September 2012 Ped Op Visit



September Ped Op Visit Day





Alex visited the Ped Op at Duke at the end of September.  It was a different experience to take a squirmy toddler instead of a baby. Having his pressures checked was the hardest part because he wanted to grab the equipment or twist his head away.  He had a great visit - no glaucoma, no cataracts, no glasses.  He is using his right eye more than his left and the left is drifting out a bit.  This is called strabismus which is a muscle imbalance of the eye which leads to crossing of the eyes or a “lazy eye.” In esotropia, the eye turns inward. In exotropia, the eye turns outward, which is what Alex is experiencing.  I hadn't noticed it because of the nystagmus (wobbly eyes), but after the doctors pointed it out, I see it.

The Vision for Tomorrow Foundation has a great summary of aniridia's impact on vision.  For strabismus they note the following:

Impact on vision:  If uncorrected, strabismus can lead to amblyopia, or the loss of some vision function in the weaker eye.

Current medical/surgical treatments:  Strabismus is correctable with glasses, eye-patches and/or surgery.

For Alex, the current treatment is patch therapy where he wears an adhesive patch on his right eye for a total of 5 hours per week.  His next visit is in four months and we will see if there has been an improvement with the left eye.

We call it "patch time", but lately I try not to say "patch" because he is a smarty pants 1 year old and knows what the word means and tries to take off the patch.  The very first day he seemed scared after we put on the patch and cried quite a bit.  You can see the sniffles below.



First patch day - Mr. Grumpy

Even that first day he was easily distracted after a few minutes by playing with toys, books, and cruising around the room.  We try to give him toys that he really likes. 



Patch time is a family affair

The first few days were difficult, but he doesn't seem to mind the patch unless he is really tired.   He's worn it during meals, on walks, or out at a store.  The hardest part is getting the patch on.  I sneak up behind him and try to put it on as quickly as I can.  We are hoping the patch therapy works and we can avoid surgery.

Summer 2012 in Pictures

This summer flew by and we were busy having lots of fun.  Here are some of the highlights.

First trip to the zoo (6/24/12)

Picnic lunch on the driveway (6/26/12)

First time drinking from a sippy cup (6/28/12)

 

First haircut (6/30/12)

Marbles Museum (7/4/12)

First ride in big boy car seat (7/22/12)

Escape artist (7/23/12)

Trying puffs for the first time (7/31/12)

I'm 1! (8/21/12)

1st Birthday Party (8/25/12)

 

Splish Splash

Alex went with Grandma and Grandpa to a Governor Morehead Preschool (GMP) play date today.  He has lots of fun with water play and the foam mats in the gym. 

Earlier this week he had his monthly GMP visit which included an update with the Raleigh Children's Developmental Service Agency (CDSA) to do a 6 month review of his Individual Family Service Plan (IFSP).  He met the goals we set in December which included rolling over/reaching for toys, sit unsupported, expand his play with sounds and start using vowel/consonant combinations, imitatae facial expressions/sounds/gestures.   We discussed upcoming goals which will include working on tracking objects with his eyes and adding finger foods.


Physically he is pulling to stand for very long periods of time.  Crawling on all fours.  Lots of interactive play with sounds and facial expressions.  He is very vocal and loves to play games such as making sounds into cups.  And being a boy, he likes his soft tag football and outdoor balls.  Dad was dribbling the ball with big sis and Alex imitated when it was his turn with the ball. 


We love our handsome little man and look forward to seeing how we will progress with his new goals.  We can't believe he is already 10 months old!

Alex at 9 months

Alex turned 9 months old yesterday and he also had a Ped Op visit at Duke.  He is doing very well - his pressures were good (no glaucoma), no cataracts, and he does not need glasses at this time.  The intake doctor and his regular doctor both commented that he has made a lot of vision progress since his last visit in February.  He sees better with both eyes versus one eye at a time due to the Nystagmus, which they said is typical.  Next appointment in 4 months.

We are having monthly visits from the Governor Morehead Preschool (GMP).  We also have Children's Developmental Service Agency (CDSA) visiting about every 1-2 months.  Both agency representatives say he is developing well and in the past month has really progressed with vision.  We completely agree - the only thing we notice different than his sister at this age is distance vision, but feel he is catching up there.  If I am standing a few feet away and smile, he smiles back.  And Grandpa tested his distance vision with a light up toy from 15-20 feet away and Alex smiled at it.  It will be interesting to find out how much he can see when he starts to talk which, by the way, was yesterday.  When Rob opened the door to take big sister to school, Alex said, "bye" and waved his hand.  And later on in the day while at Grandma and Grandpa's house, Grandpa came inside from outdoors and Alex said "hi" and waved.  Way to go Grandma and Grandpa for teaching him these words!  He does an adorable Gator Chop where he moves both arms up and down over and over super fast.  He is also repeating sounds. 

In terms of physical development, he is days away from crawling.  He is creeping right now and cannot be left alone without moving across the room to play with big sister's toys.  He especially loves maracas and books.  He has four teeth - two on top and two on bottom.  And he is working on 4 (yes, 4) more on top.  He started solid foods at 6 months and had his first meat last week - chicken.

We are struggling a bit with the light in the car.  A towel was working for a while since he had figured out how to take down the car seat cover.  But he has figured out the towel now, too.  Sunglasses won't work because he pulls them down to chew.  So I think we are going to get the windows tinted the darkest shade allowed. 

Sleeping - I am going to jinx myself on this one.  He was a great sleeper and then with the teething and a lingering cold that turned into an ear infection, he was waking up at least once a night.  Multiple times for a while.  But since he has had the antibiotics for the ear infection, he has been sleeping all night again.  Fingers crossed he sleeps through the night tonight since I just proclaimed this excellent sleeping abilities.

Alex is an extremely happy and mellow baby.  He will play and study his toys for long periods at a time.  He really focuses on the details of the toys - especially the tags.  He smiles and smiles and smiles.  His giggle just brings a smile to our faces.  And he loves his sister.  He will look up and smile the sweetest smile at her.  He loves reading books with us and high five parties with dad.

Vision for Tomorrow Foundation has a new website and I wanted to share that link here.  The website has a really good FAQ section.

"Guest" Post - Rob and Alex Governor Morehead Preschool Playdate

Ok, so this is my first ever attempt at blogging and I’m kind of wishing Erica hadn’t set the bar so high.  Alex and I visited the Governor Morehead Preschool for the Friday with Families “Music with Susan Erickson” special event.  Even though it was a cold and rainy November day we were greeted with warm smiles by the teachers as they directed us into the mat room.  Alex was fast asleep and I had to wake him up, which must have been confusing for him since I’m normally asking him to fall asleep.  We started with “If you’re happy and you know it” and Alex was all smiles as I helped him clap his hands and stomp his feet.   The next song used bells and while cradling Alex’s head he reached for the bells and let me know he didn’t need me to cradle him (he is incredibly strong IMHO).  So I let him sit up on his own in my lap as they came to collect the bells and hand out our scarves for the next song.  As one of the only Dads in the room of course they decided to give me the hot pink scarf J.  Alex LOVED the scarf.  Even though he was sitting in my lap I didn’t need to see his eyes to know he was tracking the brightly colored scarf as his whole head was moving back and forth as I waved it in front of him.  We ended on “You are my sunshine”, a song Alex is very familiar with thanks to big sister Julia and despite my complete inability to carry a note once again Alex was all smiles.  

During the musical play date I got to talk to other parents who shared their experiences (my favorite was the mom who told me how the doctors had told her that her son had no vision as her fifteen month old walked around obstacles and found and picked up the ball he wanted to play with).  

While I came hoping to find support from talking with other parents experiencing a similar situation, the greatest thing I took away from this day was the smiles and pure joy I saw from the kids as they danced, played and laughed.   They were truly inspirational.   

    

Alex and I ended the day by taking a tour of the Governor Morehead Preschool.  It is honestly an amazing facility with a great emphasis on improving current vision and enhancing other senses.  Alex really liked the dark room where they use backlights and light boards.  They had a staggering amount of resources and activities.  The facilities were great, but even more impressive was the staff and how apparent it was how much they care for the kids and how hard they work.

I want to end my first post by thanking Erica for putting together this blog and by thanking everyone else for their thoughts and prayer, it has been greatly appreciated.

Visit to Duke

Follow Up Visit at Duke
Yesterday Alex had an appointment at Duke Eye Center.  His pressures look good - no Glaucoma.  And no cataracts.  Our next appointment is in three months, which is February.  We plan on discussing the renal ultrasounds with our pediatrician.  Here is a picture of little Alex while we were waiting for his appointment.  He is so much bigger than at the last visit.  We had to remove the newborn insert from the car seat since he is well over 11 pounds. 

Ped Op Visit at Duke 11/15/2011

Alex at 3 Months
At his two month well baby visit Alex was 11 pounds 14 ounces and 23.5 inches long and that was a few weeks ago.  Alex is tracking objects with his eyes which is great.  I definitely think he sees our faces.  His favorite toy is a red, white, and black bug with crinkle wings.  We attach this to the mobile on his swing and you can see his eyes following it.  We have a light up toy and some others to work on stimulating his vision.  In terms of other milestones for an almost three month old, he is right on track.  Smiling, laughing, cooing, gripping objects - everything listed in the baby books.  And he is so strong!  Right after he was born he held his head up.  Now he is trying to roll over.  We have to fasten the safety belt on his swing because he throws his right arm towards his left side and twists his body.  He does this on the changing mat, also.  We have noticed a lot of sensitivity with indoor and outdoor light which is expected since there is little iris to regulate light.  He does have the tiniest rings of blue around his pupils.  Blue eyes, just like his momma.  We are making an effort to position him with his back to windows and to limit exposure to the sun until his glasses and hat fit.  We keep trying them on but they are still a little too big. 

Cutest little mouse 10/30/2011

 

 

 

 

 

 

 

 

Baptism 11/5/2011

Aniridia Friends
I think the most comforting thing has been the support from other families and people with Aniridia.  If you or your family member has Aniridia, the United Families of Aniridia group on Facebook is wonderful.  The moderators are very supportive and answer questions.  I have been able to connect with other parents and it has been so helpful.  It's nice to get their recommendations for sunglasses and things like that, but it's most comforting to see older kids with Anirida and how they are thriving.  Here are links to a couple of blogs you might be interested in checking out:

Following gorgeous little Avery as she grows
Tiffany and her journey to become a nurse

Genetic Testing Results, etc.

Genetic Testing
This is quite an overdue blog post.  I updated everyone on Facebook but not on the blog - so sorry.  The end of October we received the genetic testing results and Alex has a mutation in the PAX6 gene, but no deletions or duplications noted in the PAX6, DCDC1, ELP4 or WT1 genes.  The mutation in the PAX6 gene only means he has isolated Aniridia and not WAGR.  WAGR would be deletions/mutations in PAX6 and WT1.  There is some debate whether or not to continue the renal ultrasounds.  This is something we are still thinking through.  Here is the link to a website outlining the genetic testing.

Governor Morehead Preschool
This past week Alex was evaluated for the Governor Morehead Preschool.  We are really exited to work with the teachers at the preschool for vision training.  I think the best thing is that they visit you in your home or child care facility to find the best ways to help develop the child's eyesight. 

Duke Eye Center
We have a follow up appointment with the Duke Eye Center today to monitor for glaucoma and cataracts.  Here's a picture of Alex after his first Ped Op visit.  I will make sure to take a picture of him at this visit - he is so much bigger now!