What form of CNM/MTM do you have?
I have the x-linked form.
When did you first get diagnosed?
I was first diagnosed in the spring of 2001 when I was eleven.
What symptoms prompted your diagnosis?
They were very mild symptoms such as flat-footedness, foot pain, and weakness.
How long did it take to get you diagnosis?
It took several years before I received a definitive diagnosis. The first hospital I went to was in Indianapolis when I was eight. While there, they initially treated me for being flat footed and my tight Achilles tendons were the focus. I bounced from clinic to clinic after that until Shriner’s Hospital in St. Louis. It was here that they performed a muscle biopsy which showed that I had CNM.
What impact did the diagnosis have on you?
As odd as it sounds now, at the time it was almost a relief to find out that I had limited control in my strength. When I was eleven, the only thing I was upset about not doing was running fast and it was very frustrating to not be able to change that. Walking up steps, getting out of chairs etc weren’t factors to me that early in my diagnosis. Furthermore, I wasn’t willing to accept the future implications and so the best way that I felt it should be handled was only letting a few people in on what I was diagnosed with. At this time though, I hadn’t considered how it would progress as I got older once I grew taller etc.
Have you explained CNM/MTM to family members and what was their reaction?
Since I was young when I got diagnosed, I never really had to explain it to any family members. My parents, my brother, and three sisters have always been extremely supportive when it comes to my condition. Nonetheless, there was a difficulty when the condition progressed. Initially I didn’t need help with everyday tasks, but it reached a point late in middle school that I noticed that I needed a hand up steps etc and to me that was difficult to let anyone in on–let alone my family. But ultimately they’ve always been beyond supportive.
What are your current symptoms?
Difficulty walking, getting up from chairs, walking up stairs. I also have joint pain some of the time, as well as back pain. I also developed scoliosis a few years back which adds to the difficulty of walking since I’m favoring my left side.
What treatment are you having, and have you had?
I’ve worn orthodics in shoes. I also work on soft impact strengthening exercises to maintain the strength I have. For a while I also went to aquatic therapy sessions.
What advice would you give to someone who has just been diagnosed with CNM/MTM?
Be informed, stay a step ahead of the condition. Don’t be afraid to ask for help and don’t let it impact your day to day routines any more than it should. The muscle condition has its limitations, but don’t let that bring you down. Just like any other limitation in life, you have to learn from it and find a way to overcome it.
What’s your favourite book/film/music?
That’s a tough one! Favorite book would be Scar Tissue. My favorite film is: Kill Bill Vol. 2. Favorite music: The Red Hot Chili Peppers.
What did you want to be when you were younger?
I wanted to be a few things when I was younger. A writer, play for the Indiana Pacers, a songwriter, a musician, and a journalist.
What is a favourite/memorable event from your childhood?
Shooting hoops in the backyard of my old house.
Who do you think has most influenced you in your life and why?
My parents have always been a great influence in my life and have passed down great principles to me, but the other person who also has influenced me a lot in my life is my older brother Jack. He’s lifted me up figuratively and literally.
What’s the best advice you’ve been given?
The best advice I’ve been given has been to not sell myself short.