THE DYSFERLINOPATHY JOURNEY
THE DYSFERLINOPATHY JOURNEY
My journey to a diagnosis was a long, confusing one. I was a normal, active child, but in high school band I started to notice that I couldn’t jump as high or run as fast as some of the other girls. Once when I went to a doctor for another issue, I had blood work drawn. My CPK levels were sky high and doctors had no idea why since I did not show any other symptoms at that time. Later, I was taking an aerobics class and one Monday, the instructor said, “Get up on your toes, girls!” and I couldn’t do it. I actually looked down at my feet expecting them to move, but they didn’t. I had gone to the same class the Friday before and could perform the task easily. It seemed to happen that fast.
I went to our family doctor and was sent to a neurologist. Doctors simply did not know what to do with me. “Hmmmm… Let’s send you….” was the phrase I heard most often. I had an elevated CPK and loss of muscle, but overall was very active, in no pain, and thus I was very unconcerned. To complicate matters, my family history is full of autoimmune diseases. Because of this, every doctor I went to assumed it was some type of autoimmune disease. I was given the diagnosis of Polymyositis in my mid-twenties and was started on Prednisone. I got worse quickly and stopped taking it.
In the mid 90s, a doctor found a description of Miyoshi Muscular Dystrophy on the internet and we all thought it sounded like me, but I don’t have MD in my family, so we assumed it could not be. Since I was teaching then and had great insurance, my doctor sent us to the Mayo Clinic in Minnesota. After a week of testing for autoimmune diseases and muscular dystrophy, it was finally determined that I had a form of MD, but would require more testing to discover the exact form. Since I had spent years dealing with doctors that did not know what to think of me, I stopped looking. I couldn’t stand the thought of starting up the process again. And I still had a very busy life with symptoms that were managable.
In my 30s, my body was starting to move more slowly. I couldn’t climb stairs without holding onto a rail, and I was having trouble getting out of a chair. But I had tricks for everything, so it was all manageable. I started to walk with a much more pronounced limp and began using a leg brace. Long distances were becoming more and more difficult, but again, I just changed my style of teaching or how I did things at home. After talking to a genetic counselor, my husband and I decided to have children. My first daughter was born in 2002. I, of course, did not feel comfortable carrying her in fear I would drop her, so I had a system of strollers and friends and family I called “baby carriers” to help me and my precious Abigail. In 2005 we found out we were expecting another baby in the fall. Hurricane Katrina hit while I was 7 months pregnant and I was still able to walk and slowly maneuver.
One of the doctors that was caring for me while I was pregnant was determined to find out what I had. He took blood and sent it somewhere, though I don’t remember where. I received a letter that told me I had Miyoshi Muscular Dystrophy. It was finally a diagnosis after such a long time looking.
After Gracie Anne was born I did start to notice a decline in my ability to walk. I started to use a cane, grocery cart, holding onto walls or counters to get around. Life with active young ones and my disability getting worse was starting to get tough. I started looking for help and found the Jain Foundation. They were the only ones that understood what I was going through and said there was hope. I still get teary eyed thinking of the first time I talked to them on the phone and saw the website. I felt like I was home, like they had been waiting for me.
I had a nasty fall last January and broke my leg in two places. I slipped on a toy while I was making a peanut butter and jelly sandwich. During my recovery, I discovered that a wheelchair is a much better way to travel for me. Doctors and physical therapists had told me by my mid-thirties I would be in a wheelchair or scooter, but I always said…not me. I wish I had listened. I am currently working full time as a teacher of gifted children and could not continue my career if I was not in a wheelchair. One of my students told me “Mrs. Rhodes, you don’t just rock, you roll!” My daughter told me, I like you as a wheelchair mommy better and I knew exactly what she meant. When I walk, I have to think about every step I take, I fuss if the girls get too close to me. When I am in my chair they climb all over me and I never bat an eye. It took a long time and a major fall to realize I needed to be in a wheelchair, and I wish I would have accepted that fact earlier. I could have done a lot more.
The downside to my manual chair is that it has caused my arms to deteriorate more quickly. I am having trouble with them now because of the progression of the disease and the fact I have overworked them. So, my journey of acceptance and change continues. I know I will make the changes I need. It has been hard, but everyone’s life is hard. My support system is vast and wonderful. My family is close and there for me anytime I need them. And luckily, I have an amazing husband who has been with me throughout this whole ordeal. When I couldn’t be positive or see the light, he could. When I say, no way could a wheelchair go there, he gets a smile and says, “Are you kidding?!”
He is my rock. I guess that means I roll.
Thank you Jain Foundation!