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.

 

Today is the first day

      "Yesterday's the past, tomorrow's the future but today is a gift.  That's why it's called the present."
                                                                                         - Bil Keane


     Today.  It's been a very good day by just about anyone's standards.  My family woke up and got ready for my daughter's birthday party at the local movie theatre.  Breakfast was eaten, teeth were brushed, warm coats and gloves were donned.  Off we went to the movies, cupcakes in tow.  We watched the movie with my daughter's friends, had pizza and cupcakes afterwards in the party room and opened presents. 

     If it was only that simple. But my family is not a simple family. That little girl having a birthday party can't speak.  She can't walk down stairs alone.  She needs constant supervision and care.  My daughter, Kelly, has an ultra rare genetic disorder.  PACS1. 

      Before I continue, let me introduce you quickly to my family.  There is my husband, Lief, myself and my two beautiful little girls, Sabrina and Kelly, 11 year old twins!  We have a dog named Eric and a hamster named Brady.  Pretty typical family.  And that is my goal.  To have a happy, simple life.  To raise our children, give them a good education, and a high level of self esteem.   Of course, there is much more to tell about my family and that is what I hope to share with you.  I hope to share our daily lives, with the all the silliness, craziness and difficulties that we face each day.  I hope that as you follow our journey through each day, you get a feeling for a happy family.

     So back to the party.  Kelly had invited four friends.  I selected two friends from her class that I thought would be comfortable with strangers outside of her classroom.  Two little boys that have always shown smiles and hugs to me when I would drop Kelly off at school.  Plus two other girls, handicapped girls, whom we've met through having an inaccurate diagnosis for Kelly for over 6 years.  (That's a story for another day.)   A couple of the children attending could say a word or two, a couple would be in wheelchairs, my daughter included.  All parents were required to stay.  We went to a sensory movie show, that would have less previews, brighter lights and lower sound.  Children attending may yell, cry or dance.  Noise would not be hushed and no dirty looks would be given.  All went well during the movie.  SpongeBob was well received by children and adults alike.

     There were no party games, there were no blowing out of candles as Kelly can't blow.  We did sing happy birthday and gave out goody bags, carefully chosen so the items inside would not be dangerous to those children attending, ages 10 through 18.  The party was calm and pleasant,  those who could eat had pizza.  Two children attending had feeding tubes, but most could eat by mouth. One child fell asleep but that was ok. ( I was actually kind of jealous!) 

     Today.  There were no seizures, no meltdowns, no calls to 911!  No one had a tantrum, no one had major behavioral issues.   It had been a good day by a special needs family standards. 

     It may have been my daughter's birthday party, but today was a gift given to me!