Wednesday, July 17, 2013

Sometime's nothing's a real cool hand....

Well, the results are in....and the winner one?

Our genetic testing we fought so hard for and waited six weeks for?  Normal.  A R G H.  I can't say we were necessarily surprised, but we were disappointed.  Howard reminded me we are probably the only two people in the world who have ever been upset to have normal genetic test results.  I had to agree!  And laugh!

The good news to this is....well, interesting.  While they couldn't find anything on his CGH Microarray, they did offer us a cool and unique opportunity.

Dr. Hoyme, the geneticist working with our family, obtained a research grant that allows him to enroll six undiagnosed children in a study.  The study involves drawing his blood, my blood, and Howard's blood, and doing a small-scale version of a whole-exome sequencing on Mason's blood.  (The full version of this test normally costs around $9,000.)  If the small scale version returns nothing, it sounds like the next step would be the whole-exome sequencing.

The coolest part?  Dr. Hoyme can select 6 kids for this study....and Mas is now #4!

We are headed in to do a bunch of paperwork and some bloodwork, but as of right now, it at least looks like there is a new direction to head...which is wonderful!

So, although the original test we had pinned all our hopes on came up empty, it did lead us down another road....and hopefully this road will continue down a path to some answers.

Tuesday, July 16, 2013

On this thing called vacation....

So, I can report with high accuracy the fact that we have not done such a great job of guarding our time during these special needs family years.  While we always made sure our son's needs were met, we did not make sure our marriage needs were.  Neglect of such things tends to make its' presence known after awhile.  And it did.  Now, we are still pretty bad at doing things as a couple and getting away, but we do make an effort.

While it's a well-known fact amongst 'special' families that a trip to the shower or the walk from your child's car door to your own can feel like a vacation, I like to call a vacation anything where you are far enough from home that you can no longer turn around easily.  That is the point in our trip when I can relax, pull out the cheesy magazines, and become one with my time.  To ensure that we go far enough away for that to happen, once a year, for about ten years now, we go fishing for one week in Canada.

Canada is, well, Canada.  Unbelievable scenery, great wildlife, friendly people, amazing fishing.  We are talking about nice, deep, cold water fishing for walleye, muskies, trout, and smallmouth bass.  While those of you unfamiliar with muskie fishing may think it sounds relaxing, it isn't.  Muskies are called the fish of 10,000 casts for a reason.  They say it takes that many tries to get one.  I used to think that was really funny.  Not so much anymore.  It is a major time investment to see one, let alone catch one.

In our boat, muskie fishing is all business.  Leave the dock around 7 am, fish until dark.  Eat/drink/rest/pee on the boat kind of fishing.  We take it seriously.  We have fun, too, but this isn't the crack open a beer and put your feet up kind of bobber fishing that most people think of.  This is flogging huge, heavy lures, towards any visible or not visible structure that might hold a muskie.  Generally the weather can be anything from four foot rollers and 30 degrees to flat calm and mid 90's.  We chose to go in July this year, so I am expecting more of the 80-90 degree version.

So what about this means vacation, you ask?

Freedom.  The freedom to wake up when you want, eat when you want, eat what you want, take a nap when you want, stay up late if you want, spend your time like you want.  Any special family knows, this doesn't happen very often.  Usually, as a caregiver, your time is spent wondering what your patient needs next.  When you are freed up from doing that, it is heady stuff.

The first day or two of vacation, are the worry days.  You worry about what's happening at home, you worry about them being healthy, you worry you may have forgotten something.  The next 3-4 days are the sliding into happiness days.  You start to feel like your old self again.  You make jokes, you laugh, your face starts to hurt from smiling so much.  The last few days are the reality days.  You realize vacation does not last forever, and yours is about to end, and then it's back to your life.

The reality is, these days happen with alarming scarcity once you have a special needs child.  Even to be able to pack for a trip and not have to worry about their entourage of supplies, is a treat.  To think, you are only packing for YOU, not for your child and every contingency that may arise...that is a great relief.

Guilt comes into this trip, on occasion, but you try your best to push that away.  As a special family, you experience guilt enough...why bring it along on vacation?

The packing, the worry, the driving, the preparation that goes into this one week, is astounding.  We talk about this trip for 51 weeks a year.  We will be planning our trip for next year on the drive home this year.  It is truly a magical week, regardless of the bugs, waves, sun, wind, bad fishing, or any other things that most people would call adversities.

For me?  I can't wait to throw that first cast, when you are full of hope that you are going to see a muskie today....with Zac Brown playing over the boat speakers, sunglasses on hat firmly on, sunscreen applied, and a cooler with our lunch in it, sitting under the casting deck.  Waving to friends, old and new, that we see out on the water....taking pictures of bald eagles as though we won't see hundreds before the week is out.  Breathtaking sunsets and gorgeous trees vying for your attention as you cast hopefully into the deep....spending your time.  Just spending it.  The way you want.  I can't wait.