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.


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 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.


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.


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.


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 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'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 .

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