What's in a Name?

      "A rose by any other name would smell as sweet."  - William Shakespeare

     Global developmental delays was the first.  Next was PPD-NOS, pervasive developmental disorder-not otherwise specified.   Then, there was the one I thought she'd have forever, Rett Syndrome.  However, through some unexpected discoveries, Kelly has currently been diagnosed with PACS1 syndrome.  But that isn't truly correct either.  Technically, medical coding for insurance purposes indicates Kelly has an "other genetic disorder".  The gene, PACS1, being only newly discovered, information regarding any type of syndrome it causes is still being gathered and it hasn't been officially recognized as a syndrome, yet.

     The previous paragraph describes Kelly's journey from birth to 11 years old, trying to determine what is the cause of her obvious disabilities.  Unfortunately, it is a very similar journey for many people looking for answers, with many more not ever getting a "name".
 
     So why look for a name?  I've been asked this before.  Why do I care what they call it, as long as I take care of her and get her the therapies and education that best suits her?  For so many reasons. 

    First, it would be a terrible disservice to my child if I didn't try everything I could to find out why she has so many disabilities.  What if there was a way to improve her daily life and I took the path of least resistance?  I'm not talking cure.  I truly don't focus on that.  But in looking for answers, not only is there a sense of hope, there is a feeling of helping in a situation which I am completely helpless.  Sometimes there are new ideas and new therapies that will help Kelly just get through the day. Or that just help me get through the day.

    Second, it helps others.  Really, it does.  One year ago, we were told Kelly did not have Rett Syndrome, after being diagnosed with it for 6 1/2 years.  That was hard to fathom.  In brief, blood work was done wrong.  A genetic mutation we thought she had, she didn't.  So the search for another name began anew.  But the world was not in the same place where we had started.  There had been much more advancements in medical and genetic testing, available, though costly, then before.  Leading us to PACS1.  Kelly was the 17th child in the world to have this confirmed genetic mutation. Now there are at least 19 PACS1 kids, ages 3 through 22.  Through reaching out on social media and the internet, I was able to connect with those other families online.  We can support each other, ask questions, compare notes on what works and what doesn't work, all in an effort to improve the life of our children and ourselves. 

   Third, it helps me.  It gives me a place to focus my efforts, whether spreading awareness, sharing stories, educating doctors and nurses or fundraising.  Not only does Kelly fit in, so does mommy.

   So we again have a "name".  We again have an extended family.  (Though I will never let go of my Rett family.)  Many people, adults and children, are never given that "name".  We've been graced with it more than once, for good or bad, for better or worse.  We are forever connected.