My side of eyesight

In the beginning....

On a stupid-hot August morning (I think the temperature actually was one hundred stupidity degrees) I gave birth to my 1st little boy.  Everybody was excited, thrilled, grandpa Jim even passed out and had a bloody nose! It was wonderful.  Then...we all noticed in the days following his birth, his eyes were moving and moving fast.  Odd, but heck we never had babies before so I didn't know what to think.  At the first check up, and essentially all the next gazillion checkups for the first four months, we asked the doc.  "Man, this just isn't normal, whats up with his eyes".  For which we recieved the same answer time and time again, his muscles are developing and they just aren't strong enough.  He will outgrow it, Im sure of it.  By about 4 months, I said look, I see all these other 4-month old children running around (clearly 4 month olds don't run anywhere and I based this statistic off of 2 other children I had seen at Dillons earlier that week) and their eyes are just fine.  You need to send him to an eye specialist.  And so he did......

You said WHAT??
The very next day we had an appointment with one of the local optometrists.  Getting Mason all gussied up and just really ready to receive the same schpill we always got, his muscles are just weak and he is fine, stop worrying, your new parents.  Ummm no.  It didn't really go like that at all.  First off, he had the bed-side manors of a goat.  (Clearly I would have liked him more if he walked on all fours and was eating grass).  And he handled Mason like he was an atomic bomb that was going to explode at any moment, clearly not comfortable with children at all.  Then followed the two words, I have yet to free my mind of, "He's blind".  Before I could decide whether I was going to punch him, puke on his smelly goat loafers, or throw some sort of medical equipment at him, he was shoving Mason back in my arms and left the room!  It was hands-down the most astonishing thing I have ever encountered as a parent.  Then the nurse comes and and says, well I think thats all we need from ya, just check out at the front desk.  To which I screamed, "Oh Yeah....well your clothes are ugly" and stormed out of the room.  Clearly shock had set in.

Big Fat Blur....
The following weeks are a little foggy as I walked around in my state of shock.  Not only was I a new mom, but a new mom to a blind child.  Ugh, what had I gotten myself into!  Of course, I was not okay with the diagnosis Dr. Goat had given us, so I had to get a third opinion.  Obviously someone who could physicially hold my child and didn't have an "I hate children" bumper sticker on his car.  We were referred to Childrens Mercy Hospital in Kansas City.  But of course we had to wait two weeks before being seen. For two entire weeks, I lived, dreamed, obessed and ate the word blind.  I hated that word, it made my stomach hurt.  I think this was around the time someone should have diagnosed me with Tourrette's, as I went completely bat-shit crazy and was just plain obscene.  One evening I had to get out, so I went and did some grocery shopping.  I walked around Dillon's tossing this and that in the cart, not really following any list other than the pretty packages.  Upon checking out, the bagger asked if I wanted paper or plastic.  Apparently he had asked me this several times as by the time I heard him, he was practically screaming it and everybody was oogling.  I barked BLIND, MY KID'S BLIND.  Umm excuse me maam, he calmly repeated, this time he was fully aware that I was a ticking time bomb, I just need to know what to put your groceries in, paper or plastic.  To this I retorted, "My son is blind, do you think I give two shits about what you wrap my groceries in?".   Of note, I did go back and apologize to this poor boy a few months later.  When I got home with my sacks of groceries, I was mentally spent.  As my husband unloads all the sacks, he looks at me, Umm honey, what are we going to eat for supper?  What do you mean, I just spent 65 dollars at Dillons, eat something.  It was at this point, I realized I had gotten 5 different gallons of ice cream, 2 bottles of Hershey syrup and a plethera of assorted peanuts and sprinkles.  Sigh...it was official, I was bat-shit crazy.  

Medical Mumbo Jumbo-

This doctor at least had a brain and some couthe.  After dilating my 5 month olds eyes and waiting for 30 minutes, we were finally given the diagnoses that has claimed all three of our children.  Oculocutaneous Albinism.  Oculo=eye, Cutaneous=Skin and Albinism=little or no pigment (color) in your hair, skin and eyes.  OCA1 (which is the form of albinism my children have) is inherited in an autosomal recessive maner.  Which means two copies of a gene mutation (any alteration in a gene from its natural state) must be passed down to the child, one from each parent.  We are called obligate heterozygotes (translates into perfectly asymptomatic people with screwed up genes that we passed down to our children). The odds of this happening to you is 1 in 17-20,000.  The chances of Masons siblings being  affected are 25% chance, 50% chance of being asymptomatic carriers and a 25% chance of being unaffected and not carriers.  However, we beat the odds, and all three of them are symptomatic carries.  Mason is OCA1B and Bryson and Jaxson are OCA1A. .....AND....Here was the beginning of life as we know it.