Monday, December 31, 2012

"I need to go to the bathroom"

Lucy is now 31 months old. Today, using her new PODD book she told us, "I need to go to the bathroom" and then I took her upstairs to the potty and she did indeed need to take a big poopy! Lucy has "told" us things by making choices and by using her yes and no buttons and head movements, but today, at 31 months old, she made a statement! It was amazing!

It has been less than a month since we went to the PODD training and it took nearly two weeks just to get the book put together, so I have only been modeling the book for about two weeks now. Within just a couple of days of the me starting the modeling, Lucy was watching nearly everything I "said" to her and she was mesmerized. The whole process of how to use the book as a visual language is a long explanation, but you can get the gist by knowing that when I point to a picture I say what it is and that is how she learns what they are and where they are. Since Lucy isn't able to use her hands reliably to point to the pictures on her own, we use a scanning process and her head movements for yes and no for her to choose what she wants to tell us.

Now, in the past two weeks, even though Lu has been very engaged and interested in what I was telling her, any time I have asked her if she had something to say, she always said no (for "no" she turns her head to the left). Today we were having speech and Danielle gave her three choices of activities and the fourth choice of "something else" and she said yes (for "yes" she tilts her head down or forward) for Mr. Potato Head, but then she kept saying no for everything she was given as a choice to put on him. After several series of choices and all she had chosen was a nose, I suggested that maybe she had made a mistake and didn't mean to choose Mr. Potato Head. She looked toward her book and reached for it and said yes when we asked her if she had something to say! She scanned first to "uh oh" since she had made a mistake when she chose Mr. Potato Head. Then she went to "Turn the Page" and on the next page she said no to "please", "thank you" and then said "yes" to "I need to go to the bathroom".

I just realized how totally awesome it is that I have had to use so many quotation marks during this post to emphasize things Lu has said! I have friends with children who can speak and still won't tell anyone when they need to go potty! I don't think I can even use words to explain how I feel about Lucy being able to tell us things. In February it will be one year since we got the diagnosis of Rett Syndrome. Less than a year ago a stupid doctor told us, in not so many words, that Lucy's life was going to be basically worthless. Ummm, I'm going to have to say "Errrr WRONG!" Kiss our ass Dr. Coffman and kiss our ass Rett Syndrome! Lucy had to use the bathroom today and went right ahead and told us about it! That's my big girl!

Monday, December 24, 2012

Not a big fan

I've never been a big fan of Christmas. Even as a kid, after I realized there was no Santa of course, I tended to feel so guilty that Mom and Dad bought me so many presents because we just didn't have much money. I always thought, "I haven't done anything to get so much stuff!" Of course I was still a kid though too, so it was a mixture of guilt and excitement.

As the years passed I let my hatred of Christmas grow to whatever proportions it wanted to, but I still dutifully participated. Then one year I decided to try and make a change and make as much of the presents homemade as I could. That has helped since the year I started that, and I have become progressively less grinchey. I have less time now, so less it homemade, but I still try my best. And then of course Lu came along and I try to get more into the spirit for her sake. So, we decorated the tree, made stuff, bought presents, and helped her get excited. She found the "hidden" pickle ornament on the tree this morning and got a special "Pickle Present", which is a little tradition introduced to me by my good friend Shelly. Lu has found the pickle every year since she was born! Chad and I also decided long ago to not do the whole "Santa" thing, so Lu knows that it is just a story and still enjoys the shows and Christmas books and whatnot.

Anyway, large gatherings are really not Chad and I's favorite things to begin with and I feel nervous about today because as can be seen by the picture below, we are seeing EVERYBODY today, well mostly, and those are just the pictures that I have made, there are still more people that I don't have pictures of that we will see. And now we have a "weird" bottle that Lu uses, a big book for communicating, and all of the other things that are different about her and us, and I get nervous about all of the questions. Like I said after Thanksgiving, they are well-meaning questions, and from our family that loves us and just wants to understand all of the things about Lu, but I just know I have a day of explanations ahead of me, and I just kind of wish we could spend the day doing Christmas stuff and ignore all of that. Not to sound like Lucy and Rett Syndrome are the focus of the day by any means, that's not at all what I'm saying, but just inquiries come up in conversation, sometimes maybe just because people don't know what to say. It's just how it is I guess though. People love her and want to know how she is doing and as her parents we have to tell them. I guess I just wish I had a day off every once in awhile from talking about Rett Syndrome, but we don't and we won't, and its not okay, but it just is what it is.

So anyway, Happy Holidays.

Friday, December 21, 2012

One last hoagie

Last night Chad and I were debating what the date was and then realized that today was when the world was supposedly going to end. In my infinite lameness (and hoggish-ness) the first thing I thought in my head was, "Man, I wish I could have just one more Subway sandwich!" I told Chad what I had thought, he confirmed I am lame, we laughed, and then quit talking about the end of the world. A few minutes later though, I realized that even though wanting one more hoagie is by far the least climactic ending wish I could have, at least my first thoughts were not things like "I wish I had been a better mother, wife, daughter, friend, etc." I did not instantly think regretfully about things I wish I had done, or had, or seen.

To me, my first thought about wishing for one more hoagie, while trivial, and mundane, means that I do not have any serious regrets, or guilt about how I have lived my life so far. I give everything I have to being a good mother to Lu and wife to Chad. I love and care for my parents, and grandparents and family and try to help them out and be with them as much as I can. I have probably been falling behind in the "being a great friend" department, but life is busy when Lucy has 8 therapy sessions a week, when we are trying to build a more accessible home, when I still have all of the regular household duties to tend to, and when I want to spend any spare second doing more and more to help Lu's progress. But I have great friends and they understand and love me even when I am neglectful.

So, even though I have never had "perfect behavior" in any of the above-mentioned roles, I am happy with how things have gone in life. I am so grateful to have Chad as my husband, he truly is, to use a cliche, "my rock", and I am his. We are so overwhelmingly grateful together to have such a beautiful and amazing daughter. (Geez, I didn't mean to get gushy!) Life is good. Maybe people who complain about their lives feel it isn't good if it isn't perfect, but I seldom strive for perfection. It's not realistic to do so and if that is your goal, you will likely be constantly disappointed.

I'm glad that it is almost 1:00pm and the world hasn't ended...I was pretty certain it wouldn't. I was just going to say that maybe one regret I might have is how much I love food and how much I eat, but then I thought of that hoagie again and I don't feel bad about that either. Have a nice time continuing to be alive!

Thursday, December 20, 2012

Miss Rumphius

The other day Lu and I read a new book that we have checked out of the library called Miss Rumphius. Miss Rumphius was raised by her grandpa and she told him one day that she was going to travel all over the world and see far off places, but then someday she would come back home and live by the sea. He said that was good, but she had to promise to do one more thing, and he said she had to promise to make the world more beautiful. She agreed and when she grew up she did the first two things and when she was back home living she noticed that seeds from the lupines she had planted had blown to a field nearby and grown there also. This gave her the idea to carry pocketfuls of lupine seeds wherever she went and she spread them everywhere, so she made the world more beautiful by planting lupines everywhere.

It was a cute story and at the end I looked at Lu and said, "Do you know how I made the world more beautiful? By making you." And she turned her head real quick and smiled right at me. It was so sweet and so purposeful I think. She is the light of my life.

Tuesday, December 11, 2012

Breakfast Time!

In the past month or two Lu has started scooting out to the kitchen when she knows it is getting to be time to eat! We got a cute little owl bell that we ring too and say, "Come on out! Time to eat!" And then we say whatever meal it is time for and she scoots herself on out! It is so is she awesome!

Sunday, December 9, 2012

The Phases

In the past year or so, Lucy has gone through phases that have worried me, stressed me out, and basically just got me all in a twist. As soon as something new has started I instantly think, "Oh, so she does this now, ok." And then I would assume they were things that would be forever.

There was a period of time where Lucy was chewing a lot on her hair and inevitably eating some of it. I learned the word bezoar while researching hair eating online, which basically means hair ball, and freaked out a little bit about it... but then she stopped.

For awhile she was chewing pretty avidly on her arm. I got her a bracelet call Oh Plah, which is wide and thick and for teething so she could chew on that instead of her arm...and then she eventually stopped.

Before we went on vacation this year, Lucy had been having quite a bit of trouble with eating, like she just seemed to not remember what to do some of the time. So, she wasn't eating or drinking much and I was totally freaking out that time. Many girls with Rett have trouble eating and drinking which causes them to not be able to gain weight, and this is one of my biggest fears for Lu. (Unfortunately I believe the fear manifests itself from our completely failed and horrendous attempt at nursing where I felt like Lucy might waste away because we weren't making it work, but that's neither here nor there.) We went on vacation, and she started eating and drinking ravenously again.

In October Lucy started grinding her teeth and she was really going to town with it. But, guess what...she quit.

A few months ago she started clicking her tongue and almost making kissy noises again, which were things that she used to do before her regression...but then she stopped again.

Sometimes Lucy drools a TON! Sometimes she can't sit still enough to eat and I have to hold her tight to feed her. Sometimes she blows raspberries constantly while eating. Sometimes she bites herself and us. Sometimes she really can laugh A LOT! Sometimes she is able to give kisses and hugs.

All of the things I have mentioned above come and go. The good and the bad. Lucy recently started chewing on and constantly mouthing the knuckles of her left hand. That's what one picture below is of. Another picture is of how I bandaged it up after smearing some salve on it so at least the skin can heal a little while she sleeps. I finally realized the other day, as I was agonizing over her raw knuckles, that she will probably quit doing this at some point too! She will probably start again too at some point, but I finally understand that some of the things that come with the Rett Syndrome, so far are not "forever" type things. The things like I have mentioned I mean of course; she has plenty of forever things that go along with the condition, but the things that pop up out of nowhere and get me all worked up, have a way of disappearing after awhile too.

She'll probably gnaw on her arm again at some point in her life, or eat her hair, or get raw hands, but I suppose the secret is just to care for it as best as I can while it is happening and not worry as much about whether or not it is going to be something she does FOREVER. I very often remind myself of how lucky we are that she has not yet had any seizures and she can eat on her own, as those are two major concerns with many of the girls.

So anyway, I just wanted to share my epiphany and my joy in feeling a little calmer.

PS. The third picture is just of how cute Lu is after her bath at night!

Tuesday, December 4, 2012

I have something to say!

We finished the PODD training today and the final thing that Linda Burkhart, the trainer, said was:

"Now go home and talk to your daughters."

Even as I write that I am tearing up again, as I did when she said it. Toward the end of the training I was having a hard time keeping it together, probably brought on by the drain of sitting for two days in a row in a training, being away from Lu, and just being away from home in general, but also because this is no small task we are about to take on and it is not a matter of little importance. It is HUGE! A quote that Linda used toward the end was:

"Communication is the essence of being human."

Yeah it is. And right now Lu has her own ways of being able to communicate some things to us, but as she learns to use this program and begins to understand that this book is her voice, she will blow our minds with the things that she will be able to tell us.

As we sat in the training I did my best to latch on as hard as I could to the main concepts behind the system so I can always bring everything back to those ideas. The very most important thing that we and everyone in Lucy's life will have to always, always keep in mind is what I just said above: THIS IS HER VOICE! She currently uses her voice to vocalize and laugh and do all kinds of things, but by saying "voice" we mean it is her way to communicate and this book needs to be with her always. It is not work, we won't take it out, practice with it, and then put it away; it will need to always be present, or it won't work. And it is not a small book, nor is it inconspicuous, stylish, or convenient. But I said to Danielle and Chad that we need to think like this and so does everyone else: we would not duct tape a child's mouth shut for parts of a day because it is easier for them to not talk at those times and not having her book available to her is essentially doing just that.

Linda Burkhart, was trained by the woman who created PODD, Gayle Porter, from Australia. Gayle said that her best advice to us as we begin the process of learning to be fluent in the system so that we can model it and teach it to our children is to
"Be Zen." Easier said than done for myself because I do not tend to be zen when it comes to something of great importance to Lucy's well-being. I tend to be anal, worried, tense, and vigilant. Why she says that though is because it is not something that is going to be taught overnight. It will be a process and Lucy will not just pick this book up once I have it made and tell me things...we have to be patient, relaxed, and not pressure her.

Another key thing I need to keep in mind to help me stay focused as we learn is that the PODD is a "visual language". It is just like learning sign language, or a second language, or even like children learning a first language. It is not just a picture book. It is a whole mind shift, it is not very widely known in the United States either. Linda is the only trainer right now that is certified to do trainings in the U.S. So, when people see me lugging this book around with us everywhere we go, they will not know what it is or why we are doing it, which is a little intimidating to me. But below is a picture of some new bracelets Chad, Lu, and I will wear when we start using the book. We will model for Lucy how to lift up her arm with her bracelet on to let us know that she has something to say. Let me repeat let us know that she has something to say!

Saturday, December 1, 2012

Far and Away

Today Chad, Danielle, and I left for Yonkers to attend a training for Lu. For anyone that doesn't know, Danielle is Lucy's speech therapist, and also my cousin. She has been working with Lucy since shortly after she turned one. The training we are here for is to teach us to use a communication program called PODD (Pragmatic Organized Dynamic Display). It is a "low-tech" system using eye-gaze to tell us what she is thinking, feeling, wants to do...all kinds of things. I don't even know all of the things that she will be able to tell us, but luckily we have been working for several months on teaching her to use her eyes to tell us yes and no. I think I have mentioned this before, but she can look at us if she wants to answer yes and will look away for no, and she keeps getting better and better at it.

So, Dr. Sasha has invited her patients' families to this training FOR FREE! It costs $10,000 to have the trainer, Linda Burkhart, come for two days and luckily Dr. Sasha was able to get a grant from a Jewish organization to cover most of the cost, the catch being that we couldn't have the training on the originally planned dates because it included a Friday which is Shabbat, so we are having it on Sunday and Monday instead. I am so very excited to learn all that we can, be able to get started as soon as we can, and to help Lucy talk to us.

But I miss her so much when we are away from each other! It's like a part of my body is missing. I was in a near panic this morning when she left with my parents. I do appreciate the time away where I am able to be "off-duty" and just read and crochet or knit, or whatever I want to do, but I guess I love being on-duty, as it turns out. It is hard and tiring, and sometimes extremely frustrating and stressful. Sometimes at the end of the day I am so relieved that it is finally over all I can do is sit on the couch and zone out to sitcoms. But no matter how hard a day is, I LOVE IT! I would not give up being Lucy's mom and spending all day, every day with her for anything in the world, and I miss her terribly right now. I know she is happy and having fun with Grammy and Pappy, but part of my heart is missing when she is away from me and the only thing that makes it easier is knowing that we are here learning something that will improve the quality of her life.

Tuesday, November 27, 2012

Apple Pie

I have been feeling lately like I have a lot to say, like I just want to sit and write and write about Lu, but I don't because I don't think I have anything new to say. It's just the same old, same old, but it always seems new and fresh to me. But it's sad and whiny stuff. Thanksgiving was a little difficult because we were around people that don't see Lu often and I was asked about her hands several times, but in nice ways of course. It made me realize though that things change with her and I just go with it, but then when people ask about it I realize how obvious it must be, since I see her all day every day. And what is especially wonderful to me is the way our families love her so very much and kind of gravitate to her and she just LOVES the adoring attention, but being my hyper-sensitive self, I always see the sadness, the hesitancy, and the desire to not say the wrong thing. And I don't feel hurt by any of those things; our families are being kind and thoughtful, I just hate that they exist at all. That I have to see those things makes me sad. Which then makes me think and think, and want to get it out, but I've already said all of the things I am feeling before. So instead, I'm just going to share this picture of an apple pie I made yesterday and if you look at the bottom edge in the center, you can still faintly see where I helped Lucy use her teeny fingers to pinch the crust shut! It was delish and she loved having a little slice for dessert!

Saturday, November 24, 2012


So, here is our new puppy. We have named her Maggie and she is a cockapoo, which is a mixed "breed" of cocker spaniel and poodle. She was born almost two weeks ago and is in New Castle. When Chad was growing up they had a cockapoo named Cookie, but they always called her "Bub" and he basically seems to measure all other dogs against Bub's perfectness, so we decided to try and find a responsible breeder of cockapoos to add to our family since losing Elmer. I searched online for quite a few days and finally settled on this lady who seemed very caring and the website did not give me the creeps. It was a little stressful because you don't know who these people are or if they are running a shady puppy mill, but I feel confident that she breeds the cockapoos responsibly and has been very professional and friendly so far in our dealings.

We will be able to bring Maggie home in the middle of January. I am excited, but then get overwhelmed with sadness for Elmer too. He was so sweet, and so good with Lucy. I cried so, so hard one night a week or so ago because I just want him back and that is obviously not going to happen. But I think it is nice to have a dog around. And the lady who cuts our hair also made the point that it is nice for Lucy and I to have a distraction sometimes too. She will have curly hair like Elmer I think. I have showed Lucy her picture a few times, and we have talked plenty about Elmer and what happened, so I think she will be excited for a new puppy too when the time comes. I wanted to wait a few months anyway, so this worked out perfectly. The breeder said she will send weekly pictures to let us see how she is growing, so I will share those when I get them!

Thursday, November 22, 2012

The Monster At The End of This Book

I have a video clip that I wanted to share, but I can't seem to figure out if it is possible to include a video in a post, but here is a little picture anyway and I will just explain this great thing Lu has learned to do in the past week!

She has her own iPad that her Grandma Brenda got her for her birthday and it has a Gumdrop case on it that is extremely protective so she can use it somewhat on her own. I prop it up on a book holder and she has been enjoying it while in her stander. Our pt, Mari, told me about an app of the classic Sesame Street book called, "The Monster at the End of this Book" which we have and have read plenty, so we got the app. We played it together quite a few times and then one day Lucy was in her stander beside me while I sat at the kitchen table peeling eggs and she was playing this app, but I had her beside me so I could help her turn the pages. But then, after a few minutes I realized that she was turning them herself! I had her arm brace on her left arm because the page turning and activities that you need to finish are in the right side, but her right arm is much less functional that her left arm, so I figured she would need help. But she didn't! And she didn't try to turn the pages until Grover said so!

And then the next day I decided to try it again and this time she was also completing the actives such as touching Grover's belly to tickle him and then touching his ropes to turn the pages, touching boards to make them fall apart, and touching a brick wall to make it fall down, all so she can go on to the next page. So, not only is Lucille May following directions, but she is using her hand, her RIGHT hand at that, to do so! She never quits amazing me! Phooey, I wish I could post the video!

Wednesday, November 21, 2012

Thankful all year long

Last Thanksgiving I wrote about all of the things I love and am thankful for about Lu. This year I have a whole new list to share, but first, a thought. On most holidays where you are  either supposed to honor someone, be thankful, be holy, whatever, it often occurs to me that it seems silly to make such a special effort just one day a year, when really we should be thankful every single day, not just onThanksgiving Day.  We should always cherish our parents, our children, our spouses, partners, etc., not just on Mother's Day, Valentine's Day, or whatever other holiday you can think of.

I don't mean to toot my own horn, or to make myself out to be some sort of accepting, saintly, serene being, but I do believe that I make a special effort to be grateful all year long for the good things in my life. And I constantly remind myself that things that are less than perfect could certainly be so much worse. Now, just last week I had a mini-meltdown while watching TV one night...I started laughing at some mediocre joke and then proceeded to simultaneously laugh and sob. I get down, I get blue, I get overwhelmed and I get completely pissed. I act cranky, and frustrated, and tense sometimes. I cry, I yell, I snap at Chad, and I lose my patience.

But even on the most frustrating days I am always grateful that I am able to be home with Lu to take care of her myself. Even when Rett Syndrome is causing something especially heart breaking to occur, or I am sick of bottles and medicines, therapies and equipment, I always try to remember that at least Lucy can still eat and drink.  She does not have seizures, she gains weight like she should, and that at least all of those therapies and medicines, and equipment exist to be able to improve her quality of life.

I am not grateful at all for the presence of Rett Syndrome in our lives, but I am grateful to Huda Zoghbi for discovering that a mutation on the gene MECP2 causes Rett Syndrome and because of that discovery a blood test was able to give us an accurate diagnosis. We didn't know anything last year at this time and now we do, so I am grateful for the knowledge, and I am grateful that we have found many wonderful people to help us move on and teach Lucy so many amazing things.

I am grateful for the constant mantra of parents who believe in their daughters: "They are smart, and they are in there." I am so incredibly grateful to Julie Peden, the IRSF representative who has taught me so much, but especially that she was the first person to tell me that Lu is in there. I am grateful that we found her (Lu) in there and have worked so hard to figure out ways for her to express herself.

The truth is, no matter who you are, where you live, or what you do with your life, some days suck and some days rock. What makes me feel grateful is that even on a day that totally sucks, I love my life with Chad and Lucy and all of our family and friends more than I think I could ever express in words. We are fortunate people, and I am thankful for that.

Sunday, November 4, 2012

A Sunday in Holland

Today, in her new stander that we are trying out, Lucy helped me make Chewy Lemon Zucchini cookies. She has never been able to be at the counter with me!

Later we colored a picture with some new colors of Twistable crayons that I got her yesterday and with her "universal cuff". The Twistables fit into a little pocket in the cuff and then the cuff velcroes around her hand. I have to first fold a sweatband in half and put that over her hand because her hands are so little and then I can cinch the cuff snugly over that. It's still mostly hand-over-hand, but she's learning a little each time how she could maybe do it on her own someday.

Wednesday, October 24, 2012

The one where I whine a lot...

I am teetering on the brink of a break down. Not a real one, requiring like, medical intervention or anything (at least I don't think so), but I can just feel my mind and body saying "Julie, that is absolutely enough!" Unfortunately, listening is not entirely an option. I want to share the list of things I am currently planning, working on, stressing about, and tending to:
1.) building our house
2.) closing on the house, and making sure everything is in order
3.) trying to get Lucy a stander
4.) trying to figure out how to get insurance to pay for the special bottles that are helping Lucy to drink more effectively, and in turn not aspirate
5.) thinking about packing and moving
7.)trying to figure out how to go about getting Lu a "speech generating device", the My Tobii C12
8.) trying decide what type of bath chair would be best for Lucy's new rolli-in shower
9.) coordinating with a lady to possibly adopt a new dog, because it is so sad without a dog
10.)Lucy has a little ear infection and A LOT of congestion and is on her first antibiotic ever, and hasn't pooped in two days, which is becoming routine again, (to not go for two days i mean) even after increasing her Senna to a teaspoon, so now I will have to email the GI and tell him and go get a new prescription probably
11.)planning for preschool, even though it is early because I am so worried about finding the right place and the right people to entrust our sweet Lu to

I could probably think of some more things, but I'll stop at eleven. Sometimes, there's just too much to think about. Too much to do. Too much to worry about. I mean really, I'm the family's secretary, but my secretarial "work" is really super important, and I am very, very like a dog-with-a-bone, passionate about it. So I give my all, 24 hours a day, and then just sometimes everything gets to be too much. Like, the things I am working on so hard are to enable my daughter to be able to walk and talk, and receive a proper education. Pretty huge. So not only is it just a lot of thinking, typing, emailing, calling, pestering, planning, etc, etc, but it's also like, urgent to the max to me and Chad. Unfortunately, it's just that way to me and Chad, not the rest of the world, and I can only do so much.

So, I guess what I am saying is that I'm running on fumes here...which evidently makes me use the word "like" a lot. But I know it will be okay, I just need to get some rest, take a break from thinking and planning, and take a breath.  (Yeah right, as if that's going to happen!)

Tuesday, October 16, 2012

Goodbye to a good boy

On Sunday we went outside to practice in Lucy's new walker we are borrowing for the week. It was a beautiful fall day. Elmer has been pretty good at staying with us throughout the summer when we have left him off if his leash, so we thought he might enjoy some freedom while we were all outside. Elmer was excited and wound up and having fun, but then two motorcycles went past and Elmer took off after them and the second one hit him. Chad and I saw it happen; Lucy's back was to the road. Elmer died within moments after the accident.

The motorcyclists did not stop, but I'm sure maybe they were mad that someone had let their dog run out into the road and nearly make them wreck. I was so relieved that they didn't wreck, but so very heartbroken to have lost Elmer. And so enraged with myself for letting him off of his leash. This is why I want to shelter everyone from everything all of the time. But, I let him loose because living things need independence and freedom.

And now, three days later, it is so sad to go through the day constantly forgetting for a second that he is gone and expecting to hear him come running, or think its time to take him out or feed him. He was a stinker, but such a sweetie too, and just a puppy. I assumed that he would be with us for a long, long time and he would be Lu's best pal, and he was so very sweet with her. He knew very early on that he was not to mess with her, and the rule was that she could basically do whatever she wanted to him because that was what she could do at that moment, and he had to take it. She always meant well, and he seemed to know that.

I miss how he would come sit down beside me on the floor in the morning while I gave Lu her juice, or how he would lay beside me while I bathed Lucy and then would nap in front of the shower while I showered. He was just such a good boy and he is very sadly missed here at the Shaffer house.

Saturday, September 29, 2012


I forgot to mention one more totally amazing thing that Dr. Sasha said to us on Friday. It was the last thing she said to us, but let me give you a little background on the comment first. I think I have mentioned Lu being able to use "switches" to do different things such as participate in reading a story, telling Chad about her day, and recently she has been able to use two different ones to tell us if she wants a bite or a drink at meals. Below is a link to see what one looks like (I couldn't get a picture in):|45;d|T1D7aR6LYznIiM:

We have also finally figured out how to use the switches with a special interface that we found to operate "switch adapted" apps on the iPad. So we do a lot with them and Lucy really likes them. Dr. Sasha thought this was great and said we will be able to take what she has learned so far and transfer it to the PODD books which is a communication system that she has invited us to a training on. She also frowned when I said that I bought two switches to use after borrowing two for the summer...she doesn't like it when  people have to spend too much money I don't think!

So, Dr. Sasha came in after Lucy had done the tests for the Tobii and when Iris the evaluator, told her Lucy's scores she said, "Quit buying switches and start saving for college!" To Chad and I that was such a wonderful thing for her to say for the obvious reasons, but what makes it especially wonderful is that just like when she told us about her belief that there will be a cure by the time Lu is 10, she wouldn't say something like that if she didn't truly mean it and believe it to be possible.  And Chad and I feel like even if a cure never comes, going to college is still something that would be extremely beneficial to Lu just simply for the education, but also for the social aspect and any bit of independence that can be acquired from it.  It was just such a wonderful thing to hear!

Since it has taken me over a week to get to writing this, I have told people in our lives about that hopeful comment and a lot of them have laughed, like "Oh haha, good one Dr. Sasha!" But she wasn't joking, not at all, in any way, and we took her very seriously! She had a giant smile on her face when she said it, but we knew she meant it and she was smiling because Lu is amazing and she was so proud of her. Chad and I believe that she can do anything, and because we believe in her so much, she has made such great progress.

I worry often about things such as: the house being messy, needing to clean more, needing to exercise more and lose weight, thinking I should make a little more effort with my appearance, that the dishes should always be done, that I should vacuum more...the list goes on and on. But I'll tell you what, even though I worry about all of those things, they never come first, it's always Lu who wins. I get things done; we always have clean clothes, good food to eat, and the dishwasher generally gets run daily (with help from Chad!), but it is more important to me to take time as much as I can every day, between therapists, to do my own things with Lucy. We work on numbers, colors, ABCs, shapes, coloring, stringing beads, standing, crawling, singing, giving kisses...all kinds of things that are way more pressing to me than all the lame stuff I already mentioned. And that's why she will go to college, with or without a cure.  Seriously.

Saturday, September 22, 2012

Little Ole Awesome Lu

Well, it is 7:46pm and we are on our way home from the Big Apple again!  Today we had our second appointment with Dr. Sasha, the Rett specialist. In addition to seeing her, we first saw the gastrointestinal doctor at the Rett Center and a swallow specialist who took an x-ray of Lucy while she ate and drank. We left at 6:15 this morning and are still probably an hour and half from home. Lucy, as usual, rocked the face off of this big, long, exhaustingly tedious day! She was patient, sweet, smiley and only very minimally fussy a time or two...except for when she had her blood pressure taken with the cuff! She freaked out! I think that maybe after all of the doctors she has seen she might have never had her blood pressure taken with the cuff and she did NOT like it! She does better getting shots and blood drawn that she did with that! Anyway, I have lots of news to share!

First the bad news: NOTHING! It's all super great news so read on!

The GI doctor was extremely helpful and gave us some different medicines to try to tweak Lucy's reflux and constipation regimen. The doctor she saw once through Geisinger first prescribed her a medicine called Axid which worked for a month or two and then quit being useful. He then prescribed Prevacid once a day which is now helpful, but then he also wanted to do an upper endoscopy. We wanted to see the doctor at the Rett Center to just get a second opinion on the necessity of such an invasive procedure. And he said he likes to not do things like that until kids have failed all therapies (ie. medications) that he wanted to try. So we left with a prescription for Gaviscon and a liquid senna to help her intestines move the waste though more efficiently. Much simpler solutions than sedation and a tube down her throat I'd say!

And then we saw Dr. Sasha! She said that Lucy has made more progress than she expected and she was very impressed with all she's learned in 6 months!  We then showed her how Lu can stand in her AFOs and I helped her take a few steps toward Dr. Sasha and she said, "Maybe I will be wrong about her not being able to walk! I like it when I am wrong!" she was very excited!  Next we talked about what we have been doing communication-wise and I explained how in speech and throughout the day we have been working on having Lucy look at us for yes and away for no and that we have also started focusing more on her using eye gaze to tell us what she wants or to find things in a book. Dr. Sasha was also VERY excited about this and said that she has decided to lower her threshold for when she thinks girls can start working with the Tobii, which is a special communication device that uses Lucy's eye gaze to operate instead of just her hands. I had asked her about this a few months ago because they are around  $20,000 so I know we will have to do work to get her one, and she said then that she wasn't old enough yet, maybe we would look into it after she turns three. Well, yesterday we went to the room beside Dr. Sasha's room and Lu first did a few tests to see if she was even capable of focusing enough and to make sure her eyes would calibrate. Lucy looked at the screen 71%, 78%, and 64% of the time in the three different tests. The speech therapist who does the testing said that is like where adults score!!! She kept saying that she couldn't believe she is only two years and four months part due to her size, but mostly because of how awesome she was doing! Then she got to use the actual Tobii and was able to navigate around through a couple of different screens...all with just her eyes! It was amazing and at one point looked at picture for hug several times so that I would hug her! So, Dr. Sasha said we will begin the process of getting a Tobii right now instead of waiting because she did so great with it! YAY!

And finally we had a swallow study done where another doctor gave Lu different things to drink and eat and we watched it go down by doing an x-ray of her throat. We needed to make sure that even though she coughs, gags, and chokes sometimes that everything was going down the right pipes.  The verdict was that there is not currently any risk of aspiration and she said everything looked safe! She said her swallowing abilities and chewing are classic for a girl with Rett, but not in any kind of danger zone, so even more great news!

I finished this on Saturday...we did not get home until around ten and were all super exhausted.  We hate having to go to New York terrifies us, but it is definitely worth every second of the long journey to know that we are on the right track and that Lucy is kicking Rett Syndrome's sorry keister!

Friday, September 7, 2012

An education for others

This weekend has been busy with parties and picnics and at one I became aware of something I have not really thought much about.  A close relative's husband was reading one of Lucy's purple cards that briefly outlines Rett Syndrome, and he said, "Are you serious? This is going to make me cry." My response was like, what are you talking about?! Don't you know what's going on here? Of course it's serious! But he didn't, and still probably doesn't know much, and then it occurred to me that maybe others, even people who are close to us, don't know as much as they should or could.  And I believe it is Chad and I's job to help educate the world, so I wanted to take some time to have an educational post. Most of what I will include will come right from the Rett Syndrome Handbook  (paraphrased) which is sent to all new families that register on the Internatinal Rett Syndrome Foundation's website.

Before writing this I went back and read the post I did the day we had Lucy's appointment with the ill-informed Dr. Coffman. What a shame that he has spent so many years in college, has years of experience as a developmental pediatric neurologist who also specializes in movement and I have learned more in six months about Rett Syndrome than he has apparently learned in his whole career.

Rett Syndrome is caused by a "genetic mutation which occurs at the time of conception. The name of the mutated gene is MECP2"  (pronounced " Meck-pea-two") Less than 1% of the time the mutation is inherited. In that small percentage, the case is that a mother is a carrier and her daughter inherits the mutation from her causing Rett Syndrome. The other 99% of the time the mutations are caused by the sperm randomly mutating. So most of the time, it just happens; to anyone, anywhere, of any race, any ethnicity, and any age.

The mutation of the MECP2 chromosome creates too much or too little of certain enzymes or proteins and that interferes with normal development.

Rett Syndrome effects primarily girls. The symptoms do not start to manifest until 6-18 months of age, so when they are born, there is seldom any evidence of the existence of Rett Syndrome.

In the beginning there is a regression period where the girls begin to lose skills that they may have already acquired, or depending on the point of onset, have been in the process of acquiring. They start to lose their hand functioning to various degrees. They lose their ability to talk, if they had started talking at that point. They might lose their ability to walk if they could walk in the first place.

Many girls are originally diagnosed with hypotonia, which is low muscle tone. Rett Syndrome is in fact the cause of the hypotonia. For the record, hypotonia seldom occurs for no reason. There is generally an underlying cause for it.

The most disabling aspect of Rett Syndrome is a severe apraxia that effects every aspect of functioning in a girl's body.  Apraxia is: "the inability or difficulty to program the body to perform motor movements". The apraxia effects everything the girl with Rett Syndrome tries to do. It is why she might not be able to walk, it is why she cannot talk, cannot make her hands and arms do what she wants, and why she can't even look in the direction she means to at times. The desire to do these things exists within her, but the apraxia is constantly, cruelly getting in her way. Our Rett specialist in New York said that 50% of girls are never able to walk independently which is primarily due to apraxia.

Another fundamental aspect that the apraxia gets in the way of is allowing the girls to let the world know what they know. Until recently, it was believed that the girls effected had significant cognitive impairments. Experts have been working diligently to help us learn ways to let our girls express themselves and to tell us what they know. They are smart and they are in there, even though it can seem as if they are in their own worlds sometimes.

Girls with Rett Syndrome also experience near-constant, repetitive hand movements when they are awake. The Rett Syndrome Handbook describes this as "being done to them", it is not a compulsion, or something that they have any control over. The movements can look like clapping, hand wringing or washing, or even flicking and flapping. The girls may also have problems with mouthing their hands and forearms. Both situations can cause mild to severe skin irritation, not to mention the way it must feel to the girls as their hands only stop moving when they fall asleep. To give the girls some respite from the movements and mouthing, elbow splints are often used which seems to relieve the girls for the times they are on and make them feel more relaxed.

Many girls have difficulties with eating and drinking. There can be issues with chewing including how efficiently they can do so.  There can be problems with swallowing including choking and gagging on both liquids and solids. The girls can have issues with easily aspirating on their food and drink and are susceptible to aspiration pneumonia. Many girls suffer from reflux and almost all girls have some degree of constipation. Many girls and women will eventually get a g-tube or a feeding tube due to these complications. Because of these situations, girls can become malnourished,dehydrated, severely underweight, and lose energy, all of which prompt the decision to have a feeding tube inserted.

All girls with Rett Syndrome have an abnormal EEG. 80% of those effected by Rett will have at least one seizure in their life.

Approximately 90% are at risk for some degree of curvature of the spine. The risk increases when girls are not mobile.

In addition to aspiration pneumonia, infectious pneumonia is a common problem in the Rett population.  "Lack of normal movement makes the individual with RS more prone to pneumonia." Pneumonia can quickly become very serious in girls with Rett, often resulting in hospitalization, and sometime even becoming fatal when it causes severe respiratory complications.

Girls with Rett also need to have regular EKG tests to check for "Long Q-T Syndrome". "Q-T refers to one of the intervals that characterize a normal heartbeat cycle.  In people with Long Q-T Syndrome, this interval is longer than usual, which disturbs the heart's rhythm. The disorder may cause attacks of fast heart rhythm, which can be serious."  A girl needs to be continuously checked because she can not have it one year, and it can develop over the next year.

Many girls have abnormal breathing patterns that include hyperventilation, breath holding, gulping air, and shallow breathing. This causes problems throughout the day including too much air in the stomach, but it can also cause sleep disturbances throughout the night.
So the two most obvious issues that we deal with on a constant basis are Lucy's inability to walk and talk. I spend the majority of every waking moment trying to figure out ways for her to be able to communicate with the world and ways for her to navigate through it. But, Rett Syndrome unfortunately is not just made up of those two difficulties. Everything I have mentioned above can contribute to compromising her health in so many ways, which sometimes leads to a shortened lifespan...because there are just so many things that can go wrong. This has taken me several days to write and during this time a four year old with RS died. She had been sick and had been in the PICU with respiratory failure, but I do not know the specifics of why she passed away.

My goal in writing this truly was to be informative, however, I do realize that it is probably gloomy to read. My intention was not to come off as, "Oh, whoa is me, pity us." However, I think it is important for the people in our life to fully understand, and accept what the situation is and what we have to deal with everyday and what all we are constantly worrying about. I guess it is the same as not ignoring what Lucy's hands do, we can't pretend that this stupid Rett Syndrome is not scary and horrible. But, I felt I had been remiss in helping everyone to understand what it is all about.  I guess I was just learning myself during these past months since receiving the diagnosis. I will continue to share information as I learn it.

Monday, September 3, 2012

The windmills and the tulips

Before continuing, please go to the link below and read the short story written by someone else...

I have been struggling this week with living in "Holland". I love that little essay. It is spot on, and the first time I read it, after a fellow mom of a daughter with Rett Syndrome posted it on Facebook, I thought and thought about it for days. And cried, and got made, but also felt a little more accepting. Chad read it and then a few days later he came into the living room where I was trying to make a picture with Lucy using tissue paper that she could scrunch up and then we were trying to glue it on the paper. We had done it before, but this time was a disaster and I was tearful, and Chad said, "Are you doing your crafts in Holland?" and that made me laugh, because of course we were. We don't ever get to take any little breaks to is all Holland, all the time. Although there are so very many things Lucy cannot do in the "regular" way, for some reason, this week I have been sadly lamenting her inability to color by herself, or to paint, or play pretend. Or to get any type of creativity out in the usual way. I think that is so important and I rack my brain trying to figure out ways for her to be creative, but part of that process is independence. Doing whatever you want, in whatever way you want to. Like one time in Kindergarten I colored a horse red, or with a red mane, and my stuffy teacher said it was wrong because horses are not red! What! Who cares? I want Lucy to be able to color horses any color she wants and she might have all kinds of ideas about what colors she thinks things should be, but she can't do what she wants to do. I need to figure out ways that she can. 

I guess I went on a slight tangent there, but here in Holland my sweet Lu can't pick up a crayon and draw a beautiful picture by herself. She can't even hold onto the crayon for more than a few seconds.
And I am enraged about it.

Saturday, September 1, 2012

Lucy's Great August Adventures

We have been VERY busy since getting back from vacation and I had optimistically taken photos of all of the momentus occasions that have taken place, but Google+, the way in which I add photos to my blog, was not uploading the photos correctly. Chad, in his infinite computational wisdom, somehow fixed it last night, so this is going to be a big fun update of all that has happened in August...with pictures!

Waiting for the dentist

 Lucy had her first dentist appointment on August 6th and it went great! She sat nice and still in my lap and just had to lean back into the dentist's lap for him to examine her. She was quite a bit more cooperative than she even is when we brush her teeth! He said her teeth looked perfect and that's me several times for taking such good care of them and for bringing her in. Chad was mightily pleased with us!

 And then on August 8th a fellow came out to the house to help us decide what would be good for Lucy instead of just a regular stroller. As she obviously continues to grow and grow, but is not yet walking, getting her around is becoming increasingly difficult, as well as uncomfortable for her at times I imagine. When she sits in her regular stroller that we have now, she has very little back or side support and tends to slump down or lean to the side. This is problematic for her in that scoliosis is a big concern for the girls in general, but especially for the ones who are not able to walk. She also continues to rock back and forth, even with a shoulder harness (a flimsy one though) and kicks her feet in the air. So, we chose the stroller shown above which is called the Kimba Spring Tilt in Space. It will have a much more substantial harness to help her keep still, as well as special buckles to keep her feet down. Also, there will be lateral supports to help keep her up nice and straight, and much more back support! It will be awesome. It is not technically a wheelchair, but is obviously not just any old stroller either. So it will be a few months before we get that, but I will be glad for it to come. 

Princess  Lucy

Now I'm not really very into the whole princess thing, but my friend Ann, and her kids came for a visit this month and brought a ton of great hand-me-downs for Lu and I just had to show off her adorableness as a princess/ballerina or whatever this costume  may be!

We got to the library quite a few times this month also. We read many, many new books, but best of all Lu got to play with her buddy Celie! (And Celie actually sat still long enough to play a little!)

 And the grand finale of the month...Lucy's new, wonderful, hopefully life-altering AFOs! These could possibly be the key to maybe walking. Time will tell! 

Friday, August 17, 2012

Who is Lucy Shaffer?

Lucy Shaffer is a two year old little girl who:
-loves her mom and dad
-loves her puppy, Elmer
-loves all of her grandparents, great -grandparents, aunts,uncles, and cousins
-really likes to eat...a lot! Especially cheese (in any form!), pizza, pudding, applesauce, hotdogs, turkey burgers, pasta, dippy eggs on English muffins, yogurt, DONUTS!!!, and a ton of other things
-knows the names and face of all of the people in her life and can point to their pictures when asked
-can also identify approximately 100 things including animals, foods, colors, tv shows, people, and places all by pointing to pictures
-Loves to watch her favorite tv shows which include Martha Speaks, Curious George, Super Why, Word Girl, Sesame Street, Wild Kratts, and anything that she watches while either sitting on the couch with her Dad'ums or in the chaise lounge with her Pappy
-Smiles when she is happy, cries and fusses when she is mad or sad, yawns when she is sleepy and acts up a bit when she's being a stinker
-likes to ride horses
-Loves to go swimming
-likes to go for wagon rides and rides down her slide
-does NOT like to get her face wiped off
-does not really like sauerkraut
-loves to rock in the recliner and read stories and cuddle
-loves Violet, her talking puppy toy
-understands all kinds of things like where our socks and shoes go, the difference between yes and no, what is and is not a food, that she shouldn't chew on Elmer's rawhide bones, but does it anyway until I scold her and then she tosses it aside, acting as if she hadn't been doing anything at all!
-hates to get sunscreen on
-gets impatient when I take too long getting her supper/lunch/breakfast ready
-likes snacks
-has a favorite teddy that she must sleep with at every nap and every night
-still likes her binky
-does not especially care for getting her teeth brushed

Lucy Shaffer is a two year old girl who also happens to have Rett Syndrome. She is not Rett Syndrome, she just has it. She is many, many, many other wonderful things, and also, as I have shown, in a lot of ways she is not much different from any other two year old little girl. Just because Lu can't talk doesn't mean we don't know what she likes or doesn't like, or how she's feeling, or what she knows. And just because she doesn't walk, doesn't mean she doesn't go anywhere. And just because Rett Syndrome has stolen all of these major things from her, and then replaced them with rocking, squealing, ceaseless hand movements and other exhausting things that she cannot control, does not mean that Lucy is not in there. She most definitely is and she's's just up to her "big bats" (aka me and Chad) to make sure people are always seeing that she is in there! She hears us, she understands us, and she wants to be a part of things, just like any two year old does. And she knows without a doubt that she is loved unconditionally by her Mom and Dad, but also by many others, and I bet she knows we will make the world know just who Lucy Shaffer is.

Thursday, August 2, 2012

We have had three successful trips down to the beach so far since the first unsuccessful attempt. Lucy loves it and laughs and smiles and kicks her feet! She isn't even scared and some waves have caught us off guard and splashed her in the face a little bit, but she's just so brave about it! We sit right in the sand as you can see in the pictures and it is messy and hurts a hit, but it is the best way for her to be able to experience the way it feels when a wave comes in and washes over her and then what it feels like when the wave goes back out and the sand gets pulled out from underneath her. I am so glad that we came and she got to have this experience!  We have a few more days left to enjoy it before we head back to "real" life...

Wednesday, August 1, 2012

Forrest and Jenny

So something about being away from home that I had not anticipated is that Rett Syndrome is constantly punching us in the face...we are out of our comfort zone. At home we do the same things, in the same way, with the same people, for the majority of each day.  So here we are in a completely different place, with only strangers, and trying to figure out each day and how it can be successful. It is a little say the least.

I wrote a whole long post this morning and it began with the preceding paragraph. Unfortunately, after that paragraph I lost my Internet connection and did not realize it so the entire post (minus that paragraph) was lost. I just want to say really quickly what the gist of the post was, however. It was sad and I am kind of glad it got lost because I have a much nicer topic to write about. The post, titled "Forrest and Jenny" as this one is still titled, told about how Chad and I were watching Forrest Gump last night and I lost it when I watched Forrest plowing through the crowd to get to Jenny after his accidental speech at the anti-war rally. And as they waded through the reflecting pool into each other's arm, I just began sobbing because Lucy is so awesome and I want her to be able to have a Forrest in her life. I want her to have someone, outside of her family, that loves her and understands her, and always keeps trying to understand her. That looks past her Rettness and sees Lucy for Lucy.

But I lost that post and it's okay. Then today the sweetest thing happened when we were out for lunch. After we were finished eating, Chad and Lucy went to the toy store and I went to the restroom.  As I was leaving, the young girl that had found a table for us said that she just wanted to tell me what an adorable family we were and how happy we seemed. She said that she sees so many people who seem like they might just be happy because they have lots of money and because they are on vacation, but that she could tell we were just genuinely happy and loved being together! It brought tears to my eyes and I found Chad and Lu in the toy store and told them what the girl had said. I said later how wonderful of an observation that was, given the year we have had and the huge, pretty heartbreaking, and life changing news we received.  That in spite of all of that, we are still happy, and we are people who don't let "life" be the boss of us and keep us down, but make ourselves the boss of life.  We ARE happiest when we are together, but I never knew that outsiders noticed that.

I am still going to add the picture that I was going to add to the original post because it is relevant to both that one and this one.

Lu and her "Forrest"

Monday, July 30, 2012

So today I figured out how to use Google+ to add pictures to my blog!!! I have been trying to figure out how to add pictures since I started my blog and I am just not so savvy at things like this so it took me awhile. Even Chad wasn't sure how to do it! Yay! So watch out, tons of pictures will be now included!

This is Lucy after she we up from her TWO HOUR NAP today! She rarely naps that long...vacation is rough on her!

Much needed vacation!

Yesterday the Shaffer family arrived at their beach front condo in Duck, North Carolina for their first real vacation as a family. It is just the three of us and we are so incredibly excited to be here and to just relax. Eat good food and relax are the two main items on our agenda. After the year we have had with Lucy's diagnosis and the starting of such an increase in her therapies, not to mention Chad graduating from college and getting offered a permanent position at Minitab, we are pretty say the least. So here we are after a nine hour drive!

We attempted to enjoy the beach this morning and it was quite disastrous. Lucy was cranky to begin with and we should have just let her take a nap first, but I thought the excitement of seeing the ocean and the water would distract did not. It just enraged her further. In addition to her crying, the walkway to the beach is in no way handicap accessible so I carried Lucy down in the backpack carrier we have and she didn't like this much either. We are also on the third floor with no elevator. When I booked this cute little condo last summer (at a very reasonable price!) I thought Lucy would be able to walk by now...we didn't even know what Rett Syndrome was at that point.

So, weneed to adapt, change our expectations, and regroup. Maybe we just go for nice walks on the beach, and there is a nice pool right by the condo. We are going to go out for some nice dinners and maybe go to an aquarium. The important thing is that we are all here together sans work, therapy, laundry, and the usualness of every day. We will make  it work!

Monday, July 16, 2012

With her own two hands...

I will not deny that sometimes I use my blog to express feelings to my friends and I can do so in a calm, thoughtful, and constructive way. This is one of those times. Lucy is constantly clapping her hands, flicking her fingers, and some times doing a little wringing. This is Rett Syndrome. A quote from the Rett Syndrome Handbook, provided to us by the International Rett Syndrome Foundation is as follows:

"It is important to recognize that she is not causing the repetitive hand movements to happen. They are happening to her. Even in situations where she wants to, she is usually unable to break up these movements on her own."

Often times, people that do and do not know about Rett Syndrome will make comments such as, "Oh yay she's clapping!" or "Oh, she's playing patty cake! Good job Lucy!" But, as is stated above, and is a fact, she is not doing either of those things, or anything meaningful at all. It is just happening, and I am fairly sure that Lucy knows that very well...better than anyone else in fact.

I would challenge anyone to take a full minute and continuously clap their hands over and over again; that is Lucy's waking hours, every day, almost every minute unless her hands can briefly
distracted by something else, but afterward, it's always right back to that. Regardless of who makes the comment, it feels like somebody has socked me in the gut. The difference comes from people who do not know she is not playing patty cake and the people who do. I have spent a lot of time thinking about why it upsets me so much and how I can express myself without seeming like I am trying to tell people what to do and I have come up with two main points I would like to share so that people who love and care about Lucy might look at her hand movements in a different way, and change the way they acknowledge them.

First of all, as Lucy's family and friends I believe it is our job to let her know that she can be who she is, and how she is 100% of the time for all of her life. I feel that pretending this very obvious aspect of her disability is something more meaningful or more "cheerful" is not fair to her for several reasons. First and foremost because she knows it is not meaningful or cheerful and if we as her loved ones insist on pretending that it is, then she will eventually come to feel like it is wrong or bad, or embarrassing...but she can't stop it, so she would just continue to feel that way. If somebody was having a heart attack in front of us, we wouldn't pretend they were acting out a scene in a play just because that would be easier to handle. It is important to "call a spade a spade" as the saying goes, and move on.

I feel like the motivation for pretending that her uncontrolled hand movements are something else might stem from various reasons:

1. It's sad.
2. It's so obvious and people just don't know what to say.
3. People want to hide from Rett Syndrome, avoid it, pretend it isn't the bastard that it is.
4. Maybe they think it makes Lucy feel better.
5. Maybe they think it makes me and Chad feel better.

But here's the thing, little two year old Lucy never gets to hide from it, never gets to pretend it's something that it's not, and never gets a break from all of the symptoms. And so as adults, and people who love her, I don't feel that it is fair to her that anyone else should get to hide from it either. It is freaking sad, but pretending doesn't make anyone feel better. If she is brave enough to soldier on every day; learning, and working, and struggling, then we all need to be right there with her, accepting Rett Syndrome for what it is and facing that. The reality of this situation is that how we all feel about Rett Syndrome and the sad things that go along with it is not really relevant. It's not about us. It's about Lu and what she needs and what is best for her. For example, the other day, the swallow specialist that we are going to see in New York said to go back to a nipple with her so that she will maintain her "suck/swallow" ability because she has always lost a ton of liquids and is now losing food. This made Chad and I sad, but it does not matter. What matters is that I want Lu to be able to eat and drink for as long as possible! Forever hopefully, and if we have to use a bottle to accomplish that, then we do, and our feelings cannot get in the way of that. We have to just suck it up.

And I will tell you this, I spend every day watching those hands go and go and go, and there is not one second that passes when I watch them that I do not want to scream and cry. I never look at them with anything less than rage, and confusion, and without my heart breaking all over again. But I also look past them, to my beautiful daughter who smiles in spite of them, which is why I am able to shoulder that rage, tuck it away, and get on with business...because that's how she does it.

My request is just that people say nothing at all. They are her hands. They are in constant motion. Yes it is awkward, and obvious, and sometimes tiring just to watch, but we all know that, so let's just step right around them, and let Lucy be Lucy. She never has been able to play patty cake, she probably never will be able to, but who cares! She rocks in other ways, while learning more and more ways to rock each day!

Sunday, July 8, 2012

Take that...

In the past few weeks:

1.) Lu has started not only sometimes peeing on the potty after her bath, but now she is pooping too! She has done so four epic times this week with last night's poo being the most epic of all! She was tooting up a storm as I bathed her and I said, "Lu, don't poop in the tubby! Try to hold it. You can do it!" and as I finished up her bath I just kept reminding her to wait until she was on the potty and the moment I sat her down on her little potty she started pooping!

2.) Lucy has started learning to look at us for yes and away for no! We were not having much luck in trying to teach her how to nod for yes and shake her head for no and then when we were at the conference one of the presenters used the looking at you or away method and that is working great! We have been using iPad apps as practice and she loves it! As she continues to become proficient in this imagine all that she will be able to tell us!

3.) Using a Step-by-Step communicator Lucy has helped read The Grouchy Lady Bug and Katy and the Big Snow, two of her favorite books. Lucy has also chosen from activities she has done in the day and used the Step-by-Step to tell her Daddy about her day when he came home from work. (Also a great idea I learned at the conference!)and greeted her friend Celie one morning when we went to the library.

4.) We are fortunate enough to have grandparents with an inground pool and have been swimming almost everyday. Lucy can sometimes float on her backin her life jacket and kick her feet and is doing awesome at practicing standing on the steps in the pool.

5.) And yesterday Lucy got to see a horse for the first time and we met a lady that is going to do therapeutic horseback riding with her.

So I am just really proud of how hard she works and how smart she is and I figured I would just save up and brag about it all at one time. My main message, however, is "Take that Rett Syndrome, you mean, miserable, sneaky, thieving bastard of a foe! Bring it on, we're not afraid of you!"

Friday, June 22, 2012

The Big Easy

Well, here we are finally! Chad and I are at the World Rett Syndrome Congress in New Orleans! We flew in yesterday and it was a breeze...well not the part about leaving Lu! But I did it and we got to see her on Face Time this morning and she and Elmer are having fun with Grammy and Pappy! I was so nervous because I have never spent even a night away from her in her two years of life. When Chad and I go out for some brief alone time I still call mom at least once to see what Lucy is doing and then after a few hours I can't stand it anymore and need to be with her. But I won't get to see her until late, late Sunday night and then she will be asleep and no matter how much I miss her I will not disturb that!

So, when we got to the hotel last night, after meeting up with wonderful Julie Peden at the airport, and then meeting another Rett mommy on the shuttle, we headed out to look for some supper. As we left the hotel we ran into another wonderful woman named Paige Nues who works for IRSF and we said hi and introduced ourselves. She granted us the scholarship for one registration fee and when she realized who we were she just hugged and hugged me and looked at pictures of Lu and was so sweet! And when we told her about our first devastating appointment with Dr. Coffman she said she wants his name and phone number to educate him and I will definitely do that. Then in the next few moments I met the chair of the board of trustees for IRSF!

I said to Chad that it is amazing to me that this whole community exists for support and encouragement and help and these wonderful people will hug you like they have known you all of their lives because the majority of them have been just where you are and felt all of the things that you have felt. Which, it stinks that we have all had to feel these things, but it is such a relief to get to be surrounded by each other and to know that you are no alone. And this feeling of group support comes through strongly just through Facebook groups and email, but then getting to be with the actual people is certainly a million times better! I am so incredibly excited to be here and can't wait to learn all that we can!

Here is my favorite dialogue with Chad from yesterday as we were descending into New Orleans:

Me: "Oh my gosh I am just so excited! We are going to learn so much and it is just going to be so awesome! All of these experts are going to share all of their knowledge with us!" (paraphrased and picture that I am beaming and clapping my hands like a child at the thought of ice cream)
Chad: "You act like we are flying in to pick up the cure!"

Later when I relay this funny quip to Julie Peden she says, "You never know!"

Wednesday, May 30, 2012

Teaching Lu

Last summer, before we knew anything about Rett Syndrome and assumed that Lu would just "catch up" as the neurologist suggested, I started considering homeschooling her. That is important to remember throughout this post...that I had some of the beliefs that I currently do, prior to the knowledge of such an all-encompassing disability. My thoughts and feelings regarding public school are as follows: I believe it to be extremely boring, first off. I have never, at any point in my 18 total years of education been able to say that I enjoyed it, but I love learning new things! Secondly, everyone learns differently, everyone doesn't always want to learn the same thing, and there is really not a lot of wiggle room in the public school system for "difference". I suppose I mean within the regular education curriculum, but I would say even in special education and eventually, that is where I am going with my thoughts, to discuss the special education system. Third, herding the sheep into a drab building to sit quietly in rows of desks, for SEVEN long hours each day, in order to make them behave in a way society feels they should...nah! Not for Lu I don't think.

Here's the thing...sans Rett Syndrome, I still wouldn't want Lu to feel like she had to be a certain way, do certain things, act a specific way. With Rett Syndrome, she just acts her own special way and that is how it is, and I don't believe in trying to pigeon hole her into trying to act in ways that are impossible for her. Sit still, be quiet? As if! And why should she? However, my initial purpose for this particular post is to express my frustrations with the special education system and the public school system as a whole. I am a member of a Facebook group called "My daughter has Rett Syndrome" and one called "Home Educating My Child With Rett Syndrome". A lot of the families on the home education site, from what I have read, eventually decided to remove their daughter from public school because no one would listen to them, their daughters were not receiving the education that is their right, and they were too worn out to fight anymore. In the other group, I often read posts from parents that are currently still putting up a fight and these posts are sadly filled with anger, frustration, anxiety, and despair. Guess why...because nobody listens to them. I have read several times where the school has removed all academic goals from a girl's IEP because they felt she wasn't capable of meeting them.

So, the two main things that I struggle with are why should we have to fight, and will anyone believe in Lucy like they need to and like she deserves? Now, my goal is almost never to be controversial and absolutely never to hurt anybody's feelings so allow me to make some declarations. First, certainly homeschooling is not for everyone. Fortunately for me I have four years of special education credits and a final bachelor's degree in Rehabilitative Sciences. I have taught (briefly and miserably) in public schools as a block student, I have been an Early Intervention special instructor, and feel confident and motivated in the possibility of educating Lucy myself. I am also fortunate that my husband and I are financially secure enough that I don't have to go to work. So that said, I totally realize that some people want or have to go to work, some people have not had years of education classes, some people, don't want to home school, and some people have faith in public education. My purpose is not to say anyone is right or wrong, it is just to voice my feelings. But even now, at the age of two, I see people underestimating Lucy, while I am standing right there. I don't have faith in other people to have the amount of faith in Lucy that is needed for her to be able to succeed. I just don't and maybe I am a little bit of a control freak about that, but oh well.

So the trick is figuring out ways to help Lucy let us know what she knows. I am already seeing how difficult that can be and how far out of the box you have to think to get things accomplished. So my second thought is that why should it be so hard to get "professionals" to do things the way we want and need them to. They might be professionals, but as I have said before, we are the experts on our children. We know what is best for them and how to get the best out of them...but people don't always listen to us! I feel like what will be best for Lu is just to skip the whole headache of people not listening to me and doing what I ask, and just doing it myself to begin with. And I have not just heard these types of complaints in regard to feeling that they are not being heard from Rett parents! I have a friend whose son gets special Ed services and she basically enters each IEP meeting ready to do battle because the school keeps trying to pressure her into sending her son to the Life Skills class...which is 45 minutes away!

I guess this was a little bit of a ramble and a rant, but it just shouldn't have to be so hard to acquire the best education we can for our children. Things in life are already tough enough for them (and us), why should we have to beg and plead for what is rightfully theirs by law and also have people understand them and believe in them? There's no answer, it just is what it is.

Tuesday, May 15, 2012

Mother's Day Surprise

I'll save everyone the suspense...Mother's Day made me mad...that was the surprise. On stupid Facebook I read all kinds of things about the day people's children were born and how they look back on it fondly and it made me realize something very sad about the day my sweet tooty bum was born...I feel deceived by that day. Like if that day were an actual, tangible thing, I would want to punch it in it's face. Labor was not going so well, even though my water had broken like a gigantic flood, they had to give me stuff to start contractions and first they were coming too close together, then they wouldn't get regular, and then Lucy pooped! So we had to do an ultrasound and discovered that she was breach, even though the doctors had been saying for weeks that the hard lump I patted all day up by my ribs was her bum and she was doing fine! So one emergency c-section later and I finally got to see my beautiful baby and find out that she was a girl!

Now don't get me wrong, I do still look back so very fondly on that day...the first time I got to look in her eyes, when we found out she was a girl and saw all of her dark hair, and the relief that labor was over and she was out! It was all wonderful and I am grateful everyday that we have her at all! But I feel like that day is like a sneaky, mean girl that likes to hurt people's feelings and make them upset and keeps secrets just to be able to floor everyone with it later...because Lucy had Rett Syndrome all along and nobody knew. It was sitting right there in the room with us as we tried to get her to nurse for days and days, but didn't give us one clue to it's existence and the fact that it was putting the kibosh on nursing. I guess Rett itself is really the big sneak, not so much the day of her birth, but I feel like such a fool every time I look back and think about how relieved I was that the birth was okay and that I believed it was all smooth sailing from there.

I did not expect to have such a hard time with Mother's Day, but I have been mad, and sad, and weeping for 3 days now. I HATE RETT SYNDROME! I hate it so much that I just want to crumble, or explode...but I won't. And this weekend is Lucy's birthday and obviously her first birthday since we received the diagnosis, so I guess I am thinking about that too. I'm just having a mad phase I guess. I'm so angry that everything has to be so damn difficult for her! For crying out loud she's just a baby! But she's not, because she already knows that life is tough and she has to work really hard for everything that she does...and that really pisses me off too. She shouldn't have to know anything like for a long, long time.

I am just having a little bit of a tough time and it came out of nowhere and caught me off-guard which seems to be adding to my anger, that I wasn't expecting it, so I apologize to my faithful readers for the negative vibe I have bombarded you with this time!