A trip to see Dr. Granet

A lot has happened since July when we first met Dr. Hertle.

Surgery Date

We decided shortly after the trip that we definitely wanted to get surgery for Jesse sooner than later and so we called his office and we were added to the surgery wait list.  A few short weeks later and we got the call, October 6th would be our surgery date.

Wow.  This just got real.

However, it wasn't all smiles and excitement.  In fact, it was very little excitement and a lot more nervousness.  Like more nervousness than one would expect.  I mostly expected that I would be like 70% nervous and 30% excited for Jesse's future.  Instead both Jeremy and I found ourselves uneasy about the prospect of surgery with Dr. Hertle at this point.

So we decided to sleep on it a while and allow ourselves a few weeks to consider.

At this point we had done lots and lots of research, read numerous forums and hundreds of posts from fellow parents on Facebook.  So many differing opinions and so many unique children with their own unique story.  Some who love one doctor and passionately hate another, some who are indifferent, some children who've had success after one surgery, other's who've needed two, and yet others who've needed 4 and still haven't found the results they are looking for.

A few days after being scheduled for surgery, I called down to Dr. Granet's office in San Diego and requested a visit for early September.   As I've said before, we are very fortunate that we have the opportunity and resources to visit so many of the top nystagmus doctors in the country, and in the world.

I also had the opportunity to join a Facebook group for a third doctor, Dr. Lingua.  This group is a private group and solely designed as a support group for parents and kids who've had or are having surgery with Dr. Lingua.  I am so thankful to the moderator, who has not only allowed me to join their group and follow along, seeing results first hand, but who has become a close friend in this community of parents.  She's answered so many of my questions and is so supportive.

So here we were again, three doctors, two very different surgeries.  What to do.

For about a month we watched Jesse and largely put the decision of surgery our of our minds.  We knew we were going to see Dr. Granet and we hoped it would help us in making this critical decision.

Dr. Granet

Soon it came time for our trip to San Diego.  My amazing friend, Candace, agreed to come watch Max so that Jeremy and I could both be there with Jesse at the doctors office and because it's only about an hour flight away, we made it into a day trip.  Out at 4am, home by 9pm.  A thousand thank you's to Candace for her help, it was so nice to give Jesse this one-on-one time to be able to make these critical decisions.

We spent about 4 hours at Dr. Granet's office.  We knew from others that the appointment may not be on time and would take a while, so we were prepared. 

First we met with Dr. Pansara, a fellow of Dr. Granet's.  She was super nice and so good with Jesse.  She took her time but was also very quick.  I really liked that they had a lot of handheld tools to make it easier on the little ones.  She did numerous tests like previous doctors, but she also did an eye pressure test with a handheld unit.  Pretty cool.

Just as we'd figured, she agreed with previous doctors that jesse's eyes look pretty good.  His refractive error is normal for his age and his retina looks good.  He did have a light fundus but that was about it.

After some drops and a few more checks, we met with Dr. Granet.  Now I will say during this trip we did far less testing than we did with Dr. Hertle.  We didn't do a VEP or an Eye Movement Recording, though Dr. Granet did mention that he'd like to get those done before we would do any surgery, maybe next trip.

Dr. Granet came in an immediately put us at ease.  His demeanor is so much different than Dr. Hertle's.  He looked at Jesse and agreed that he has idopathic nystagmus, meaning there probably isn't an underlying cause.  He did say he might have slight, very slight, ocular albanism, or maybe fovia hypoplasia.  Either way, his vision is good and his chance of good vision is very high.  He won't have 20/20 but most likely he will be able to drive even without surgery.  Phew!

He also did something that no doctor has done up to this point, he checked my eyes.  He wanted to see if he could tell if I was a carrier.  I really liked that.  Turns out he doesn't think that I am, but without genetic testing it'd be hard to say for sure.  If you recall, Dr. Hertle was thinking that it was carrier and that it was X-linked.  So, who knows, but it just goes to show you that there's so much to be learned yet about nystagmus and specifically what causes idopathic nystagmus or congenital nystagmus.

So his refractive error is good, and he can see well, however he does have a head tilt down and in the past few weeks we've also started to see him looking out the hard corners of his eyes.  Not turning his head yet, but it could be a sign that a second null point is developing.

To that end, Dr. Granet recommended that we wait for surgery until we know for sure how many null points are established.  This would give us the best chance for a successful outcome, as the surgery that he performs needs to be tailored to the movement of the eye, and if that hasn't yet stabilized, then it's possible we'd do one surgery to correct a chin down head tilt, only to have to come back a few months later for a side tilt.  

After the exam Dr. Granet stayed with us as long as we had questions.  He never made us feel pressured to rush our questions and let us ponder our thoughts after each discussion.  He also took the time to explain things to us in engineering terms.  He understood that we were both engineers and needed to understand what we would be signing Jesse up for.  We also needed facts and data.  We couldn't just say "oh, he's the doctor, he knows best"  We needed to know and understand.

One other thing happened that really made Dr. Granet stand out to us.  He had just finished seeing a teen age patient who'd come out of surgery only a few days before.  She was still in the office and so he asked if she would mind meeting us.  It was so nice to meet her and be able to see his work and get her thoughts on the surgery and what it was like now 3-4 days later.  

Coming out of his office Jeremy and I felt so much better about him as a person than we did with Dr. Hertle.  Not that we don't think Dr. Hertle isn't a great doctor, I'm sure he's amazing, but we just never got that warm fuzzy feeling like we did with Dr. Granet.  Dr. Granet put us at ease.

I should also mention at this point that Dr. Hertle and Dr. Granet do very similar, if not the same, type of procedure for nystagmus correction.  However, what we got from Dr. Hertle was a doctor talking to us in terms of numbers "Surgery #2" is what we would have done.  What we got from Dr. Granet was someone who took the time to explain to us what he would do, even draw diagrams for us to understand, and didn't simplify our surgery down to a number.  He was careful to point out that the exact number of muscles he would cut/move would depend on Jesse's null point(s) at the time and we wouldn't know until he did some further tests.  Basically, surgery is customized to each patient.  That made a lot more sense to me.  

So we've cancelled our surgery date with Dr. Hertle and we've scheduled a follow up appointment with Dr. Granet for the new year. 

We're feeling good about where we stand now and we know that someday soon Jesse won't even remember any of this.  But not too soon, I'm not ready for him to grow up yet!

For the previous post click HERE and to read our story from the beginning, click HERE.

To view the next post, click HERE.

A trip to see Dr. Hertle

A trip to see Dr. Hertle in Akron, Ohio

Today we went to see Dr. Hertle in Ohio.  I can't believe it's been 10 months since we initially found out about Jesse's nystagmus.  We were so worried and scared.  Now he's an active 13 month old, walking everywhere, and trying his hardest to keep up with his brother, Max.

Fortunately Jeremy's parents live only about 1.5 hrs from Akron, Ohio, so we were able to combine the trip to Dr. Hertle with a family vacation and July 4th picnic (more on that later).

The facility at Akron Children's is small but nice enough.  Our appointment was at 10am and they were right on time.  The staff was very pleasant and everyone was super friendly.

Introduction

First we saw Dr. Hertle for a quick introduction.  He almost immediately noticed Jesse's head tilt of about 10-20 degrees down.  I had long suspected that he had a null point up (chin down), but his chin was never planted in his chest, so it's not super noticeable, especially because he doesn't use it all the time.  Apparently most kids will eventually elect to stop using the null point because it hurts their neck and back, but then of course this means that their vision is worse because they aren't using the part of the eye that allows for the best sight.

Eye Movement Recordings

Next up was the Eye Movement Recordings (EMR).  For these Jesse's eyes were recorded for 3 minutes with an infrared camera in a dark room.  He did pretty well and we finished on the first take.  They also did a 1 minute standard video recording with the lights on.  This was fairly well tolerated.

(EMR)

Visual Evoked Potential

After the EMR was the Visual Evoked Potential (VEP).  This test is done to test the optic pathway between the eye and the brain.  This was the most difficult test.  Jesse was not happy.  For the VEP they place a large electrode on the forehead and three smaller ones on the back of the head.  They also place a probe on their right ear.  They then cover up each eye and show a series of black and white checkered images on the screen.  Each image has a red dot in the center and they last for a minute, with the image moving slightly.  I think they need about 4 good recordings per eye.  The key to good waveforms is that the child must remain calm and look at the screen for the whole minute.  Jesse did amazing and we were able to get all the recordings done in a short amount of time.  I think we wound up having to do 6-8 recordings per eye to get good ones.   To keep him calm we sang songs and dangled little fake spiders and frogs in front of the screen on strings.  I will say, his head tilt was very noticeable during the test, which makes sense because he was concentrating so hard on the screen.

(VEP right eye)

(VEP left eye)

Eye Exam

After the VEP test they dilated Jesse's eyes for his final exam, which was an eye exam by Dr. Hertle.  Since Jesse was happy and alert, Dr. Hertle was able to do his eye exam in about 5 minutes.  Obviously he's not old enough to read an eye chart, but Dr. Hertle did look into his eye for pigmentation and any refractive error.

After all the tests were done (about 2 hours for us because Jesse was happy and cooperative), Dr. Hertle gave us his opinion.  

The Results

He believes that Jesse has a null point up resulting in a downward head tilt of about 15-20 degrees.  He believes he only uses the head tilt when he is in a new or novel environment and he is trying to visually capture everything.  Dr. Hertle believes that Jesse has some mild nearsightedness which doesn't require glasses at the moment, but may in the future.  Apparently 80% of kids with nystagmus need glasses at some point.  He also believes that he has mild ocular albinism.  

A Possible Cause

He also believes that Jesse's nystagmus is caused by some developmental disturbance of the visual system in utero.  When in utero, the enzyme system that makes pigment and give our eyes their color, helps guide and develope the retna, optic nerve, and fovia.  After birth it produces pigment.  If it functions well in utero but doesn't function after birth you get the blond hair blue eyed race.  If it doesn't function well in utero you get visual problems and nystagmus.  In Jesse's case, it most likely didn't function well in utero and didn't function after birth: nystagmus & blond hair/blue eyes.  Dr. Hertle believes this led to a slightly underdeveloped retna and lightened optic nerve -- mild albinism.  About 65% of the operations on patients with albinism have a head down tilt.

   

He believes that Jesse's nystagmus is caused by a X linked dominant trait from Shelley.  An X linked dominant trait is expressed differently in every child.  He believes that for some reason the X linked dominant gene didn't present itself in Max the way it did in Jesse.  Because they are boys, it's 50/50 that if this is caused by an X linked dominant gene they would have presented with nystagmus.  If they were girls, they would have another X from dad and would not have nysagmus because they would use the good copy of the gene.  This is the rarest form of albinism.  

Why X linked dominance instead of recessive or other?  Becuase Max has the blond hair and blue eyes but no nystagmus.  Recessive genes tend to show very consistent traits from child to child, where dominant genes are not.  It wouldn't be X dominant from Jeremy because he gave the Y chromosome.  

Dr. Hertle did say that Jesse's fovia and macula look good, and the pigment in the fovia area looks good which goes along with good visual potential.  Phew.  

Going Forward & Possible Surgery

In his crystal ball, he can't tell us what his vision will be in terms of numbers.  He does say that his eyes will probably not handicap him.  Nystagmus will guide his life a little bit, but it won't hold him back.  Most of the kids with postures (head tilt) at this age will have vision good enough to drive.  He will play sports and have friends.  His education and learning won't be inhibited by the nystagmus but he may need minimal 

Having said that, he thinks he would benefit from treatment (surgery).  He doesn't want him to have to make a choice with his vision.  His visual system is not static.  It's dynamic based on his mood, environment, and time.  The world looks different all the time.  So he tries to gain his best vision by putting his eyes where the nystagmus is the least (chin down).  When he doesn't care that much, he won't posture his head but when he does care, he will posture.  The reason for the treatment, muscle surgery, is to give him the best vision straight ahead (primary) all the time so he doesn't have to make a choice between best vision and posture.  This will become more important as he grows older and starts studying more and learning more in school where he has to concentrate.

The surgery (standard eye muscle surgery - procedure #2 as he calls it) will change the nystagmus and not only bring his null point up to primary (straight ahead) but also expand their best visual field from a cone to a balloon.  That is, larger field of good vision in addition to posture.  It's possible that the surgery won't make the posture go away completely, but it would greatly help.  For this surgery an incision made on white part of the eye and muscles are cut and reattached - He operates on three muscles - the oblique, lateral rectus, and superior rectus.  Operation #2 is three muscles on each eye - recess the superior rectus, myectomize (a piece out of this muscle) the inferior oblique, and tenitomize with reattach (remove and reattach) of the lateral.  

The operation is out patient and takes about 30 minutes.  

Side Effects

Side effects: 10-20% of the kids that have muscle surgery to treat nystagmus need a second surgery to correct a new null point, lazy eye, or some other condition that could develop within a few months or even years later.  Because Dr. Hertle does about 10-12 eye muscle surgeries a week, this is about 1-2 children.

  

Final Results & Choices

So we will get the quantitative results from the ERP and the VEP in a week or so, but they will probably just confirm what Dr. Hertle believes right now.  

Now we have a choice.  Should we do something and if so, when.  Dr. Hertle believes the risk of doing something is less than the risk of doing nothing and the best effect would be when they are younger.  But of course it's easier when you're removed.  As Jesse's mom and dad this is a huge decision for us.  

I think we've always believed that we would always have surgery for Jesse, but now that time is approaching it's such a difficult decision.  For me having confirmation of his head tilt, and really noticing it as he was trying to concentrate on the screen during the VEP makes me feel that the surgery will help him and it gives me confirmation that he will need correction someday to have the best possible outcome in school and in life.  However, is that time now?  I know if we do it now then 6 months, a year, three years from now this will just be a blip on the radar.  But what if something bad happens.  What if he's in that 20% that needs a second surgery.  What if something goes wrong and his vision gets worse?  He's such a happy go lucky boy, I can't imagine doing anything to him that could change that.   

Decisions, decisions.

Then of course there's the question if we wait and go with Dr. Lingua's procedure.

Next: A trip to see Dr. Granet.

If you haven't been following with our journey, click HERE to start from the beginning.  

Spring Break 2016: Cancun, Mexico

Cancun was... AMAZING!

I love the water.  I grew up a water baby and I've successfully turned Max into one too.  

For the past year I've been trying to find the best time to take a family trip to the beach.  November looked promising but the abundance of seaweed and the fact that Jesse wasn't yet mobile made it a less than ideal time to visit the Caribbean.

As we headed into 2016, spring break was approaching fast.  Last time we kept the kids home for the week it broke us, so a trip somewhere was definitely in the picture.

After spending days researching hotels, making lists and reading trip forums, I narrowed it down to a handful of hotels in the Cancun and Playa del Carmen area that were geared toward kids: Iberostar Cancun, Iberostar Paraiso Lindo, Iberostar Paraiso Maya, Paradisus Playa del Carmen, Royal Solaris Cancun, Barcelo Maya Palace Delux, Paradisus Playa Del Carmen La Esmeralda, Hotel Ziva, Sando Playacar.  

Update: I also just found out about the Barcelo Maya Caribe from a friend and I think we may check out that resort next year. 

We finally settled on the Iberostar Cancun.  The main reasons for this choice were:

1) kids water playground out by the main pool and activity area 
    (read: not tucked in the back of the property)
2) beautiful beach steps away from the pool and visible from the pool 
3) really nice big pool and gardens with swim up bar, of course
4) decent reviews of the food
5) all inclusive

While we typically aren't 'all inclusive' type of people, for this trip it was definitely the way to go.  At first I was very nervous about spending 3 1/2 days just lounging by the pool and playing in the sand, but it turns out that the time flew by and we could have easily stayed a few more days.  The kids kept us active between the big pool, kid water playground, and the beach.

We didn't even get a chance to leave the resort to visit Tulum or Chichen Itza or go down to the water park Xcaret.  Perhaps on the next trip.  

As for food, we did get to try out all the resort restaurants, as I was able to reserve our dinner time as soon as I booked the room.  This was key since they were booked out at least two days in advance.  Of course there was always the buffet option, but being the planner that I am, I always had a special restaurant booked for dinner.  We enjoyed the steak house and Mexican restaurant the best, but the hibachi was good too and Max seemed to enjoy the show.  The snack bar had some really good burgers for lunch and one day they even did paella by the beach.

Some highlights from the trip include:

 - Being able to push the second bed into the corner so Max and Jesse could sleep together and thusly Mommy and Daddy could share a bed.  

- Jesse sleeping incredibly well in the big bed with Max.

- Max waking up, rolling over to Jesse and signing "good morning Jesse"  
(it's a song we wrote and sing to Max or Jesse when we need to wake them up.  As adorable as it is, it's also not so great when Max wakes up Jesse, loving or not.  It's too cute to stop, but come on kid, give us a break.)

- Daily naps for the kids by the pool.  Yep, max would crash out on a padded lounge chair for about 2 hours each day pool side.  It was great.  Poolside naps are, in a single word, awesome.  

- Family nap time poolside on day 3.  Did I mention that we got both kids napping at the same time!

- Sand castles on the beach.  The sand was so nice.

- Getting drinks from the swim up bar!  Max loved his blended fruit drinks.

- Pina Coladas! 

- Being lazy and doing nothing for 3 1/2 days.  

- Fun Frozen show Wednesday night.  Max loved it. 

Overall I'm really glad we choose to come to Cancun and this resort, we had such a great time. 

Check out the full set of pictures HERE.

A big family Christmas - Part II

Howdy Folks!

Day 1 and our little cowboy was ready to go.  We found these awesome hats in the main house and if you've read Part I already then you know that there were just about enough for all of us.

The first two days of our stay were pretty darn cold.  So cold that we even got some snow!  Yes, we traveled from sunny California to be met with snow in Texas.  What is going on with this weather!

The first day the cold didn't bother us too much since we spent most of the day inside unwrapping presents.  I wish I would have taken a picture of the gift table.  It was ridiculous.  And yes, we had to find a way to get all those presents home.

I think it was at least 1 or 2pm by the time all the Christmas gifts were unwrapped and even Max was ready to take a nap.  Though our baby monitor reached from the cabin to the main house, Max was perfectly content to sleep in his "fort" in the kitchen.

Let me explain.

In the kitchen proper there was a small nook, enough for a twin bunk bed and nothing else.  It also had a curtain across it. (see the picture to the right)  So this is where max would sleep each afternoon and also play fort with Uncle Matt and Daddy.

Needless to say the child was quite spoiled this Christmas.  When you are 1 of 2 grandchildren on both sides and the other can't yet talk or walk, you tend to get very spoiled.  His favorite toy was the playdough.  Here's one of many pictures of him playing with the stuff.  Even now, we have to keep it hidden or it will be everywhere.  He especially loves the pusher tool in the lower left of the picture.

That night as we headed back to the cabin it began to snow.  Like, significant snow.  And in the morning there was a beautiful dusting of snow across the ground.  I had to sit Jesse down to take his picture.  His first snowfall!  I'm sure he didn't understand, but he sure did smile big.

Day 2 headed out to some wineries.  We were, after all, in the Texas hill country.  I cannot believe how many new wineries have popped up along 290 out by Fredericksburg.  There was no way we could even hit a quarter of them in our stay.

Because it was so cold, we focused on indoor places.  First we hit up Becker, then Grape Creek, then Woodrose. Although we would have loved to visit a few more, the low 40's temperatures kept us from enjoying the outside.  Also, we'd already purchased more bottles of wine than we could drink, so it was time to stop.

Back at the house we gathered for more play time, drinks, and lively (?) conversation.  Well, lets just say it was a bunch of tired adults and two very awake kids.

Our last day at the ranch the weather was perfect.  And it's a good thing too, because everyone needed some outside time.  Max loved playing on the swing set and enjoyed the bird blind too.  Jeremy, Matt, and their dad played basketball, and the rest of us sat outside drinking wine on the beautiful sunny day.  It was still chilly enough for jackets, but feeling the sun on your face was so nice.  That night Jeremy and I even left the kids at the ranch and headed out for a date night!

We had such a wonderful time at the ranch and we were sad to have to say goodbye to everyone.  In retrospect I wish we would have booked at least one more night at the place.

Austin

Of course no trip would be complete without a stop in Austin.

After our stay in Fredericksburg, we headed back to Austin to visit with friends and enjoy some good Tex-Mex and BBQ before we left.  We were so fortunate to be able to see so many friends in the short time we had there, and to those we didn't get to see, we will catch you next time!

Of course we also enjoyed some scrumptious meals at Hula Hut, Rudy's, and Torchie's.  It was so great to see our friend Mark for our traditional lunch stop at Torchie's and even more fun to be able to randomly text him with a "hey, what are you doing for lunch Thursday" message.    We also got to see our friends new little baby boy who arrived just in time for our visit :)  I'm sure he took us into consideration when he decided to make his debut.

Though it was nice to see everyone, it is great to be home and was nice to have a few more days to relax and adjust before coming back to work.  Speaking of work, I should go...

Check out the set of pictures HERE.  

A big family Christmas - Part I

About a year ago, Jeremy informed me that he wanted to have a big family Christmas.  At the time I thought he was crazy and perhaps had one too many drinks that night.  I reminded him of the hilarious, and oh to real, movie National Lampoons Christmas Vacation.  But he insisted, "It'll be great" he said.

A few weeks later and we were still talking about it.  A few months after that the Quiet Hill Ranch was booked for the entire family, just 30 minutes west of Fredericksburg, TX.  We were committed.

So the day after Christmas, we hopped a plane at 6am and headed down to Texas.

After some short delays and the very fortunate circumstances that allowed us to get a free SUV upgrade from Alamo (thank you), we were on our way to our first stop, Torchy's Tacos!

Living in California, I cannot begin to express how much we miss good tacos and BBQ.  Even my parents in PA miss it.  So much so that they stopped by Rudy's for BBQ before meeting us at Torchy's.

While we all arrived in Austin at different times, it seemed appropriate that our first family gathering would be at Torchy's.

After some quick eats, we loaded up the caravan (3 cars for 7 people) and headed west.  Second stop: Stonehouse Vineyard.

Now, we've been living in California for about a year and a half at this point and because we live so close to Napa and Sonoma we tend to head up there fairly often.  Despite the wonderful bold reds produced in California, I've always held a special place in my heart for Texas wines.  Texas is where I first started enjoying wines and visiting wineries.  A Texas winery, Flat Creek, is where Jeremy and I went on one of our early dates and it's where we got engaged.

However, somewhere in the middle of our first tasting at Stonehouse, I realized something.  I realized that I may have turned into a wine snob.  Even those reds from Australia, the sister winery to Stonehouse, just didn't taste that great to me.  They all tasted very smooth and fruity, not bold and dry like I was used to.  We even left without buying a bottle of their signature Tawney port!  Something has changed indeed.

With two bottles of wine in hand, it was time to head to Fredericksburg.  The boys headed to the grocery store and the rest of us headed to the ranch.

A quick note about the Quiet Hill Ranch.  This place is amazing.  Because we were four families we were able to rent out the entire place to ourselves.  4 cabins and 1 main house.  The cabins were small but cozy and the house was large and beautiful.  Very Texas, very open, huge kitchen.  Also, the cabin that my parents were occupying, #4, was a handicapped cabin.  I'm not sure how we stumbled upon a place so perfect, but it was awesome.  The grounds even had a swing set for Max and an enclosed bird blind for viewing wildlife.  I could have stayed for 2 or 3 more days easily.

By the time the boys got back from grocery shopping it was already 10pm.  For those of us coming from the west coast this wasn't so much of a problem, but for the east coast folks it was pretty late, and we hadn't eaten dinner yet.  So Dad and I threw together some chicken noodle soup, we all chowed down, and then headed to bed.

... To Be Continued with Part II