Elisa has grown to be a happy girl with a bubbly personality. A natural leader, her teachers appreciate that she is determined, eager to interact with her classmates, and has a hearty laugh. In spite of being nonverbal, Elisa has developed an ability to make people around her happy with a smile, a hug, or a giggle. Elisa communicates with her whole body. She may ask a question with a lilting “HUH?” while shrugging her shoulders, her palms open, and just enough of a smirk to make you laugh. Through her life experience, she realizes that bringing people together with her good nature makes everyone’s lives better.
As an infant, she was initially diagnosed with Cerebral Palsy as a means to explain her symptoms. From birth, she had alternating increases and decreases in her muscle tone. It was hard for her to keep her head up, while other muscles were tight. Her milestones of crawling and walking were delayed. The issues with her muscle tone made even chewing and babbling a challenge. She began speech and physical therapy and underwent surgery to lengthen her spastic leg muscles
Though never able to talk and ask questions, she learned to understand the adults around her, learned to respond appropriately, and most importantly how to create a community around her. She uses a communication program on an iPad to express her thoughts and desires. She continues to expand her vocabulary as well as her text messaging savvy. It is our hope that she will catch up with her peers.
New genetic testing was made available and she was found to have a mutation in the protein coding gene. It is this mutation that causes the weakness of some muscles and spasticity or tightness of others. She particularly suffers from spasticity of her legs. There is little known about this mutation other than it may be progressive. We celebrated her ability to walk first with orthotics and a walker and then with orthotics and then without support. There are no known treatments to prevent the spasticity. Our only hope is that by continuing therapy and activities she will maintain her ability to walk. In spite of her challenges, she loves going to playgrounds, to run, to climb and to bike. She loves adventure.