Close but no cigar...

First, I need to write a retraction. I firmly believe in innocent until proven guilty and after today's appointment, our medical team has decided that they are not sure if Congenital Muscular Dystrophy is what we are looking at. Don't get me wrong, CMD is still a prime suspect but right now we are just not totally sure if the glove fits...

 Congenital Fiber Type Disproportion has been proven guilty, we are just not sure of who its mother source or it's leader is. It, just like hypotonia are accomplices to a bigger criminal, our leading diagnosis. And that remains a mystery. 

So after a 4 hour appointment and sitting in a small hot room with a bunch of people much smarter than I, all we have is a half diagnosis and an explanation from our doctor that he feels as if he jumped the gun, clinically diagnosing CMD. He told us that 10 years ago, doctors may have diagnosed the disease just based on clinical observations but with today's science, we have a few more culprits we have to rule out. More on "today's science" later.

 One culprit that is currently taking center stage is a nasty brother to Congenital Muscular Dystrophy, it's name is Congenital Myotonic Muscular Dystophy. What makes this guy so much nastier is that in order for Charlotte to be affected by it at birth (congenital), I would have to also have a milder form of the disease that may or may not rear its ugly head in my adult life. And even crazier is that my mom would have an even milder case most likely. This form of muscle disease gets nastier with each generation. They sent off Charlotte's blood today to be tested and we should know in 2 months if this is what we are dealing with. 

Also our doctor nominated us for a clinical trial, a whole exome sequencing test at Children's Mercy and we will find out sometime this fall if Charlotte is selected. Let me tell you, it is a weird thing to be nominated for a medical test that should be available to all. Waiting to hear if your child is sick or "interesting" enough to get selected is a very strange feeling. That being said, we really are praying she is selected as this test is very very very expensive and there is no way our insurance will pay for it. If you don't know what whole exome sequencing is and you are interested in new science you should google it. It's pretty cool what all they can see through a microscope now. 

Which leads me to today's science. Our doctor and the genetic counselor said that really Charlotte doesn't fit in any already easily established boxes and that they are not sure if today's science has even caught up with her "abnormalities." And guys, we aren't special, there are thousands and thousands of people living with different symptoms and disorders that do not have names. But what's even crazier is 10-20 years ago some doctors were just "guessing" when giving a diagnosis because the science simply was not there and sometimes is still is not there to name their ailments. 

Not being a medical person myself, it has been eye opening to me how intricate the human body is and how close yet very far away doctors and scientists are to understanding it all. 

And you know what? For today I can have patience in the unknown. Peace in the fact that her doctor sees improvement. And joy in getting to have my daughter in my life. I cannot control the science but I CAN control how I let it effect me. I'll let God handle the rest. 

The Night Before

I have had plenty of "nights before". The night before the first day at a new school, the night before my 5th grade play, the night before a huge test, the night before a surgery and even the night before both my labor inductions. 

Tonight is one of those night befores. The kind where I feel sick to my stomach, overwhelmed with thoughts, scared that I will somehow miss something tomorrow. The feeling that tomorrow will be much worse or maybe just much less than I expect. 

Tomorrow we meet with Charlotte's main doctor (her rehab doctor) at children's mercy for the first time since our diagnosis. We know that this appointment will be long and full of useful and not so useful information. 

We know we will be students, learning about muscle disease. I know I will be the student that frequently butts in to ask about this or that that I've researched/googled myself. We know we will be parents, entertaining our two year old and trying to hold back all emotion until we get to the privacy of our bedroom. We know we will be cheerleaders, coaxing Charlotte to show off all her latest tricks (milestones.) We know we will be advocates fighting for the best care and for the doctors to see the potential we see in our daughter. We know we will be looked at as the parents of a puzzle these doctors really want to solve. We will try our hardest to remind them that she is more than that. We will be decision makers, CEO's of our daughter's life. We will make decisions about what medical procedures are necessary and what blood test are vital. We will be fortune tellers, trying to decide what equipment she may need for the next 4-5 years. We will be all of these things but we will mostly be Katie and Neal and Charlotte. The same three people that walked into that doctors office will walk out. Maybe armed with new information, most likely our minds will be boggled with new questions. 

But...We will walk out knowing that God can do immeasurably more than what we or the doctors can even think or imagine. So tonight on THIS night before, I will go to bed holding on the that. Tonight I will go to bed knowing that God is her warrior and I am his follower and that is enough for me. 

You too? I thought I was the only one.

I just read an article about grieving a child you haven't lost. You can find the article here:  http://themighty.com/2015/08/why-i-grieve-for-a-child-i-havent-lost/?utm_source=Facebook&utm_medium=Mighty_Page&utm_campaign=Facebook_Page

The mom that wrote the wonderful post explains her experience with her 7 year old son. I wept while I read it and although I don't share all of her experiences and my child is only 2, I related to her and I loved her honesty. 

So here is what I'm grieving. I find myself feeling like I am missing out on a typical chatty princess loving 2 year old. But who knows? Maybe she would have been shy and maybe she would have loved trucks. Maybe she does love princesses or trucks or both. But she can't tell me and that hurts.!She can't giggle about it and ask me why that princess has red hair or why that truck is bigger than our van. And it hurts. The unknown hurts. I dream frequently of her little feet running towards me and her little voice telling me she loves me. Yes, I know she may do all of these things but it won't be soon and I grieve that. I'm watching my 10 month old son become a toddler and he is wanting to get into everything. He loves Mickey Mouse Clubhouse and says about the same amount of words as Lottie but he says them more consistently.

When I first found out I was pregnant in the fall of 2012. I immediately wished for a little girl. But I often told people "it doesn't matter as long as the baby is healthy" Side note: I honestly hate that phrase now. When I was pregnant with Max I said "as long as my baby is happy." That is a lot more obtainable I have discovered. 

A couple months later when the ultrasound tech told us that it is was a girl. My heart leapt with joy! I knew I was made to be a girl mom. I couldn't wait for dresses, musicals, tea parties, dance class and a sweet little voice. She was born in July, 6 days before my birthday and she was perfect! My beautiful baby girl. 

As she has grown, we have learned more about her limitations and have heard a lot of big picture theories on who she will become. But that stuff, even the scary stuff doesn't bother me as often as the day to day things that I feel like we are missing. I have great hope that she will walk and talk and choose whether she is a tomboy or a girly girl or somewhere inbetween. But all that doesn't stop the day to day pain of looking at my two year old and longing to talk to her and listen to her attempt to speak properly and maybe even hum Frozen's "Let it Go." 

Last week I observed her in her therapeutic classroom, where all the kids have special needs but she is the only one that doesn't walk. I watched the other kids in the class crawl through a tunnel as Charlotte stood strapped in a stander just watching. I know this bothers only me and not her. She was smiling and laughing at the silly boys. But a part of me broke. She will only be small enough to crawl through that little tunnel for a little while longer and she may never be able to experience that joy or many other physical toddler experiences.

I know this post has been raw and smells a little of self pity. That is not my intention. My intention is to give you a glimpse into a special needs moms world, my world. And so other moms know it's ok to feel sad sometimes. As I'm writing this, I wonder if Lottie will read this one day. If you are reading this my sweet girl, know that I absolutely would not change the last two years. You have taught us so much about how it is ok to be different and you are magical to us. You were born with a terrible disease that I am sure you also don't appreciate . But you are amazing! Your muscles slow you down but you find a way to make things happen. You have doctors and/or therapist messing with you all week, every week and you are still one of the happiest toddlers I know! Your giggle and love for anything sweet tasting brings us so much joy. And the way you look at your brother with a look of pure pride and  excitement is the best gift to me. Yes, I'm mourning the things I wish you could do and maybe you will mourn some limitations someday too. But as long as you are happy a reasonable amount of the time, as your dad and I are, then life for this mommy is good! You are good not just good, perfect and we love you! 

Cupcakes and Step Duels

So for the last, I don't know 10 years of my life, I have thought to myself I need to move more. Well it turns out there is this cool gadget that not only is cute, comfortable and discreet, but it also counts your steps and how well you sleep. So a few weeks ago my sister in law sent me a link for the Jawbone Up on Amazon. It was super cheap and I couldn't pass it up. 

Last Sunday an Amazon package arrived on my porch. I ripped it open and was ready to take on the world with all the extra steps I was going to take. But for the next few days it turns out that I was much more interested in the amount of deep sleep I wasn't getting and barely paid attention to the pesky step counter also on the app. 

That all changed last night when my Brother in Law challenged me to a Step Duel. You see, my brother in law is very competitive and so am I and I really like to beat him in games (which doesn't happen often.) I accepted the duel knowing that the likelihood of my beating him was slim to none but I was up for a challenge. 

This morning I woke up, plugged in my UP and noticed that dear brother in law was already 1,200 steps ahead of me. I jumped out of bed and started frantically moving. I took extra steps up and down the stairs, I loaded the laundry, I walked in place and I even took the trash out. Still I was trailing significantly. So at 9am I pulled out the double stroller and took the kids for a 30 minute walk. When we returned I was so excited to plug my tracker in and see how much butt I was kicking. It said I added 386 steps... What!?! I knew something was off and googled long enough to find out that pushing a stroller throws the count off. Phew! Around lunch time I noticed I had jumped ahead of him by 1 step... Those 5 minutes were glorious until he updated and was suddenly like 500 steps ahead of me again. All day today I have been trying to move and move and I still am 1,488 steps behind. But the challenge continues tomorrow and I plan on a walk minus the stroller. 

Meanwhile, in Lottie's world, all was well because we went to Nana's house. And there is always treats at Nana's house. And this day did not disappoint. My mom and Lottie made cupcakes and I know after dinner my mom gave her one. I wasn't in the room but judging by the bath after I assume she devoured it as usual. About an hour later the adults were eating dinner and Lottie was eyeing my cupcake. So I jokingly told her if she crawled to me I would give her another cupcake. This is when something amazing happened. Charlotte started attempting to crawl towards me. She was very slow and it took her a long time to figure it out, but she army crawled a few inches at a time until she got to the cupcake. Of course after giving her a bite we would move the cupcake farther away. And each time she would shove her body forward inch by inch to where the cupcake sat. She ended up crawling forward at least two feet! It was an amazing victory for us and for her. This is the first time we have seen her crawl forward and only days after a devastating diagnosis. 

So here is what I learned today. Sometimes it just takes the right motivation to make us do the hard things. I took my kids for a walk and made sure I was moving most of the day. Thanks to a silly step duel. Lottie crawled her way across a floor for a strawberry cupcake. What's your motivation? 

Sometimes you just need to cry in your own bed!

Last night Neal got home a little later than usual so we let the kids stay up a little longer to play the classic toddler game: Rolling the Ball. The kids were laughing hard and Neal was right there having a great time. About 30 minutes after their normal bedtime, mean mommy started getting our bedtime routine going. Max was in an unusually good mood but as wiggly as ever as Neal applied his multiple creams and lotions. I was in charge of dressing Lottie, when I made a BIG rookie mistake and zipped her poor tummy into her pink piggy pajamas. 

Her face turned quickly from contentment to a look of sheer panic. My heart sunk into my stomach as I picked her up calmly telling her how sorry I was and that it was ok. Maybe calmly is the wrong word, I was frantic, she was frantic, Daddy was frantic and Max was... well curious. Charlotte hardly ever cries but when she does it is the most pitiful sound on earth, in my humble opinion.

We tried everything to soothe her. We sang all her favorite songs, tried to feed her a snack, I even let daddy hold her (assuming she was holding a deep grudge against Mommy.) We didn't like the way she was breathing so we even resorted to putting her milk in a bottle, which she hasn't used for months. Nothing was working, Elmo, Katy Perry, bouncing her on our bed, giving her a 

bath...nothing. We were nearing an hour of tears. Her tummy wasn't red or bruised so we knew it was crying for crying's sake at this point. Max was already in bed fast asleep (he hasn't formed the empathy part of his personality yet) and Neal and I were pacing with a screaming toddler.

My next move was one that I know attachment parents will cringe at, but sorry, not sorry. I told Neal that she was overly tired and needed to just lay in her bed and cry a little bit. She wasn't hurting and she could barely keep her eyes open. After much debate with my super protective husband and my own guilt, I took her and laid her in her bed. I kissed her goodnight and told her I loved her and said a quick prayer that God would comfort her to sleep. I went back to my room with Neal and we held our breaths as she cried for another 10 minutes then exhaled and fell fast asleep. 

I was playing this whole scenario over in my head on our drive to preschool this morning and  realized this was yet another lesson from Lottie. The lesson is this: When I am sad, grieving, tired, or angry sometimes I need to crawl in my bed alone and cry myself to sleep. It doesn't matter what people say, do, or even try to feed me 😉 sometimes I just have to cry. Anyone relate?

I have a confession, I have not let myself cry over Charlotte's diagnosis yet for a few reasons. One being that I want to stay strong and I don't want pity. Another reason is I have not allowed myself to just lie in bed and let it all out. It will come I am sure. And when it does I will probably want to just cry myself to sleep. And it will be ok. I will wake up the next morning feeling a bit better and maybe I will even be excited about the day like Lottie was this morning. 

An open letter to CMD

Dear Congenital Muscular Dystrophy and Congenital Fiber Type Disproportion,

Yesterday, I received a call from our daughter's doctor. He confirmed what the nurse had told me the day before. Lottie's biopsy was abnormal. Abnormal, not a word you want to hear from a doctor. Really not a word most people ever want to hear in conjunction with their health. This is where you come in, Congenital Fiber Type Disproportion. He went on to say that her muscles presented with you. This was already WAY over my head and I knew I had to get through this phone call so I could google stalk you like a crazy new girlfriend. 

I asked the doctor the most obvious question, "so what does this mean?" His answer was vague (a common trend amongst pediatric doctors) but he did say that you, CFTD, could be a diagnosis all on your own but his knowledge of our Lottie led him to believe it was your buddy Congenital Muscular Dystrophy. And that this was enough to give a clinical diagnosis. How strange this felt to finally be hearing "we think we have a diagnosis" when we have been searching for 20 long months. The doctor went on to describe that you CMD, are a complicated guy and that you have multiple personalities. And we would have to do further genetic testing to figure out which personality we are dealing with. Some more pleasant I suppose than others. 

Frankly up until a few months ago I had never heard of you. I knew your family name, Muscular Dystrophy, but had never heard the word congenital (presenting at birth.) See, my experiences with MD started young but were very limited. We knew two great teenaged brothers at my first church that were wheelchair bound and really cool guys. They had MD. They eventually died in young adulthood from MD related illness. My Dads two uncles started showing signs in late adulthood, and my only memory is of one of them navigating a chairlift that would get him to the second floor of his home. (I thought that was really cool as a kid.) They also had MD and they also died from illnesses related to it. I also have a very pleasant memory of a high schooler my dad taught that was wheelchair bound and she was nice, bubbly, positive and smart. I didn't know then but apparently she had MD.

My feelings on you are complicated and I'm not going to mince words by saying you are what I had intended to welcome into my precious daughter's life.  You see Lottie is our first born, the answer to my prayers and dreams. She is beautiful, funny, laid back, loving, silly, stubborn and hard working. And apparently she is also linked with you. A disease that could potentially weaken her muscles and keep her from running and jumping and possibly walking. But until there is a cure she is stuck with you. Luckily at her age it doesn't bother her yet. But it sure bothers her Daddy and I. 

We will accept you, because we have to and because we believe we can work around you. We know that you will not control our Lottie and you will not control us! So I'd like to make a deal with you. You give us your most pleasant personality and we will in turn give you ours. 

Regards,

         Mama Bear