Thursday, February 4, 2010

"Eye" had a long day

What a day! Today we met Dr. Drack in Iowa City.  She is a pediatric eye specialist that we were referred to for Ethan's eye problems.  We were there from 8:30 am to 1:30 pm...whew!  Ethan was such a little trooper.  He cooperated with every eye exam and test that they wanted to do...including many pictures that were taken of the inside of his eyes.  As you can imagine, this involved having to sit very still and to look straight forward into a little blinking light.  They were all very amazed at how well Ethan cooperated with each and every test.  We are very proud of him!  This is going to be a long, detailed blog entry of what we found out today.  We apologize if this bores some, but this is the best/easiest way for us to communicate to all of our family and friends.
Let's start with a picture of some eye anatomy...I was wishing I'd brushed up on this BEFORE going to the appointment today.

Ok, now you'll have a picture to refer to.  To refresh your memory, we made the trek to Iowa City today on a recommendation from the local eye specialist we've been seeing since Ethan was 6 months old.  At Ethan's last exam she noted that his eye crossing was markedly worse.  There has also always been the underlying question of whether or not Ethan may have ocular albinism.  We essentially found out 3 things today.  So, from most simplistic to most complex:

1. Ethan is mildly farsighted.  This means he has trouble seeing things that are close up.  Dr. Drack believes this is causing his crossed eyes.  When he is trying to look at things close up, his eyes are crossing in because they are trying to focus on the object.  The plan: try glasses with him.  She is not recommending any surgery at this time.  If the glasses correct his farsightedness, it is possible that it will also correct his eyes crossing.  Of course, there is the possibility that this isn't the root cause of the eye crossing, and we will have spent money on glasses for nothing.  Overall, it is the most affordable, non-invasive thing to try.  We picked out some cute little frames for him today that appear to be highly DURABLE and should have them next week sometime.  My biggest fear is that Aidan will think he needs some too! :)

2. Ethan has Optic Nerve Hypoplasia (his optic nerve is smaller than it should be).  The optic nerve carries "messages" from your eye, to your brain (in a fraction of a second) which then converts that message into the image that you see.  AMAZING!!!  You can see in the picture above, the optic nerve enters the back of the eye.  The opening in the back of the eye is the EXACT SIZE of the nerve that goes into it.  They took pictures of Ethan's optic nerve today.  His looks like a pink circle, with a white ring around it.  There should not be a white ring there.  The pink circle (optic nerve) should fill the entire space.  The white ring indicates that his optic nerve is not filling the entire hole it is going in to.  Optic nerves exit the back of the eye, cross over each other, and then enter the brain.  Right on top of where they cross, sits the pituitary gland.  The concern of optic nerve hypoplasia is that since the optic nerve is small/underdeveloped, there is a chance that the pituitary gland is too.  The pituitary gland regulates all of the hormones in your body.  For quite some time our pediatrican has been worried about Ethan's growth rate.  His weight does not even register on the growth charts, and his height in about the 8th percentile.  The could corrilate with everything we found today.  The plan: go back to Iowa City, have Ethan placed under general anesthesia and obtain a MRI of his brain and pituitary gland.  If this would come back abnormal, we would then be referred on to a pediatric endocrinologist to assess Ethan's hormone levels.  We don't have a date yet for the MRI, Iowa City will be contacting us with that date.

3. Ethan MAY have ocular albinism.  As we all know from looking at Ethan, he is a fair skinned, blonde haired little boy.  And when doctors do a dilated exam of his eyes, they describe the backs of his eyes as being very "blonde", or containing very little pigment.  So, the ocular albinism has always been a possible diagnosis.  Albinism is a genetic disorder that is a recessive gene.  Adam and I have no knowledge of anyone in our families having albinism.  Family members, if you are aware of anyone in our lineage having albinism, please let us know!  Ok, get ready to look at the picture again.  Most people with albinism do not have a macula (part of the retina that allows you to view objects with great detail).  Ethan does have a macula, but its not shaped completely normal.  Ethan does not have a fovea (a depression in the macula that provides acute eyesite).  His retina is not completely without pigment.  We learned today that people can have different degrees of albinism and that there are many types of albinism.  Some people have near normal vision, while others are legally blind.  Some can get driver's license, while others can not.  The eye crossing that Ethan has can be a complication of albinism.   The plan: there are blood tests to check for albinism.  Dr. Drack tells us that this can be a long process to sort out as you might check for one type of albinism and have it come back negative, so you need to move on and check for the next type.  Ethan had his blood drawn today to check for type OA2, the type Dr. Drack thinks he would most likely have.  The blood is sent to a lab in Boston and will take 4-6 weeks before we have results on that test.

Wow, we walked out of there today saying "I thought his eyes were crossed?"  We sorta feel like we just uncovered the tip of an iceberg today.  We were very impressed with Dr. Drack.  She was very knowledgeable and quick on her feet when coming up with diagnoses.  For a couple hours it seemed the diagnoses were changing with every test that was performed.  We feel very confident that we are at the right place to get things sorted out.  We will go back to see Dr. Drack in 3 months.  In the meantime, we will try the glasses with Ethan and pray that is the answer to his crossed eyes.  Once Dr. Drack has the results of the MRI and genetic tests, she will be contacting us by phone.  Please say prayers for Ethan that everything turns out good.

So, you ask, where was Aidan in all of this?  We made the decision to leave him at home with Marie, Nana, Grammy, and Chrissy watching him (no, it did not take all 4 of them at once to watch 1 child...just 4 people to get all of the hours covered!).  It was such a long day for Ethan that we are confident that was the right decision.  We are told that Aidan would ask about Ethan and then say "EYES!"  Aidan was a very, very good  boy for everyone.  We will need to make plans for Aidan to get to have a special day away with Mommy and Daddy.

With that, I think everyone in this house can say "eye" have had a long day!  Thanks for everyone's thoughts and prayers for us so far...keep 'em coming!