My Greatest Fear About My Child’s Rare Disease

When I was pregnant, I obsessed over every little thing to prepare for our first baby. I downloaded several pregnancy apps and read the popular pregnancy books. I worried about which parenting methods we would use, what baby products were the best and which sleeping position would be safest for our newborn. I worried about the food I ate and the vitamins I took to ensure my baby’s best chance at a healthy start. Nowhere in these books and apps did they prepare me for what to do when your baby is born with a rare disease. Or what to do when you’re told your child’s disease has no cure.

The first time I sang “You are my sunshine” to Ethan as a newborn, I was rocking him on my chest in a chair in the PICU. His little body was connected to so many lines, tubes and monitors. When the line “Please don’t take my sunshine away” came up — I choked up. All of a sudden this song had turned into a personal prayer request. This sweet song I had heard so many times had taken on a whole new meaning. We didn’t have a diagnosis at that point, but the fear of the unknown was troubling.

I live with this intense fear that quietly follows me everywhere I go: the fear of losing my baby boy to this disease. I spend all day listening to him breathe, trying to stay one step ahead of a choking episode or breathing emergency with his suction machine never far from us. It’s the thing I am most afraid to talk about. It tears me up inside to even think about it. I don’t even like to entertain the idea. Life isn’t guaranteed for any of us, but a rare disease can make it more of a concern. Being a part of the world of rare diseases, I see all too often babies, children and adults taken from their families way too soon. Unfortunately, it’s a part of the rare disease world that few people want or know how to talk about. Because a part of this world is loss, we are driven to look for answers and hopefully a treatment. These families who have experienced loss from a rare disease are more than statistics. I’ve been blessed to have become friends with a few of these families. They are beautiful, loving individuals who have touched our lives. Every single one of them made our world a better place with them in it. We honor these angels by pushing forward. This is why it’s our mission to bring awareness and hopefully interest in research for a cure for our loved ones and future generations.

Without a doubt, we have been blessed to be Ethan’s parents. He came into our world with a bang and he fought like a warrior to get through the first few rocky months. This beautiful little boy has and continues to teach me so much about life and the world. He works so hard and inspires me daily. He is my miracle baby.

As a parent, all we dream for our child is the best life we can provide for them. To see them smile, laugh and explore their world and to never experience pain or sadness. Of course this is inevitable, but I desperately want there to be a solution to his everyday struggles. I want to know that he can have a chance at a longer and healthier life.

The idea of a “cure” to a rare disease seems so obscure and almost like a fairy tale. How often do we see muscle diseases/disorders that have treatments that work? Rarely. That’s why I think this is where we lose focus. We sit on the sidelines and hope someday someone will magically find a cure. We need to do more. A treatment or cure is rare but possible. Take myotubular myopathy (MTM) for instance. A community came together and, with dedication and the right resources, they have made great strides in gene therapy for this myopathy. This shows that there is hope for congenital myopathies, and I have hope we can do this for nemaline myopathy (NM), too, with the right support, commitment and resources. Time is of the essence because this process takes years, and we need to find something for Ethan and his NM family now.

So even though I’ve shared my biggest fear, I want you to know my fear will never outweigh my love for my child. Instead, it will push me to strive for the best life possible for him. Ethan brings an incredible amount of hope and faith into our lives. We are told there is no cure for this disease, but we will not give up hope. Like every parent, our child Ethan is the world to Scott and I, and we will do absolutely anything for our son.

For more information on research for NM, take a look here. For our T-shirt fundraiser, click here. To look into the amazing work happening for MTM, visit their site here.

Follow this journey on Super E – Our Little Panda.

The Mighty is asking its readers the following: If you could go back to the day you (or a loved one) got a diagnosis, what would you tell yourself? If you’d like to participate, please send a blog post to community@themighty.com. Please include a photo for the piece, a photo of yourself and 1-2 sentence bio. Check out our Submit a Story page for more about our submission guidelines.

Nemaline Myopathy

My Greatest Fear About My Child’s Rare Disease — And What Outweighs It