“Go confidently in the direction of your dreams! Live the life you’ve imagined!” -Thoreau
I’ve been thinking a lot lately about the life we imagined living, and this isn’t quite what my husband John or I had in mind. Don’t get me wrong; I am beyond grateful for my husband, our families, our friends, our community, our home, and our two beautiful boys. If everything in life worked out exactly as we planned, surely we would be bored and/or spoiled, right? My theory is to thank God every day for the twists and turns along the path, but it’s not easy for me to do. It is hard to stop comparing our little man to his older brother and friends’ kids. Sometimes I wonder “Why us?”, but I usually answer myself with “Why not us?” We have decided to share our journey openly because I hope that doing so will help other families of children with rare disorders in addition to keeping our family and friends informed of Joel’s progress. I have always believed in miracles, but I think sometimes we miss them when we’re not paying attention. Parenting a miracle is a privilege. Joel has already taught us far more than we have taught him.
We have known for several months that our sweet nearly-18-month-old Joel is globally developmentally delayed and that he exhibits low muscle tone, also known as hypotonia. We’ve been working with the county’s early intervention system since Christmas to get him physical and occupational therapy. At the end of February we met with a very experienced developmental pediatrician at Children’s Hospital who referred us to a neurologist and an ophthalmologist in addition to ordering bloodwork and a MRI of Joel’s brain.
When we took Joel in for his MRI in early March we learned that his bloodwork showed an elevated CPK level, which can be indicative of a muscular dystrophy. They took Malignant Hyperthermia precautions when sedating him because of this. The next week we met with the neurologist who explained that Joel’s scan showed Heterotopia and Pachygyria, a rare disorder that occurs when the brain is formed. At this time we do not know what caused the neurons in his brain to stop migrating properly. Our neurologist ordered a muscle biopsy for our little guy, a same-day surgery in which they removed tissue from Joel’s upper thigh. We also met with the ophthalmologist who diagnosed Joel with Cortical Visual Impairment. This basically means that, while the structure of his eye is fine, his brain has trouble processing the things he sees, and so we have also begun consulting with a visual therapist.
The neurologist called me at the beginning of May to tell me that he no longer suspects Joel has Muscular Dystrophy based on the results from the muscle biopsy! We were sure he did have a form of MD on top of Pachygyria and were simply waiting to determine the type. Joel does have an imbalance of muscle fiber types. Typically a person has an even distribution of 3 types, but Joel’s muscles are apparently 70% Type I fibers. They have also detected a mitochondrial abnormality in which 2 out of 5 protein complexes are not functioning properly. (Forgive me if my “science” doesn’t quite make sense!) We await more results from the same biopsy, so there could be more discoveries. I never thought I would be relieved to think (at least for now), “My son *just* has a serious brain abnormality!”
Joel continues to make excellent progress, and we joyfully celebrate each incremental milestone (or “inchstone” as another SN mama put it). He is soooooooo close to army crawling and sitting. His PR for independent sitting is 2.5 seconds, achieved just last week! He’s starting to vocalize more (“Mmmmm” is milk…), and soon we will be adding speech therapy to his line-up. He also is showing some interest in self feeding and food textures. He is the sweetest, happiest guy ever and loves to play and laugh. His brother Luke (3 1/2) is an awesome coach, and together the boys are hatching great plans for their future.
Definitely not the life we imagined, but I’m on my way to thinking that it’s going to be just as good, if not better than we dreamed.