Rare Disease Day 2011

I know that at lot of my blog posts center around Claire and Rett syndrome, but today she will share the spotlight. Feb. 28th is the 4th Rare Disease Day, which is a pretty big deal for me. It is very easy to feel isolated and overwhelmed when dealing with the multitude of hard things that come with a rare diagnosis. Rare Disease Day is about calling attention to the over 7,000 rare diseases that more than 30 million Americans suffer from and so many more globally. So, to bring attention to my favorite rare diseases (and by favorite I mean have hit VERY close to home for me) I figured I would blog about them.

I will start with Amyloidosis. In March 2006 my mom was diagnosed with primary amyloidosis after having a major stroke and being rushed to the Mayo clinic which was close to her home. The amyloid protein had deposited in her heart, causing it to be very thick and pump inefficiently, thus the stroke. Doctors painted a very grim picture, they doubted that she would be around more than 4 months. The primary treatment at the time was a stem cell transplant but because of the stroke and the damage to her heart, she was not a 'candidate' for that. Mayo being on the edge of what is new and exciting offered an option referred to as the Italian protocol. They didn't know if it would work, but there was very little to loose by trying, and as it turns out, so much to gain! The experimental treatment worked!!! It was through Amyloidosis that I was introduced to the concept of a support community and the science of the body. I learned about the Congo Red Dye test that is done to check for Amyloidosis and about the importance of the light chain assay to keep track of where the disease was as far as active or inactive. I learned about special cows in Vermont (no joke!) that are raised to produce a specific substance that allows for this test, that in turn allows doctors to take my mom's blood and report back that she is fine. Yet again, I find myself loving cows! I also learned about how very intelligent, well intended doctors, just don't know everything. While at the same time, strangers with no medical background can at times be the greatest of resources. The strength that was shared through the community of others as we went through the treatment was amazing, I think at the first support group meeting there were 8 other people from 4 states and none of them felt like strangers.

Next up, Crohn's disease. Just after I turned 19 I was sick a lot. My parents thought I had an eating disorder as I lost weight like crazy and spent a lot of time in the bathroom. It felt like the viral infection from hell that lasted for months, turns out, I wasn't anorexic, it was Crohn's. I had to take what seemed like a thousand pills a day and none of them helped. I ended up in the category of severe Crohn's and in the chemo unit at Mayo Clinic getting infusions every few weeks. In retrospect, it was a pretty crappy (ha,ha) way to spend my 20's but I really had no choice. I was tired for years. Finally in 2007 I got really sick. I was in the hospital in Santa Cruz and the GI doc came to visit me. He pretty much said that I was so bad that nobody in the Monterey Bay area was qualified to help me. The next day I was on a plane for a consult with a colorectal surgeon back at Mayo Clinic in Arizona. One of the things that I have learned in my experience with the various rare diseases, it is never good when a specialist can see you right away, never. It did work out that this doctor knew a lot more than the guy I had seen at home. He even knew of somebody in my state who could care for me. Ever since then I have been sticking needles in myself every two weeks and my Crohn's is under the best control that it has ever been! I never joined a support group because I didn't really want to talk with others about the stress from constant diarrhea or how frustrating it is to get sick from everything since your immune system sucks. Rather Crohn's taught me to laugh. My friend Kathleen and I would inflate exam gloves while we waited for doctors and write different parts of the exam in appropriate places. Jared and I played hangman in the waiting room at the ER when I had beauts of uncontrolled vomiting. I learned to let laundry pile up and that cleaning the carpets was more of an optional thing. As much as having Crohn's is truly a pain in the ass, I know that I am a better person for having to get the lessons from it.


That brings me to Rett syndrome. While it is more common than Amyloidosis, and with a longer life expectancy, more debilitating than Crohn's and even more socially awkward, Rett has brought with it the strongest community that I have experienced in rare disease land. There is no doubt about it, if I could undo any of these, it would be Rett, I hate it. It holds our daughter Claire captive, makes me second guess just about every thought that I have and has driven Jared and I to the edge of exhaustion and we are just at the beginning. But I do have so much hope. Research is being aggressively pursued. Of the three rare diseases in my life, I most expect that Rett will have the biggest leaps in treatment and what we do with it in my lifetime. That is why Rare Disease Day is so important. Awareness is so critical as each of these different causes strives to make progress and ease the effects on the body. So on Monday, as you might be tired for one reason or another, I encourage you to think about the significance of Rare Disease Day. If you are somebody who has a rare disease close to you, know that you are not alone, there is support, there are other people out there. If you do not have somebody close to you in this exclusive club, perhaps you would have strength to share or encouragement to give and if you do, please do not hesitate, you can make a difference.

Shoes!

I know that my last few posts have been a little bit heavy so I wanted to share about today, because it was brighter. Nearly two weeks ago Claire had filled up her token board by eating her breakfast in a timely fashion and getting to school on time. I was so desperate to get her to eat that I bribed her with shoes, and it worked! It kills me how easily she can do things when motivated. Last weekend we decided to put off the shopping trip to play at the boardwalk, so Claire has had a lot of time to think about this. Captain awesome, being awesome, had noticed pink and black high top converse with Velcro down the back when we were in then shoe department at Nordstrom a few weeks back. So Claire and I did a little online research and as it turns out, she was keen on the high tops. So this afternoon the four of us piled in the car and drove over to the "big" mall. We listened to Claire's music much to Chloe's dismay, but this was Claire's reward. We had to take the elevator up to the third floor. Nordstrom being the fancy place that it is has floor to ceiling mirrors that we passed and wow, that little diva! Claire shamelessly checked herself out as she rolled by with the biggest smile on her face. I don't know why I am so surprised but she was so peaceful and bubbly while we looked around for the high tops. Her hands were quiet, there was no teeth grinding and no shouts. She just beamed as the lady brought out the box. We tried them on and walked around, I think we need to look into doing pt in the shoe section of Nordstrom. Her steps were so planned, soft knees that bent and a narrower gait, it was beautiful. She was even patient while we paid and made the rest of the plan for the day. After such a long week, it was sure nice to do something so normal and have it go well. Proof that it doesn't always rain and occasionally there are rainbows after the storm.

yeah...

Captain Awesome has a certain way of saying "yeah" in a way that I really can't portray online, it is a jack of all trades response. He uses it for just about everything regardless of what he really means to say, yeah, is what comes out. I have to say that often this drives me nuts, but I am starting to really warm up to it. I don't know if it is just life or life with rett, but "yeah" seems to be the best response I can come up with these days. Monday was crazy, I assume that you read and if you haven't, reference my last post. Tuesday was nearly just as maddening. Claire had another episode but we spared the trip to the er. The neurologist had apparently called the er on Monday to tell us they could admit us to LPCH but we had already gone home and nobody tried any harder to find us?!?! After several phone calls back and forth, the neurologist had again found a bed for Claire at LPCH so we could get an EEG going and figure out what crazy was going on in her head. We checked in around 9:30 Tuesday night and Claire fell asleep around 2:30 that morning and woke for the day at 6. She was an excellent patient, she had three good freaky episodes and we got it all, we even discovered that her heart drops to 40 just before it happens, isn't that exciting, not really. When the expert came to read the EEG he kept asking if I hit the button when she had the episodes, yes, of coarse I did, but there was no abnormal (for Claire) activity when the button was pushed. She's wasn't having seizures, she has rett syndrome, why didn't I think of that! Claire was getting less patient about being in the hospital bed. We danced on the bed, read stories, painted nails and anything else I could think of, but she was tired, too tired to sleep. She laid there motionless and awake until 4 so I knew there would be no daytime sleeping as we had hoped. With the good news that it was not seizures, I asked to be released. They said no. I lost it. First the attending came in to explain it to me, apparently my sobbing really concerned her so she sent in a social worker to talk through it with me. You know it is bad when the social worker leaves themselves fighting back tears and no real advice other than, here's my card, if you ever just need to talk. I think that by 5 I had cried so much I was dehydrated but I did regain composure. Jared felt it safe to leave and I promised to be nice to any more doctors that I came in contact with. Around 6 the neurologist came in, I tried to keep my cool but it didn't work. She was sympathetic and understood why I didn't want to stay the night. We have a 72 hour EEG at home scheduled in 3 weeks and diastat in the mean time, so they honorably discharged us (instead of making us leave AMA which had been in the conversation). We finally left around 8 and by 9 had Claire home and tucked into her own bed. As I faced reentry there have been many questions, people asking, how's Claire? The best I can come up with is, yeah. Part of me wants to scream "what part of severely disabled do you not understand" but I know that is a little harsh, they are well intended. She has rett syndrome. Since she has that she has these super freaky spells that make her stiff, her eyes close and her tongue turns in her mouth, she darts her eyes at me in a silent plea for help, there is no medicine, nothing I can do when this happens, and as quickly as it comes it leaves. Yes, we are out of a hospital and we didn't go in an ambulance today, so by that standard it was a good day. For having rett syndrome, Claire is doing very well and I can't forget that. With each of these episodes comes something new and wonderful. She spoke three words on Thursday and Friday had such an epic horse therapy session they went long (in 40 degrees and rain), certainly these episodes are not damaging her brain and that is indeed a good thing. But can I just be selfish and wish that we could make small gains like this without having occurrences every day that force me to think, do I call 911 or not? I am sure I will come up with more words if and when I become well rested, but for now, I think 'yeah' about sums it up.

My Valentine's Heart...Attack

Last time I blogged it was a Monday and I wasn't feeling too hot and yet again, I find it is Monday and I feel less than stellar. I was very happy to wake up to rain (it has been so warm and sunny I have actually missed rain, crazy I know) even though my body was clearly not happy about having to get moving, it obliged. Claire was bright eyed and bushy tailed all ready for the big party at school. For us Valentine's Day is almost bigger than Christmas; pink, glitter, hearts, all up our alley. Claire was even a little wise cracker this morning as I was trying to get things together she used her talker to say "mom late" as if I wasn't aware already. We made it to school with a minute to spare and she was off to her mainstream classroom with a sack full of cards to hand out and a huge grin on her face. Chloe and I got coffee and took her gift over to her little buddy Lucas. It was so cute to see them really start to play together. She handed him the little bag and the picture she drew, he gave her a hug and said 'thank you Chloe' in the cutest almost 2 year tone, it was wonderful. Next was Whole Foods, while I am aware not everyone loves that place I do and I was excited to get back into the groove and just try to make myself feel better with business. Just before I got to the exit my phone rang, it was Claire's teacher. She said Claire was having some crazy episodes and asked if I was close, so I went straight there. When I got there she looked alright, I took her and she smiled, she even stood very well. We thought maybe a bit of food would be good so we walked to her chair at the table and sat down. Then it happened, she closed her eyes and clenched her fist, this was different from the other weird creepy laughing spells, her tongue rolled in her mouth and she really looked like she was trying to fight it. Quickly I got Dr. Mary (who I am convinced is actually an angel in a human body) on the phone. You know it is bad when you get the doc quickly, it says that they are really scared too. She advised me and I called 911. I called 911, for my baby, it was surreal. I hung up with them, called Jared and asked him to come get Chloe. I then sat on the floor and held Claire until the medics arrived. During that time the episodes got worse, at one point she went a little purple and I swear my heart stopped beating in that moment. The crazy thing about it all was that in between the episodes, she was pretty close to fine, not 100% but 90% and for us, a good day is 90%. The medics came and we told them that we had hoped to go to LPCH where her neuro was. But since we are out in the sticks they couldn't so we went to the local hospital to get stable and discuss a transfer. When we got there it was scary. She wasn't getting better so the plan was to get an IV in and then give her Diastat to stop it. In the process of the intake, getting the vitals and enough people to get the IV in 30 minutes passed. Somehow, in that 30 minutes the episodes stopped all on their own. Just as they were getting ready to give the medication we decided to wait for one more episode since it had been awhile, and it never came. Slowly the plan morphed from getting an ambulance to take us to LPCH to maybe driving ourselves to eventually just going home because she was fine. We are working on getting the EEG moved up so that we can figure out what to do with this little girl who just loves to keep everyone on their toes. We got home and she had a huge lunch and a good nap. She woke up for dinner smiling and really enjoyed her special Valentine's Day chocolate that she got. It is hard to know what to do with a day like this. It stared normal and ended normal, but man was there a lot of crazy in between. I think that the biggest take away is to know that we can go through something like this and come out on the other side. The medics were great, the er staff was great to us, my friends were there and Jared and I make a mean crisis surviving team. It's all reminds me of the lyrics to the song we had listened to on the way to school, The Beatles: All You Need is Love:
There's nothing you can do that can't be done
Nothing you can sing that can't be sung
Nothing you can say but you can learn how to play the game
It's easy
Alright, maybe it wasn't easy, but we did it.

Really Big Trees

Today I felt like crap. I think it is a combination on allergies, Chrone's disease and Rett syndrome with an element of toddler and oh yeah, it's Monday. Chloe thought it was so much fun to take a nap she pretty much jumped on her bed all the way through it. On the bright side, I didn't have to wake her up in order to go get Claire from OT. It was sheer joy to walk in to see Claire working with her OT, sitting with her legs crossed on the floor, straight as an arrow and working on drinking from a cup with a big smile on her face. Really, other than me just being tired beyond belief, the day was going along rather well. Claire pushed Chloe around in her wheel chair and walked out to the car. By the time we got packed into the car, it was just more than two hours until dinner, what to do, what to do. I knew that if we went home it would be a long two hours, but if we drove in circles and killed an hour in the process of getting there, we could have some fun before dinner and maybe I would make it. To test this out without committing too much, I first drove down by the water. Claire smiled at the ocean, closed her eyes and check out, perfect, now if I could just get Chloe down! Sure enough she dropped on Hwy 1 so it was off into the enchanted forest, or Hwy 9 as some people call it. It was amazing! As I started to soak in how beautiful light is as it filters through the trees it occurred to me, wow, I can see the forest AND the trees. Cliche I know. But really, I have driven this road before numb and not noticed either. As the girls slept and I enjoyed the winding road that went through the towering trees I got to think a bit. I love that I live somewhere that my natural surroundings give me so much beautiful perspective on life. Granted, my life is not easy and I am not just blowing my trials off in some sort of trite manner. But I am starting to see it in more of a big picture sort of a way. While I wish that I could have been home, fulfilling my delusional desire to cover our table in glitter in the process of hand making valentines for the kindergarten class, I was driving around to give Claire's body a break after a long successful day of school and therapy. Today, I am alright with that. Most likely because there was less screaming and more smiling. At the bottom of it all, the trees are really big and quite wonderful and it leads me to believe that somehow, so is my life.

Our Playground

I have to admit that it isn't just because of Rett that I don't like playgrounds. Even before there was anything special or different about us, they just weren't our thing. As time wore on, I somehow lost sight of that and assumed that we didn't go to the playground because we couldn't. Over the last year we have made a few trips to the playground and Chloe loves it, but I don't. I just didn't get that gene. It must have something to do with the struggle that I have with playing, regardless, there has been some guilt, that we don't go often because I really don't enjoy it. The last few weeks we have absolutely epic weather. So I did something very brave, something I hadn't thought to do before. We went to the beach. I know is sounds obvious, but the beach that I am talking about isn't one that is populated with other little children, Chloe is normally the only one. Today the tide was pretty high, so there was no beach, but that didn't stop us from enjoying it! We sat on the stairs and watched the waves crash. I love that Chloe is growing up knowing that little bubbling sound that the ocean makes as the waves recede, it is one of my favorite sounds. We talk about the smell of the salt in the air and how pretty the sun is at it glitters over the smooth parts of the water. Truly I am very thankful that this has been part of my organic experience.

Kid Quest Needs Help

There are so many aspects of our life with Rett syndrome that I hate and honestly begging for money is one of them. Yet I get so many opportunities. I will get my ranting part out of the way first, then move to the begging. On a personal note, the begging comes so hard because of the relationship that I have had with the church (meaning local people) as a result of us becoming a family with disabilities. Prior to being part of this world I never new it existed, it was neatly hidden away, somewhere else, out of sight out of mind. Truly, that is a VERY SAD statement. I know what the thinking of the people I am frustrated with is like, I at a time, felt much the same way. However, it is flawed. So to anyone reading this blog who is not a member of the disabled community, let me clue you in. As Claire's disability evolved, her needs became greater than what we could handle as a family, without support we could not keep her in our home, yes, Rett syndrome is THAT hard. As we realized this there were plenty of well intentioned people that just didn't know what to do, it was one of the most painful and awkward parts of that regression period. I never thought that I would depend on public support, but we do and we have never been so happy to pay taxes. I wish it wasn't so, that the church could give us the support that we need, but sadly the world has come to a place where that is just not how it works. So, in the void of a community that we expected to be filled by the church, we found Kid Quest. It is a house full of wonderful loving people who just hang out and have fun, which is pretty much the thing that Claire needs more than anything else. She goes on Thursday nights so that I can get a break from giving her dinner once a week. They have theater day and put on play and all sorts of wonderful shannanigns. It was through her time at Kid Quest that I learned Claire liked the Beatles, who knew? During the summer they will go to the boardwalk or bowling. it is a place that I can drop Claire off without worry. I know that they are 110% capable of meeting her needs and keeping her safe. She has gained so much confidence having a place like this to go and hang out at. In rettland we discuss the rich environment and getting the wires to fire together, certainly, Kid Quest does this so much better than most of the therapy that we go to. So you can imagine the sick feeling in my stomach as I read the email that there was a $75,000 shortfall and unless the center gets some money fast, it would be closing it's doors at the end of February. That isn't much, it really isn't. It is more than I could write a check for, so here I am begging again. Please, if you would like to help the families of the Santa Cruz area or just Claire, consider making a donation. You can visit this link, then click on the fundraising tab on the left or you can mail a check to 704 North Plymouth Street Santa Cruz, CA 95060 checks made payable to Balance 4 Kids as that is the 501c3 that runs the program. Thank you very much for your support!

Silent Angel...Not So Much!

I am sure that most of my rett friend readers have heard the term "silent angel" in reference to the girls that have been diagnosed with Rett syndrome. I imagine the term references that the girls don't use words spoken with their mouths to communicate. However, Claire is far from silent. First of all she has a voice through her computer and secondly, there is nothing quiet about Claire. Weather it is her laughing or screaming or maybe grinding her teeth, certainly none of these things make me think of silent. On Friday Claire's computer had an error that required me to call tech support. Of coarse Miss Amazing remembered roughly 30 seconds after they switched their phones off for the weekend, drat! With that as the stage, Friday afternoon and evening were pretty painful. Claire wanted to talk and she made it abundantly clear she was not happy. It was an emotional 5 year old, why are you doing this to me cry/scream that slowly ripped my heart out as it went on. We were aggressive on keeping the fun levels up over the weekend and that helped take the edge off her missing voice. Monday passed, it was long, but aren't they all? Again, I didn't call tech support in time but at least Claire's allergies were bad so between a long nap and being out of it at dinner she hardly noticed. Tuesday was my day! I got on the phone and the great tech support at PRC walked me through resetting it to factory settings, problem solved! Too bad I hadn't backed up the device since September, drat! Oh well, what's done was done, I was having a good day and wasn't going to let that set me back. I even took the time to help Claire walk to the dinner table and she did so well! Too bad Chloe tipped too far back in her chair and went crashing down with a loud thud to her head. Buckle Claire, attend to Chloe, situation back under control and tada, Claire's talker is working! Right away Claire started saying all sorts of things. Typically when she says something, she pauses and looks for a response from her audience. But she wasn't looking away at all, it was a run on, she looked stuck. I gently turned her cheek toward me and told her that it was alright to take a break from her talker, that she could just look at me and we could chat. Immediately tears welled up, her glasses steamed up and the whaling began. Chloe looked at me and said, "Claire's mad Claire's sad" what a perceptive little girl. It was an hour of the high pitched mad as hell business. She never ate her dinner and got into her pj's screaming. There is no doubt in my mind that she is a sweet little girl and that my life is better with her. She is strong, smart, funny, caring, loving and so many wonderful things. Silent, not so much.

Brene Brown: The power of vulnerability | Video on TED.com

Brene Brown: The power of vulnerability | Video on TED.com


This is a really great 20 minute video from Ted. I so appreciate all of you that are on this journey with me, those close and far away. The connection that we share online really truly helps as I continue on this path that Rett Syndrome has led me down.

The Rett Clinic, not what I expected

Last Friday we made the brave journey all the way to Oakland to Katie's Clinic for Rett Syndrome. So maybe it wasn't that harrowing of a drive, but I really don't like roads with more than two lanes and this trip involved lots of freeways. For this journey I was blessed to have Kat come with us. I love Kat for a lot of reasons, I might at some point just blog about that, but for now, here is a short list. 1. She accidentally taught Chloe to say 'dude' just by modeling it. 2. She wears jeans a t-shirt and either vans or cons, just like me. 3. If she were to be a character from a book it would be Amelia Bedelia 4. She has no other affiliation with the special needs world other than Claire, but she loves her and treats her like the normal little girl she is. 5. It is impossible not to have fun when she is around. And yes, that is the short list. Anyway, we got there and I got right to embarrassing myself. While Claire and Katie (as in Katie's clinic, she is such a cool girl!) hung out I went up to the desk to ask if I needed to fill out forms, sign something and offer insurance cards. Turns out the lady sitting there was the neurologist, not the receptionist, oopsie! I honestly don't remember much of what was said during our appointment with her, she started with how old were you when you had Claire and my brain went numb from there on. I do know that we are looking into booking ourselves a lovely suite at LPCH for a long EEG and hope to get the activity on the monitor before any decisions are made. As soon as we were done with the neurologist we split and went to Fenton's to meet up with Erica and Nolan. Really and truly, this was the absolute highlight of the day. No, it wasn't the highlight because the ice cream was so good, although, it was very good. It was a simple text and a small thing that made it. I have known that Erica is a great friend, then as we planned this a week before she offered to get there early and save a table so we wouldn't have to wait. As we drove there, yes, again I was running late, she texted me and asked if she could order food for the girls. I know it sounds really cheesy, but it was then that I thought to myself just how great my life is. I have the BEST friends. We got there and again, I was humbled by a small thing, Kat sat between the girls. Restaurant etiquette states that the point man be strategically seated between the two children and the wing man on the end. With Kat running the show, I was not only able to chat with Erica, I even got to eat while my food was hot, amazing! Chloe and Nolan did there typical super cute kid stuff, Claire ate an entire bowl of ice cream and we shared a lot of laughs, it was great!!! We went back late, but with such such a lightness in my heart, it was great! The second half of the appointments was about 4 hours. We saw a lot of people who all seemed to share the same opinion, Claire is doing great! I guess my work with her is not done for now, rather keep it up, but we just have to maintain. While that really is a best case scenario, it feels like I am being asked to drive across the country at the exact same speed with no cruise control to keep the bomb from going off. Keep it up, for longer, um, I think I can, I think I can... but with friends like this, it really isn't a question, I know that they will be with me for the drive and if I swerve off the road or the bomb blows up, they will be there with me through that too. All that to say, the doctors, not all that exciting, but I have some really great friends and I am very grateful for.

Silly Monkey

I know that I talk a lot more about Claire on this blog than I do about Chloe, mainly because if it was just fun little Chloe I wouldn't need a blog to sort through all the mess of my head, she is easy! I never understood why people would want to have such large families after having Claire because just the one was so exhausting. But now with the perspective that Chloe offers, I get it. Chloe gives, she gives joy, she gives life, she offers freely. While it might just be my incredibly biased opinion, I think that Chloe is very special. For starters, she is smart! Yes, I am a proud momma. At first I tried not to think about it much. I didn't look at developmentally where she was supposed to be because I have found those charts to just be depressing. In the last few weeks her language has exploded and several people have told me how advanced she is, I have to say this is something new to me and I like it. Tonight, as Claire surprised us be standing completely on her own for 15 seconds Chloe exclaimed "AMAZING!", it was so sweet. Not only is she sweet, she is so compassionate and caring. When Claire gets upset Chloe will look at me and say "Claire is sad." then walk up to Claire who is normally bright red from screaming and crying and will kiss her forehead and tells her that she loves her, as I think to myself, AMAZING! When we walk away from people she says, "bye, take care" and also greets people with a "s'up dude!" and some sort of silly expression. Not only is she smart and a sweet spirit, Chloe is a girly girl! How has this happened to me twice? I am not sure, but Chloe looks to outpace Claire with her love for princesses, tutus, jewelry and makeup. She is our silly monkey, such a special little girl that I am so grateful for. I just love getting to spend the days with her and all that she is teaching me about laughter, fun and general silliness.

Enough?

How much is enough? How many hours of PT and OT? How much respit? How much equipment? When we got the diagnosis this in one of the things that was right in the front of my mind. I wanted to go as long as we could before having to advocate and fight. At that time, the idea of a severely disabled child seemed so far off, and in some ways it still feels that way, in others it doesn't. Claire is doing very well right now. By very well I mean that she wakes up alive in the morning and is present throughout the day. Sure there is a lot of screaming and crying and she isn't doing any brand new things that are mind blowing (like standing up and walking away) but she is doing small things that I had forgotten to hope for. With that said, it doesn't seem all that broken. But then we talk to other families, learn what is working for them and a mean little voice creeps into my head, maybe we should be doing that too? Why is it that being content with this is so hard?!?!?!? It is certainly guilt and fear driven, what if there is something that I could have done more of that would have made a difference? Well, I guess we will just never know. I am mentally psyching myself up, today we go over the hill and through the city to Children's Hospital Oakland, to Katie's Clinic for Rett Syndrome. I had hoped to not go this year, but with the creepy seizure or neurological craziness that is going on, I called and they were able to get us in. These people are the experts, they see lots of girls and know all the stuff to recommend. They know what kind of equipment might help, what type of therapy to do and other stuff that I wouldn't know. We normally get a report a few weeks later with a short list of things to do. But honestly, I don't want a list, I would like to be done please. I would like to hear that I have done all that is humanly possible and that I can just enjoy Claire the way she is and not worry about the future. Is that too much to ask? I know that won't happen, at the minimum I see a long EEG in our future, maybe some seizure medication. Perhaps somethings for scoliosis and advice on getting BMI up. So here goes, off I go to walk that fine line, advocating and getting what Claire needs, but not getting greedy and trying to get things for her just because we can, enjoying her for all the joy that she is while grieving that we are going to a hospital because her body doesn't work right, and of coarse getting some ice cream along the way.

Play time?!?!

It isn't much of a secret, I am much better at working than I am playing and honestly, it makes me a little sad sometimes. I know how to slow down, relax, soak things in, but play or have fun, not so much. I really gave it a good try when Claire was born. I tried so hard to not be the sum of the tasks involved in taking care of a baby. For a while, I was really doing well. Then life got a little crazy. But I was convinced to get back on the wagon and keep trying to have fun when we moved to Santa Cruz. If there was ever a place to blow life off and play, it's Santa Cruz. We didn't know it at the time, but Claire's regression had just started as we unpacked the boxes and tried to get to our new, and fulfilled groove in Santa Cruz. The best that I can explain my relationship to Rett syndrome is to that of an alcoholic working in a bar because somebody is holding a gun to their head. I've always loved to work. I had a full time job as a salaried banker lined up 4 weeks before I graduated from high school. I was blessed with a situation where my parents begged me to just go to college and enjoy being young. But no, I chose to work instead of have fun. So with that as the context, I had a very playfully productive week last week!!!! I am so proud of myself that I just had to share it with you all. Please note that I wish all of you would come join us for some fun, as I am figuring out, it is something that is much needed if you are going to survive the rett roller coaster. So here is the week in pics, Monday we went for a walk and it was so nice we decided to go for a walk again on Tuesday, these are pictures from two different days if you can imagine.
Wednesday Claire had ABA at home, but her screaming and having other people in our house didn't stop Chloe and I from having our first (and I doubt last) princess dress up fashion show.I don't have a picture for Thursday, we went to Music Together and it was really depressing, despite Chloe being undeniably adorable. I am sure it will be a blog in the future, maybe once class starts and I get through one without crying, but for the record, I attempted to have fun. Friday was a surefire fun day! We started at the beach with some friends, then went to horse therapy, which I know is technically work, but our insurance pays for it and we pay the rest privately, so it seems more like a fun thing than a state granted therapy that you have to meet goals for. Captain Awesome joined us, he is always good for a big dose of fun!

Drum roll.... on Saturday I went for a message, not because my back was so bad that I couldn't move. More because I wanted to, I knew it would help to keep me from that place where I get stuck in bed for days on end and I could, so I did. Because I am a crazy person, I requested to listen to Mumford and Sons which was really, different, but yes, fun! Now I am leaving, just before dinner, to go have a cappuccino at Verve and play on our new iPad and try to figure out what it does. Huge thanks to Captain Awesome for making each of these fun days possible and for helping me remember how to laugh.

Of Course I Can

A few weeks ago we took a quick trip down to the Monterey Bay Aquarium (MBA). We decided to go late in the afternoon instead of first thing. With this change in schedule we were able to see the otter feeding, something that in my delusional mind, would be fun for the girls. Claire and I went up a few minutes early to get a good spot to see the show. As people crowded around, she got overwhelmed and just as the feeding started, totally lost it, so we retreated. As soon as she had some space she was fine, so we opted to watch on the video screen below. The trainer was telling the crowd how the feeding wasn't just a play time, rather it was also a period of a rich environment that the otters learn important skills they need, and with that I stopped breathing. That sounded so familiar! Here all sorts of people were gathered around and so interested in the rehab of these otters, as they stared at Claire as she rolled around the exhibits wringing her hands. Don't they get it, she needs a rich environment too! With that, we went home, me with a pretty heavy heart. Fast forward a few weeks, the Layton family was hanging around in the area and we were able to meet up with them at the MBA. I love being around Maren and Leah and couldn't think of a better way to try my hand at being in public again. We showed them all of the highlights including the hot pink flamingos exhibit. At the end of it, is a display about changes everyone can make to help, Maren found the picture that said it all and it was then that I knew this would be my theme for the year.
It was a good thing that Maren's husband Ryan was there, he watched all three girls while we had our picture taken, which I have to say I was very impressed with. I just loved the expression on the lady in the picture, because regardless of what I look like, that is how I am feeling almost all of the time. Five days have now passed since our fabulous play date with the Layton family. Today I found myself having to wake Chloe up to go get Claire, we were already 10 minutes late when I went to get her only to find that her shirt had obviously been used to wipe off her hands after having them in her poopy diaper. With no time to spare I took her little poop cover self and strapped her in the car to get Claire. Once we were home, the first order of business was to change Chloe. Of coarse I got her completely naked before remembering that the diapers were still in the car. So I put her down to run around while I fly down the stairs, but before I go out the door I see that Claire had fallen asleep on the couch. I knew that if I left her there she would certainly end up with a finger in her eye or a naked butt on her face, so I quickly laid her down on our bed. I then again started to make my way for the car when I saw Chloe, standing on the carpet in the hall, peeing, sigh. Went down got the diapers and got Chloe dressed. By that point I was laughing, in a crying sorta way. Then I got a message on my phone and saw the picture "OF COURSE I CAN" it's my new background, a much needed reminder. I really wanted to have a giant pity party and sit in the corner and eat my weight in sugar, but Claire was waking up so there was no time for that. So I did the next best thing, I ate sugar with the girls. I think that a large part of the pity party and my frustration in general is that we are no longer in crisis and I am not sure what to do with that really. Aside from the creepy neurological activity that has been pretty random, Claire is doing GREAT!!! At school today she used her talker to get popcorn that her aide was having as his snack, she is calming down pretty quickly, standing better, getting more confident with her walking and learning a bunch of academic type stuff too. So other than the fact that she has Rett syndrome, life is actually normal right now and is scares the daylights out of me. For years I advocated like hell, pushed insurance companies and had IEP's every month or two. But I don't have to be doing that right now, it is all working like a fairly recently oiled machine. So without the need to work on sitting, standing, hand use or anything else, we made brownies. When I first had the thought it seemed so logical, Of coarse I can. And you won't believe it, I did! It was my first cooking demo with both girls and it was great! We then watched Beauty and the Beast while they baked and following that had a dance party to veggie tales while I folder little link clothes. For the icing on the cake, after dinner, Claire pooped on the potty, for the third night in a row!!!!!!! All that to say that I am not entirely convinced, but I will keep saying it out loud until I believe it, OF COURSE I CAN.

This much I know, it wasn't boring

I just looked at the calendar and noticed that on Saturday, it will be a whole new year, wow, that was fast! I have to say that all in all, I think it was a good year for us. It wasn't easy and certainly wasn't boring. It started off a little rough. I was in a terrible amount of pain from injuries I had gotten in an accident the previous March. After having a really great trial with the Eco we had to send it back and again, Claire had no voice, which she found very frustrating. Chloe was just starting to really do all of the things that Claire had once mastered and then lost which felt a lot like having my heart constantly ripped out and stomped on. However it was through that craziness that I got back to a place where I started to feel again and I can not say how wonderful that has been. I think I had been pretty close to a zombie, trapped on a hamster wheel of survival for a solid 2 maybe 3 years and this was the year that I got off. February was really the month that changed the pace. First I had surgery on my wrist which really helped once I recovered. Since I wasn't much use with one hand I got to sit and have my tattoo finished, which was such a good way to really feel, I am still surprised at just how therapeutic that process was. Then we had Erika's Dream which was a lot of fun. There is something so rejuvenating about being around our Rett family, they just give life. Then Make A Wish sent Claire and our family down to Disneyland to meet Ariel. That was a game changer, really, Make A Wish is awesome. The way that trip encouraged and inspired Claire was transformational, it gave her the confidence that she carries today. I think it was around the end of March that the Eco came, that was also a huge part of this year. I can't imagine life without her voice, even when it is annoying and she says the same thing 30 million times in a row, I love it! I would have never imagined that Claire would be teaching her sister how to say silly things, but with the Eco that has happened. Chloe has grown by leaps and bounds by the minute the whole year through. She is such a sweet and caring little girl. I have loved getting to know her spirit and seeing what is possible when all the DNA gets in the right order, it is amazing! Before Chloe I honestly didn't get why people would want to have so many kids (more than 2) but now I can say that it makes a lot more sense. No, that is in no way an announcement, we are very content with 2 little girls, if I were to guess, the next thing we add to the family would be a male service dog. Back to the story, this summer I had my first and most likely last trip to Las Vegas. I got to spend time with some of the greatest moms that grace this planet today and with no kids! Erica dubbed it the rettaway and I am hoping that something of that nature lines up again for 2011 because it was epic. I think that one of the defining things of the last year has been the deep friendships that I have made within the rett world. Even though many of them are not really close, just knowing that there are others out there has given me great peace and I love you guys so much! If there were a metaphor for this last year I would compare it to a scab. The injury wasn't super fresh, but it hurt. As it heeled and peeled off it was a different kind of fresh hurt, but I could start to use it more. After this year of having the scab picked off and regrow and eventually heal, there is still a little scar tissue, but I am functional. I am excited for 2011. If there is anything that the last year taught me it was that I don't dream big enough. So with that, I suppose that I can't even start to think about the fun and exciting things that will take place in the next year, but I know that it is out there, and I am ready for it! I am hoping that among the fun stuff for next year is a trip to Boston in May and since I am working on the whole dreaming big thing, I am going to through out that I hope they announce the cure while I am there, that would be really, really cool! Final thought, I have decided that Sigh No More by Mumford & Sons was my theme song to 2010, so here are the lyrics for you.

Serve God love me and mend
This is not the end
Lived unbruised we are friends
And I'm sorry
I'm sorry

Sigh no more, no more
One foot in sea, one on shore
My heart was never pure
And you know me
And you know me

And man is a giddy thing
Oh man is a giddy thing
Oh man is a giddy thing
Oh man is a giddy thing

Love it will not betray you, dismay or enslave you,
It will set you free
Be more like the man you were made to be.
There is a design,
An alignment to cry,
Of my heart to see,
The beauty of love as it was made to be (x4)

Christmas 2010

Over the last few weeks there have been a lot of posts out there about what people have been doing to celebrate the holidays, how the holidays are hard and how cute their kids are in special holiday attire. So the holiday celebrating was supposed to start Dec. 1. For the second year in a row, I forgot to get candles for the Menorah so the Festival of Lights was off to a weak start, really I think 2011 will be my year, it is later in the month, which I am sure will help. We did however manage to pull off a few successes in the weeks leading up to Christmas. We took the girls out to look at the lights in Vasona park and they really liked it. Considering that the last time we did it Claire was screaming in the entire way through, followed by vomiting , which explained the screaming, this was a huge success.

We also put up a tree and had the sense to buy a fake one that was pre lit, so it even had lights. We only got four ornaments on it, I figure I need to leave something to improve on for next year. There was also a very successful trip to the Christmas party for where Claire rides horses. She was very excited to see Santa and as it turns out, Chloe was not. On the bright side there was a firetruck for her to play in so there wasn't too much crying.
Beyond that, we really didn't do much during the advent season. With that said, it has been a huge improvement from the last three years, so I am pretty excited about it. The thing that really made this year stand out over last year was that we got to be with family. Last year was a bit depressing doing Christmas just the four of us, Jared and I were the only two who could speak. Claire was hating life without her talker as we had just returned it from the trial and Chloe was more of a danger to herself because she could get into things but didn't have the understanding of what she was doing or consequences so she was a handful. What a difference a year has made! Claire has really started to be able to better express herself with her talker and Chloe has grown by leaps and bounds. Instead of sticking her hand in the fire she can now stop and say 'no that's hot no no no' which really helps, A LOT. We drove down to San Luis Obispo and met up with my parents and my brother. We took a boat ride on an electric boat in Moro Bay, Claire has always loved going on boats. This was Chloe's first trip and she wanted to get off and tried repeatedly to jump into the water, by the end of the trip she settled on steering.
Sometime after our boat ride Claire started having some extra weird neurological activity and that sorta put a damper on the cheer level for Jared and I. We tried and to just push through and enjoy the time with family and it was nice. It was the most fun we've had opening presents (my rett friends out there know just how horrible this activity is) since Claire was 1. I am guessing that night we just didn't get enough sleep or the month of advent caught up to us. But Christmas Day wasn't the smoothest of rides, although rather eventful. During the chaos of trying to keep both girls happy at the breakfast table,
Jared put the crayons in Claire's juice, which was a lot funnier than it was frustrating, only because he immediately labeled it a Captain Awesome moment. It was pouring rain outside so we had to stay in. Chloe made friends with many people as she went up and down the stairs and up and down the stairs. Claire fell asleep by the fire as I sat and cried, mourning all of the things that rett has taken from us, struggling to be thankful that at least she is doing well and still with us, thinking of the two families that had lost girls recently. We wrapped up the holiday with a family picnic in my brother's room. The only place in town was a taco shack and so that is what we had for dinner. It felt reminiscent of A Christmas Story and a small part of me wanted to break out into Deck the Halls with the ra-ra-ra from the movie, but I was too tired. We drove home that night, a little early. As we laid the girls down and got settled back in, it is good to be home, I am thankful for a lot and I am so happy that the holidays are over! Now onto fixing Rett syndrome in 2011, who's with me????

Field Trip!

Since Claire has started kindergarten, she has 35% of her day in inclusion with a mainstream kindergarten class. Last week they went to the children's discovery museum and Claire got to go along for the whole day! I knew that I had to go guarded but that I would have to go. I drove Claire, her aide and another little girl from the class. Lucky for us, there was an accident so the 40 minute trip took an extra hour and used up all of our boredom margin in the process. Once we got there is was a little rough at first. The first exhibit I saw the kids playing in was the access/ABILITY. This was the exhibit that the teacher was so excited about for her peers to see. See it they did, one girl played in a pediatric wheel chair and wheeled her self around. How horrible is it that I watched this all I could think is, that is hardly disabled, sure they can't walk, but that's it. Show me a blind person with CP, that is disabled. I don't really think mean things about people who are confined to wheelchairs. really, I have friends with that singular handicap and it by no way shape or form easy. It just seems like what we have is so hard! So hard that an exhibit would never even think about ABILITY on our level, what it takes to get Claire to participate in life. So with that I sat hiding in a corner after a short time I could hear Claire as she was clearly not happy and her aide didn't have a clue. I stayed back and really tried to let Lupe, the aide, do her thing, but she didn't so I stepped in. I have to remind myself that Claire is in an autism classroom and the aides are trained to work with that population, it is easy to forget that Claire works very differently because similar behaviors present. So Lupe was trying to calm her sensory system when I stepped in. I asked a few questions and figured out that Claire was lonely. Lupe had been playing one on one with Claire, while Claire wanted Lupe's help to play with her friends, a very different thing. Once we figured that out, Claire did a little of her heart wrenching sad crying and calmed down. I can't imagine what it would be like to be 5 and want to play with your friends and just not have the ability to get the grown ups around to help, so I really think the screaming was fully warranted. I took them to find the classroom teacher Mrs. J who would know who Claire's friends were. She pointed them in the right direction and Claire was happy as a clam. The teacher also took the time to ask me questions about placement and weather or not Claire was in the most appropriate class. I know she was well intended but it pretty much came across like, "I don't think this is good for her." Sigh. I know it is hard, but sadly, it id the best option and it took me about 15 minutes to explain this to the teacher, not sure that she ever got it. Claire went on to make a corn husk doll and play in the clay room where she again got a little upset, only because she was starving and a little snack fixed that quickly. By that time I had also showed Lupe how to use the yes/no cards, that helped a ton! We finished up with face painting, where one of Claire's friends, the little girl in the car with us, painted Claire like a tiger. Claire loved being a tiger, loved! We sat and enjoyed lunch on a park bench with her peers and left happy. I am so glad that Claire gets over things faster than I do, her perseverance continues to amaze me. In the end, we did it! We went to the museum and we left with smiles on our faces, I do think that it will be a long time before we go back though.



On a side note, I want to share this very exciting research. It pretty much says that what we are doing really works. Putting Claire in a rich environment really is critical to her brain development, so we will most likely continue to torture ourselves with fun stuff like this until we get the medicine in the trial, in which case hopefully we will be able to do the same fun stuff, it will just be less torture because her brain will fire better.

Clinical Trial For Rett Syndrome Launched

Study marks the emergence of disease-modifying treatments for autism spectrum disorders

BOSTON, Dec. 16, 2010 /PRNewswire-USNewswire/ -- Researchers at Children's Hospital Boston have begun a randomized, placebo-controlled trial to test a potential drug treatment for Rett syndrome, the leading known genetic cause of autism in girls. The drug, mecasermin, a synthetic form of insulin-like growth factor-1 (IGF-1), is already FDA-approved for children with short stature due to IGF-1 deficiency.

The trial, now enrolling patients, marks the beginning of a trend toward drug treatments seeking to modify the underlying causes of autism spectrum disorders, rather than just behavioral symptoms such as anxiety or aggression. It follows research in animal models, published in 2009(1), which suggested that raising IGF-1 levels can reverse features of Rett syndrome by enhancing maturation of synapses —the points of communication between brain cells.

"We expect that therapy that stimulates synaptic maturation will serve as a model for pharmacological treatment of not only Rett syndrome, but of other autism spectrum disorders," says Omar Khwaja, MD, PhD, the study's principal investigator and director of the Rett Syndrome Program in the Department of Neurology at Children's.

Rett syndrome, occurring almost exclusively in girls, is an X-linked neurodevelopmental disorder causing severe cognitive, motor and language problems and autistic behaviors. Other features include loss of purposeful use of the hands; repetitive, stereotyped hand movements; slowed brain and head growth; and heart-rhythm and breathing problems. Although affected children appear normal during their first six months of life, symptoms emerge, tragically, between 6 and 18 months of age, a prime period of synaptic development.

The three-year pilot study will randomize 40 girls (aged 2 to 12) with Rett syndrome to receive the drug, known as Increlex® (Tercica Inc., a Subsidiary of the IPSEN Group) for five months. The study will use a cross-over design, allowing girls assigned to placebo to switch to active treatment after a six-week "washout" period. The main outcome measures will be improvement in neurodevelopment and in cardiorespiratory function.

Although Rett syndrome used to be seen as a degenerative, irreversible disease, recent research indicates that brain cells aren't actually lost, and the brain is structurally normal – instead, the synapses between cells are weak, preventing brain circuits from maturing. Rett syndrome's usual cause is mutation or deletion of a gene called MeCP2, which itself controls a group of genes that regulate synaptic changes in response to input from the environment. In 2007, working with a mouse model of Rett syndrome, researchers used genetic tricks to restore MeCP2's function in the brain.(2) The mice showed a striking recovery, suggesting that Rett syndrome, even when well established, might be a treatable disease – if only synapses could be built back up.

"This was an enormous intellectual proof-of-principle that we aren't wasting time thinking of therapies for girls who are already symptomatic," says Khwaja. "Before, it was thought that if there ever was a treatment, it would have to be given before symptoms appeared, and that once the disease started it couldn't be reversed."

IGF-1, the drug used in the trial, is indirectly regulated by MeCP2. It has been shown to enhance synapse maturation, and in mice missing the MeCP2 gene, treatment with IGF-1 ameliorated several features of their Rett-like disease.(1)

"There's been a big sea change in how Rett syndrome and other neurodevelopmental disorders are viewed," Khwaja says. "The synapses are very dynamic. They need to be stabilized, and if they don't receive the right stimulus, they'll naturally disappear. That change in paradigm has really affected the way that we look at treatments, and I think it brings a lot more hope."

The new view has already affected the way schooling and education of children with Rett syndrome are being approached. "There's more and more evidence in animals that enrichment and schooling can help synapses form and strengthen," says Khwaja. "The battle is getting the girls into appropriate educational settings. If you are repetitive, and give them ways to communicate, they actually can learn, and that's probably because you're reinforcing these synaptic connections."

The clinical trial is funded by the International Rett Syndrome Foundation, Autism Speaks and Harvard University's Catalyst Pilot Awards for Clinical Translational Research. For information on enrollment, contact Katherine Barnes (katherine.barnes@childrens.harvard.edu; 617-355-5230) or visit www.childrenshospital.org/rett.

My Little Slice of Joy this Season

It might not look like that exciting of a picture, just some dirty dishes, but to me, they are so much more! With the background that I have in pastry, I love the candy cane and gingerbread Christmas themed stuff, for several years I had the honor of assisting on gingerbread works of art at the Westin and I am forever changed. In my soul I wish I was in the Midwest snowed in a baking cookies and other such holiday traditions that are cultural like that. So a few years ago, when I saw this set of mugs and dessert plates with joy on them, I decided it was something that I had to have. They have been very safe in my cupboard, although they have been lonely. Since getting them in 2008 I had yet to use them. Tonight was the night that that changed and it was wonderful! Not only did I get to use my plates and mugs, I got to cook for friends, which is one of my favorite things to do in the whole world. Erica and Maren came over for our advent conspiracy type craft night. I really didn't do much, I was more in a management role really. I had hands available to hold a tight knot or take excess trash away. Erica was the mastermind behind it all, doesn't she look crafty!
Maren, well, she gave a good effort, you can see that she had a few challenges. I kid, Maren is the craftiest of the crafties. She just happened to have a little bag of hair clips and earrings that she had made (who makes jewelry more or less wear it???) and left the cutest pair of little purple flower earrings that I think a certain 5 year old will be pretty happy about in the morning. Anyway, back to our night. I could go on and on about how we laughed, made a mess and sent Jared to the grocery store. It is a good story and I suspect pieces of it might end up out in the blogoshpere from my partners in crime. But for me, I just liked having friends over, a lot. I have been really blessed to get to have two moms like this close enough that they can come over, even if it is a two hour drive.

The Irony of Christmas

Today was one of those days, you know, those days that you feel too close to loosing the will. It wasn't anything too big, a few crazy teething poop diaper blow outs, an ant hill that ended up in Chloe's hair along with Claire's frustration with my inability to read her mind resulting in several bouts of sad/angry screaming. Then it was dinner time. Jared went to pour Chloe a cup of milk when I noticed that the milk was almost gone and we wouldn't get more until Thursday, wait Thursday, we pick up the veggies and milk on Thursday, today is Friday, nobody got the milk and veggies yesterday, it was this realization that pretty much threw me over the edge. So I did the only thing I had energy for, I locked myself in my room and went to facebook. Something so oddly numbing about that site, comforting and isolating all at once, it seemed an appropriate place for my pity party. I chatted with two of my rett mom friends (btw, so thankful for you guys, chatting helps, I do feel better). One of them said something interesting, about it being that hard time of the year. Her daughter is younger than Claire and this will be her first Christmas with the Rett syndrome diagnosis. Funny how holidays in general aren't easy. Add a kid who can't use their body and they get a lot harder. It got me thinking about the O'Rourke family, who laid their precious little Aidan to rest today. I hate that Rett syndrome takes children, I hate even more that it can happen during any period of time that is "supposed" to a time of joy and celebration. It is so hard to get excited about Santa at the mall and baking cookies when pain like this is so close to you. I know that none of that really has anything to do with Christmas and the birth of Christ, but it has become culturally accepted that that is what we do to celebrate. Tonight I am stuck on this great irony, that as we all slow down to celebrate the birth of the Christ child, a messenger of peace, that it is such a painful time for so many who have experienced loss. Ultimately, it is the peace that I have from the grace I have in Christ that gets me to keep putting one foot in front of the other on these hard days. I guess I just don't like that the way we go about celebrating so often excludes our girls because of their disability. I would love to hear what others out there is blogoshpere think, do you find it hard to celebrate, how do you do it?

LPCH, where everyone's the same

Yesterday was a pretty routine day for us, with the exception of a little trip over the hill to LPCH for Claire to see the eye doctor. Jared decided to take the day off so that I would be spared from taking Chloe along to Claire's appointment. After dropping Claire off at school we started the day slowly with coffee and a walk down to pleasure point, to say that it was epic is indeed an understatement. As we walked and enjoyed the sound of the waves gently crashing we did the download on all that the day contained. I really wasn't that worried about the trip to the doctor. It was a routine appointment and the worst that would come of it would be glasses. Funny how even on a good day, with the sunshine on my face and my husband by my side to help, deep down in there was a little bit of fear. We have so many memories from LPCH. Most of them involve needles and Claire or some sort of doctor telling us how worried they were. As much as I tried to believe that today would be different, a little voice inside me quietly whispered, she still has Rett syndrome. With that I was able to soak in the beauty of our morning walk and knock off a few things on the to do list before it was time to get Claire and start on the day's journey. We didn't have much traffic and we actually got there on time, which in itself is a small miracle. After checking in it was time to do what everyone else in the busy waiting room was doing, wait. It is an interesting area due to the variety of doctors serviced by that area. The lab is there, so you can hear young kids screaming as the friendly vampires do their best to stick them with needles and suck their blood in the gentlest of ways. There were a few people in wheel chairs and lots of people with glasses as the clinics that were open today were the orthopedist and the optometrist. A sweet and healthy little boy that was standing in front of us turned to look at Claire and said with so much care in his tone, "Did you break both of your legs?" She smiled and I told them that they weren't broken and he smiled and walked away. One dad that was patiently waiting struck up a conversation with me, he was there with two of his kids. They are both in different stages of the scoliosis surgery process, his eldest child also has scoliosis but hasn't had the surgery, yet. Got me thinking, they looked like such a normal family, kids dressed in varsity gear from the local upitty Palo Alto high school, but none the less, they were sitting in the same waiting room that we were. There were also families that looked to be of far more humble means. As I said to the father that I was not in line and that he could go, his son translated for him. There were people from so many different backgrounds there, so many different medical challenges. Reminded me of how we are all the same, so vulnerable, so helpless when it comes to our children. Finally we were called back and Claire was her 85% of the time wonderful little self and did everything that the doctor required of her. When we got around to seeing THE doctor she was so excited to see Claire. She remembered us from 3 years ago (memorable in a good way I hope) and that she was so glad to see that Claire was doing so well. That is code for "we expected her regression to be much worse and for Rett to have taken a lot more" but at least she chose to put it politely. I am also very glad that Claire isn't doing worse as they all had expected. So we took our script for glasses, packed up all of our gear and piled into the Smart car. We paused under the big tree before driving home to marvel at the leaves, to put it all back into perspective, that we all have a lot, that God is bigger than us and that He loves us enough to make really great children's hospitals that everyone can afford and then we drove home.