It’s been a long past couple of weeks. I can feel my body giving up. I struggle in doing any little task. The pain is never ending. It’s scary that my disease has progressed furiously. I refuse to sink, but I just want to rest for a few weeks with nothing to do. My neurologist put me on some new medication and it helps, but brings concerning side effects. I wish there was a quick fix for relief, but there isn’t. I can see the fear in my kids and husband’s eyes when they see me struggle. I carry guilt eventhough I know that having LGMD2J is beyond my control. I pray, but have doubts on whether or not I am doing it right. I need a miracle, but am I worthy of receiving one? What will life be like for me in a year from now? Will I be able to walk? I can barely stand up from a seated position. It has become increasingly difficult to stand up. I sat on the floor to care for my daughters sick pig while everyone was out and it took me 8 minutes to get up from the floor. 4 of those minutes I sobbed with frustration. I fall easily and fear that I am going to break a bone. The thought of that seems bittersweet. I’d have down time, but it would bring additional pain and burden my family even more. We spent the week at our county fair and I sat there watching people walk carelessly. They didn’t have to focus on the ground and worry about falling. They were able to bebop to wherever they wanted to go. They were having fun. I sat there and watched them enviously. I wanted to be able to walk around with my husband and visit with our friends. I wanted to walk with my daughters and enjoy the sights. But I sat there and watched others living life while I am a prisoner in my body. My mind wants to live life, but my body is too tired. I hate to have a pitty party, but today I am. I will try to be stronger tomorrow.
Every day is a struggle, but I try to focus on what makes me want to fight my disease. My children, my husband, my family & friends. When I was first diagnosed with Limb Girdle Muscular Dystrophy, I told myself that I would fight, I would advocate to others, I would rise above my debilitating disease and be an inspiration to others. I was successful in doing this until my pain decided to move in and unpack! It’s absolutely exhausting being in pain constantly. You forget what it’s like to not feel pain. You fake your smiles to make others feel comfortable. Who wants to hear you complain 24/7? The pain makes me feel depleted & I wonder if I will ever get some relief. Today I choose to rise above the pain and try to be happy. It’s not going away anytime soon so I have to figure out how to live with it. Because I want to LIVE! Gonna focus on my faith and family. 💚💙
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.