Thinking Out Loud

Hello and welcome back to another blog! Every time I hear that Ed Sheehan song that starts out “when your legs don’t work like they used to before” my mind wanders. I know it’s a love song written about growing old together. I think, how true that already is for me. My legs don’t work like they used to before. I think, will they soon no longer work  at all? When is that day coming if it is? Am I prepared? 

It’s the sobering reality of living with a progressive muscle disease. I’m fortunate that my type of Muscular Dystrophy, Bethlem Myopathy, is slowly progressive. Some people aren’t aware they have MD until their later teen years or in their 20’s or maybe even beyond. Some are like me, and have never known not living as a disabled person.

Pictures from the day I was finally diagnosed correctly, it was a very happy day to finally have answers!

I wanted to recap my journey with MD so far for anyone new here. I’m 47 years old, and married to my high school sweetheart. We have two beautiful sons that I was fortunate enough to be able to carry on my own with some adjustments during both pregnancies. Both of  my boys were born via c-section. Neither of my boys lives with Muscular Dystrophy, which is truly a blessing for which we are so grateful, but MD has greatly also affected their lives through their mother. 

At the age of 17 months, my parents noticed I wasn’t independently walking. I would pull up on things and walk around holding on, but never letting go. They decided to take me to what would be the first of a lifetime of endless doctors visits. 

For them, it was a long road. Doctor after doctor, they were told things like, I wouldn’t live long, to she’ll never walk, to if she does walk it won’t be for long, she will be in a wheelchair. All the scary things for parents to take in and hear about their baby. My parents carried the baton, and passed it on to my doting husband when we got married. I’m sure they felt so unsatisfied that we were never able to get that answer of what was causing my weakness while I lived with them. No definitive diagnosis. Just lots of guesses. 

I was misdiagnosed numerous times throughout my life. I can’t tell you the toll that takes in a person. Each time I felt relief and thought I had answers, only to later find out that actually wasn’t my correct diagnosis. We went all over searching for answers. It affected the whole family. It robbed them of time, my sister of time, and me too. Lots of it. However it was our story, and there were plenty of good times in between. 

My husband and I continued to trudge on through the ever changing medical world. We were always hopeful the answer I had spent a lifetime searching for was right around the corner. About 23 years into our journey of searching together, we got our answer. I spit into a tube my neurologist gave me, and prayed for the best for the genetic test, which before had just financially not been an option. Genetic testing has come a long way, and is actually affordable and often times even free these days. 

Turns out I didn’t have the disease he was thinking I had, which was a nerve disease. He accidentally ordered the wrong test, which turned out to be my answer. I found my diagnosis at 44 years old through a fluke. The irony of it all was just spot on. I will never forget where I was sitting when I got that call from the geneticist. It’s such a vivid and surreal memory. My body went numb. It was all the emotions at once. It was also a moment that only I could fully know what it felt like. This time it was for real. 

44 years is such a long time to deal with uncertainty. Not knowing what disease is living in your body. Having no clue what came next. Would I wake up one day and just no longer be able to walk? I had no idea. Living like that is traumatic. It was a lot of internal struggle that I had no one to really talk to about that could truly understand. I didn’t know anyone like me.  Being correctly diagnosed meant I could finally breathe, and could have a plan, which I never had before. A mission, a dog in the fight. 

So, I began to fight with all my might. Immediately I started sharing my story, and connecting with others with my same diagnosis! I could now say this is what I’ve lived, and you or your child can too. There is hope! You can do this! Something my family and I so desperately needed, but never had. 

In closing, I’d like to share a message from someone who reached out to me a few weeks ago. She too lives with MD. She’s followed my story, it’s given her hope. She says this…”actually seeing you and your condition inspired me to become a mom, and not let it scare me from getting pregnant”. Her baby boy is due this month. If that’s not living humbly courageously then I don’t know what is. None of us knows what tomorrow will bring, but one thing is for sure, today there is hope. 💚