We welcomed Aubrey, our second beautiful daughter, into our family in May 2006. After an uneventful pregnancy and delivery, Aubrey spent her first 2 days in the NICU due to a couple “dusky spells” the nurse noticed. However, when blood work came back unremarkable and no other instances occurred, she came home with us. After about a week at home, we felt that something just wasn’t right. When we took her to our pediatrician, she commented that Aubrey seemed “floppy.”
What followed in the next few months was a whirlwind of doctors and hospitals. We saw a Developmental Pediatrician, a Geneticist, and a Neurologist; underwent procedures that included a head ultrasound, a brain MRI and a heart scan, and had countless blood draws…..all to try to determine why our little baby girl was so hypotonic. The doctors that we were seeing threw out several unconfirmed misdiagnoses to us, one suggesting that Aubrey would be profoundly retarded, and another that she would most likely not live past the age of 2. Every time we were given a diagnosis, we would research it, try to come to terms with it, then have it ruled out by the latest test they put Aubrey through. It was easily the worst time in our lives. Finally, when Aubrey was about 5 months old, a muscle biopsy confirmed the diagnosis of Merosin Deficient Congenital Muscular Dystrophy.
Although there was certainly some relief in finally knowing what was going on with our baby girl, it was a hard diagnosis to hear. To learn that she would never crawl, stand, or walk on her own was devastating. We had to grieve the death of many of the hopes and dreams we had for her. Aubrey would never run up and down the playground equipment, she would never chase her sister through the yard, never go to her friend’s house to spend the night, never dance with her dad on her wedding day.
Aubrey’s disability already creates some difficulties. Because of her increased risk of pneumonia and other chest infections, our house gets pretty terrified of the common cold. Simple errands take a bit more planning than tossing your average toddler into the car and having her walk when you get to your destination. When we get together with friends, we worry that Aubrey will be left out while the other kids are running around together. Bathing, eating, dressing, and even sitting at a coloring table all require some modifications. If she wants a toy more than a couple of feet away, somebody has to bring it to her. In typical toddler fashion, Aubrey wants to do everything by herself, but isn’t able to. Undoubtedly, it will become more difficult for us to help Aubrey physically as she gets older and heavier.
We have been very fortunate to connect with some families with children with the same diagnosis. They have easily taught us more about Aubrey’s disease than any doctor we have met, and have given us some idea of what to expect. Because there is not a lot of information about MDCMD, we’re learning a lot as we go. We have an occupational therapist and physical therapist come to our house for therapy once a week. For now, Aubrey is able to stand in a stander with lots of support and is learning to drive a power wheelchair.
Aubrey is a fun, sweet, and extremely intelligent little girl; normal in every way but her physical abilities. She was talking in 4 and 5 word sentences by the time she was 2, is very stubborn, and certainly holds her own with her sisters. Aubrey loves singing and laughing, Disney Princesses, and talking on the phone. At this age, she is just beginning to become aware of her disability. When the children all stand up to sing songs at library story time, she whispers, “Mommy, I wanna stand.” For now, she seems content that I stand up with her in my arms. However, we know that someday she will ask more about her disease, and probably wonder why this challenge has been given to her…..a question that is hard enough for us to answer ourselves. However, we live every day with the optimism that the doctors and scientists will find a treatment for her disease. That hope keeps us positive about her future.