Wednesday, March 11, 2015

What I hate the most about spring!!!

"I must govern the clock, not be governed by it."  -  Golda Meir

      I know, I know.  Everyone is looking forward to spring.  The warm breeze, the sunlight, the daffodils breaking through the icy ground, inspiring us by how they can survive the winter.  The kids are finally getting to go outside to play, running around, getting rid of all that pent up energy.  I agree, I'm all for it.  I can't take another snow day.  I'm all for letting the kids play outside instead of being cooped up.  I'm going a little stir crazy too.  I don't think I can continue looking at my beautiful, adorable children, surrounded by video games, books and toys, all the while they are whining, "mommy, we're bored!".

    But then it hits you, just as we are all counting down the number of days until the first day of spring, just as everyone starts to joke about March coming in like a lion and going out like a lamb, you hear it. Those four cute words that will rock your world.  Spring Forward, Fall Back.  Those few words that not only will turn your world upside down, but also that of your special needs child. 

    The idea can be quite comical.  In what other country do we think we can add on to the day, by turning the clock back?  It's still the same 24 hours we had before.  Well, technically only 23 hours for one day in March and 25 hours one day in November.  We have such a superior attitude in our control of time that we even changed the day from October to November to give the kiddoes more "day" for trick or treating, but I digress.

     One of the most important parts of being able to survive in the special needs world is sleep.  Sleep for you and sleep for your child.  An entire night's sleep is seldom if ever seen, but if you are one of the lucky ones, you may get a few hours together.  The only way to survive the endless doctor appointments, the constant fights with the insurance company, the being there for your child's every second of every day (except for those disappearing 86,400 seconds in March), as well as being supermom to your other children and that wonder woman to your husband (or significant other) is the ability to sleep through the night.  The government, in all mighty wisdom, has come into our bedrooms and shaken up our routine.  And the one thing you never do to a special needs child is mess with their routine.  

     You try waking up a special needs cutie in the dark and tell her she has to get up to go to school.  Even our typical kiddos want no part of that.  Then, let's add in we are putting them to bed in the day light.  Their response, party in the bedroom, party in the night, party all the time, until they pass out only a few hours before you get to wake them up again. 

     Yes, I am looking forward to spring, waking up to the sunshine and birds singing in the trees. But for now, I'm just trying to get used to a new time frame, a new normal.  Excuse me, while I grab my robe in the dark, trip over the dog to get to the kids, all while looking forward to the second most important part of being able to survive in the special needs world, that first cup of coffee, which for me, shines brighter than any sunrise ever could.


Sunday, February 22, 2015

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.


Sunday, February 15, 2015

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!