Confirmation

So, about the shaking episodes... Dr.  Sasha increased the depakote a second time and I kept a log for two weeks to see if there was improvement. She only had the episodes on 5 out of 15 days, whereas the first update I provided, before the second increase, was that she had episodes on 5 out of 9 days. So Dr. Sasha said to increase it just a little more. She said the medicine is helping. I asked if we were to assume then that they are in fact seizures, and she said, "Right." So, that's that then. Lucy is in fact having seizures. The depakote would not help if they were not seizures. 

Other big issues on our list of symptoms to try avoiding to whatever extent possible is pneumonia and scoliosis. Both of these have more of a possibility of being avoided, whereas seizures, and feeding issues, apraxia, just manifest from the disease. I think Lu has been (mildly) sick twice since leaving school almost a year ago, so we are doing well in the battle against pneumonia. As for scoliosis, we do our best to have her positioned straight, but comfortably as much as possible. No curvature has been detected in her spine so far. 

When I look at pictures like this one: 

I can't help but think back to my oblivious frame of mind at this time in Lu's life, and feel so sad. I guess maybe we did have those 8-9 months where we thought life was going to be run of the mill for her and us, but I can almost never look at it that way. I look at it more like we were fools back then to think that life was going to be easy, or fair.  Even up until a few months ago we thought maybe Lu could be in the small percentage of girls who don't have seizures. And two years ago we thought hopefully that she might also be able to continue to eat on her own. And when she was a year old we assumed she would learn to walk. And on September 27, 2009, when I found out I was pregnant, we never, ever assumed that our daughter would have a rare condition that was going to steal so many things from her. It's hard to not take things for granted when you have no reason not to. 

Speaking of assumptions, I keep forgetting to mention some assumptions that Chad and I would not allow to be made in these past months of trying to determine what was happening with Lu. First we went to the pediatrician who of course said the could be seizures, but he would talk to a neurologist in Danville. He spoke to the neuro on call, who has never even met Lu, and he said that he didn't even need to see the videos we had to be certain that they were seizures, since she has Rett Syndrome. Well, that is malarkey, and a dangerous assumption to make solely based on her diagnosis. As I have said, there are breath holding spells, and "Rett episodes" and all types of other "events" that can happen in girls with Rett besides just seizures. Unfortunately, Dr. Sasha was out of the country for the month when these first began, so we could not consult her. 

When we went to an appointment in Danville with the neurologist that has seen Lu in the past, he too was going to instantly assume they were seizures and just start her on medicine. We said, no, we thought an extended EEG should be done to try and determine if they were seizures. As I have mentioned, none were apparently seen during the EEG. However, when we did finally get up to see Dr. Sasha, she said they just could've missed it since Lucy's brain has abnormal seizure activity all the time. She still wasn't sure, but we trusted her decision to try the medicine because she is a specialist and we always have comete faith in her to do what's right for Lu. And now we know for sure.  But, I don't believe it is in anyone's best interest when doctors just make assumptions based on a minimal amount of information and say, "Let's throw medicine at it!" I mean, the arrogance of that first doctor to say that he didn't even need to see the video! Rett Syndrome is a diagnosis, but it is not a mold that all girls came out of. Everyone is different. 

I guess my point is, don't let doctors push you around! Not about your own health, or your child's health. I think they do that a lot, to a lot of people, because they think they need to seem important, like they are the alpha dogs and we are all just mongrels in their pack.  And I guess another point I tried to make is do your best to not take what you have in life for granted. Back when Lu was 9 months old, the new pediatrician we went to see because we had just moved here encouraged me to NOT have her evaluated by Early Intervention, even though she was not crawling, pushing up on her arms, or bearing any weight through her legs. That was my first experience with saying to myself, "He might be the doctor, but he is not the alpha dog of me and I'll do whatever I think is best for my baby!" And I did have her evaluated, and at that time she (oddly) didn't qualify, but 3 months later, when she still had made no progress, she did. And that was also the beginning of learning what it does really mean to not just be able to assume and take for granted that things in life will go your way. 

Rett Syndrome is a bully. It is the type of bully that is relentless. Chad and I are the type of people who stand up to bullies. And Rett Syndrome is the type of bully who just when you think you have fought hard enough to keep it at bay for awhile,  it sneaks around a corner and kicks you in the face. I have said more than anyone over these last months that I believed Lu's episodes were seizures, but I still had a really hard time getting the actual confirmation yesterday. 

Today's a new day, I'll get over it, to whatever extent a parent gets over these types of things.  It just makes for one more thing to worry about when we go somewhere. It's just one more reason why no one besides my mom and dad can take care of Lu if we want to go on a date, because there is just too much to know and do for people who don't see her everyday. It's just one more thing. 

The Chill Out Chair

 I have mentioned in the past the plethora of chairs that we have for Lu in an effort for her to be: comfortable, upright, or laying down, not falling over,  able to sit on the floor, etc.  A chair also needs to either have a built in way for her to not fall out (ie. straps or a harness), or she needs to be able to sink down into it. It is just extremely hard to find the right seat for her. Her big bean bag chair is great for laying down and napping, but not great for letting her sit upright and engage with the world around her. Her wheelchair is better for times like that, but if she doesn't have her braces on and her feet strapped into the foot plates, then she slides down in her seat. Sometimes she likes to sit on the chaise, but she falls over to the side a lot.  And, when Lucy falls over, slides down, wants to sit up, or lay down, or has any other way she might want to alter her seating position, she just simply cannot. She just can't move her body like that. Therefore, I spend A LOT of time all day long repositioning her. Sliding her up, propping her up, sitting her back up, helping her lay down, it never ends. She doesn't even move herself much in her sleep anymore. Every night before I go to bed I turn her over so she isn't laying on one side, in the same position all night.

So, in what feels like a never-ending search for the "best" chair for Lu to relax comfortably, but still be upright, I discovered the "Chill Out Chair" made by a company called Freedom Concepts, last year. That's right, I have been longing for this chair for Lu for over a year. While it is considered a "special needs" item, it is not necessarily a piece of "durable medical equipment", and therefore it is not covered by insurance, and because it is a "special needs" chair, it has a very high price tag, because that is always the case. Hence, the year of coveting it, but not ever buying it.  

But, with the help of a hoagie sale spearheaded by our family and participated in by many more family members, friends, and acquaintances, we were finally able to buy Lu her very own Chill Out Chair!  And, I contacted the representative for PA and he had a few demo chairs that he offered to sell me for $500 less than a brand new one! I was ecstatic! So, for anyone else out there who also struggles daily to find a better position for their child or loved one (they come in sizes for everyone), I highly recommend a Chill Out Chair. I recommend you contact your state's rep and see if there are any demo chairs available, if you don't mind that. The cover on ours is actually antibacterial and completely machine washable, plus it matches our living room which was pretty lucky! So it's perfect! And if a person would prefer to buy a new one, they come in dozens of different fabrics and colors so they can fit right in with the furniture you already have. 

I don't know if in the pictures you can see what is so special about this chair, but it has a v-shape design that Lu sits down into and the entire thing is made of very high quality furniture foam. So, she sinks down into it enough that she won't fall out, and the foam is like a hug to her, which besides helping her sink in more, it is also like a hug for her, which helps her body stay still. 

And she can even nap in it!

So, I am clearly very excited about finally being able to get this for Lucy. She now has a safe and comfortable seat for relaxing, learning, watching tv, napping, whatever she wants or needs to do! As usual, we couldn't have done it without the never-ending support and love of our family and friends. 

Here is a link to the Chill Out Chair website for anyone interested in checking them out:

http://chill-outchair.com

But...maybe seizures

We saw Dr. Sasha on Friday. After watching several new videos of the shaking episodes Lu has been having and listening to us explain how they have changed since they began, she said it is possible that the EEG reader may have missed something and that they could possibly be seizures. She said that Rett tremors generally happen when girls wake up. Lucy's episodes happen any time of the day and come out of the blue. And speaking of blue, that is the color her lips have been turning during some of them. We bought a little pulse oximeter to see how low her oxygen levels were getting and how quickly she is rebounding. They are getting down into the 70's (below 96 is undesirable) but they are coming back up almost immediately or within just a few minutes, so we don't need oxygen for her at this point. The shaking episodes are almost daily, and often several times a day. In addition to her lips turning blue, she has also started falling asleep afterward, sometimes for an hour or more.  They have also increased in length and severity; much more violent shaking, sometimes her head gets "stuck" turned to the side, and a few times her eyes have been stuck upward. While all of that sounds horrific (and it is to us), Dr. Sasha said that if they are seizures, they are mild. They are short and since her oxygen level returns to normal, no brain damage should take place. 

So, Dr. Sasha said to start a low dose of Depakote to see if it helps. If these are not seizures, it won't help. We gave her the first dose on Tuesday morning, and it will take some time to start working if it's going to. Well on Tuesday she had three giant "shakers" as we call them, also combined with a "head turner" each time, blue lips once, and eyes stuck upward during one of them. She slept most of the day between these episodes. 

Unless you have been a parent who has watched your child have some kind of episode like this, seizure or not, and then sleep the day away, I don't think I can accurately explain how emotionally wiped out I was at the end of Tuesday. I mean, I know a person can imagine how it might feel, but just not to the extent of having experienced it. We got a video monitor quite awhile ago, but when these started we got a second camera for in the living room, so I can always see Lu. Therefore, whether I'm taking Finn out, taking a pee, trying to get dressed...whatever, my eyes are glued to the screen. So, when I see her arms going up and out, which is what happens before an episode begins, I come running, even though there just isn't a damn thing I can do to help her. I just hold her hand, smile a little, and assure her that it'll be over soon and it will be okay. 

I still don't feel comfortable sharing a video, even if it could be helpful to someone desperately searching for clues as to whether their child is or is not having a seizure, but I have decided to include a still picture I took from one of the videos. It is what her face commonly looks like during these episodes. It is of her precious little face that I look at while she shakes uncontrollably, trying to keep myself together for her sake. It is an accurate depiction of how I think she feels during the episodes, which makes me enraged and devastated because it is clearly a look of terror.  Here it is:

She was frozen to the side during this video so I was able to get a picture because she was not shaking much at this point, but she started toward the end. 

And then this is what I have seen more often than not in the past few days and weeks:

Not usually laying on Chad, but just exhausted and completely wiped out. 

So, we will see if the depakote helps. It's such a conflicting feeling that Chad and I have; on one hand we hope it helps so she can go back to herself and not have to live like this, but then if it works it means she now also has seizures, on top of everything else. If it doesn't work, and they aren't seizures, then there might Not be anything we can do for them. We have always known that seizures were a very likely possibility. I have often said, "She could have one right now...or right now...or right now." We knew the could just come out of nowhere, and then they did...maybe. We'll see what happens. 

2nd Annual Shaffer Halloween Bash

Last year we started a tradition of having a little Halloween party for Lu and her pals so she can enjoy Halloween without the usual trick or treating part. Being that we live in a very rural area, if we wanted to take Lu trick or treating it would be an agonizing process of getting her in and out of the car and either awkwardly carrying her to the doors or getting her wheelchair in and out over and over...plus she is in bed by 7:00. So, trick or treating just isn't a super feasible option for us. And of course she wouldn't be able to eat most of the "treats" that she would get anyway. So, we have a little party so she can dress up and see her friends dressed up and eat snacks and have fun.

Lucy's shaking episodes have been making her fall asleep afterward for the past week and unfortunately she had one about ten minutes before party time. She slept for a little bit, but we were able to wake her for the party. While we were eating she said on her Tobii, "I don't like it, it noisy". We talked about how parties are usually a little noisy and I reminded her of how excited she had been all morning for the party. She wasn't crying or upset, and was actually smiling, and eventually it got a little quieter so she seemed ok.

Lucy has recently become a big fan of Tinkerbell from watching the Tinkerbell movies we borrowed from the library, and when I asked her if she wanted to be Tink for Halloween she enthusiastically nodded yes!  I found her this adorable costume at Kid to Kid:

I made a homemade Peter Pan costume and Chad was a homemade pirate:

And all of her sweet friends came to be with her:

I had also decided the night before that we would play a version of charades where we would be playing fast and loose with the rules, like the only rule was just don't say what you are trying to be! Chad and I came up with a bunch of Halloween characters and things and then I put them all into Lu's Tobii. I included them in a blank page within "special events" in her PODD because that is where all of the holiday words are. So this way she could guess along with the other kids. And in the morning I was showing her the page and telling her what we were going to do and she kept choosing Frankenstein over and over again, so I asked her if she wanted to act out Frankenstein for everyone. She said yes, so I changed the Frankenstein button to say this:

So when she activated it, it wouldn't say Frankenstein, and then we tried to walk like Frankenstein. When it came time to do it in front of everyone, I gave her a little time to activate it, but then I did it for her. When she is in front of a group like that I always worry about her feeling too much pressure and it being even harder to do what she wants. So I activated it, she did her act and someone guessed! Then a few minutes later she activated it on her own! It was great! 

What was also great was just the whole party in general. I don't know if people realize how much it means to us that they come and participate in a Lucy friendly way. We just feel so grateful to have an amazing group of friends and family that support us and love us and join us when we need to do things differently. We take Lucy out into the world all the time, but sometimes we just like to bring the world to her. Instead of figuring out how she will fit into what we want to do, we make everything fit around her. She enjoyed baked beans, Mac and cheese, and Reese cups for lunch, some of her favorites. We played a game pretty much designed with her in mind so she could actively participate, and we brought everyone to her. Sometimes it just needs to be like that and we are lucky to have so many people in our lives that understand that. 

Seizures and not seizures

Rett Syndrome is so maddeningly stupid that I just can't get over it sometimes. Things had been going really well with Lu since getting her feeding tube, so I suppose we were due for something to change, and change it did. About a month or so ago Lu started having some episodes that really looked like seizures, for the most part. I have some excellent videos, but have decided to just explain them and not show Lu in such a vulnerable state to the whole world. 

The most severe form of these episodes includes her arms and legs suddenly stiffening, her arms slowly going out to the sides and raising into the air, and then being followed by uncontrollable shaking. During the shaking her eyes are huge, her pupils are dilated, her face is pale and splotchy, and she is not breathing. They last much less than a minute, more between 30 and 45 seconds. These shaking spells are happening approximately once a day. Sometimes there's no shaking in a day, and sometimes it happens more than once in a day. Then, all throughout the day, Lu is also having very brief spells with just the stiffening and arm raising, but no shaking.

So, off we went to the third extended EEG if Lucy's lifetime. This time was relatively painless since these are occurring so often, we only had to spend one night in the hospital, and found out they are not seizures. Yes, it is great news. We don't have to give her a medication that might make her groggy, and we don't have to worry that they won't respond to medication and damage will be caused to her brain. However, 80% of all people with Rett will experience at least one seizure in their lifetime. Yes, maybe Lucy will be in that lucky 20%, but I'm just not holding my breath. We haven't missed out on any of the other big symptoms of Rett, and I just don't feel it's realistic to assume that we will miss out on seizures. I hope we do...more than anything else, oh I hope we do. They terrify me. People die from them. 

Plus, since they are not seizures, there is nothing we can do, that we know of right now, to help these spells. When she just raises her arms and goes stiff for a few seconds, I don't get too worked up, and it doesn't really disrupt her life. But, the "shakers" as we have started to refer to them, are utterly heartbreaking. Lu looks scared and confused, and I can't help her. We can just hold her hand, and smile and tell her it's okay, it'll be over soon. We will see Dr. Sasha at the end of the month, and she may or may not have any other thoughts on what they could be. But, chances are that since they are not seizures they are just another thing that Rett Syndrome is doing to Lucy's body, and we just have to let it happen and get used to it, like tooth grinding, breath holding, and hand flapping. It just is what it is I guess. 

Rett Syndrome is the pits...

Here is Lu covered in electrodes...and still smiling.

And then look what the electrodes did to her skin. She has/had big scabs all over her head. It makes my stomach sick that she has to go through these things.

Teaching Lu

I just wanted to share a link to a sister blog I have created called Teaching Lu. As the title suggests, it will be all about how I educate Lu. It will be about activities that we do, what works, what doesn't, and how I decide how to teach her. A LOT goes into teaching Lu. A LOT goes into helping Lu express anything, let alone information that she has learned. I am pretty excited to write about it as I think about it all the time.  It will be interesting to see if readers have ideas or tips to help me out, as well as my ideas, thoughts, successes, and failures being useful to others.

Here is the link, and thanks for reading!

Teaching Lu

"Healthy"

I read this article by a father of a son with special needs yesterday. I have read a similar one in the past. Take a moment to read it:

http://themighty.com/2014/08/why-i-stopped-saying-just-as-long-as-its-healthy/

It raises a good point that most people might never even think about, the statement, "as long as it's healthy", but then what if "it" isn't? Life will end? You won't love your baby the same? I realize that it's a statement that is just part of small talk. It's what people say when they are expecting a baby, but again I ask, "What if it isn't?" I think it's a stupid thing to say, and I'm sure I said it plenty of times, without a second thought. 

What I have been having trouble sorting out in my brain is the idea that Lucy is not healthy. Technically, by definition, I guess she's not. Lu can't talk with her mouth, she cannot walk independently, she cannot use her hands functionally, she has to have a feeding tube because her mouth isn't capable of efficiently eating enough food to nourish her body, she holds her breath, grinds her teeth, has low muscle tone, tremors, wears braces on her legs, has chronic constipation, gas, and reflux, and takes a pile of medicine daily. AND, now we are worried about seizures again because Lu has started having almost daily episodes of stiff arms, wide confused eyes with dilated pupils, pale splotchy face, and uncontrollable shaking. In the past ten days she has had 1-2 episodes 8 out of the 10 days. We are going in for yet another extended EEG on September 30th to determine what is happening and if seizure medication is needed. So, just one more point against "health" I guess. 

In my mind, I have such a clear separation of who Lucy is and what Rett Syndrome is, that it guess I don't consider her to be "unhealthy". And when I hear people talking about their relief at how healthy their baby or child is, how they feel like they have won a grand prize, I immediately feel indignant. Like, just because Lucy is not "healthy", I didn't win a prize? Like I don't think Lucy is the most amazing, beautiful, incredible child we ever could've created because she was born "unhealthy"? Once, when we were at the training to learn the PODD, another mother asked me in the restroom if I was a mother of a child with Rett and I said yes, and she said, "Oh I'm sorry." I get why she said it, I'm sorry too that Lucy was born with this horrible, debilitating condition, but I have never, ever once been sorry that I am Lucy's mother and as soon as she said it, I felt like she also socked me in the gut.  I am sad all of the time that Lucy's life has to be so hard for her and, that there is so much that just isn't possible for us as a family, but I never feel like I didn't win just as big as every other mother I meet. 

Lucy is Lucy. She is a whole person whose mind, and heart are 100% healthy. Rett Syndrome is a condition that makes her body not work, and in essence makes her "unhealthy". I've said this before, but I have been thinking about it a lot, because Rett Syndrome is not all she is, it is not who she is, she just has it.  It's an obstacle that we have to overcome each day. But in spite of it, her person, her essence, all that she is comes shining through all the time. That's why I guess I don't think of her as "unhealthy" on a regular basis, I just think of her as Lucy; my daughter who loves to cuddle, and play babies and Mr. Potato Heads, and read all kinds of books. My daughter who loves to swing, and ride her bike, and who especially loves to swim. My daughter who loves cheese, and Mulan, and the Magic Treehouse books that she and her Daddy have been reading.  My daughter, the artist:

(Fingerpainting)

The author:

(Lu used the alphabet on her Tobii to "write" this.)

The beauty:

It just so happens that she also has Rett Syndrome.