Sequel

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):

http://www.google.com/search?num=10&hl=en&site=imghp&tbm=isch&source=hp&q=little+mack+communicator&oq=little+mack&gs_l=img.1.1.0i24l7j0i10i24j0i24j0i5i24.3993.7840.0.10227.10.8.0.2.2.0.847.1586.3-2j6-1.3.0...0.0...1ac.1.Md-eaGN4S_4&biw=1024&bih=672&sei=Ug1nUOqMH4jO0QGy6IDwBg#biv=i|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.

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 old...in 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 City...it 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!

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.

The windmills and the tulips

Before continuing, please go to the link below and read the short story written by someone else...
http://ndsccenter.org/resources_oldold/holland.php


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 Italy...it 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.

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!