Weeks later, she was diagnosed with an eye condition known as strabismus. And, as time went on, her parents noticed she wasn’t reaching the milestones most babies reach in their first year, from sitting up to reaching for toys. Worse still for the parents, there was no immediate answer as to why. What was clear was that Parker was not developing the way most children do.
So, with their doctors’ guidance, they started intervention early. Their medical team quickly grew to include Parker’s pediatrician, neurologists, geneticists, ophthalmologists, orthopedists, audiologists and cardiologists as well as physical therapists, occupational therapists, speech and language therapists, developmental therapists and even aqua therapists. Visits to these professionals became part of their daily routine.
But it took months of waiting for genetic testing to reveal any insight. Finally, after 14 months of uncertainty, the Greenbergs received lab results indicating that Parker had a rare genetic disorder—one of six documented cases in the world at the time. Not 10 months later, they received another diagnosis: Parker fit the profile of a new disorder, this one discovered only in 2017. Today, she is one of 40-50 documented cases worldwide.