Author: Rachel AlvesPatient or Advocate: Audrey Alves Disease Affiliation: CASK Gene Disorder

Besides a traumatic emergency C Section along with concerning head circumference, all newborn screenings checked out okay. They told us to watch for milestones not being met and sent us on our way.
Feeding was a challenge and keeping her growing became a daily focus.
By 6 months old, I new Audrey wasn’t developing typically.
By 9 months her pediatrician agreed an MRI should be done.
This is where our journey truly began.
Her Microcephaly diagnosis resulted from this MRI, then sent to genetics as a follow up where we got that dreaded call. At 10 months old, Audrey was diagnosed with a rare condition called CASK Gene Mutation. Genetics rattled off all the horrific struggles Audrey may encounter and our world changed forever.
I quit my job once she started early intervention and devoted myself to become her advocate in this rare world. Audrey works hard to do every single thing daily. She is my why, my world and has taught me more than I ever thought possible. #KickingCASK

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