Wednesday, October 21, 2015

Every baby is unique

The past month has been a roller coaster of emotions and unknowns for our family.  We've been taken on a journey that we didn't anticipate, but along the way we've learned to cope and breathe and realize that everything is going to be okay.  Life is wonderful and we have an amazing family with two beautiful happy little boys who mean the world to us.

As we are now more informed, better educated, and more reassured, we feel ready to share our story with you all.  Join us on our journey.

Part I: The Day Our World Turned Upside Down

The best of the worst

Over the last few weeks Jesse has continued to hit some key milestones in his development.  Like most parents, we are of course thrilled to see our little boy grow and develop, but given Jesse's nystagmus and unknown visual acuity, we are even more excited that his development is progressing so well.

Over the last week Jesse has started to sit by himself for a few seconds, reach out and grab toys with both hands, scoot across the floor, and even balance while standing against a couch.  All of these things tell us that though his eyes may be moving his visual acuity is good.

How good?  Well, we still won't know that for a while.  But at least good enough to be developmentally on track.

Additionally, this week we were visited by a vision specialist who is a teacher with the Oakland Unified School District and a program coordinator through California's Early Intervention Program.  This program is designed to help young children ages 0 - 36 months who have a visual impairment and get them started with vision therapy as early as possible.  This is especially key since a child's vision develops so much within the first year or two of life.

The two ladies who visited were very pleased with Jesse's development and found that he was actually exceeding some of the typical milestones that they would expect from a 5 month old.  Phew!  In fact, he is doing so well that we collectively decided that dedicated vision therapy would be something that would not really benefit him at this time.  Though we will continue to monitor his progress and meet with them again in about 5-6 months, we are happy that his nystagmus doesn't seem to be slowing him down at all.

Over the next few months Jesse will continue to develop and we will monitor his progress.  In November we will visit Dr. Lingua in LA and around February we will probably visit Dr. Hertle in Ohio to discuss options.  Though we will visit these doctors to understand what they can offer, most likely we hold off on any major decisions until Jesse is older and we can see how much the nystagmus calms down on its own, especially if it doesn't appear to be hindering him at all.  We will also have a follow up appointment with Dr. Orel-Bixler in March along with a follow up with the ladies from Early Intervention.

One thing that drives me crazy is how everyone we meet with tells us "there is no cure."  I suppose that is true, but it really bothers me how many people aren't even open to the idea of surgery.  I know surgeries are risky but such close mindedness, especially in California, displeases me.  As a parent I will consider every option before closing any doors.

As we take this wait and see approach, we are optimistic about the future and excited to watch Jesse grow and develop each day!

Part VI: Two For Tuesday

A second opinion

Before we even met with our first optometrist, I knew I would want a second opinion.  I did a bit of research and found that the UC Berkeley Optometry School has a facility on campus that has a specific infant/toddler clinic.  Perfect.

Fast forward 3 weeks and today was our appointment with Dr. Deborah Orel-Bixler.

First of all, let me just say that she is AMAZING.  The facility is amazing, the doctor was amazing, overall I couldn't recommend it more.  What really stunned me the most was when she told me that they book a full hour with each patient.  Yes, an HOUR.  Wow, what service.

After going over some family history she got down to business.  Instantly we knew this was going to be much different from our first appointment with Dr. Dimiceli at Childrens Hospital.

Dr. Orel-Bixler started with some flash cards.  She held up two large cards, one white, one white with a black smiley face).  She then watched Jesse's eyes to see if he would fixate on the one with the smiley face.  Of course fixate is a strong word, more like pause to notice, which basically indicated that he could see the image.  She continued this with the smiley faces going from black to various shades of lighter and lighter gray.  Jesse did good on this test.

After that was the color test.  This was a little more difficult since babies don't always have great color perception at this age anyway.  She gave him a cautious passing on this test as well, but said we would need to do it again at 9 months so we could be sure.

The next test involved a large card with a simple contrasted picture either near the top or bottom of the page.  She would show it to Jesse to see where his eyes went before looking herself.  She said this kept her honest since she could judge his eyesight without first knowing where they should be going.
Jesse did good, but was quickly getting bored of this game.

We then moved on to some peripheral vision tests with some bright lights, which he did great at.  She also darkened the room and shined a light near his eyes to see if the brightness would bother him.  It didn't, which is good.

She then moved onto what you would think would be part of a normal eye exam.  She looked in his eyes at his retinas for discoloration, then she dilated his eyes and looked at his optic nerves and for any refractive error.  These were the same tests that Dr. Dimiceli did too but Dr. Orel-Bixler seemed just so much more at ease doing them.  She sang to him and just really kept him calm.  So much so that she was able to get a really good look at his eyes.

After all the testing we were able to come to a few conclusions.

He probably does not have leber's amaurosis (effects the retina) or achromatopsia (color blindness).  His optic nerves look great, so his nystagmus probably isn't caused by optic nerve hypoplasia (OHN - underdeveloped optic nerves) either.

That was all wonderful news to hear.

After looking at his eyes for a while, she's also probably ruling out ocular albinism, though we are still cautious about that as it is early to rule this out without doing an ERG, but more on that later.  He also has no refractive error, so at this point he doesn't need glasses.

Remember, decreased visual acuity caused by nystagmus cannot be fixed with glasses unless there is a refractive error.  There is some talk about using contact lenses to calm the eye from moving or glasses with prisms or negative lenses to also help the nystagmus, but that's not the same as trying to fix a refractive error, and from my understanding it's only helpful in certain cases.  For example, the negative lenses may help bring objects that are farther away seem closer so that it is easier for him to focus on them; convergence they call it.  But at this point it isn't something we are looking at because it's a bit too early to tell if they would help, especially since we haven't yet seen if he will develop a null point and where that might be.

Note - a null point is the point where the eyes will naturally gravitate toward where he can see best.  Often this is the point where the eyes are most calm and don't move as much.  It can result in severe head tilt depending where the null point is.  This is where surgery may really help.

The doctor also looked for signs of strabismus (lazy eye).  He doesn't appear to have this, however kids under 6 months old often have trouble coordinating their eyes, so eye misalignment is common at this age and makes it difficult to say for sure if strabismus is present.  She also ruled out any type of transillumination defects.

So at this point it is most likely that Jesse has what they call congenital motor nystagmus - CN, also known as ISN (infantile nystagmus) with no real underlying condition.  His nystagmus is pendular in nature (side to side) and seems to travel less as objects get closer to his face with smaller faster movements when he tries to fixate on an object (fixation nystagmus).

If he has to have nystagmus, this diagnosis has the best chance for good vision.  We are hoping for something better than 20/50 but it's far too soon to tell.

Most likely he will have trouble with stereopsis or fine depth perception.  Things like concrete curbs or all beige stairs may give him trouble.  However, this is only one factor that aids us with depth perception and he has all the other depth perception indicators, so he should quickly learn to overcome this setback.

One test that we did not do today was an ERG or electroretinogram.  The ERG is a recording of the bioelectric potential of the eye.  This test could be done to fully rule out some of the conditions mentioned above, specifically issues with the retina's and optic nerves.  However there are some risks.  Should Jesse cooperate the test could go fine, but if he doesn't they would need to sedate him, and that always carries risks, especially at his age.  At this point we are on the fence and will probably spend the next few days/weeks talking it out before deciding if we want to get that test done now.  Having the information would definitely make us feel better, but at the same time it wouldn't change any course of treatment at this point, so it's a tough call, especially given the results from today's tests.

We may also do a VEP (visual evoked potential) test in the future as well, but again he is too young right now.  Maybe at 9 months or a year.  An MRI is also an option, to rule out any neurological issues, however unless his weight drops off his curve or he presents other developmental issues we will probably hold off as the MRI definitely requires sedation.

For me, today was amazing.

It's all about getting him as much help, testing, diagnosis, visual stimulation, vision therapy, and surgery (if needed) for him to lead the most normal life that he can.  I would love to see him be able to drive someday, something that most of us take for granted.

I can't tell you how much Dr. Orel-Bixler made us feel at ease and better about Jesse's condition.  I know it's going to be different than what we had expected for our little boy, but it's going to be okay.  Some days will be harder, some easier, both for him and I.  I know that there will still be many sleepless nights in my future, staying up late to research the next greatest treatment option or worrying over something that I'm sure I'm making a bigger deal out of than he ever will.  But as his mom, that's my job.  My job is to worry without him ever knowing.

Next month we will have a follow up apt with Dr. Demiceli and one at 9 months with Dr. Orel-Bixler.  We were also able to get a consultation appointment in LA with Dr. Lingua just before Thanksgiving.   Since we will already be there, we figured it wouldn't hurt to take the time to see him and learn more about the procedures that he performs.  We already know that he won't do his procedure before Jesse is 2 years old and his null point is established (if any), but if it gives us an opportunity to learn more about his treatment options then the appointment is worth it.  And of course we are on the wait list for Dr. Hertle, most likely sometime in January or February.

One thing I mentioned to Jeremy tonight is how lucky we are that we can just focus so much energy into care and research for Jesse.  For so many people they would never have the opportunity to see 2 doctors within a month, to drive to LA, to fly to Ohio, to get a 2nd, 3rd, 4th opinion.

Part V: The Best of the Worst

The Waitlist

As I mentioned in my last post, last week I contacted Dr. Hertle's office and spoke with his assistant.  She was very nice and took the time to answer all my questions.  Not that I had many at the time.  I was so worked up that I was shaking.  Fortunately she was very nice and helped calm my nerves a bit.

After our phone call she sent me some paperwork and by the next day we were on the waitlist.

We ARE on the waitlist.


I'm still not sure how to handle all this.  I'm so glad that the waitlist is 4-5 months out, because there's no way I could make such a life changing decision at this point.

As for Jesse, he's doing great.  Over the last week he's made eye contact with me a few times.  His eyes into mine.  It was pure happiness.

For the most part he still looks up when he laughs, and when he looks forward he clearly sees something but  you can tell he's not really looking at it.  Or at least it doesn't seem like he is.  He hasn't developed any head tilt yet and his eyes don't seem to be drifting to the left as much as he was before.

But this kid is on track, or very close to, for most of his milestones.  He has great head and neck control, he can push up and look around when on his belly, and tonight he used the couch to balance for a few seconds standing up.  Yea, he loves standing.  If he's standing he's usually laughing.

He also reaches out to grab things and gets pissed off when something is out of his reach because he doesn't think he can crawl to it yet.  He tries, but mostly he just goes in circles.  This baffles me since he's always up against the head of his crib by morning, so clearly he know's how to move forward!

Tomorrow we are going to call Dr. Lingua's office and talk to his staff.  His procedure is a bit different from Dr. Hertle's or Dr. Garet's in that he cuts 2-3 muscles around the eye but does not reattach them.  There's a bit of controversy in the field about his work, but I'm going to talk to everyone that I can that might be able to help Jesse before I make a decision about what is right for him.

Part IV: A Second Opinion

"Treatment" options

10 days ago I determined that my youngest son has nystagmus and 3 days ago that was confirmed by our first eye doctor.  You can refer to my previous post about the day our world turned upside down.

Since Jesse's diagnosis I've been scouring the internet for anything and everything about nystagmus.  What are the treatment options?  What therapy is available?  What should we do with him now to exercise his eyes more?  What presents should I buy him at Christmas to maximize his enjoyment and yet challenge him?

First the obvious question.  No, there is no cure for nystagmus or optical albinism (if that is what is his underlying condition).

Second, there are a lot of promising options out there.

Since beginning my research I've joined the American Nystagmus Network on Facebook.  Yes, thank you Facebook.  Thank you for bringing me closer to a group of people who have thus far been a wealth of information for me.

From that group and from doing research online I've found out about several doctors across the country who have lead cutting edge research into "treating" nystagmus.  I'm cautious to call it treatment but their results have been promising.  Two in particular have been of interest to me lately: Dr. Hertle (Akron OH) and Dr. Granet (San Diego CA).

Today I was at work pumping milk for Jesse during my morning break and I did more research into Dr. Hertle.  I started to get so worked up and nervous that I only pumped enough for barely one bottle (thanks stress).  I called Jeremy and told him we needed to at least make contact with Dr. Hertle to see what he had to say.  We would call in the morning.

Yea right.

5 minutes later I was sitting in a conference room calling.  I couldn't wait.  I needed to know.

The nice woman in his office answered the phone and was very understanding and informative.  She obviously got calls like this everyday.  She told me the first steps that were necessary to get on his wait list (about 4 months at this point) and she started talking me through what it would be like if we chose to visit them and if we chose to have surgery.

Yea, surgery.  On a 5 month old (or 9 at that point).

Okay deep breaths everyone.

I was shaking.  I'm still shaking.  The rest of the day was not especially productive for me.

Okay back up, what is all this surgery stuff?

Dr. Hertle is at the forefront of some cutting edge research (and now approved FDA procedures) for helping patients with nystagmus.  The first step is a consultation, as you'd assume.  You go through a series of tests (eye movement recording, visual evoked potential) and determine what the best course of treatment might be for you (or your little one in this case).  Treatment options could be 1) wait and see 2) contacts to help slow down the movement of the eyes 3) drops, though I don't know as much about this one or 4) surgery.  Surgery involves cutting the muscles around the eye and reattaching them to move the null point and help correct the visual acuity, presumably from the calming of the eye movement.

That paragraph pretty much sums up what I know so far about the treatment options and surgery.  It's terrifying to think we might be cutting into our little guys eye.  I can't even think about it.  There is still so much to research and learn.  It would be such a big decision I know that I'm not nearly ready to make it yet.  But I am hopeful that there may be a way to correct his eye movements and help him see better.  And I know getting on a wait list only means that you'll have a chance to see the doctor.  Jesse may not be a candidate for any treatment, or we may decide he would benefit from surgery but we choose to wait a year, or maybe we just feel that we aren't ready and we don't even schedule the appointment once we get the call, but at least we will be on a list and have some options.

At this point options are all that I'm searching for.  What are our options and what is the best thing that we can do for sweet baby Jesse?

Part III: The Waitlist

The day our world turned upside down

Our sweet baby Jesse had his 4 month checkup in early September.  At the time I didn't think much about it and even asked my husband to take him alone since I was way behind at work.  He graciously agreed and I went on with my day.

That afternoon he called to tell me that everything went well but that the doctor was a bit concerned about Jesse's eyes and she wanted us to see a specialist.

Okay, I thought.  Not a problem.  Jeremy has terrible eyes, so I just figured that Jesse got the short end of the straw and was blessed with his genes in this area.

It took forever to get the referrals to the right people, but by the end of the week we are able to make an appointment for him at Oakland Children's.  Initially they tell us that we won't be able to come in until the end of September, but after some sweet talking and urging at our doctors request we are able to get squeezed in for the next Friday.  Great.

At this point we've hit the weekend and we are headed to Monterey for my first big triathlon.  We have a great time on Saturday and head back in the afternoon.

About halfway though our drive something inside of me clicks.  "Why would our pediatrician be so insistent that Jesse get seen by the pediatric ophthalmologist "sooner rather than later""?

So I start googling... and googling... and googling.

It wasn't good.

I quickly came to the conclusion that Jesse had a condition known as nystagmus.  Here's an excerpt from the American Optometric Association:

Nystagmus is a vision condition in which the eyes make repetitive, uncontrolled movements, often resulting in reduced vision. These involuntary eye movements can occur from side to side, up and down, or in a circular pattern. As a result, both eyes are unable to hold steady on objects being viewed. Nystagmus may be accompanied by unusual head positions and head nodding in an attempt to compensate for the condition.

Jesse's eyes move rapidly horizontally, especially when he is tired.  Sometimes it's a slow movement or none at all, but even when there is no large horizontal movement there are small quick jerks when he tries to focus on something.  He's also begun to develop a 'null spot' (where his eyes can remain stable) to the left and looking up.

Jeremy and I spent the next few days feverishly searching the internet for anything we could find.  At this point we hadn't yet seen the doctor, but we knew in our hearts that's what it was.  And pretty soon we started thinking back to all those moments when we said "man, look at him looking around the room, he's so curious"  Nope, not curious, okay well maybe curious, but all that looking around the room was his eyes not being able to focus.

The week went by slow, very slow.  Finally Friday came and we visited with the doctor at Oakland Children's Hospital.  I should mention that at this point we'd already determined that no matter what this doctor told us, we wanted a second opinion.  I quickly scheduled something with the doctors at UC Berkeley's Infant and Toddler clinic for the end of the month.

As soon as we walked into the ophthalmologists office I just didn't feel right.  I knew this doctor wasn't going to be the one for us, but we still needed to find out as much information as we could.

About 30 seconds into the appointment she said "yep, he has nystagmus"  I'd like to say it was like getting sacked in the stomach, but really we had been prepared to hear that, so it more just reaffirmed what we already knew.

Beyond the diagnosis of nystagmus she wasn't able to determine much.  She said he has no refractive error (which is good and bad), and his optic nerves look good.  He is able to follow objects but how much he can really see is unknown.  She looked at his retinas, twice, and told us that the looked okay but slightly suspicious; he may have optical albinism.  Optical albinism reduces the pigmentation of the retinas and possibly the iris, though Jesse's iris's look good.  It can lead to severe reduced visual acuity and depth perception.  The other possibility is that he just has nystagmus and that his vision is fine.  Well not "fine" but fairly good.

Unfortunately this doctor couldn't tell us much more than that and sent us away with a directive to come back in a month.

Now a few things.  Why could it be bad that he has no refractive error?  Because that means that no matter what, glasses will not help him.  He can see just fine, it's the signal getting from the eye back to the brain that is having trouble.

How bad is his vision?  In short, we don't know.  We do know that it is good enough to track objects.  It's good enough for him to start to balance standing up.  He can reach out for objects and mostly grab them.  He can start to wiggle his way across the room to objects that he sees.  He can also tell if you are smiling at him because he will smile back, though he's not looking directly at you (which is really heart breaking).  But how well he can see those objects or your face is just unknown and we won't know for some time.  Part of it is development at his age, only 5 months old, the other part is that he simply can't tell us.

In short, we weren't impressed with the first doctor.  Not only did I know more than she did about a condition I'd only learned about a week earlier, but she immediately told us there were no treatment options and that he'd probably have to have vision therapy, large print books, and help in school.  I am very glad that we took the initiative to look up a second doctor and I am excited to see if the infant and toddler clinic has more information for us on what could be causing his nystagmus.

At this point my every waking moment is dedicated to my kids and as soon as they sleep I'm up researching everything I can about nystagmus.  Life has taken us on a journey that we are completely unprepared for, but I know we will make it through.  I will do everything that I need to in order to give my little boy, and BOYS, the most normal childhood and life they can have.

Part II: Treatment Options