Saturday, June 15, 2013

And the winner is....

We were living in Ohio.  I had a very precocious three year old that was keeping me busy.  I was pregnant, living 16 hours away from my family, trying to prepare for our son to arrive.  The doctor wanted me to count movements.  I don't remember the specifics, but it seems like they wanted, at the bare minimum, 75 movements per day from the baby.  I would get around 15-20, and only if I would push on him and he would push back.  I remember telling my mom that I wouldn't be surprised if something was wrong with this one.  She would admonish me by saying, "Don't say that!"  But, I was always uneasy about the lack of movements.  When I told my doctor my concern, their reply was, "He is in a transverse lie!  It's a positional problem-he doesn't have the room to move!"  When I would ask why his head was measuring three weeks behind his body during ultrasounds, they would say, "You worry too much!  He's fine!"  Followed by, "Your husband has a small head circumference-he just takes after him!"  Everyone tried hard to make me feel better.  But there was always that raisin of worry in the deepest pit of my gut.  I embroidered a sampler for him, and the pattern had a baby on it with its' eyes shut.  That always bothered me.  I didn't even like the fact it was like that while I was making it.

Fast forward to his birth, or the way we like to look back at it, as the "day when all hell broke loose."  I had contractions around 4 am that morning.  At 7 am, I knew they weren't Braxton-Hicks...they were getting closer together and stronger.  I called my angel friend Sharon, and set off for the half hour drive to her house, to drop off Riley with her.  After bringing her into the house, I went back into my car, where my water broke all over the seat.  And it was green.  Meconium.....ugh.  I went back in the house, and being a nurse, she knew we had to get me in to the hospital right away.  The transverse lie, the meconium, none of it was a great situation.  She insisted on driving me, and I sat in the front of her van with my feet up on the dashboard, and they met us outside the hospital.  We went in to be prepped for the C-section, and waited.  My doctor was in training, and was convinced my water really hadn't broken.  He was also not convinced it was green.  My nurse friend conveyed to them, very clearly, that it was, in fact, my water, and it was, in fact, green.

Finally, the time came for the section.  Even though his head was up in the right side of my ribs, I was having steady, painful contractions, that made the spinal placement less than fun.  I remember the feeling of them trying to get his head un-suctioned from the upper right quadrant of my uterus.  They said they had to put their fingers in his mouth and pull down on his jaw to get the suction to break.  Howard held him up to show me, and my first words were, "Get him to the NICU."  They all said, "Don't you want to see him?  Hold him?"  I said, "He's white as a sheet-get him out of here."

They did, and he spent the next week in the NICU, not eating, with nosebleeds, microcephaly, hypospadias with chordee, having his hands fisted shut tightly, and just looking....well....off.  One of Howard's anesthesia buddies came in to see him, and he walks up to the isolette, and says, "What's wrong with him?"  It was like being hit with a brick!  I was like, why are you asking that?  He said, "Was he overdue, or what?  He looks odd."  It was painful, but spot-on accurate.  He was, as my husband refers to it, an "FLK"--"funny looking kid."  He didn't look like either of our baby pictures, and he didn't resemble his sister.  He did, however, have her eyes...and his dad's eyes.

Although we had a lot of symptoms, we did not find a lot of answers.  The Ohio docs thought mitochondrial disease.  The Nebraska docs thought a syndrome.  All along the way, were interesting stabs in the dark.  Smith-Lemli-Opitz, PKU, Rett syndrome variant for boys, Angelman's, Prader-Willi, mtDNA disorder, novel DNA disorder, etc.  They thought of new things to test all the time.  Nothing.  Ever.  Hit.

Fast forward fifteen years.  Apparently, moving to a very remote, "non-doctorly" spot, has left us kind of in the dark as far as medical advances go.  Genetics took quite a few leaps and bounds while we were watching Mas grow.  There was a new test, one that had been out quite a few years, that we had missed.  A CGH Microarray.  Which is very fancy talk for a more detailed genetic workup.  The explanation given to me, said that the first testing he had was like having two huge encylopedias sitting in front of you.  The doctor would think of some paragraph in there to test for.  They would draw blood and test for that exact problem.  If it didn't hit, they were back to the drawing board.  The CGH Microarray?  Is like finding a sentence that is written incorrectly....in two encylopedias worth of words. The test that will be out in a few years?   Will be able to find ONE LETTER that is wrong in those two encylopedias.  Wow.

So, we went about twenty rounds with our insurance company...(that fight is worth a more detailed explanation...another day....) and had the blood test for the CGH Microarray drawn last week.  Two to six weeks from now, we will, hopefully, have some sort of answer.  Maybe.  If there is anything genetically wrong that will be kind enough to show up.  There is a quirky little variant where almost every syndrome has a less than 1% chance of being present, even if it doesn't show up in the genetic workup.  But, I am hoping we get a home run, and something hits.

These are heady times, my friends.  Imagine knowing someone, right now, is spinning/testing/evaluating Mason's blood....and looking for some sort of answer to what is going on with him.  For what has been plaguing him for the past fifteen years.  It is hard to concentrate on the little things right now.  This is Big.  It could change the course of our family.  Could even make his life a bit easier.  Could give us a cause to get behind....a website to direct people to....a t-shirt to wear.  Big.

So, that's where we are today.  Waiting.  Listening to the seconds tick by....hoping the people handling the blood are good at what they do.  Meticulously so.  Hoping we get a hit.