A mutation in the GNAO1 gene.
Mira was diagnosed with a mutation in the GNAO1 gene on February 15, 2017, at the age of 16 months. At the time, she was one of only roughly 50 known cases in the world. Mira was born perfectly healthy and on time and had absolutely no health issues or concerning behavior for the first few months of her life. She stopped meeting milestones at four months of age and we began to worry. After an entire year of exhaustive testing and guess after guess about what could be causing her increasingly pronounced delays, we finally arrived at our diagnosis through whole exome sequencing offered through the genetics clinic at Children’s Mercy Hospital. Mira’s diagnosis is so rare and newly discovered that many unanswered questions remain about her future. She experiences a progressive movement disorder, is nonverbal and non-ambulatory, and has extremely low muscle tone. Essentially, her GNAO1 diagnosis manifests in choreoathetoid cerebral palsy, though she does not meet the classical definition of cerebral palsy, as her brain is not structurally damaged and her disease will progress.
We have let go of explicit hopes such as Mira being able to walk and talk one day and now focus on how grateful we are for her health, her happiness, and the amazing love and support she receives from all who are involved in her life. We are hopeful that we can serve as a resource for other families in similar situations and that we can be trailblazers on this rare disease road.
The uncertainty of her disease progression and questions about her future are terrifying, but due to the wraparound care and support we’ve received from clinicians, staff, and other families at Children’s Mercy, we remain hopeful that Mira’s team will rise to meet all of her challenges and provide her the best possible care.
