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.
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. 🙂
Last week Jenny wrote about her birthday and the mixed emotions that come with it. This week, I wanted to share a little more detail about that.
5 is an important year for a lot of reasons. In my family there are no more important birthday than the ages ending in zero and five. So, just from the familial traditional sense, 5, being her first of the “important” birthdays is a major milestone.
But with special needs and Rett Syndrome, it is much more than that.
The state funded early intervention therapy programs look at 5 year olds very differently than the under 5 set. The therapies, in the eyes of the state, are less likely to have dramatic impact after the age of 5. They claim that the brain is at its most elastic until the age of 5, and while this may be true, it doesn’t give the whole picture. That theory implies that they won’t be able to help her (as much) after her 5th birthday, that suddenly, her ability to learn new skills lessens. What I do know for sure, though, is that if we don’t do therapies she will lose skills. If we don’t do them, she won’t be able to progress. She will lose strength, focus and motivation. People base their self-worth on abilities and accomplishments – by limiting one, we’re limiting the other and lessening her self-worth in the meanwhile.
I know that if we do nothing, when there is a cure, she will be worse off. I know that when they can fix her biology, if she had never done any therapy, the road to recovery will be extraordinarily hard. When I think about recovery, post cure, I think of someone who has been laid up in bed to the point that their muscles almost atrophy – through therapy they will be able to regain strength, but the longer they don’t use the muscles, the harder that therapy becomes. Yes, therapy makes her life harder now (and ours – driving every which way, every single day), but it will make her life easier in the time to come.
Being five also means she is school aged. While we decided to keep her in pre-school for an extra year to help her develop some life skills – we regularly worry what school will look like for her next year. Do we go for an inclusion program where she will be underserved from a therapeutic viewpoint, but well served from a social standpoint? Do we put her in a special needs program where she will get all of the support she needs, but will not have typical kids to model appropriate behavior for her? Do we put her in a special classroom in a typical school so she gets some services she needs and sees some typical kids sometimes? Or do we home school where we can make sure she gets everything she needs? Lots of questions we have to figure out before she turns 6.
The other thing about turning 5 with Rett Syndrome is that seizure activity increases from ages 5-12, or so we’ve been told. There are certainly exceptions to the rule – some have seizures very early, while a small percent never have them at all. But, if Maggie is going to have seizures, we are now at increased risk. When we get to 12 we will be at increased risk of scoliosis, such severe muscle tightness (dystonia) that surgery may be required to relieve the pain, and a continued fear of sudden cardiac arrest as a result of heart problems or extreme breathing problems.
Maybe 12 won’t bother me so much. At least it doesn’t end in a zero or a five.
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.