’s what she wanted to do. I had my doubts that that’s what she intended to say. I mean these devices are amazing, but they’re not necessarily reliable. We’re never really 100% that she means what she says. Plus, with her limited hand use, collecting shells has always been both an impossibility and a cause for regret.
But she said it, so when we got to the beach, I passed her a pail which she held in her right hand, an impressive feat in and of itself, considering she almost never carries anything in her right hand and then we scoured the beach for shells.
She had the best time – and sitting there showing her shells and asking if it was worth keeping or not…it’s indescribable. Jenny cried. My heart was full. And all because we started forcing her to do the thing we want most desperately for her to do – communicate.