Everyday life

Well here I am realizing how long its been since my last post. My wife gave me the idea of sharing everyday life with all of you. She was sharing things with me that I have grown to know as normal but people (her included) take for granted.

Winter blues! They are real in anyone but its a big yearly struggle for me. I struggle with cold temperatures to the point I can be outside for a few minutes and then my hands, lower legs, and feet turn ice cold. And when i say ice cold I seriously mean take a steak out of the freezer and put it up against your side on bare skin cold. Cold feet wars in bed are rarely even lost by me. With cold extremities also means motor function shuts down big time. So much so that a can’t button my own pants after using the restroom or even grip that mug of warm hot chocolate. So most winter I sit in a mildly depressive state.

One of the major things that she was very surprised by is that I fall. Yes I said it I FALL. Not just once in awhile but often. Because of CMT the muscles waste away and no not at the same speeds. My muscles surrounding my knees are where I personally see this the most. For many years my Patella got weaker and weaker, but my Quads remained strong. First thought is great news my quads didnt deteriorate. But normal life with this was far from a dream. The imbalance of muscle strength caused me to have what I call “Floating Kneecaps.”  With floating kneecaps my kneecaps sat about 1-2 inches higher than normal. Normally your kneecap sits in a U shaped socket and that gives it stability. So without that stability occurring my kneecap dislocated. Easily and often.   One story I share that really gives a good look into the reality of it is….  Back during the winter of 2007 I was still pushing so much trying to hold down a job and I was employed by a local Car dealership as a Automotive Detailer. I loved this job so much, the people, the environment, the experience. But during this winter it was one of the hardest of my life. In the span of 3 months December through February I ended up missing 42 days of work. Yes 42! And by some miracle they kept me on staff. I didn’t miss a single day because of being sick, every last one of them was because I simply fell and dislocated and sprained one knee or the other. And a handful of them I was walking to or from my car at work or on the way to work. Each time i ended up army crawling back to my car and then slowly take back roads home because i had to use my arms to lift my legs up moving them from the gas pedal to the brake. (yeah not the safest but sometimes you got to do what you got to do.)  Since then I’ve have several acl & mcl & cartilage tears. I have also under gone 5 surgeries, 3 on my left & 2 on my right. The big downside is its a ticking time bomb until i need another surgery on them to repair tendons and tears that will continually occur.

A more noticeable issue I struggle with is my hand function. I don’t have the ability to pinch. I cant touch my finger tips together with my thumb so picking up a penny from the floor most times isnt worth the embarrassment of using both of my pointer fingers to pick it up. Picking up a glass of water is difficult because I need to position my hand in a perfect position to wrap my fingers around it. And even then the strength in my hands is compromised to the point that dropped glasses have become a part of life. And the realization that my for month old son has more strength in his one hand than I have in my thumb. Holding a bottle during feedings has become a battle with his ever moving hands. 

To be continued…..

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Light at the end of the tunnel

First off I wanna apologize for the lengthy pause of posts. These past 4 weeks have been some of my darkest days dealing with my disease. As most of you know I had a series of mishaps, I ended up breaking both of my ankle braces in a matter of 3 days. When the first one broke i was able to get in the next day and get it covered by its one year warranty. At that time I sent the broken brace in and had no choice to go without a much needed brace on my left foot while i waited for my new brace to be made and shipped from Sweden. Two days later while trying to keep up with as normal of activities as possible my right ankle brace split. It still had some strength to it but I had no choice but to stop wearing that brace as well due to the high risk of getting a carbon fiber sliver in the shin. If you have ever gotten a wood sliver …. well lets just say its only a fraction of the pain and discomfort as a carbon fiber sliver. (much smaller and breaks off easier. which makes it next to impossible to remove it all on your own) When I called my Ankle brace provider to inform them that now this one broke they had me come in yet again. Upon arriving for this appointment I was informed that the warranty had expired and we needed to go through the process of having my doctor sending a prescription and then casting and ordering new ones. In the mean time they were able to do a temporary fix to get me by.

Then came a decision that didn’t come easy for me. The braces I wear are Allard Custom Blue Rockers. I have been wearing this style for the past 8 years or so. It wasn’t until I started wearing these that I got the confidence to wear shorts in public. And finally felt like I walked normal enough that people wouldn’t notice my strange walk. It got even more reassuring when I’d tell people about my disability and they responded with saying they never realized anything was wrong with me. A true testament to these braces and to my internal strength of keeping it together. A brace I would rather not give up. The downside though is they are made in Sweden, Yes Sweden! With them needing to be shipped over seas it takes a lot longer to get the new braces in. With needing insurance approval and then shipping it can and usually takes 3 months from casting to receiving the new braces.

Which brings me to Insurance. A great blessing to have it cover most of the cost, but I’d love to sit down and chat with them about their policies regarding AFO’s (Ankle Foot Orthodics) Afo’s are covered ONCE every 5 years. That’s not to crazy but here is where it gets interesting… I have been in AFO’s for 18 years of my life now and the longest I have ever been able to get a pair of AFO’s to last me is 18 months before they break. Sometimes I’m able to get them replaced under warranty which is usually 6-12 months at best and other times I have to fight for new ones and have multiple doctors prove medical necessity and then wait months. So why dont I just wear an old pair or get a second pair? That would be ideal but insurrance only covers 1. And by the time I get the new ones my old pair and broken and no longer covered to get fixed.

Back to the decision I needed to make. With a 3 month wait looming over me with trying to get my beloved Custom Blue Rockers. I started to look into other alternatives. I found the Kinetic Research Side Element AFO’s. They are made in Florida and are still Carbon fiber. My orthotist has been amazing. She shows me different options that she believes will help me but ultimately  leaves the final choice to what I feel will be best for me. We discussed the side element and pros and cons. They only take a month after insurance approves them. Sure beats 3 months. But then we discussed an option i swore I would never even consider. Thick Plastic AFO’s! The type of braces that kept me out of shorts throughout high school. But the Pros were pretty good. #1 They are Cheaper, #2 Insurance approves faster because its not carbon fiber, #3 I could get them 10-17 days after approval, #4 They are made in house, #5 They are easier to adjust and relieve areas of pressure, #6 They can make them into the Side element design that I really liked. Which all lead to me taking a huge chance And choosing the quickest route.

Being without my proper bracing it caused stress on other body parts, such as the tops of my feet, ankles, knees, and hips (which is the next major muscles and nerves to deteriorate), Back, and even extreme nerve pain. I even ended up breaking another toe, and experiencing a lot more pain than i’m used to.

New afo
My New Hard Plastic AFO
side-element
Kinetic Research Side Element AFO That inspired my new AFO’s
blue rocker
Custom Blue Rockers that changed my life

This past week I got my new Plastic AFO’s and even the original Blue rocker that got sent back under warranty. And for the first time ever I fell into a loop hole and got a backup pair of AFO’s. So hopefully the next time my AFO’s break I will not be without during the lengthy process.

 

 

Pain Management

With CMT the variations are endless. I know several individuals that have CMT that their symptoms are not nearly as severe as mine but I also know some that are worse. CMT is a progressive disease. And onset ages vary as well. Some people are not diagnosed until late in life as some are diagnosed early on. I myself was diagnosed at the age of 12. Pain symptoms I endure are:

Nerve Pain ( Burning – Stabbing feelings) in my hands, feet, and lower legs.

Misfiring nerves (Electric impulses) also in my hands, legs and feet.

Arthritis- (Old People Joint Pain)

Pressure – with CMT comes foot and hand deformities. Among them the fifth metatarsal bone protrudes out the side of each of my feet. It creates a quarter sized point that takes the majority of my weight with each step I take.

There is no cure for CMT. The only thing that can be done is attempt to keep pain under control. I where AFO’s (Ankle Braces) that are custom made to me that the attempt is to spread weight distribution in my feet. Along with support and stability. And then there is medications….. the jury is still out if pain medications are worth the hassle. a lot of times the side effects of the meds are worse then the pain itself. All nerve pain meds are sedative which means the main side effects is drowsiness and fatigue. Which for me makes things extremely difficult because i already battle extreme fatigue. And as a new father drowsiness is not my best friend so a medication that increases that is not an option. I am currently taking a muscle relaxer that helps frequency of misfiring nerves but doesn’t eliminate them or dull the intensity when they occur. I am also on a nerve pain mediation but this particular one causes drowsiness and on top of that doesn’t seem to be working with pain at all. Most likely will be discontinuing once I speak to my doctor regarding it. I was also gifted a few natural oils that help with nerve and arthritis pain. Most likely will be moving forward with these for the foreseeable future. Unfortunately my body is always changing and more muscles waste away further and further. So nothing comes as a long term fix, so for the most part its a grin and bare it ordeal. Today’s fix until tomorrows is discovered.

Doctors

Wow, where do I began? When you think of medical professionals you think of someone that you can trust. That one person who has all the answers. In my experience Charcot-Marie- Tooth disease is a curve ball to them. Just like you most have no clue, and most that do seem like they know what it is, is because they look at your chart and get familiar with it right before walking in the room. Having CMT means lots of doctors visits and lots of different doctors.For me this is a short list of medical professionals in which I NEED:

Family medicine -(Typically the only Dr that most people have) Family medicine (FM), formerly family practice (FP), is a specialty devoted to comprehensive health care for people of all ages; the specialist is named a family physician or family doctor.

Neurologist – A neurologist is a medical doctor who specializes in treating diseases of the nervous system. The nervous system is made of two parts: the central and peripheral nervous system. It includes the brain and spinal cord.

Physiatrist – also known as Physical Medicine and Rehabilitation (PM&R) physicians Physiatrist treat a wide variety of medical conditions affecting the brain, spinal cord, nerves, bones, joints, ligaments, muscles, and tendons.

Podiatrist –  a medical professional, a physician devoted to the study and medical treatment of disorders of the foot, ankle and lower extremity Podiatrists are the only medical professionals who exclusively specialize in treating the foot and ankle.

Orthopedic foot surgeon – is the branch of surgery concerned with conditions involving the musculoskeletal system. Orthopedic surgeons use both surgical and nonsurgical means to treat musculoskeletal trauma, spine diseases, Sports injuries, degenerative diseases, infections, tumors, and congenital disorders.

Orthopedic hand surgeon specializes in arthroscopy of the shoulder, elbow and wrist, trauma, reconstruction of areas affected by rheumatoid arthritis and osteoarthritis; nerve compression syndromes; and pediatric orthopedic hand problems

Orthotist –  An ABC certified orthotist and/or prosthetist is an allied health professional specifically educated and trained to make and fit orthoses and prostheses and manage comprehensive orthotic and/or prosthetic patient care.

Physical therapists-  sometimes called PTs, help injured or ill people improve their movement and manage their pain. These therapists are often an important part of rehabilitation, treatment, and prevention of patients with chronic conditions, illnesses, or injuries.

Occupational therapists- use special equipment to help children with developmental disabilities. Occupational therapists treat injured, ill, or disabled patients through the therapeutic use of everyday activities. They help these patients develop, recover, and improve the skills needed for daily living and working.

Needless to say I get to know a lot of different doctors. And with each of these doctors I am extremely picky. I have been lied to, told I don’t know correct information regarding Charcot-marie-tooth disease (it’s not like i live with it every day of my life or anything). As these bad experiences with all these doctors continued I made the choice that I would call them out once and if they can’t be honest with me about their knowledge on my disease that they are treating me for then I dont need to stay. As of today I have walked out of three separate doctors offices. Praying I dont ever need to do it again. But my point is doctors dont always know your condition and sometimes they aren’t honest regarding such knowledge. But when I find good doctors i then try to stick with them for as long as possible. This is an ever-changing list and I dont have a single doctor now that I had 18 years ago when I was diagnosed. My longest standing doctor patient relationship is 10 years. My family medicine doctor has surprised me by knowing so much about CMT and even treats other patients with it.

As always ask questions  Comment, Share, and if you would like to get better updates please subscribe. Thank you all for your support and God bless!

Ankle brace issues

So my ankle braces are my lifeline. But yesterday became a difficult reminder on how messed up medical nessassities are over looked by insurance companies. I recently broke my left ankle brace. Today I went and saw my Orthotist so I can get it replaced. They come with a one year warranty and I came in with two days remaining in that time line. Now the huge downside… The braces I get are the Allard Custom Blue Rockers and need to be shipped to Sweden to be fabricated. This process takes approximately 2-3 months. Yup months and insurance doesn’t allow a second pair for back up purposes. Which would make a wait of months barrable. Instead they will fix only what is broken and people like me are forced to suffer even more. So a little on why I NEED ankle braces. The muscles in the feet have two main muscle movements. Plantar flexion which is the “Gas pedal” movement. I have this movement but it’s maybe half as strong as it should be. And then there is dorsal flexion (think dorsal fins on fish) upward movement. I don’t possess this movement. Nerves and muscles in my feet don’t flair at all. This causes severe foot drop. The braces I wear have solid foot plates that keeps my feet flat as if I don’t have foot drop. One of my biggest struggles with ankle braces is derablility. The purpose is to provide a more active life style. Unfortunately the more active you are the quicker they break. 

The Early years leading to my diagnosis

This topic is particularly difficult for me in many ways. Although Charcot-Marie-Tooth disease is a hereditary disease, I have no one in family that has it. My case is a rare one because it was caused by a mutated gene during pregnancy. At the early age of 3 I was prescribed with orthopedic shoes to help with flat feet and I continued to wear them for the next several years. Shocking to think that I at one point had flat feet. (I’ll get into that in another post)

My Mom was approached but a guy that worked with Shriners and he thought there was something going on. But with a child that age I can only imagine what my Mom was going through having people comment and judge for things they do not know. Around the age of 5 I became very involved with sports just like most kids that age. It didn’t matter how good I was at them, I just enjoyed having fun and not letting life bring me down. I had a great group of guys that always seemed to be on all the sports teams I joined. I took part in multiple years of Soccer, Basketball, and baseball. And one season of flag football. Baseball I enjoyed the most but it also took a toll on my family hearing week in and week out from other parents ridiculing the fact that I struggled to run. At the age of 10 I ended up moving to a new school with a new group of kids. Joined a new basketball team and got hit with negative people. Got harassed and made fun of for being different. And that ended my athletic career. Only to have come out of retirement to join an old man softball league last summer. Hit a single first time out and struck out my second time up to bat. My bodies limitations made it known I was pushing too hard. Ended the remainder of the season base coaching.

With all of these sports going on in my life it became very noticeable that my balance was getting and my body just couldn’t handle the pressure of running. My Mom started seeking doctors that could help figure out what was going on. This little boy with a huge heart wanting to push past judgment, and push his physical limitations. I ended up seeing specialist after specialist with the only possible diagnosis being Cerebral Palsy until I was sent to a nueroligist for testing. Now the real fun began… the neurologist ordered Genetic studies, nerve biopsy, and finally electro-diagnostic tests. This testing consists of two parts: nerve conduction studies and electromyography (EMG). During nerve conduction studies, electrodes are placed on the skin over a peripheral motor or sensory nerve. This is a test that I wouldn’t wish upon anyone. At the age 12 I had it done and it was the worst pain I have ever experienced. Think of it like you grab onto an electric fence with both hands for three seconds and then three seconds later doing it all over again. This test took about 45 minutes and when I asked for them to stop they had my mom come into the room and hold my hand as I convulse in pain.

The results came in…… Charcot-Marie-Tooth X1. Its usually mild in women but in men there is moderate-to-severe peripheral neuropathy. CMT X1 there is usually sub clinical central nervous system involvement such as mild clinical signs, MRI cerebral white matter abnormalities and EEG abnormalities.

Mild-to-moderate exercise is effective and safe for patients with CMT disease. But if not caught early enough the muscles can waste away enough and atrophy to the point of no return as has occurred through most of my lower legs and my hands. I also wear Ankle Foot Orthodics everyday to help combat the severe foot drop and lack of ankle strength and support. Back after first being diagnosed I had to wear night splints, in hopes to improve range of ankle motion. The feeling they gave is comparable to standing on the balls of your feet on the edge of a stair. It pulls on all of your lower leg muscles and is far from comfortable and next to impossible to sleep with that pain going on all night. Needless to say night splints have since been deemed to hold zero proof to be effective. Braces and pain medications are only able to try to make life a little more comfortable. But ultimately the is no cure.

Thank You for checking out my new blog. Please remember I am not doing this for pity. I have decided to share my story and my experiences for awareness purposes. Please feel free to ask questions. Your questions will help create topics for future posts. Thank you and God Bless!!!

What is Charcot–Marie–Tooth Disease?

OK Friends,

Blog post #1

First off… Yes this is a extremely funny name for a disease. But no there is absolutely nothing wrong with my teeth and no it has nothing to do with Sharks. Even with the acronym of CMT we still get the comments of Country Music Television. All these things and more are just a reminder to us in the CMT community that people just don’t know. Charcot-Marie-Tooth is named after the three physicians who were the first to describe it in 1886: Jean-Martin Charcot, Pierre Marie and Howard Henry Tooth.

So funny names aside what exactly is it? CMT is a group of inherited disorders that affect the peripheral nerves, which are the nerves outside the brain and spinal cord. There are 90 kinds of CMT. CMT is just one kind of neuropathy (also called peripheral neuropathy), meaning simply that the peripheral nerves are damaged. There are many other causes of neuropathy, including the most common cause—diabetes.

CMT is often referred to as the most common disease that nobody has ever heard of. Common???? Really? Well yes 1 in 2500 people have CMT. Here are some shocking numbers. I’m willing to bet that you have probably heard of ALS. And most likely heard of MS as well. 1 in 3,333 have MS and ALS is even less common with 1 in 500,000 having it. But yet CMT is still under the radar, why? A lot of us are ashamed and/or embarrassed by it. I myself hid from it for years and refused to wear shorts because people would look at me funny or worse embarrass me by asking me about it. Times have changed and now my goal is to educate and inspire. CMT needs to be a household name.

CMT is inherited. It is not contagious, nor is it caused by anything in the environment. The most common forms of CMT are passed down from one generation to the next, meaning that it is dominantly inherited.

Some forms of CMT are recessively inherited—a person may be affected even though his or her parents do not have CMT. In this case, each of the parents harbors a mutation in one of their two copies of a CMT gene. If a child inherits one mutated CMT gene from each of their parents (the chance of this happening is one out of four), the child will develop CMT.

Sometimes the mutation that causes CMT happens spontaneously during the process that produces the eggs or sperm. In these rare cases, a child will have CMT even though neither parent has CMT. If a child has such a spontaneous mutation, he/she may pass that mutation down to his/her offspring. (And in my case this is what happened with me)

Some types of CMT cause damage to the covering (myelin sheaths) that surrounds nerve fibers. Other kinds of CMT directly damage the nerves fibers themselves. In both cases, the damaged nerve fibers result in neuropathy. The nerves in the legs and arms, which are the longest, are affected first. Nerve fibers that create movement (called motor fibers) and nerve fibers that transmit sensations (called sensory fibers) are both affected. CMT causes weakness and numbness, usually starting in the feet.

In the most common kinds of CMT, symptoms usually begin before the age of 20 years. They may include

  • Foot drop (inability to hold foot horizontal)
  • Foot deformity (very high arched feet)
  • Slapping” gait (feet slap on the floor when walking because of foot drop)
  • Loss of muscle in the lower legs, leading to skinny calves
  • Numbness in the feet
  • Difficulty with balance
  • Later, similar symptoms also may appear in the arms and hands

    (All of which I have. Plus some)

 

Thank You for checking out my new blog. Please remember I am not doing this for pity. I have decided to share my story and my experiences for awareness purposes. Please feel free to ask questions. Your questions will help create topics for future posts. Thank you and God Bless!!!

 

Next Post Topic: Early years leading to my diagnosis.