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.



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.



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.