Thursday, October 18, 2012

Positivity


"Correction does much, but encouragement does more. " - Johann Wolfgang von Goethe

I don't think that it's a secret to anyone that us CMT-er's have our days where we feel down and depressed.  Gosh, sometimes it may be more than one day, or a week, or more than that.  It can be normal for anybody, especially someone with a chronic illness.

The one thing that I believe is THE most important asset that we can have is a great support system.  I don't think I am alone in this belief!  I have been extremely blessed throughout my life and struggle with this disease to have an amazing support system.  Wonderful and supportive parents, siblings, spouse, in-laws, extended family, friends, and even my own children.  All amazingly wonderful people who have always been there for me.  They have adjusted how things are done around me, and make minor changes and accommodations without question or hesitation.  And, most importantly, they have always been there to lift me up when I'm feeling down.

I remember the day I found out that my then 6-week old daughter also had CMT.  Even though I had suspected it even before she was born, I broke down in inconsolable tears.  My husband was right by my side, and my parents both rushed to be there to calm me and tell me that things would be okay.  When my husband hasn't been able to attend important appointments with my, another family member has always stepped in to be with me.  When I was 14 years old, and about to go in for a rather big surgery, 6 or so of my best friends gathered together one weekend in support of me.  When I'm having a physically rough day, one of my best friends, who coincidentally lives right next door, is always there to step in and give me a hand.

Support systems like this one are vital, and for me, essential to getting through my day-to-day life dealing with CMT.  But one part of that support system has not been mentioned....supportive and understanding doctors.  I've heard stories and had experiences on both sides of the coin.  Amazing and positive doctors, and some not so much.  So what do you do when a physician can't offer you the emotional support and positivity that you need?

I had one such physician, we'll call him Dr. R, who I had seen since I was about 14 years old.  I always really liked Dr. R.....he was funny, blunt, and reminded me of Danny Devito a little bit.  When I was 16 and had my learner's permit, I accidentally ran my mom's car into the cinder block wall in his parking lot.....and he teased me about it for years.  He always joked around with me before surgeries, always asked about my kids, and knows very well how much I despise getting stitches removed.  I trusted his opinion when I trusted nobody else's, even my own.

Earlier this year, I went and visited Dr. R for a problem with a callous on my foot.  We were chit-chatting as we usually do, and I began expressing my excitement about starting my support group here in Utah.  He inquired a little more about it, and I began sharing with him all of the research that is being done, and how a cure is believed to only be a few years out.  This is something that I'm very excited and passionate about, and I had assumed he would be, as well.  His response?

"Well, good luck with that.  I wouldn't count on a cure happening during your lifetime."

Wait, what?!  I could not believe what I was hearing.  I'm not sure if he saw the incredulous look I was giving him or not, and I really didn't know what to say.  How could this doctor that I'd put my emotional and physical trust in for 16 years have zero hope?  I left his office that day feeling very defeated.  I spent a lot of time thinking about that experience, and came to the conclusion that I would not be going back to see Dr. R.  I don't think I could trust someone again who has such a negative attitude toward this disease that I struggle with every day.

I've heard similar stories from other CMT-ers, and those stories always make me so sad.  We trust our physicians to have the answers and solutions for our physical health, but we also trust them with our emotional health.  For instance, my daughter's orthopedic doctor is one of the funniest, most positive people I have ever met.  My daughter actually gets excited to go see him, because he is so focused on making the visit a positive experience for her.  Having great physicians in your support system, I believe, can make or break your own attitude about dealing with this roller coaster ride that is CMT.

Monday, September 17, 2012

To Test, Or Not To Test?


I'm sure there are many opinions, all with very valid points, on whether or not to test children for CMT if one parent has it, and just as many opinions on how to go about testing them.  As parents, I believe that we all have the right to our own decisions, especially ones concerning our children and their health. I'd like to share my experiences of testing my children for CMT, and maybe some tips should anybody else feel like going about it the way that I did.

From the time I learned that each of my children had a 50% chance of having CMT, I knew that I wanted to be proactive in testing them for it.  I myself was adopted, and in the very limited medical history I have of my biological parents, CMT is not mentioned at all.  So, all I can do is just assume that mine is the result of a random genetic mutation.  My parents were amazing, and did everything they could to help me with my CMT.  I was tested for CMT through a nerve biopsy when I was 4 years old, but the results came back negative.  I was not officially diagnosed by a blood test when I was 12 years old.  That was 8 years of wondering for my parents.  Wondering what could be causing all of these problems with their daughter.

I knew that I could not deal with the uncertainty with my own children.  I am the type of person whose mind tends to immediately race to the worst case scenario in a lot of situations, and I wanted to try and avoid being the ultra-paranoid parent.

When I was pregnant with my first child in 2003, I learned that a blood test could be performed simply by taking some of the umbilical cord blood immediately after the baby was born.  That sounded simple enough, so that's what we did. 3 months later, we found out that the blood sample had never made it to the testing center for some reason.  I was furious!  I had been so emotionally obsessed with finding out, and then to have that let down of not having an answer, just about killed me.  I waited almost another 6 months before making an appointment to have my son's blood drawn again.  I very clearly remember the phone call from the pediatrician's office, telling me that the results had come back negative.  I had to pull my car over because I was crying so hard I couldn't see the road!  I am very thankful I had him tested at a young age.  He was a late walker, and also went through a period of toe-walking when he was about 3 years old. (He wanted to walk like a T-Rex! LOL) I know that I would have had those moments of panic had I not known for certain that he did not have it.

When I became pregnant again in  2007, my husband and I were convinced early on about two things....that this baby would be a girl, and that she would have CMT.  It was just a very distinct gut feeling.  Turns out, our gut feeling was right.  We had the cord blood tested again, and found out when she was just 6 weeks old that Addison did have CMT.  I was determined to be proactive about her treatment, and got her accepted into Shriner's Hospital for Children right after her first birthday.  It is so nice to be able to go see her physician every six months, and get an update on her progress and answers to my questions.  I feel like the path we are on with her is the right one, and I have so much hope for her future.

There was one glitch, though.  When the cord blood sample was taken, it was all labeled wrong.  Wrong date, wrong name, wrong ordering physician.  Blood testing is amazingly expensive, and when I got the bill in the mail, I about croaked.  I spent about 4 months attempting to straighten the mess out, going so far as needing to talk to the hospital administrator about the mistake.  Thankfully, it all got straightened out, and we didn't have to pay a penny.  Here's a tip: double and triple check that the information on the blood sample is correct!

Since we had had my two previous children tested immediately, my husband and I knew that we would do the same thing with our third.  I ended up being put under for a c-section for this birth, and so I made sure that my husband remembered to check the blood sample so that we didn't have the same problem as last time.  Everything got labeled correctly, sent off to the right place, and six weeks later we had the diagnosis that our sweet baby girl did not have CMT!

We thought we were out of the woods with that one....but we were wrong!  We had been under the impression that our insurance would cover at least 80% of the testing charges.  So when we got the bill for 17K (remember, I said testing was expensive?), I immediately got on the phone with our insurance carrier.  Turns out, genetic testing wasn't covered AT ALL.  As we looked further into the problem, we found out that the OBGYN who submitted our blood sample and paperwork didn't include any reasoning for the testing.  No family history, nothing.  So as far as the insurance knew, we were just a couple of really paranoid parents who picked some random disease to test our baby for. LOL.  We are, unfortunately, still fighting that battle over a year later, and it's exhausting and frustrating.  Here's my second tip: Double and triple check that this testing, or a portion of it, will be covered by insurance!


I keep asking myself if the peace of mind and the peace I feel with having the answers I want are worth all this time and money and frustration.  Most days, my answer is yes.  But I suppose that IS the question that every parent has to ask.  At the end of the day, it's not something that early diagnosis will change.  This is the road that I chose to go down with my children, and at the end of the day, I feel confident in my decision.  It may not be the decision or path for everyone, and that's completely okay.  I just hope that sharing my story and insights into this process may help somebody else make a decision one way or another.

Thursday, September 13, 2012

My CMT Tricks


When I read Nic's post about her tricks for dealing with her CMT, I was amazed.  Amazed at how similar some of our tricks are, and yet how differently everyone copes.  My symptoms have also been present since childhood, but most of my weakness is in my feet & legs, and not in my hands.  Most days, I don't really pay too much attention to these tricks, as they have just become a normal part of my daily life, so this post really forced me to pay attention to things that I do differently each day to cope.

WALKING


Every single morning, the very first thing I do before getting out of bed is put my AFO on. I have worn an AFO on my left foot since I was 15....it almost just seems like another appendage by now!  As far as shoes go, I have to make sure that I am buying shoes that have a very low sole, and are preferably very very flat.  Since I don't have an AFO on my right foot, but still have ankle weakness, I have to make sure the shoes are supportive enough for my right foot as well.  No sandals, heels, or flip flops for me!  When dealing with stairs, there always, ALWAYS needs to be a handrail for me to even attempt tackling a flight.  Handrails on both sides are even better!  I am always on the lookout for something to hold onto or lean up against if I have to stand in one place for a bit.

GETTING READY

I don't have a lot of tricks that I use when getting ready each day.  I would say that the thing that makes the biggest difference for me is my bathroom stool.  I use it when I take a shower, since I need my AFO to stand/walk, and I don't want to ruin it in the shower.  I also use it when sitting in front of the mirror to do my hair or makeup.  Since it is very portable, it occasionally even accompanies me into the kitchen.

RUNNING ERRANDS



No doubt the biggest help for me when I run errands is my handicap license plate.  Especially during our Utah winters with the snow, ice, and slush.  Whenever possible, I try to shop at stores that provide motorized carts so I don't wear myself out buying groceries.  If a store I need to go to does not have motorized carts, or shopping carts so I can at least have something to hold onto, my trick becomes taking my baby with me in her stroller so that I can hold onto that.

DAILY LIFE


By far though, my biggest asset and "trick" is my supportive and helpful family and friends. My sons will carry the laundry up and down the stairs for me so that I don't have to.  My sweet husband does a large amount of the cooking and housework so that I am not in a lot of pain at the end of the day.  He never hesitates to give me a back rub, unload groceries from the car, or carry the baby so that I don't have to.  Even my friends and extended family are amazing, and are always picking up some kind of slack for me physically.  They all do it without being asked, and they are my unsung heroes every day!

Tuesday, September 11, 2012

Pity, Party of 1

I've been struggling for a few days to write this post.  And I've been feeling frustrated for a few days.  Coincidence?  Definitely not.  I really try to do my best while blogging to give a real, true-to-life accounting of how it is to live with CMT, but to do it without complaining too much.  I'm having a hard time with that right now.

To be honest, there are days when I don't give a lot of thought to having CMT.  I've been dealing with it for so long, and for the most part have learned how to navigate life (that's another post...coming soon!) without too much thought.  I go about my days, taking care of my family, trying to keep up with housework, and try my best to go to bed each night feeling good about what I accomplished that day.

But then there are those days.  The dark, hard, emotional, painful days.  And they usually start out like any normal day.  Then something happens, usually a small something, and then the domino effect starts.  Suddenly everything becomes more difficult, more emotional, and more painful.  I become filled with feelings of bitterness, self-doubt, and frustration.  It's hard to function and carry out all of my daily responsibilities while feeling weighed down by all of that negativity.

It's easy to sink down into that deep pit of unhappiness, and sometimes it's even easy to stay there and wallow for a while.  I've had some frustrating things happening the past few days, that have me right on the verge of knocking that row of dominoes over.  And they've been things that I'm sure every CMT-er goes through....insurance frustrations, treatment questions, constant pain, and even more seemingly frivolous things like not being able to find some fashionable shoes.

Lucky for me, I have a great support system.  My husband has been right at my side with encouraging and supportive words.  My kids have been ready and waiting with helpful hearts and snuggles.  And one of my besties and my sister have been willing to get me out of the house to get my mind off things.  I am so grateful for these people, who probably don't realize how often they save me!

I do my best not to let my CMT define me.  Some days it's easier than others.  This world is filled with so many ups and downs, and it's completely unpredictable.  I believe that it's okay to feel down and out at times, because everyone does, and because that's the reality of this disease....it's hard.  And that's okay.  I just have to keep reminding myself that I am strong, and that with the help of those around me, I can be stronger than this disease.

Sunday, September 9, 2012

Presidential Proclamation


As some of you may know, I volunteer as a support group facilitator for the Charcot-Marie-Tooth Association.  I just got off of my monthly conference call, and WOW....there is so much that is going on!  You should take a minute and check out their awareness month site.  Go on.  Do it.  You know you want to!

One of the coolest things that is in progress (in my opinion, anyway) had been an initiative to get President Obama to nationally declare September to be CMT Awareness Month....forever!  This plan has been in the works for quite a few months, and many members of the CMTA have been making phone calls and sending letters to their state representatives asking them to sign this initiative.  And now...the initiative has been sent to the White House!!

Now, here comes the really fun/cool part.  The CMTA is asking each of us to call the White House.  Yes, you read that right.  Pick up your phone and call the White House.  Call  202-456-1111, which is the official White House Comment Line. Leave a message asking that the President support the "Dear Colleague Letter" and officially proclaim September as CMT Awareness Month.  The phone is pretty busy, so just hang in there, you will get to a real person. I've done it, and you can, too!  I had to spell Charcot-Marie-Tooth and explain what it was, so I spread awareness just by making the call! Remember this is a non-partisan request.  There is no funding required, no legislation attached. 

Please, please, please take 5 minutes and make this call, and then invite everyone you know to do the same.  It is such a simple (and honestly, really cool) thing that we can all do that would make such a huge difference in spreading awareness about this disease!

Wednesday, September 5, 2012

New Beginnings


Today was Addison's first day of preschool!  This girl was up and ready to go by 7:30 this morning, even though school didn't start until 12:30.  She was that excited!

There's always that tiny bit of nervousness that I get whenever Addison starts something new.  I realize that every parent must go through this and have the same worries, but I always have that additional worry.  Will her CMT hold her back?  Will it keep her from making friends easily?

Addison went to a half year of preschool last year two days a week.  This year it's a full year, and 3 days a week.  Last year, her best friend was in her class with her.  This year she's on her own.  I was nervous about how things would go when I dropped her off, but she couldn't have been more excited.  She's all ready to learn and make new friends, and I have to just keep believing that she will be nothing more than excellent!

Tuesday, September 4, 2012

Hip Woes

Just a few short months after turning 18 and graduating high school, I had a triple osteotomy performed on my left hip to help correct some of the hip dysplasia I was experiencing.  The surgeon cut the top of my femur off, rotated the ball joint, and then plated and screwed it back together.  He did the same thing with part of my pelvic bone, rotating the joint socket to help it cover the ball.  I'd had surgeries before to help lengthen tendons in my feet and remove bone spurs, but nothing like this.  I spent 5 days in the hospital, and another 6 weeks not putting any pressure on my leg.  I needed help standing, going to the bathroom, and even moving my leg forward to walk.

I recovered from that surgery well, and was back to normal function (for me, anyway) within about 6 months.  I had two lovely battle wounds (aka, scars) to show for my suffering, one of which was 12 inches long down the side of my thigh.  The doctor, my parents, and myself were quite happy with the outcome, but I distinctly remember one specific thing that the doctor told me.  

"You should try to be done having your kids by the time you're 30, because you'll likely be looking at a hip replacement by then."

I was a bit concerned about that statement at the time.  I was only 18 years old, and nowhere near getting married or having children.  12 years to do all that seemed like not much time!  Luckily for me, in this case, I had my first child at age 21, and had my last at age 28.  I was done....I had made the deadline!

My hip hasn't given me too much grief, except when I tend to wear myself out or push myself too hard, but that's expected.  That is, until about 2 months ago....2 months shy of my 30th birthday.

As I sat in the Hip Specialist's office this morning, I started feeling a lot of anxiety.  I had gotten my x-rays, and the tech had commented, "Wow, that is one bad hip!  And it looks like it's been bothering you for a long time!"  Yeah....not reassuring.  As I waited for the doctor, I began perusing a pamphlet about total hip replacements.  BAD IDEA!  I could feel both the anxiety and tears welling up, and I tried really hard to shoo them away before the doc came in.  I was really starting to despise all this CMT stuff...

Luckily, things were not at all as bad as I was fearing.  The hip dysplasia is still there, and still fairly bad, and I have bone spurs on the top and bottom of the ball part of the joint.  However, I still have a good amount of "joint space" and a decent amount of cartilage!  That means no surgery for me!  At least not yet.  I will eventually be looking at a total hip replacement, but as the doc said, the longer I can put it off, the better off I will be in the long run.

So for the time being?  Physical therapy and lots of anti-inflammatories.  Oh, and a prescription for custom shoes.  We found out today that there is about a 1-inch difference in length between my left leg and my right.  My AFO makes up for some of it, but if we build up the AFO any further, I won't be able to fit it into any shoes.  So, custom shoes it is!  Hopefully this plan will help eliminate a lot of the pain I've been experiencing, and if not, it will be back to the drawing board!

Saturday, September 1, 2012

Awareness Month 2012

Well, here we are again at the beginning of CMT Awareness month!  It's such an exciting month for everyone involved, and such a great reminder of the opportunity we all have to raise awareness and make a difference in the live of those with CMT.  There are some fun and exciting things going on this month.  For instance, Lenka and myself will be blogging every day on our blogs again this year.  And then there's the project that I'm most excited about...myself and 4 other amazing ladies who have CMT (Lenka, Michele, Nicole, and Esther) are all collaborating on a blog about our experiences with CMT!  You should check it out at http://cmtclicks.blogspot.com/ .

Ok, that's all for now....I've got a birthday date to get to!  Check back tomorrow for another post!  Happy Awareness Month!

Tuesday, June 12, 2012

Call to Action!

Okay, I need everyone's help, and it will only take 5 minutes of your time. The CMT Association is making a push in Congress to have CMT Awareness Month this September recognized nationally. This would be a huge step in raising awareness for this disease! Please click on this link and follow the easy steps to email your representative about signing the letter. Thank you SO much for all your help!


Wednesday, May 23, 2012

Go Bernadette!

http://abclocal.go.com/wpvi/story?section=news/health&id=8674227


This is the latest news story about Bernadette Scarduzio, an amazing woman who also has CMT, like me.  4 years ago, she opened her life up to a film-maker and spent the next 3 years having her life filmed for a documentary about CMT.  The film is finally finished (yay!!) and is about to be submitted to film festivals all across the country.  I secretly really hope that it comes to Sundance....it would be such an awesome opportunity to see the film and to meet Bernadette here in my home state!


Here are some other links so you can read more about this amazing film:


http://bernslife.com/BERNSLIFE/Trailer_Donate.html

http://www.youtube.com/watch?v=TCRbIaOGTAw


Monday, May 21, 2012

Busy Weekend

Woohoo!  Look at me....two posts in less than a week!  We'll see if I can keep up with this trend.


We had an insanely busy weekend, and I still feel like I'm recovering from all of it.  Saturday afternoon was the first meeting of the support & action group that I facilitate through the CMTA.  I was SOOOOO nervous!!  I feel like I'm always silencing the 16-year old voice in my head that says, "You're just a young girl....what authority do you have to do this?"  And then I have to give myself a little pep talk and convince myself that I'm not the awkward, shy teenager anymore, and that I am in fact an adult (almost 30....yikes!) and that people will take me seriously.


Anyway, my sweet husband and I spent Friday night and all morning Saturday getting ready for this meeting.  If you're having a gathering of people, you need to feed them, right?  That's my mantra, anyway. So I decided to make some Starbucks-esque lemon pound cakes, barbecue meatballs, and a chicken pasta salad.  (Allow me to add the side note that I do not enjoy cooking.  I CAN cook, and I do it well.  But I pay the price later for the time spent on my feet doing it.)  The food all came together well, and all of the information got put together in time.  While I was waiting for people to show up, I kept having all these visions of nobody showing up, and me sitting there alone in a big ol' conference room eating salad and pound cake by myself.  Thankfully, that's not what happened!  There ended up being 6 of us there....a small group, but a good group.  We did introductions, and then actually spent most of the time talking, sharing our stories and experiences, and asking each other questions.  I'm not sure how everyone else felt, but it was honestly one of the coolest experiences I have ever had!  I've only ever had the opportunity to meet one other person face-to-face with CMT, so it was a bit surreal to be sitting in a room with other people who totally understand the things I go through.  I didn't get to much of what was on the agenda, and I totally don't even care.  We did talk a bit about the fundraiser that we're planning for September, so we can get the ball rolling for that.  I am beyond excited to get to know all of these people better, and can't wait for our next meeting!!


Sunday was another long day.  First off, at 9 am, my husband and I each had to give a 15-minute talk at our church meeting.  It went well and I was happy to do it, but that meant getting up earlier than my tired body wanted to so I could get everyone out the door in time. (We barely made it!)  After that, we got the family all loaded up to head down to Southern Utah to check out the annular solar eclipse.  By the time we picked my son up from his dad, swung by to grab everyone else, and got to where we were going, we had been in the car for roughly 5 hours.  Now, I've been on a lot of long drives in my life, and aside from a little muscle stiffness, I've never really had a problem.  But yesterday, I started having a new problem that I'd never really experienced before.  I had been so busy making sure my baby was happy, that I hadn't noticed my left leg (the one I wear my AFO on) slowly swelling.  It was fairly swollen and sore when we finally got out of the car, but a bit of walking around at the park seemed to help.  The city we were in was supposedly THE spot to see the eclipse, so there were quite a few people there.  We were set up in a park, so the kids had a chance to get some energy out and go play on the playground for a couple hours, and I had a chance to just lounge around with my baby.




I was feeling tired, but pretty good when we started out on what ended up being a 5-hour drive home (normally, without all the traffic, it would have taken just over 3 hours).  By the time we arrived home at 1:15 am, I was in a lot of pain.  My back was screaming, every single joint in my body felt locked up, it felt like I had charlie horses throughout my legs, and my left leg was more swollen than I had seen it in a very long time.  We got the kids into bed, and then I sat down on the edge of my bed to take my AFO off.  I seriously had to pry the thing off my leg.  The indentations on my leg from my AFO and my sock were bright red, and hurt to touch them.  My husband collapsed on the bed next to me and was immediately asleep....I thought I'd fall right to sleep as well, but that wasn't the case. I was so uncomfortable and in so much pain that I tossed, turned, and cried for about an hour before pure exhaustion took over.

Unfortunately, Monday morning came all too soon.  I feel like I've been run over by a truck.  Luckily the swelling is completely gone, that's one good thing.  If I'd had my choice, I would have instigated a "pajamas and movies" day.  Instead, I had to get all of us presentable and to my son's school to watch his end-of-year program.  He did such a great job, and I was so happy to be able to be there.  Seeing the joy on my kids' faces when we go do fun things together or when I attend one of their school functions or extra-curricular practices helps make the inevitable physical sacrifice so much more worth it!  I'm starting to feel a little bit better tonight, so hopefully tomorrow I'll be back to my "normal".

Friday, May 18, 2012

Clearing Out The Cobwebs

I know, I know.....I'm a slacker.  It feels like I've been slacking in a lot of things lately.  Why?  I'm not really sure.  Chalk it up to exhaustion.....mentally and physically.   But no more!  I got lucky enough today to be a part of a fun discussion with other women who also blog about CMT.  It was so refreshing!!  I love being able to connect with other women who are going through a lot of the same things I am!  I read some new blog posts, and have resigned myself to sit here and blog until all the cobwebs have been dusted away.  It's time for an update!


Ok, we'll start with Addison.  Addison turned 4 in March, and thankfully I think she's leaving parts of the "terrible 2's and 3's" behind finally.  We just had her visit with the doctor up at Shriner's a few weeks ago.  I always get so nervous before these visits every 6 months, but I have to bottle it all up and convince Addison that this will be a fun appointment.  Have I mentioned how much I love Shriner's Hospital?  They are amazing!!  So, at the beginning of every appointment, they take Addison back for x-rays.  They put her in these hideous (but comfy) shorts, and walk her to the x-ray room.  A couple visits ago, she walked in there and got totally freaked out by the life-size skeleton they keep in there.  So now, before she will even step foot in there, she makes the nurse take the skeleton out.  I laugh and roll my eyes at her dramatics.  So this time, they actually make her stand on a stool instead of lay on the table, and for some reason she got really anxious about that.  The nurse taking the x-ray was trying to distract her, and they started talking about the purple nail polish on Addison's toes. The nurse told her that she also had polish on her toes, and that it was blue.  So of course, Addison asks to see it.  I opened my mouth to tell the nurse not to worry about it....but before I could get a single sound out, that nurse was pulling her shoe and sock off and showing Addison her bright purple toes.  That distracted Addison enough that they got the x-ray, got her a princess sticker, and sent us back to the waiting room.  After they got her weight and height, Addison bribed another nurse into giving her a purple sucker (always purple with this one).  She walked back in the room with five!  Spoiled child, I tell you.  Her appointment with the doc went really well!  Her hips are developing normally, despite the slight dysplasia, and her spine is straight. She will eventually need her achilles tendons lengthened, but we're still looking at a couple years down the road before that's a necessity.  Yay!  As we were leaving, the same nurse who helped Addison horde the suckers let her pick out a special prize (she chose a pink hat), and also let her pick something out for her little sister (a bobble-head Mickey).  As we were getting in the car, she said to me, "Mom, I like going to this doctor!  It's so much fun!"  That makes me happy to hear. :)


As for me, the past few months have definitely had their ups and downs.  After having my bone spur removed last fall, things seemed really great.  I was able to get through all the holidays 95% pain-free, and I kept hoping things would stay that way.  Boy, was I wrong!  I should be used to this roller coaster of pain that comes with CMT, but I always find myself hoping that the highs will stay longer than they ever do.  Around the end of January, my left foot started aching every now and then.  I thought it was just the cold weather, but it kept getting worse.  Strangely, it wasn't so bad when it was in my brace, but once the brace came off I wanted to cry because it hurt so badly.  Roughly around the same time, the outside edge of the bottom of my right foot began to get really sore.  I've always had a small callous there due to the position of my foot, but it had never really bothered me until then.  Now, I'm used to one foot really hurting for one reason or another, but still being able to kind of rely on the foot that wasn't hurting.  Having both of them in pretty much constant pain made me beyond miserable.  I made an emergency appointment with my orthopedic surgeon.  The callous on my right foot had ulcerated, and he had to clean the infection out. (Ouch!!)  Nothing showed up on the x-ray for my left foot, but the surgeon said he was afraid the pain may be the start of a stress fracture.  Just the news I wanted to hear!  4 weeks later, my right foot was looking better, but not really feeling better, and my left foot still hurt.  More x-rays and another exam of the left foot still showed nothing.  This was the middle of March.  By the middle of April, my right foot was back to normal, with a nice little callous in the same spot where the previous one was.  My left foot was feeling a bit better, but still really hurting every now and then.  I decided to chalk up the pain in my left foot to the pieces of screws that are still stuck in my bones.  It's the only explanation I can come up with without getting a bone scan and MRI.  And unfortunately, there's no way to get those pieces of screws out of the bones.  I guess you could say I'm screwed.....literally.


This last roller coaster of pain has left me beyond exhausted.  I can usually muster up some bursts of motivation and energy to get some stuff done, or to go do something fun with my husband or kids.  Not this time.  I've been in an energy slump for weeks now.  I even took a girl's weekend with one of my best friends, hoping that a weekend of fun relaxation could re-invigorate me.  Nope.  I can sleep for 8 hours, and still wake up feeling exhausted.  I hate it.  Especially as summer is approaching, and I have all of these fun ideas of things to do with my kids running through my head.  I want to have a summer full of memories, not a summer of me just telling my kids to go play outside or find something else to do because I'm too exhausted to do anything else.  I went and saw a new doctor a couple weeks ago, who ran some blood work to test my hormones.  Apparently, after having 3 kids, they're all out of whack. (Yeah, I know, just the kind of thing you wanted to read about.)  So I'm on a new medicine regimin, which the doctor says should help improve my energy in the next month or so.  I'm definitely crossing my fingers on this one!  Oh, and I also went and got the padding on the bottom of my brace built back up......that 1/4 inch change makes a huge difference when it comes to my hip!


And as for the last bit of news....tomorrow is the first meeting of the CMTA Orem Utah Support & Action Group!  Aaaahhh!!!  I've got so much running through my head about this, and about trying to get a fundraiser set up for awareness month this September.  I'd better run get everything finished for tomorrow, but I'll post again after the meeting.  Wish me luck!

Friday, February 3, 2012

Hard

The past few days have seemed unusually hard for me.  My heart hurts.  Not for anything that has to do with me, for once.  It has to do with Addison.  Let me explain.


Tuesday was my day for preschool carpool.  I picked all 3 girls up after school that afternoon, and Addison's two friends started running down the sidewalk toward the car.  Following suit, Addison started running as well.  Due to her lack of physical coordination, she was quite a ways behind them.  She has never said anything before, or ever even seemed to notice much.  But this time, she called after the other two, "Guys!  Wait for me!  I can't run as fast as you! Slow down!"  I stopped dead in my tracks behind Addison and had to fight back the tears.


The next day was dance class. (I'm feeling like the proverbial "soccer mom" here. LOL.) This is probably Addison's favorite activity of the week.  She is completely enamored by her dance teacher, and loves putting on her tutu.  They started out with warm-ups....stretching, jumping, spinning and running.  Addison did fairly well at all of those activities, and was totally keeping up with the rest of her class.  Then came the skipping.  She was trying her very best, and another one of the girls stopped and innocently told her, "That's not how you skip.  You don't know how to do it right."  Addison turned and looked at me with an "I don't understand" kind of look, and just went right back to class.


Incidents like that make my heart hurt.  A lot.  I know how to deal with and have come to accept that there are certain (many, actually) things that I can't physically do.  Ninety-nine percent on the time I'm okay with that.  But it wasn't an easy road getting to this point.  I had a hard time admitting as a teenager that I was different.  That I wasn't physically up to par with my peers.  It was hard.  I was blessed with a great family and amazing friends who accepted my limitations and never made me feel like less of a person because of my CMT.


But I can't help but worry for Addison.  Even though all of the comments made to her recently were nothing but innocent, I worry that someday some comments made to her won't be so innocent.  That she won't have friends who accept her for who she is.  That she will be made to feel different.  I know that I shouldn't be focusing on her limitations, and that I should be grateful for all of the things that she is.  She is beautiful, spunky, smart, sweet, funny, talented, and an all-around great kid.  I am so grateful that she is my daughter, and I guess that "Mama Bear" instinct is just kicking into overdrive lately.

Monday, January 30, 2012

Rare Disease Blog Hop

I can't tell you how many times the following conversation has occured:


Random person: "What's wrong with your leg?  Did you get hurt?"
Me: "No, I actually have a neuromuscular disease that affects my legs and feet."
Random person: "Oh, wow.  What's it called?"
Me: "It's called CMT...."
Random person: (Interrupting) "Country music television?!"
Me: "No....CMT is short for Charcot-Marie-Tooth Disease."
Random person: "Huh....I've never heard of that.  Does it affect your teeth, too?"


In my 29 years, I've gotten very used to most people not having any idea what my disease is.  I've even gotten used to having to explain to some doctors what my disease is.  I've gotten used to the stares, the weird looks, the people who avoid eye contact, and the awkward questions.  Unfortunately, a lot of those things just come with having a rare disease.


Did you know that an estimated 350 million people are affected by rare disease worldwide?  That's 1 in 10 Americans....30 million Americans.  30 million Americans is more than the total number of people living with cancer worldwide.  There are more than 7,000 rare diseases with some affecting less than 100 people.  These rare conditions are chronic, life threatening, and fatal.  There are NO cures for any rare disease, and only 5% of the diseases have any type of treatment.


30 days from today (February 29th) is World Rare Disease Day.  Why is the number 30 significant? 30% of children with a rare disease will die by their 5th birthday.


Help us spread awareness about rare diseases worldwide!  Today is  the RARE Blog Hop Day. I invite all of you reading this to visit the blogs listed below, and also visit www.GlobalGenes.org and www.RareProject.org/blog to learn more and find out how to participate!

Tuesday, January 24, 2012

Winter Blues

No, I don't have the "winter blues", despite what my long-term silence on this blog might indicate.  (I'll remedy that, I promise!)  My winter blues stem from a totally different source, one that usually is not psychological.


Now, I hate the cold.  I hate the snow.  I hate the ice and the slush and the gray, cloudy skies.  I hate winter.  My hatred of winter has seemed to grow worse as I've gotten older.  I hate driving in the snow.  I hate hauling my kids out to run errands in the cold. I hate being petrified of slipping on ice or slush.


I hate many things about winter, but the thing that I hate most is the pain.  Every year here in Utah, we get that one really cold, wet storm.  The one that suddenly moves in after a dry, relatively warm spell.  Well, actually, we end up getting quite a few of them during the winter months, but it's the first one that's the worse.  My bones start to ache. I become acutely aware of every single joint in my entire body....it feels like every little bit of cartilage has completely disappeared.  I begin to feel like an 80-year old arthritic patient.  It's like the body aches that usually accompany the flu, but about a hundred times worse.


I don't mean to sit and have a pity party for myself.  (I already did that the other day. LOL.)  Once it stays cold for a few days, my body normalizes and everything is back to "normal" again.  But until then, I will keep taking my over-the-counter painkillers that don't seem to work much, and use my best puppy-dog eyes to solicit extra back rubs from my husband. :)