Getting the News

On December 3 of 2015, our lives changed forever.  I received a life changing phone call from our genetics doctor… our biggest fear had just become our reality.  We learned that day that our precious 10 month old baby has a very rare genetic disorder.  We were told that she may never speak, never walk and may have severe intellectual disabilities.  It was a shocking phone call to say the least.  Once the immediate shock wore off, I did what anyone these days would do, I searched the web.  Boy was that a big mistake!  The horrible stories, statistics and pictures I was seeing made me feel so helpless and hopeless.

Needless to say, it took me and my husband awhile to grasp the concept.  In fact, one year later we are still working on this.

After finding some other families dealing with the same disorder, I became Audrey’s number one advocate.

She recieves 5 therapies weekly.  Occupational therapy, speech therapy, physical therapy, child development intervention and feeding therapy.  Although it has been a very hard year, Audrey slowly but surely progresses.

We have an amazing opportunity happening next week which is why I started this blog. My mom, Audrey and I will be going to participate in a study being done at Virginia Tech for 3 weeks.  She will receive intense therapy there for 4 hours each day.  We are so excited and fortunate to be able to take part in this   I hope to blog our trip as we go!

Author: Rachel Alves

Hi there! I am a special needs mom to a beautiful, sweet girl. Audrey has a mutation on her CASK Gene. This is a rare genetic disorder that effects her globally. It has caused a seizure disorder as well as gross motor, fine motor and speech delays. A Microcephaly diagnosis comes along with it as well. Our last 8 years have been filled with therapy, learning about our daughter's disorder and also learning to cope while finding joy. Thank you for taking the time to read about our journey. For more information on the CASK Gene, please visit my Instagram @alvesmomkickingCASK. View all posts by Rachel Alves