What’s wrong with me?

As a little girl, I struggled with always my legs. I remember going to countless doctors appointments and being told at all of them, that I had short achillies tendons. I was a toe walker. I could never keep up with the other kids and when I tried to, it cost me a lot of pain. I was given orthotics and put in casts even though I told my parents and the doctors that they weren’t helping. Doctors wanted me to have achilles tendon lengthening surgeries, but at that time there was a 50/50 chance that I would lose my ability to walk. My parents decided against the surgeries in hopes that I would grow out of it. Entering into my teen years, I just made do with life as I knew it. I was able to rock high heels because they were easy to wear being a toe walker. I steered clear from doing activities that I couldn’t do even though I wanted to: dance, cheer, sports, etc.

I married young and had my first daughter on my 18th birthday via c-section in 2003. The surgery was a shock to my body and it took me awhile to recover. I recovered and enjoyed being a stay-at-home mommy. All I ever wanted to be in life was a mom! I seemed to have pain in my c-section scar and in my abdomen so my obgyn decided to go in and see what was wrong. In 2005, I  had an exploratory abdominal surgery. Apparently, I had endometriosis and a cyst on my ovary. My doctor put a mesh barrier over the endometriosis and drained my cyst. “I was good to go.” In 2006, I gave birth to my 2nd daughter and for whatever reason, I healed quickly. However, in 2007 I once again began to have abdominal pain so my doctor decided to go back in and check it out. He removed a cyst on my ovary and some built up scar tissue and sent me on my way. Unfortunately the pain didn’t end, so in November 2008 I went back under the knife to receive a partial hysterectomy. My obgyn took the ovary that was causing pain & he took the lining from my uterus to keep me from having periods. The day after my surgery I began to get sick. Really sick. I threw up & ran fever for 18 hours. Once I threw up blood, my husband rushed me to the hospital under my doctors orders. I only remember bits and pieces of that hospital stay. There were several different kinds of doctors over me and they ran every test known to man. After a couple of days of tests, my infectious disease doctor told me that I was going through septic shock. After a few more days, I received a picc line & was sent home to finish recovery. I had to give myself antibiotics intravenously for two weeks and received visits from a home health nurse. I eventually recovered. Little did I know, going through septic shock would follow me to this day. I get infections very easily and have to be careful. I also started noticing that I was losing strength in my core muscles. I shrugged it off thinking it was from having two c-sections. Going uphill or upstairs became increasingly difficult. In 2010, my I began to have foot pain so I went to a podiatrist. He instantly said that I needed surgery to lengthen my achilles tendons. I was terrified of the thought of ANOTHER surgery, so I left. I made an appointment for a second opinion. At my second opinion, the podiatrist agreed that I did need my achilles tendons lengthened and mislead me by telling me that this would fix my leg issues. He told me that I would be able to have the life that I have always wanted and that I could actually be a runner! I was nervous about the surgeries, but excited at the thought of a “normal” life so I agreed. I had my first lengthening in July 2010 and the second in December 2010. For the first time, I could stand with my feet at a 90° angle. I was hopeful! I went to physical therapy until I felt like it was becoming a waste of money. Shortly after my foot surgeries, I became unstable. I fell often and drop foot began to set in. Going uphill or up any step was impossible without a rail. What use to be difficult for me to do, was even more difficult to do. We cursed my foot doctor and I just went about life walking worse than I did before my foot surgeries. I was miserable so I decided to go to a different podiatrist who was a colleague of my last one, but he seemed to be more helpful. He confided to me that he believed his colleague had missed a step in my first initial diagnosis. He seemed confident that I had Charcot-Marie-Tooth Disease & sent me to a neurologist for testing. The neurologist told me that I had Carpal Tunnel and Peripheral Neuropathy. She did not think that I had Charcot-Marie-Tooth Disease. My podiatrist was stumped! He had me try vigorous physical therapy thinking that I could gain my strength back. The first time I went to physical therapy I realized that my calf muscles had atrophied. Physical Therapy was pure torture to me! I went back to my podiatrist and told him that I refuse to go through that sort of pain because I knew that it wasn’t helping and I felt like it was causing my condition to get worse. He agreed and didn’t have anything else to offer me. So once again, I went on with life the best way I could. I worked for four and a half years and this past year I felt my body take a turn for the worse. Getting up from a seated position was difficult, walking and balancing became a chore & climbing a step or going uphill was exhausting. A stressful job became unbearable, so I quit. I knew that something was wrong. Really wrong! Not knowing what to do, I went back to my podiatrist. He agreed that my condition had worsened and was going to send me to talk to someone about getting leg braces. (The expensive braces were an absolute joke!) He told me again that his colleague had droped the ball on me and shouldn’t have performed my surgeries. He also wanted me to go to another neurologist for a second opinion. He gave me a number to call and set up an appointment. When I try to call that doctor wasn’t taking any new patients and I became frustrated. Something inside me told me I needed to find answers on my own. I research neurologist in my area and found one that seemed to specialize in neuropathy and myopathy. I called and made an appointment with her and the wait was 3 months! During that waiting period, I began to search high and  for diseases  and people that I could relate to. I knew deep down that I had some form of muscular dystrophy even though the thought of that seemed crazy. People are born with muscular dystrophy right? And they’re diagnosed at a young age right? So it seemed a little far-fetched, but regardless I seem to fit in the category of Charcot-Marie-Tooth Disease or Limb Girdle Muscular Dystrophy. When I went to my new neurologist for my emg ( electromyography) & ncv (nerve conduction study) tests, my new neurologist was amazed. She told me that I was fascinating and that this was not a nerve issue, it was definitely a muscle disease. She also told me that having my tendon lengthening surgeries took my calf muscles and balance from me. She sent me to her director of neurology for a muscle biopsy and genetic testing. I was told that the muscle biopsy was no big deal and that it was not painful. Unfortunately that was not the case. Even though I was numbed, I felt every part of the procedure to some extent. The Director of Neurology was fast & thorough. I went home and recovered on pain medication and antibiotics to prevent infection. But the antibiotics weren’t strong enough and my wound became infected. (Which was normal for me thanks to me going through septic shock years prior) So a week later I returned to the Director of Neurology. He gave me stronger antibiotics and had some of my test results available from my biopsy. He told me that I had a form of Muscular Dystrophy called Limb-Girdle. While I was there he went ahead and took blood for my genetic testing. He told me that he believes that I have the subtype 2A, but wouldn’t be positive until the genetic testing results came in. His demeanor towards me changed. He was a nice man, but became more consoling. Oddly enough I was excited! I finally found what was wrong with me and it had a name. I have Limb Girdle Muscular Dystrophy.

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limbgirdlemama

I am a 32 year old mama & wife! After a long journey of seeking answers, I was recently diagnosed with Limb Girdle Muscular Dystrophy 2J. My life is changing every day. I believe knowledge is power, so I am determined to learn as much as possible about my debilitating disease. Living a "normal" life with LGMD2J is a constant struggle, but I will overcome my bad days and keep faith that I will overcome obstacles. I am a strong woman even if my muscles say otherwise!💚💙

4 thoughts on “What’s wrong with me?”

  1. Diagnosed AT 50! On December 5th 2010, I fell on ice and sprained my wrist. I went through X-Ray, O.T. and it wouldn’t heal. I then went to Dartmouth Hitchcock Medical School to a specialist who wanted to cut me open and do an exploratory surgery for nerve damage. I said “NO” and got a second opinion in Boston at Brigham & Woman’s Hospital with the man who wrote the text book on Limb-Girdle, Dr. Anthony Amato in Neurology. He diagnosed me and continues to monitor my slow progression of LGMD2A. I am grateful for my husband and daughter who are perfectly fine. There is no family history of this disease. I continue to do yoga, hike, bike, fly fish, ski and snowshoe. I have adaptive car, home, desk and footwear. My new mantra is “I’m Whole & I’m Perfect” I continue to tell my my self “Come on Body Heal” Through Massage, Body work, Reiki, Hot baths and Mind over Matter, I continue to battle the pain and Contractures. My Neurologist has gone from “No Cure in Your Lifetime” to “It’s close and we will see results in the near future” Hopeful, Positive and Promising for all of us.

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    1. Thank you for your comment! I am learning more and more about this disease. It is definitely a fact that this disease is no cookie cutter for every case. I have spoken to so many whom have Limb Girdle Muscular Dystrophy 2A & while some stories may have similarities, everyone seems to be different. For me, my disease is taking my ability to accomplish day to day tasks. I pray that there is a cure in my lifetime, but I am just taking it one day at a time. I am keeping faith and a positive outlook even when I am frustrated and sometimes feel helpless. That is awesome that you found the doctor that you did. I do have a question though, do you find it difficult to heal from wounds because of LGMD? I have the same issues & was just curious.

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      1. Hello, I won’t let my MD take my day to day tasks. I’m a fighter and a winner. I believe in moderation and listening to my body. Several falls last winter have proven that I must say “NO” to certain tasks that will waste precious muscle and energy. One fall was when I assisted with a smoke out in the resort I work at. I tripped on a fan cord and fell on a stone landing directly on my face. The black eye took forever to heal, but my body felt like it was run over by a truck for 3 weeks. Yes, it takes longer and more Arnica Gel and body creme! I have never broke anything and my bones are strong. My quads are built up from Rollerblading & Telemark Skiing for 20 yeaars prior to this gift of LGMD2A. Maintaining what musculature I have left will carry me into retirement for a lifetime of camping and exploring our National Parks. I have hope for that cure girlfriend.

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      2. That’s wonderful that you have a lot of strength and are still able to get around easily! It sounds like being diagnosed at 50 you had many years where you were able to lead quite an active life. I know many of us have a different story even though we have the same diagnosis. There is not a time, day or night that I am not in pain. The degree of pain differs day to day but it is 24/7. It makes no difference if I stay in bed all day and say “no” to everything or I go about a normal day as a housewife and mother. The pain is constant. I am a pretty positive person and I believe in the power of prayer. Mind over matter doesn’t work in everyone’s situation. I have had to change and adjust certain areas of my life as this disease affects myself and my family a great deal. My body has never been strong and this past year my disease has progressed to the point where I am considering a wheelchair for certain parts of my life. I am learning to prioritize what is important to me and am embracing the days the best I can – good ones and bad ones. I think it’s important to give myself the space to grieve the things this disability has taken away from me and my family but also to look for the bigger picture and have faith. I have much hope and believe a cure can be found for us both!

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