Westynn was our first miracle baby born on January 9th 2016 after years of praying and fertility medication. (Her sister Harrow entered 2.5 years later) Westynn's entrance to life was a rough one, but after quite a bit of panic and distress she finally emerged and soon after recovered from the traumatic experience. She was a perfect baby, calm, quiet, slept soundly.
The first thing we noticed was her eyes, they seemed to always be crossed, but her pediatrician assured us it was normal for infants and that they would eventually straighten. At 6 months old she was meeting zero milestones, and that is when the real concern started to set in. We started seeing a team of specialists at 7 months old including a developmental pediatrician, physical therapist, occupational therapist, speech therapist, neurologist, and geneticist. We did MRIs, blood work, more blood work, and more blood work. Nobody seemed to have any answers. Her symptoms mimicked cerebral palsy, but there were no findings to confirm that on any of her MRIs, all the genetic testing came back normal. We were unable to get approved for whole exome sequencing even after appealing the decision. We were at a standstill.
She was always making forward progress, albeit very slowly, but forward none the less. She had double strabismus surgery at 1.5 years old, began sitting up unsupported at 1.5 years old, diagnosed with autism at 2 years, crawling at 2 years, taking steps with her tiny gait trainer at 2.5 years and walking independently at 5 years. She is nonverbal to this day, but is learning sign language rapidly! After a couple years with no forward movement in our search for a diagnosis we started taking things into our own hands. I found a few different research groups looking for eligible patients to have whole exome sequencing done and promptly enrolled her. We got our answer exactly 1 year later, CTNNB1 Syndrome! Nobody on her team had ever heard of it, but thankfully the day we got her diagnosis I found the parents Facebook group, which has been my go-to for insight and companionship ever since. We have great days, and we have hard days, but we take everything one minute at a time and trust the Lord for guidance in each situation. And we thrive!