Happy Memorial Day

 

 Happy Memorial Day to everyone.  Hope you are enjoying a nice, long, relaxing weekend!

 We received test results back from IA City on Friday.  Ethan tested positive for Oculocutaneous Albinism type I.  So, what does that mean?  This confirms the diagnosis that Dr. Drack has been suspecting is the cause of his eye problems.  Of course no one wants to be told that their child has a "condition", but at the same time, we are very happy that we finally have an explanation for why his eyes are the way they are.

Albinism is an autosomal recessive disorder.  This means that both Adam and I carry a recessive gene for albinism.  Every child we have has a 1 in 4 chance of having albinism.  Our siblings have a 50% chance of carrying the gene.  One of each of our parents carries this gene as well (that's how it got passed on to us).  We go back to IA City in August for another check up with Dr. Drack. She will talk with us in more detail about albinism at that appointment.  Adam and I will also have our blood drawn to confirm that we are both carriers of the gene.

In the meantime, we've done some of our own research on albinism through Mayo Clinic and NOAH (National Organization for Albinism and Hypo-pigmentation).  Here's a few facts about albinism:

-1 in 17,000 people in the US have some form of albinism

-People with albinism always have problems with vision.  The degree of impairment varies from minor impairment to legally blind.  Most are able to use their vision for common tasks including driving and reading and do not need to use braille.

-People with albinism may lack all pigment in their skin and hair while others have almost normal pigment.  People with albinism are at a higher risk of developing skin cancers (bring on the SPF 80!)

-People with albinism live normal life spans and have the same types of general medical problems as the rest of the population.  Albinos have a normal intellect.

Adam and I had very little knowledge about albinism before all of this (as I'm sure it true with the general population), and we are still in a learning phase.  I think for most people, the word albino carries a negative or demeaning connotation out of lack of understanding of the condition.  I'm sure there will be days in our future where Ethan is teased by some for his condition. I'm just very thankful he has a tough little brother who can stick up for him!

We will keep you updated as we gain more information on this.  In the meantime, we are enjoying our summer!

Crazy Life

I LOVE the new picture I put on our header...it is such a real glimpse of our life.  I also love the quote at the sidebar..."it may be a crazy life, but it's our life"  Some days I try and remember our life, before the crazy days, and honestly, I really can't.  I think that's God's way of protecting you, so you don't totally lose it when you really, really, realize what chaos you live in.  This is what we've been doing the month of May.

  

Aidan and Frank

Ethan and Chuck

Cousins:Ethan, Aidan, Kayla, Connor

 The Rash Family (Connor looks like he's the only one who's really ready for the picture!)

We had another visit to IA City last week with Ethan.  Dr. Drack said the glasses have greatly straightened out Ethan's distance vision, but he is still crossing quite a bit with up close stuff.  So, he is getting bifocals.....he's the only 2 year old I've ever heard of with bifocals!  So, hopefully that helps. He also had his blood drawn again to test for a different type of albinism (OCA type 1).  This one gets sent to Baylor in Texas and again will be 4-6 weeks before we get results.  Dr. Drack said if this one comes back negative (like the last one) then we'll probably wait and retest again in 5 years.  She is still thinking the optic nerve hypoplasia is linked to a form of albinism.  She said whether his optic nerve is 1/2 the size it should be, or a 1/3 of the size it should be is hard to determine at this point.  As he gets older and they can do more extensive tests on his eyes, then we will know more.  We are very thankful that he likes wearing his glasses and has adjusted to them so easily.  We hope the bifocal is as easy of a transition for him.  We will make the trek to IA City again in August for another recheck.

Both boys also had their first dentist visit this month.  Dr. Debbie was wonderful with them and said they both have very beautiful, healthy teeth.  They talk about Dr. Debbie every night when they brush their teeth and have even been playing dentist with each other! 

Finally, we had a family wedding last weekend in Dubuque.  We stayed at the Grand Harbor Hotel and Waterpark.  The boys thought the waterpark was very cool.  Aidan was getting very brave by the end and would want to jump in and not have anyone catch him, and then swim over to the steps and do it all over again.  They are getting so big!

Easter and More!

Good News!

We have 2 good news items to share with everyone....
1. It has finally gotten warm enough that we can be outside!!!!  The boys LOVE the outdoors.  We've had especially warm weather this week.  On April 1 it was 85 degrees and we were wearing SHORTS!  Of course, the temps have returned to being more spring like (50's-60's) but we will take it!

2. We received the results back on Ethan's genetic test.  He tested NEGATIVE for OCA2 (oculocutaneous albinism type 2).  Hooray!  We go back for a recheck with Dr. Drack on May 13.  Ethan has been doing very well with his glasses.  I can't really say that it makes his eyes any less crossed...but you can tell he can definitely see better, he asked to have his glasses on, and he does not really mess with them.  So to us, that's all that really counts.  We'll keep you updated on what we find out in May.

Our friends The Francois Family were down to visit us last weekend.  We had a lot of fun with them.  We had the kids dye Easter eggs.  With a 3 year old, two 2 year olds, and a 1 year old....the egg dying fun was short lived as they don't have much patience to wait for the eggs to sit in the dye.  We still had a great time and can't wait to visit with them again.

Here's a few pictures from our egg dying adventures as well as from our time outdoors this week.  Hope you're all have a very Happy Easter!

You asked for it...

I've had several people requesting new photos, so here you go.  We haven't been real good about taking pictures lately...we'll try and be better!

wearing 4 pairs of daddy's underwear!

 

hooray for spring!

having an outdoor treat...juice box!

anybody home?

going for a ride around the block in daddy's BIG van (rideshare)

Good News!

What good news we have!  First of all, we picked up Ethan's glasses last week Friday.  What a little cutie he is...

 

He has done a GREAT job of keeping his glasses on.  We have told him if he wants to take his glasses off, he needs to come to us and ask for a "break".  He has done exceptionally well with this (except for last night when he took them off and hid them under the couch!) and in fact didn't even ask to take a break at all today!  Woo Hoo!

And Aidan has been such a little trooper through this.  He is very proud to show off Ethan's glasses and to point out other people who wear glasses.  He did have a little melt down this evening, but there has been a lot of attention on Ethan this entire month, so I think the poor little boy is probably allowed a melt down.  I felt so bad for him, I shed a few tears myself.

 

 

Yesterday, Ethan and I made a trip to IA City for his MRI.  What a brave boy he was!  The staff at IA City was also amazing and made all the difference in Ethan being able to tolerate everything.   Once his IV was started he was off to sleep and into the MRI scanner.  When he woke up, he stumbled around like a drunk for a little while, but mom helped him walk some of it off at the outlet mall (who can drive by Williamsburg and not stop??).  We received a phone call tonight with wonderful news...Ethan's brain and pituitary gland are completely normal!!  It did show that his optic nerves are smaller than normal, the right side being worse than the left.  This is information that we already knew from the previous visit to IA City.  They said the optic nerve hypoplasia can be associated with albinism, so we will continue to await those results.  It will probably be a couple more weeks before we hear any results on the genetic tests for that.  In the meantime, they said to keep encouraging him to wear his glasses and return to see them in May!

 

 Thank you everyone for all of your prayers. They've been working!  

So what else have we been up to?  Well, besides digging out from all the snow (with no end in sight!)

 

(Yep, that is our mailbox, peeking out of the snowbank, with big snowflakes continuing to fall)

We have been busy travelers this month.  After 2 trips to IA City, 1 long weekend to Chicago (happy 1st birthday Kayla) and a weekend in northwest Iowa, we're pooped.  But, the fun's not over yet.  My mom gets possession of her townhouse tomorrow, we have TWO birthday parties to attend this weekend, and then move my mom in the next week.  We'll wrap all of the up with my 30th birthday on March 7.  Whew!  I may just sleep through my birthday.

We'll end this blog with a few more pics just for fun.  Hope you enjoy!

 

Ethan's new favorite meal...cereal WITH milk!

 

Oops, Aidan got ahold of the Sharpie!

 

Lounging on a Sunday afternoon

 

Nice outfit Ethan!

 

Future Techie

"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!