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Diagnosed with Duchenne

Welcome to my blog, where I share my experiences of living life with a disability. In this post I will tell you about my diagnosis with Duchenne Muscular Dystrophy.



The Events Leading To Diagnosis

When I was about five years old, my parents had noticed that my mobility was slow for my age. They actually noticed it years before because it had taken me longer to begin crawling and walking. They weren’t really too concerned about it at the time because I was born six weeks premature, so they figured that’s what was causing the slowness in mobility. It wasn’t until I was around the age of five that they truly started to worry. At this time, my parents realized that I was struggling with my mobility because of a more serious issue. They noticed that it was taking me longer than normal to learn how to ride a bike. In fact, I never ended up riding a bike because I was unable to. They also began to observe that I was having trouble getting up off the floor. When getting up off the floor, I would have to either use my hands and walk them backwards until I was in a standing position or crawl to an object and use it to pull myself up. One of my uncles also noticed that something was wrong with me and suggested that my parents take me to the doctor. Because of these concerns, my parents decided that they should take me to the family doctor to figure out what the problem was. They had no idea that their world would be turned upside down and that their lives would change forever.


The Diagnosis

My mom called and made an appointment with the local family doctor as soon as possible. My dad was not able to make it to the appointment because he is a truck driver and was on the road for the week, so it was just my mom and I. When we got to the appointment, she told the doctor about all of the concerns her and my dad had. After hearing what my mom had to say, the doctor told her that he had a suspicion that I had Muscular Dystrophy but wanted to do some tests to be sure. So the doctor did some blood tests and called my mom a few days later with the results. He told her that my creatine levels were abnormally high, confirming his suspicions. She was at work at the time and answered the phone in her office. Along with the diagnosis, the doctor told her some information about Muscular Dystrophy. One of the things that he told her was that I would probably die during my teens. After hearing this devastating news from the doctor, my mom sat in her office and broke down and cried. After work, she picked me up from the babysitter and took me to my grandparents to break the news to them. When they heard about my diagnosis, they were extremely saddened and concerned. It wasn’t until later that evening when my dad got home that he found out about the test results. He didn’t take the information very well and became absolutely devastated. A few weeks after the initial diagnosis, my parents and I went to Omaha for an appointment at the Muscular Dystrophy clinic for some more tests. With these tests, they discovered that I had a deletion of exon 51, meaning that I had Duchenne Muscular Dystrophy (DMD).


Post Diagnosis

After being diagnosed, my family and I were introduced to the people at the Muscular Dystrophy Association (MDA), who offered us many helpful resources. With a diagnosis of such a terrible disease, my parents were extremely upset with the situation. My mom became very depressed and felt that way for a couple of months. She was able to overcome this depression by attending support groups through MDA. In these support groups, my mom was able to learn how to cope with the diagnosis and deal with situations that would arise from the disease. She learned these things by listening to stories from other parents’ experiences. My dad was extremely confused because he didn’t know anything about Muscular Dystrophy and MDA was more than helpful with giving him the information he needed.


How Can You Get Help?

If you have concerns about your child’s mobility, please don’t hesitate to take them to the doctor to get checked out. Also, if you know someone who has a child that has complications with mobility at such a young age, please encourage them to get help from a doctor. If you have a child or know someone who has a child that has been diagnosed with Muscular Dystrophy, the Muscular Dystrophy Association has some really good resources to help with overcoming the challenges of this terrible disease. MDA is extremely supportive and will always be there to help.


How Can You Get Involved?

If you would like to help spread the word to people in need, please don’t hesitate to share this post. You can also share your experiences with diagnosis in the comments below to let your story be heard to help others. If you are new to these experiences and are looking for help, feel free to ask any questions in the comments and I will help you as best as I can. You can also send any questions to me at zach@zjmotivation.com. If you would like to reach out to me on social media, feel free to connect with me on Facebook, Instagram, and Twitter. I would love to hear from you!


Thank you for reading this post and learning about my diagnosis with Muscular Dystrophy! I hope you enjoyed and I hope to see you again soon!


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© 2019 by Zach Jorgensen.