Maia has congenital muscular dystrophy. When she was eight months old, we noticed that she still wasn’t sitting up, had difficulty holding her head up and spent most of her time lying on her back. We took her in to see the pediatrician who initially in a moment of shock, at how she had fallen off the growth charts and not attained many developmental milestones, diagnosed her with cerebral palsy.
Thus began the medical odyssey of countless visits to various neurologists. Many would look at her small head size and tell us that she was mentally retarded and to take her home and enroll her in physical and occupational therapy. Others saw her inquisitive nature, though were stumped by her mutism. At times Maia would have these incredible breakthroughs, such as the time, a neurologist asked her to point to the eyes on a doll. The eyes were smaller than the head of a pin. We all sat back and didn’t expect much, when Maia, then age 2, confidently pointed to both small black dots and smiled. At age four, she had a muscle biopsy which confirmed her underlying diagnosis of muscular dystrophy.
It has been an uphill struggle since those early suspicions. Sadness was the primary emotion which needed to be held in check by Maia’s innate sweet disposition. She would look at you quizzically and wonder why tears were streaming down your face. Depression supplanted sadness as you wondered why you were given this challenge when some of the parents at the park that day seemed to hardly care or interact with their children. Each day seemed like another moment of survival. Only the essential items on the “to do” list were accomplished. Birthdays were particularly difficult, as the difference between what Maia could do and her age matched peers could do, became painfully obvious.
Maia is now ten years old. So much has happened in that time period. She has mastered the ability to read simple sentences and has improved her communication skills through the use of sign language and a talking computer, or dynavox. She is still the bossiest and sweetest mute person we know. She is in a regular second grade class with a full time assistant who helps adapt the school work to a level where Maia can participate. Maia has severe learning disabilities and is impeded by her inability to communicate fluently, but her receptive understanding remains high. We have built a supportive community through her school, her aide, family and friends.
The experts at the University of Iowa Neuromuscular center isolated the mutated enzyme in Maia which allowed Maia’s aunt to receive pre-natal diagnostic testing so that her own child would be healthy. Funding and research is now being directed toward CMD through the University of Iowa. Some experimental drugs are being tested on patients with Duchenne, which might apply to Maia’s disease.
Even though Maia doesn’t “talk”, is mentally delayed, can’t balance herself properly and in essence needs assistance with every aspect of daily living, her spirit remains undaunted! She is giggly, warm and giving! There may not be a final cure but depression has now given way to hope that people born with muscular dystrophy can live ordinary lives with mild assistance. Thanks for listening and please follow the various links to help Maia and other people with CMD and LGMD.