My name is Chris and this is my first year being paired with a runner for Running For Rare Diseases. I am a 28-year old patient with Miyoshi Myopathy â€“ a late-onset muscle disease, and currently live in Brookline. I am paired with Sara Cole and have had the wonderful opportunity of getting to know her over the last month or so. I have been keeping up with the blog posts and the Facebook page, and have been blown away by the kindness of the community and the resilience of my fellow patients.
Up until I graduated from college, I experienced no symptoms of my disease. I was fully able to play sports, run, climb stairs and go to the gym â€“ everything that a young adult is supposed to do. When I graduated from Northeastern (go Huskies!), I started working in Boston, and it is around this time whenÂ my symptoms began to manifest. I would go for a run and not be able to run as far as the previous time. I began having trouble carrying heavy objects up the stairs. I would play basketball and tire out much faster than normal.
In one sense I was lucky. I actually found out I had this disease four years prior as a senior in high school, when I was involved in a car accident and my blood work came back abnormal. Eventually they diagnosed me with Miyoshi Myopathy, which is caused by the lack of the dysferlin protein. Dysferlin helps with cell membrane repair in muscle cells, and without dysferlin, your muscle cells gradually die off. For reasons unknown, it tends to show itself later in life, rather than most forms of muscular dystrophy, which manifest at birth. I remember being perplexed at my diagnosis, but also relieved that it wouldnâ€™t show symptoms until later in life, if at all.
Once I graduated from college, it decided to rear its ugly head. My strength has gradually deteriorated over the past seven years. The initial symptoms were unsettling but I could still keep my head in the sand and live a relatively normal life. Soon however I began to fall, which really was when things got tough. I would walk down the street, my knee would buckle, and I would collapse onto the sidewalk. In the beginning I could pick myself up, but I am at the point now where if I fall, I need others to help me up. Stairs have become impossible. Simple tasks such as combing my hair or shaving are now difficult as I canâ€™t lift my arm up high for a long time without needing support. I use crutches to get around and recently became the owner of a new scooter. Itâ€™s been a tough adjustment, but I do my best to keep a positive attitude. Besides, there are many diseases far more cruel than this one.
That said, I didnâ€™t handle it so well at first. I was often angry and depressed and envious of others who were fully able. There was no epiphany moment necessarily, but eventually I got tired of this mindset and decided to do everything I could to fight this disease. I began writing about my experience and sharing it with others, and have found that to be very therapeutic. Over the last couple months I have started my own personal blog, which you can find at www.sidewalksandstairwells.com. Before that I blogged for the Muscular Dystrophy Association, which allowed me to meet fellow patients and researchers working on muscle disease. Last year I was invited to their annual conference in Chicago and had a great time.Â My association with the MDA has been tremendously rewarding.
I also decided to go back to school and get my MBA, so that I could work at a biotech company or a foundation working on muscle disease research. I am currently a first year full-time student at Boston College, and am having a great time. It is also my excuse for why itâ€™s taken so long for me to write a blog post â€“ I haveÂ homework once again, the dreaded “H” word.
I look forward to reading everyoneâ€™s posts and getting to meet all of you over the course of the next couple months. Thanks again to Sara, Amy Atwood, and everyone else who is involved with this wonderful cause!
Chris your title is really meaningful. This sounds like a hard journey and it’s great that you’re willing to share (the ups and downs).
I’m sure the motivation for your current studies will keep you focused and help you to get through that homework. Keep at it!
Hi Chris, I know exactly how you feel. In other words, been there done that. I have Miyoshi Myopathy to. Mine became noticeable from when I turned 18. Its a bitch of a disease that not much can be done to stop it. I have falls every now and again and found I am fearful of falling at anytime. I have never used crutches as they seemed to be more of a hindarence for me, so I used walking sticks when out and about, but now I have a forearm walking frame and a mobility scooter, and as luck happens I still drive as the legs relatively ok when not stood on them. It seems to affect people differently even though its the same symptoms If you want to contact me, don’t hesitate. By the way, I am 52 years old, so maybe I can help you with information from the side of a older person.
Thank you for sharing,
We are so glad you joined our team and are sharing your story – thank you! Hope to see you soon!
Wonderful post Chris! I look forward to meeting you in the coming weeks.