A Body Bound by a Brain #3

boy and girl.jpgOh, don’t us parents, all of us, just get so excited when our babies pass milestones- the first smile, the first laugh, the first time rolling over, the first step, the first word. The first word. That brilliant first word, not just mama or dada, a real first word. For my oldest it was apple, for my youngest it was mogicydle (motorcycle for those who don’t speak Sean baby speak,lol) and for Katie it was DOUGH (Go for those who are wondering); I would hold her swing up and she would say “dough” and bounce a bit in the swing so excited. Sometimes she would throw her head back a bit. And this would be followed by “nigh, nigh”, “mommy”, “daddy”, “kitty”, “ball”, “bubble” and the last one was “ight” for light. She was just turning one.

And then…they went away. One by one. I remember the very last time she said “mama” (no more mommy). I was outside talking to someone and she was at the screen door calling for me, “mama, mama”. I remember it because I made myself remember after I hadn’t heard it in awhile, “Now when was the last time?” and I recalled it and I kept it. I drew the picture of it over and over in my mind, recording the sound of it, listening to it over and over in my mind until I wore it out I guess, because there came a time I couldn’t recall the sound of her voice. But, I never forgot the scene. That was seared into my brain.

And then…they were all gone. Does it seem like such a loss? Not even ten words-replaced by screaming or nothing; no babbling, no laughing, no giggles. It was screaming or silence. I never did figure out which was worse.

Let me try to explain to those who cannot comprehend what is happening at this age. In essence it’s almost like they had a stroke, not that they did, but it’s the closest thing I can think of to compare this stage to, so that people might understand. Think of your grandparents who had strokes and could no longer talk, though they remember being able to, their brains just won’t let it happen.

Our children regress, they lose their skills, they can no longer speak, BUT they are trying to. Their brains are firing all the right signals. They hear everything around them. They UNDERSTAND what is being said at age appropriate level for the most part. They hear us pleading with them to try, just try, come on you can do it, because at this age we have no clue what is going on. Can you IMAGINE being pleaded with to just say a word, just one and your brain is trying but it just can’t make it happen? Can you even grasp how frustrating that must be?? I can tell you that it is so frustrating that my child screamed for 6-8 hours a day at this age. She banged her head, bit herself until she bled. She wouldn’t look at anyone, yet couldn’t be alone, the sound of a door closing would send her into a panic attack, she became claustrophobic. She hit us, bit us, pulled her hair out and pulled ours. It was horrific and if you ask me how I survived it, I wouldn’t be able to tell you because it lasted for years.

Maybe right now you’re saying to yourself, “wow, all that screaming must’ve been so hard,” and you’d be right, but you know what’s even harder? Not knowing why your child is screaming. Are they hungry? Are they hurt? Is their bowel twisted? Where is it hurting? Is it the ears, the throat, the belly? Are they frustrated? What do they want, what do they need? “What” fills your mind as you start down your list, in order of probability. Every parent has one. They’re not the same order, but I can all but guarantee we all have the same things on our lists, give or take one or two things. When you get to the bottom and you haven’t got it figured out… to the ER you go. When Katie was 5 she fell off a swing, she cried and cried. I just figured it scared her. She wasn’t screaming in pain, she just cried (Rett children, in general, have a high pain tolerance.)  At 5 years old most children would just tell you what hurt, but not my girl. Turns out she broke both bones in her right arm, and she couldn’t even point to where it hurt. This is so common a thing, that it is literally my worst nightmare, that something serious will be wrong and I won’t catch it in time. I doubt that I am alone in this.

You see, you may be saying so what if those kids can’t talk, let ’em point to what they want. But, did you forget? Our children can’t really use their hands. They can use their eyes, though, so we watch those eyes like hawks. And some children are learning to use AAC; Assisted Augmentative Communication and doing a bang up job of it, too. But it isn’t easy and it’s not the same. It’s not like a voice that you have right at your disposal, it has to be set up, the child needs to be near it and of a mind to use it.

Now, Katie is 24 and she has beaten the odds against Rett syndrome in many ways. She regained her hand use to a fair extent, she can still walk, and she regained some language (about 100 words and phrases) and eventually surpassed what she had learned before she regressed. This is a miracle and I know it. To put it in perspective, because of those few things, that she can’t even do as well, as long or as much as even a child, this puts her in the top 1% of children/adults with Rett syndrome. Still can’t tell me where it hurts, though. Or what she wants for supper, or that she’s cold, or too hot.

I am one of the very, very few lucky mothers that get to hear the word “mommy” again. I don’t take a single syllable for granted, not one. I want that for all the mommies and daddies out there, many who have waited a lifetime for just one little word. And, I know it’s possible. I KNOW it. Because once, Katie was in a trial. Sitting by a handsome man, she looked up at him and said as clear and correct as could be- “You’re a cute guy!” My girl is a flirt, no doubt about that. She wants a phone when she can talk, and a car; a black one. I told her yes to the phone, no to the car, lol. But, you see, she understands what is possible, she’s been waiting a lifetime too and so have a lot of other girls and boys.

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Posted in anxiety in Rett syndrome, boys with Rett syndrome, Communication, cure, Neuren Pharmaceuticals, NNZ-2566 trial, Phone, Rett Research, Rett Syndrome, Rett syndrome Awareness, rettland.org, rettsyndrome.org, screaming in rett syndrome, Talking, Trail to a Texas Trial, Trofinetide, Trofinetide Pediatric trial, Uncategorized | Tagged , , , , , , , , | 1 Comment

A Body Bound by a Brain #2

  • Borg or Oompah Loompah?You can feel it, when you’re right there. A quiet rumble at first, but within a blink of an eye, your world is shaking. It’s like time stands still, every second feels like a minute; and then, if you’re lucky, it stops. There are after shocks sometimes, not quite as severe, one little shake here and there. And then you can breathe. You have survived another seizure of your child.

There are many, many parents and people who deal with seizures every day, due to many reasons-epilepsy, TBI, fevers, illness. Rett syndrome sufferers are not the only ones, so I say this knowing there are millions of people around the world who must watch their loved ones go through this. It’s horrific, it never gets “easy”, but like so many things related to Rett syndrome it never really gets “easy”-it gets managed.

By the time Katie had her first seizure at around 3 years old, I was ready, HAHAHAHA. Whatever. I had been a Navy corpsman, I’d seen seizures, knew what to do, what not to do. I had asked for an EEG because I had read that Rett children start seizures around this age (since Katie was born before testing was available, her doctors didn’t believe she had Rett syndrome), her doctor was shocked that it came back positive. Within two weeks her first seizure struck. I don’t recall the day we got the test results like a lot of parents, but I remember her first seizure like it was yesterday.

We were at McDonald’s. My young son, Katie and I. She was in a high chair. I had just given her a bite of French fries, my son asked me a question, I answered and turned back to Katie. It was so silent, that first seizure. She hadn’t made a sound. Her head was thrown back and her arms and legs stiff and shaking at the same time. I grabbed the high chair so that it didn’t fall over. When it was over I grabbed her out, pulled my son away from his unfinished meal and WHAM seizure number two. I held her shaking body, felt it deep down in my soul, every spasm, every twitch-this body that hardly ever did anything at all was now in the throes of every muscle moving. And I thought I would die from the agony of her pain. Thankfully, that was it for about two weeks and then they hit again.

Now, she was officially no longer seizure free. We started her on Tegretol, with the warning….sometimes they get worse before they get controlled. I already understood the phrase “Status epilepticus,” knew it could be life threatening. What I didn’t realize is that my child would have it, and nothing really prepares you for that. I know now that we were lucky, that after 18 they stopped. I know now that some parents watch their children go through it for so much longer that I can’t imagine how their psyche survives it. But, for Katie and I out of all that darkness came a miracle moment, how and why I don’t know, and she being on some heavy medication, too; but she spent the ambulance ride going “ba, ba, ba BEE; ba, ba, ba BEAR” over and over. There I was scared to death I was going to lose her and she’s higher than a kite and talking. I didn’t hear the word “BEE” for almost another 20 years, during the Trofinetide trial, and I’ve not heard “BEAR” since.

Katie was hospitalized only once for seizures, put her two episodes of status epilepticus (18 one day, 16 another) had long term effects. She became temporarily paralyzed on her right side. And even though she hasn’t had a seizure in 17 years, her right side was never quite the same; it’s hard for people who aren’t trained to see it, but the difference is there. I am in awe of parents who go through it over and over and over and still face the day.

Katie’s seizures lasted 4 years. Why she stopped having them, I’ll never  know. And like her first one, I remember her last one. She had a cold and her fever shot up from normal to 104 within a half an hour-seizure. She was lying on the couch; I gave her Tylenol and Motrin, cooled her off with a wash cloth, and that was it. She never had another one.

Still, her body remains bound by her brain in so many other ways. One day, one way or another, though, I believe she will be free.

Posted in Neuren Pharmaceuticals, Rett Research, Rett Syndrome, Rett syndrome Awareness, seizures in Rett syndrome, Trail to a Texas Trial, Uncategorized | Tagged , , , , , | 5 Comments

Neuren Gets the Green Light!

green lightWell, I was NOT one of the first to get to social media today with the fantabulous news that Neuren has got the go ahead to do a Phase III pivotal trial with Trofinetide. I apologize, it was a day where Rett syndrome didn’t exactly “win” but sure did add some interesting twists and so, while I knew, I had no time to share the news until now!

 

So, for those who haven’t seen the announcement yet, here you go! Click here!!

Now, the inevitable next question is WHEN?!?! All that can be guessed is it will be next year, which is right around the corner, so within the next few months we will most likely get staggered info like who to contact to show your interest, then probably what the criteria is, or maybe the other way around; until at least that is known, there’s no guessing an approximate date. So hold on to your horses, even though we are all chomping at the bit.

It’s a great bit of news to get in October-instead of just having to be aware of Rett syndrome, Rett syndrome has to BEWARE! We are hot on it’s trail.

Thank you to Margaret Brimble for finding Trofinetide and thank you to Neuren and its shareholders who continue to believe in this drug and who, in their hearts of hearts are sure to want our children to be helped as much as they want to make a killing in the stock market 😉 It’s a win/win you know. We’ll all feel like we’re rich beyond our wildest dreams and they will be rich beyond their wildest dreams, lol. I have faith that scenario is written in the stars.

Thank you to rettsyndrome.org and all the researchers and everyone who has donated their expertise, time and money so we could get to this stage.

So, people we have a go. When the time comes to commit to our children being in the trial, let us be brave, to dare to dream and go into that wild, unknown frontier known as the brain and find the path that will get us through uncharted territory!

 

Posted in cure, FDA, hope, margaret brimble, Neuren, Neuren Pharmaceuticals, Rett Research, Rett Syndrome, Rett syndrome Awareness, rettsyndrome.org, Trail to a Texas Trial, Trofinetide, Trofinetide Phase III, Uncategorized | Tagged , , , , , , , | 2 Comments

A Body Bound by a Brain #1

 

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The hands of Rett syndrome

When people see a young child with Rett syndrome, parents often get “they look normal.” It’s almost like a question, as if questioning the parent that they’re child is actually disabled. It’s a weird sensation in that moment-there’s nothing more that you want than for your child to be “normal” but then their comment has put you on the defensive, makes you angry, it truly makes you want to scream at them, “Yeah?! Well do YOU EVEN KNOW how cute it was when she would say “dough” for go, or mama. DO YOU KNOW how long it’s been since she said THAT, THAT’s all I want to hear, mama, is that too much to ask?? But you know if you start, you’ll look like a raving maniac, so you just turn away, hug your baby closer, and the tears that slide down their cheek are yours.

 

Because really, your child is far from “normal” any more, all because of one tiny mutation on one stupid gene, something that can’t be seen with the naked eye, that’s how stupidly small it is and yet it’s like the “Road Less Traveled” which ‘made all the difference’, but not in such a good way as that poem implies. Their brain took the road less traveled and it did make all the difference…

It took away their hand use. And that is the symptom I’ll talk about today. No one, unless they’ve been through it, can comprehend watching the loss of hand skills, leaving fingers and hands to be entwined, sometimes always but during sleep. For Katelin, her hand wringing actually began in her feet. Her feet would turn one over the other when sitting and her legs were hanging down. It often took two people to put socks and shoes on, it just wouldn’t stop. And then one day it did and now she was rubbing her left wrist. She rubbed it raw, until it bled. I jerry-rigged a cover by making a wrist sock, like a fingerless glove, and secured it with a youth wrist band. Slowly over the years, her right hand moved downward and now her hand movement is her right hand sliding up and down over her left.

Some children are left with hands permanently clasped, some children are constantly mouthing their hand/s, some flap them, some squeeze them together then yank them apart, over and over. All I know is that their hands are bound by their brain to do this and it’s heart breaking.

There are so many things that are impacted by the loss of hand use that I could list them all day. Can’t feed themselves, can’t hold a cup, can’t color, can’t write, can’t scratch and itch, can’t hug on and on…

So, for those of you who may be reading this and wonder what’s the big deal, so they can’t use their hands… have someone tape your hands together, around the fingers and everything. Now, go get dressed. (as a side note, you can’t talk either). Or, try choosing something on TV, or drinking your coffee. Try telling someone you even WANT coffee. Think about living that way for an hour, a day, a year, a lifetime. I wonder how long before your freaking out and telling someone, anyone to cut that tape off.

Well, that’s what we’re waiting for…the treatment that will unbind their hands and set them free.

Posted in Communication, cure, fund-raising for rett syndrome, hand clasping in Rett syndrome, hope, Rett Research, Rett Syndrome, Rett syndrome Awareness, Talking, Trail to a Texas Trial | Tagged , , , , , | 1 Comment

Putting the “Fun” in Fundraising

All over the country and world people are promoting Rett syndrome Awareness in many ways. There are fund-raisers galore and many ways the general public can participate. In California there are the upcoming SoCal picnic (Oct 21) and the NorCal strollathon, (Oct 14) the Purple Pumpkin Party  (Oct. 28) to benefit Katie’s Clinic, in addition to a huge fund-raiser in Los Angeles, Reverse Rett LA (Oct 13). For locations and information on Strollathons around the US-click here. There are some additional fundraisers listed on rettsyndrome.org’s Event Calendar. 

On Facebook there are several moms who have their own businesses or ebay stores or are consultants for various brands, several of them are donating a portion of their sales to Rett syndrome charities this month. It’s important to share on your own pages so that people other than those already involved in Rett syndrome can participate. Also, sharing on Twitter and other social media.

One of the most visible ways a lot of people are raising awareness, maybe not fundraising but still fun, is painting fingernails and toenails purple. I do this with Katie every year and I get “Cure Rett” written on them, this opens up a LOT of conversations.

Take time to participate in strollathons if you can, they are very rewarding experiences. There are so many fun ways to interact with other families, even if it’s just on Facebook and sharing pictures of purple nails. Rett syndrome is rough, let’s have a little FUN!

 

 

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This is all the Awareness we can Handle for the Day

http://www.democratandchronicle.com/story/news/2017/10/04/fairport-shooting-two-found-dead-in-fairport/730605001/

And now the Rett community is left with questions?

Why?

I guess that’s the only one. Why? WHY?

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It’s Bad, but it ain’t ALL Bad

Tell me-Is she not the same as any other child happy to be on a swing?Let’s just put it in the simplest of terms…Rett syndrome sucks. It sucks bad. And,  a lot of the posts I’ll do this month will be about how bad it sucks. But, today, because there is so MUCH horribleness in the world this week. I’m going to tell you about when it doesn’t. And the thing is, some people will read this and go boy that really sucks! Meanwhile, I’ll be laughing my head off, because, you may not know this, but Rett syndrome parents and loved ones have a damn weird sense of humor. We need it.

First know, We will do ANYTHING to make our kids laugh. We will make fake fart noises, we talk to their favorite stuffed animals/toys. We try ventriloquism, badly, with Barney, or whatever. One of Katelin’s favorite things was hearing her brother get in trouble when he would flick the light switch on and off when she was in the bath, so even if he wasn’t there, I’d flick the light switch and yell and him…Sean, you are so ANNOYING!! Hysterics every time. So, basically, we get to act like complete idiots and stay very connected to the kid in us.

Katelin loves when things break by accident or fall. I have a  video on my phone of her sister, when it plays I will “accidently” drop the phone and say “Oh, NO! Katie I dropped Debbie! Is she ok??” Giggles galore. She thinks it’s funny as hell when I blow bubbles in her chocolate milk and they come up through the lid of her cup. I will do that anywhere.

And that’s just me, Katie is in a class of her own (which she probably actually shares with her sisters and brothers in arms). Like the time she stole nachos off some strangers plate at the fireworks when she was about four. I laughed so hard tears came out of my eyes.

And then there was the phase she went through were she had a thing for shoelaces. Like…I mean a real thing. She’d crawl over to strangers feet and start chewing on their shoelaces. I remember one well dressed man reading a newspaper, I went to go get her and he said…leave her if it makes her happy. So, you see it isn’t all bad, sometimes you meet people with the hugest hearts.

Oh, and the stories we tell each other no one else will understand that send us parents into fits of laughter, choking and crying that would send other parents running from us…these usually involve poop in some way.

Don’t feel sorry for us or pity us. Oh, sure, we appreciate very much when someone reaches out to us. I’ve had people just come up and hug me in public when it’s one of the times that it really sucks. Strangers have given me tissues, helped me with my groceries and one time in particular I’ll never forget….

I flew to California to attend my step-daughter’s college graduation-36 hours total…I get a call on the way back, from my oldest, Katie was in a rage. So there I was for an hour singing to her on the phone, every Barney song I knew over and over, and trying to arrange for her regular aide to get there, occasionally asking things like “did the dvd player break? She pushed the TV over? Did she break the window? Is she hurt?” And somewhere in there it was time to board. And then, a miracle…without a single request on my part during the entire time of what happened next….the stewardess comes to me and whispers…you can board last. I nod. Time passes, it’s time to board. The steward comes and grabs my bags, they lead me to my seat, passengers put away all my luggage (I’m still singing), the stewardess comes and says… the captain says you can stay on the phone while we taxi out…I nod, tears now…my battery is dying…and just like in the movies, right before my battery dies her regular aide gets to the house and the plane is beginning to take off. I hang up. And hands from across the aisle, the seats near me, reach out to hold me. And no one ever said a word, they just KNEW.

So, yes Rett syndrome sucks, but then there are many times words aren’t needed, even in the “real world.” And there are many, many times because of Rett syndrome you see true beauty in the world so many others will never get to see.

Posted in anxiety in Rett syndrome, Rett Syndrome, Rett syndrome Awareness, Uncategorized | Tagged , , , , | 5 Comments