Our story

I was looking back through the blog and realized that I just kinda jumped in to writing about Reagan and Rett Syndrome without providing much history.  Here is our story of how we came to Reagan's diagnosis:

Reagan was born a happy and healthy baby on February 24, 2008.  She was always smiling and was such an easy baby.  She hit her milestones within normal range for the first 10 months, but it was always on the later side of the range.  It was around 10 months that we started to notice that she was not hitting her milestones as quickly but mostly that she seemed to have no interest in stacking objects or putting things in and taking them out.   We voiced our concerns to her Pediatrician at her 12 month baby well-check but we were told not to worry, all babies develop differently.

We spoke to a new Pediatrician at her 15 month baby well-check visit because she had only just begun taking steps to walk.  She asked us if Reagan could follow simple one-step instructions, make hand gestures like waving, say words (she lost the only 3 or 4 words she had at 14 months), or mimic behaviors.  All of these answers were a "no" and we then realized that there was a big problem.  We immediately contacted Early Childhood Intervention and she began receiving services for Speech, Occupational and Physical Therapy and has continued since.  

Over the next 7 months we visited both a Pediatric Neurologist and Geneticist in search of an answer.  Three days before Christmas in 2009 the Geneticist drew blood to run a series of test ranging from an intolerance of foods to thyroid issues to Angelmans Syndrome.  We were even more stressed about finding an answer as soon as possible because I was pregnant with our second daughter and due in January.  We were concerned of a possible hereditary issue.  I received the phone call on a Friday afternoon, it was January 15th, that Reagan's results were positive for the MECP2 mutation and has Rett Syndrome.  The news was devastating for our family as we read online how it would change our daughter’s life forever, that our dreams for her future were not going to be realized.  But, it did not take us long to realize that she is the same precious, beautiful little girl that she has always been.