We have been told numerous times, “We are so close to a cure.We are so close to treatment for Rett.” We have had so much hope for a cure, but even a treatment, something to abate one of her symptoms would be transformative for her. Before Covid, there were multiple trials going on and more about to start. The excitement about the advancement was real and palpable. Then the world stopped. Everything halted. While the world coped with the Coronavirus, we had the added bonus of coping with the complexity and halting of trials for Rett Syndrome.
While parents tried to cope with homeschooling their kids and what risks they might be willing to take, We coped with homeschooling, home therapy and worries about what Covid might do to immune compromised kiddo like Maggie. We faired pretty well, but then a few bad days would happen and our minds would wander into the “what if”. What if trials don’t start back up? When they do, what if it’s too late for Magnolia?
My mind can spiral pretty easily when it comes to hoping for a treatment or cure and what it would look like for her. The reality is, I want it all but I would take just one thing, one symptom to be relieved. What would it be? I think at first thought most people would think I would ask for Maggie’s seizures to stop, for awhile this may have been true. With seizures though, they can be managed, its really about trial and error. A very scary trial and error but after 3 years of hospital stays, ER visits and immense stress, hers are finally in control. Next you would think I would want to relieve her breathing issues, for the past 4 years they have been a constant source of distress for her. Most days alternating between hyperventilating and breath holding until she turned blue and on some of her scariest days her lips would turn black while she seized and stopped breathing. Depending on the day, I would have asked for those symptoms of Rett to be relieved.
As for Rett Syndrome the list goes on with symptoms that have severely impacted her life and well being. Over the years, I have always come back to one symptom. I would ask for hand function. Full hand function and capability. I know that seems odd, especially since Maggie is nonverbal. Why wouldn’t I ask for speech? Honestly, its a close second, but I’ve thought about this immensely. If I could give her one thing, it would definitely be hand function . Let me explain…
With hand function, she would be able to communicate. We would all be able to use sign language, or even an AAC touch device.
With hand function, she could play, truly play with toys, draw pictures, color, all of it.
With hand function, she would be able to fully participate in school., raise her hand.
With hand function, she would be able to open doors.
With hand function , she could truly choose her clothes and dress herself or undress herself.
With hand function, she would truly have choice and more independence.
With hand function, she could protect herself.
With hand function, she could have more privacy.
With hand function, she would have her dignity.
With hand function, she wouldn’t need to be watched, protected, or helped 24/7.
Thankfully trials are starting back up. I still have hope for a cure. Although, I’ll be happy with any relief from Rett Syndrome but hands down, I hope for hand function. No pun intended.
Everyday I am reminded my daughter is beautiful just as she is. Though I’d be lying if I I didn’t say, I long for the day that she holds my hand instead of me holding hers.
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.
I wanted to put a go pro on her and show what it’s like to be Maggie. This was supposed to be a follow up to the communication video from last week. It was supposed to show how engaged she needs people to be in order to communicate effectively with her. But the video showed something different than what we could have expected.
Maggie is essentially a perpetual motion machine. She spins and runs everywhere. Or she’ll lie down and rock. However you slice it, we’ve always thought she was in constant motion. I thought this video would be dizzying. Like Cloverfield without the destructive face eating spiders. But, watching the footage, I realized she doesn’t run around constantly. She is deliberate. She is thoughtful. She communicates her wants if you pay close enough attention. Watching the footage from her eyes gives us a greater sense of what she’s thinking.
I stretch her feet, she falls backwards. Maybe it hurts?
Each step down the stairs really does feel like falling. Maybe it’s more frightening than she lets on?
When I leave her sight she freezes. And until she sees me again, she seems anxious. Now we know – we should be giving her more information about transitions – what’s happening next, what should she do in the meanwhile. Maybe that will help her more than we would have thought?
I thought this was going to be dizzying. And it was, but only in how it showed how much more we still have to learn about communicating with her.
Last week, Jenny and I wrapped up our formal fundraising efforts for this year. Our friend, Jaime Morgenstern, who runs Gilt City events gives us a booth and donates some money to RSRT. They also donate a bunch of liquor and wine for future Rett Syndrome events. It’s very generous and we’re grateful she thought of us when the opportunity arose.
But it also reminds me that people like yourself keep donating and don’t necessarily know for what. I mean, you know that you’re donating to a cause that’s important to us. You know that Maggie is cute and shouldn’t have to suffer. You know that a cure is possible. Maybe that’s enough for you. Either way and whatever the reason, we’re so immensely grateful for you.
Living in this no man’s land between Rett Syndrome and a cure can make people feel stuck. It’s hard to push forward because you don’t know whether you have to prepare for Rett Syndrome to get worse, or if the science continues to progress as it has and that sooner, rather than later, Rett Syndrome will be all gone. But the regular flow of donations and well wishes certainly helps alleviate some of that feeling.
But what good is your money doing? Where is your money going? The short answer is your money did some amazing things in 2015 and if you donated through Magnolias Hope every dollar went to research.
Looking a bit closer:
There have been 31 clinical trials for Rett Syndrome according to clinicaltrials.gov, 13 of which are still active or recruiting.
That’s 31 chances for a treatment or cure possible because of your support.
The gene therapy consortium is only half way through its program and results have been encouraging.
There are dozens of grants that have been made for pre-clinical research that someday soon could lead to a clinical trial.
At least two new clinical trials will be starting in 2016 with at least one trial moving into a phase 2.
It is altogether possible that within just a few year’s time, should these trials continue to net fruitful results, a real, viable treatment, will be in our hands and Maggie will start the road to recovery.
It’s also possible that nothing happens. It’s possible that none of these trials or efforts works out and we have to start over again. That’s why your support is so important. That’s why we keep fighting. It’s not a foregone conclusion that we have already cracked the code, nor is it a foregone conclusion that Maggie will have to deal with this disability for her whole life. We’re stuck in the middle. But we won’t be forever.
The progress is real.
The hope is real.
The gratitude for your support through all of this is real.
We’ve talked a lot about hand over hand exercises on this blog and have assumed that most people reading this go “oh yeah, I know what that means, I do it all the time.” But I realize I wouldn’t have prior to needing a word to describe what it is we’re doing.
You see, we continue to watch Maggie’s hand and arm use change. Her right hand is forcefully pulling her thumb through her fist constantly. She can’t control it nor stop it and without constant bracing at this point she gives herself callouses and blisters.
Her left hand taps her chest, stretches outward, then sometimes taps her chin. Also, more or less constantly. At least, that’s what it is now.
I watched some old videos recently – always a hard thing to do since I always recognize how far she’s come, both positively and negatively. In this case I noticed how much more her arms are moving now. It’s almost impossible for her to control now. Pressure, compression, bracing, heavy work, are all things we do, but where she used to be willing to hold herself up with her arms for a minute at a time, that amount of time has decreased pretty significantly. I’m lucky if she’s willing to hold herself up for 10 seconds now, and even that requires a lot of assistance.
As a result of all of her troubles with her hands and arms, everything we do has to be hand over hand. That means we have to hold her hands and manipulate them to do the task at hand. While she can still grab a pre-loaded fork we’ve even needed to help her much more, of late, with that, lest she drop the fork and food, or miss her mouth entirely. She wouldn’t independently decide to pick up that play dough, or bang on that drum, or pick up a puzzle piece without us holding her hands and helping her to do it.
Helping her do it is an important distinction. I mentioned in this video that I was making her do it and you can see, she’s not happy about that phrasing. In her mind, and ours as well, she’s doing it, we’re just helping to guide her hands.
Sometimes she tolerates it and is even grateful for the help – notably when she does arts and crafts, or swings a baseball bat. Sometimes she’s furious about it.
Regardless of how she feels about it – it’s necessary to get her to do typical age appropriate tasks. And doing those things is important because it creates muscle memory, builds experiences, and it’s obvious that she appreciates being able to do things. But most importantly, when she’s cured and we ask her to do something she’ll say “oh yeah, I know what that means, I do it all the time”.
Rett is a progressive disorder – it will get worse and worse until there is a cure. In other words, we are never out of the woods. Every girl’s Rett syndrome is different. These were Maggie’s Rett symptoms last year.
Maggie has lost her speech.
Maggie’s arms & hands have Parkinson’s like tremors.
Maggie hasn’t lost all hand function, but she has lost enough.
Maggie’s right hand constantly wrings so she wears a glove to protect herself.
Maggie’s left arm constantly hits her face, so we brace it to protect her.
Maggie has had a few Rett Episodes, which are similar to seizures but not seizures.
Maggie has GI issues.
Maggie’s body temperature has a hard time regulating.
Prone to respiratory infections.
Visual sensory processing disorder
Sensory processing disorder, proprioceptive and vestibular.
Maggie has Global apraxia, which is difficulty with motor planning. Motor planning incorporates every motor skill. Walking, climbing, eating, playing,etc.
Maggie can still walk, run, jump, follow directions, smile, laugh, play, swim, climb and eat by mouth.
Everyday she works hard to keep the skills she hasn’t lost and to regain those that she has.
And Maggie is considered mild for Rett
This past year, Rett did progress. Maggie lost more hand function, we are a moment away from full loss of function. Maggie now drools more often and has tongue thrusting. She now has more anxiety. She has breathing problems, holding her breath for short periods of time and hyperventilating with regularity. Maggie has also had several seizures, right now they correlate to when she is sick. Her right arm is also very stiff – which may be the beginnings of dystonia…tbd
This is Maggie’s Rett and what she deals with everyday. These are other symptoms typical of Rett that Maggie does not yet have. But as it progresses, we may have to deal with them as well.
Scoliosis, fragile bones
Impaired Cardiac problems, potentially causing sudden death
Difficulty walking, leading to wheelchair
From the moment we get up to the moment she falls asleep, we help her fight for her skills. Maggie is a fighter! Rett keeps knocking her down, but she gets back up. This is why we fight for her. For a cure.