It’s been a long while since I have posted an update about Avery’s vision, so here goes it. Avery has been wearing glasses for almost two years now and continues to do well with them.  She has a regular pair that is tinted and then a very dark pair that she uses as her sunglasses.  Avery’s vision hovers around 20/250 and 20/200 when using both eyes bilaterally.  About a year ago the eye pressure in Avery’s right up started to go up so we monitored it for a few months.  It continued to be high (mid 20’s) so we decided to start her on an eye drop once an evening to reduce the pressure.  The pressure immediately dropped to the low teens and has stayed in the teens since she has been on them. Avery is still patching…going on five years now, which is hard to believe!   She patches daily alternating daily between the right and left eyes for a total of 2 hours a day. Avery really likes her glasses and knows they help her to see.  She had purple frames up until August of this year, in which she switched to pink frames!

Since having glasses, Avery has fallen three times while outside and landed directly on her glasses…the glasses have protected her face for the most part but each time has sent us into panic mode as the process for getting new glasses has proven lengthy. However, it is improving as we continue to search and find optometrist with labs that have the capabilities and experience making lenses with her prescription.

Harper went from saying a few words to literally saying everything overnight.  It’s crazy…..she knows what everything is….it is just so amazing to me because it isn’t like she learned all those words overnight and then said them the next day upon learning them.  But her little mind had been storing all that information and finally one day she just decided, I’m going to blurt out everything now.  She has even started to put two words together sometimes…often the word “mine” is one of those words.  She is still the happiest, cutest, smartest, funniest little girl and we all adore here.

Today I took all three girls to the ophthalmologist by myself.  I was a little nervous about it, but they were angels.  Emerson and Avery both had appointments and Harper came along for the ride.  Avery and Emerson took turns sitting on my lap when it was their turn to be examined.  When it wasn’t their turn to be examined, Avery and Emerson both sat with Harper…holding her hand, giving her a boost, asking her if she needed anything.  They are both so great with her…they are constantly making my heart smile.

On the way to the ophthalmologist, I was having a conversation with the girls and I asked Avery and Emerson if they knew what a twin was.  Emerson responded “yes”.  I asked her what it meant to be a twin.  She said “to be happy”.  How awesome is that.  I posed the question to Avery and Emerson because I’m not convinced that they know that they are twins and after my conversation with each them, I’m still not convinced.  I think the fact that they have a younger sister who is so close in age they tend to focus on the fact that they have two sisters.  We generally do not refer to them as the twins, although we certainly do not intentionally not use the word twins.  I really think they define themselves already more as individuals with two sisters.  My girls fascinate me and I hope this fascination and admiration for my girls always is a defining factor of me.

Since September’s Avery’s eyes have been irritated more frequently than in the past and truthfully too often.  Her eyes (usually the right and left at different times) would get irritated to the point that she would squint her eyes so much that they were barely open.  We would usually end up taking the contact out and treating her irritated eye with Vigamox for three days as it often would stay red for an extended period if we didn’t do the Vigamox treatment.  Meanwhile she would be without a contact (sometimes even two) for days at a time.  This was problematic especially on days where she had pre-school or ballet.   We were also finding that her eyes would often become irritated again within days after clearing up.  While Avery does navigate fairly well even without her contacts in known spaces, she is for the most part navigating with her other senses.  After visiting with Dr. Sideman and Dr. Ellis a few times, we came to the conclusion that the chronic irritation and redness may be a result of the contacts themselves.  We tried a fresh pair but the irritation still continued even with the new pair. That left the doctors and us to realize the best course of action was to switch Avery from contacts to glasses as the irritation was likely being caused by a new intolerance to the contact lenses. 

The process for prescription glasses has been a long one so far.  Avery’s prescription is so strong (+19 in glasses) that some options that would have been available for standard prescriptions were not available to Avery.  Since Avery is extremely light sensitive, we needed Rx sunglasses in addition to regular glasses.  We were originally going to have Avery get transition lenses so that she would only require one pair of glasses; however, transition lenses aren’t available for her prescription.  Thus we had to get two pairs of glasses….one for indoors and one for outdoors.  We ordered Avery’s glasses two days before Christmas and to date received her Rx sunglasses one week ago, yet we still haven’t received her regular glasses. The process has been long – Avery’s strong prescription made the ordering processes including the options and the timing complex and long.  For the past week Avery has been wearing her sunglasses all the time (even indoors) and she seems to be adjusting quite well.  Her regular glasses are supposed to be ready by tomorrow (although we heard the same thing last week) and while I think it is going to take some initial adjustment as she has not been exposed to light without sunglasses for a few weeks straight, I’m hopeful that she is going to adjust well to her regular glasses.  We ended up including a slight tint in her regular glasses so hopefully that will help with Avery’s light sensitivity some.  Since Avery has been keeping her sunglasses on all the time (with the exception of sleeping and bathing), myself, Justin, or Karolin have been around to take her glasses for safekeeping.  She knows she can see better with her glasses so I think she will take decent care of her glasses; however, she is only three and I am concerned with her accidently misplacing or being too rough with the glasses mostly when she switches from her regular glasses to sunglasses (i.e. when they go outside at school).  Her teachers have been great and I’m sure they will try to keep a close eye on her; however, there are two teachers for 12 students, so there is only so much they can do. Speaking of Avery’s teachers (Ms. Kristen and Ms. Denise), they are wonderful.  They have made some simple yet very helpful accommodations for Avery in coordination with her vision and occupational therapist (i.e. marking her coat and school bag spot with an blue “X”, providing her a copy of the book read during circle time for her to personally look at).  Both Avery and Emerson love Ms. Kristen and Ms. Denise (and even Ms. Marnie).  They love to play make believe at home and will often appoint themselves or someone else to be Ms. Kristen or Ms. Denise.  We couldn’t be happier with VPC Pre-school.  Anyway, back to Avery and her Rx sunglasses.  Here she is!

This past Sunday Justin and I drove to Ohio to take Avery to see Dr. Hertle.  I think we always kind of knew at some point that was in her plan, but it always seemed so far away and it is hard to believe that the appointment has already come and gone. We left on Sunday right after lunch…just me, Justin, and Avery…so sort of like a vacation in a sense being that we only had one kid…lol!  The drive to Ohio was only 5 ½ hours…for some reason I had thought it was much longer than that.  The drive was absolutely beautiful, especially the first 3 hours. I had actually never driven those roads before so I was probably expecting normal highway conditions but for the most part it was a two lane not heavily traveled road through mountains and picturesque scenery that looked like it came straight out of a book. We could not have picked a better day of the year or a time to do the drive.  I truly mean that as even the drive back was not nearly as gorgeous as the drive there as MANY of the trees had already begun to lose their leaves.  The fall foliage coupled with the natural scenery was just breathtaking.  Justin was driving and I know he wanted nothing more than to be able to take pictures of it ALL!  Sadly, we didn’t take a picture of anything.

We started talking to Avery about the appointment a few days prior and she understood that she was going to see Dr. Ellis’s friend Dr. Hertle and he was going to look at her eyes.  (It is just so crazy how much kids understand from an early age especially when it comes to a medical condition.)  The appointment itself went well.  We were there for about 3 ½ hours.  We first met with a nurse, and then Dr. Hertle for the initial consultation.  Avery then had three types of testing done.  The first was done by the nurse and Avery was presented with white cardboard slides that had zebra stripes on them with increasing degree of difficulty in identifying the striped zebra lines. They did the test three times…once with both eyes open, and once with each eye patched.  It was determined that with contacts and using both eyes, Avery’s vision is actually not that much worse than the average child her age.  When utilizing one eye at a time, her vision further decreased, but that is typical for any child when one eye is covered. The second test was an Eye Movement Recording (EMR).  This was interesting as Avery was supposed to sit still for this as she looked at images on a screen (Elmo, Big Bird, Ernie, etc.)  While she cooperated, she was a 2 year old cooperating and kept moving her head, but the doctor said he got what he needed…hopefully he really did.  The third test was a Visual Evoked Response (VER) which electrodes were attached to Avery’s head as she watched a red dot on the screen. The red dot was covered by spiders on a stick that Justin had to use to entertain Avery to keep her eyes focused on the red dot. We made up every story we could think of with the spiders…they went to the park, to the grocery store, to the park again…it was quite comical…it kept Avery’s attention though and that was all that matters.  Even when we got back home, Avery was still talking about the test and the button (electrode) and the spiders (red dot cover up).

After those tests were performed, Avery’s eyes were dilated and she was further examined by Dr. Hertle.  Dr. Hertle basically confirmed a lot of what we already knew but we probably needed to hear again by him.  With regards to her diagnosis, he feels that the small eyes alone were enough to cause the nystagmus as the first few months of a child’s life are crucial in visual development and with a lot of the components of her eyes just being a little smaller (optic nerve, cornea, retina, pupils, etc.) she didn’t have the “camera” that she needed to develop normal eyesight.  He further said she would have likely developed the nystagmus even without the cataracts just as a result of the small eyes. He said that her eyes basically stopped developing at 6/7 months in the womb.  He felt that her care to date has been great and that she has been seen by some of the top doctors in the country.  He said that her eye sight will continue to improve even into her teens and her nystagmus will become less noticeable and the physical appearance of her eyes will likely get a little bigger as well.  With regards to the next step, he does feel that she will benefit from surgery; surgery to correct the strabismus, but also the nystagmus and the null point (those would be improved…not necessarily corrected.) Previous doctors have also told us that the nystagmus surgery can be done as part of the strabismus surgery by cutting additional muscles.  Dr. Hertle has been the first person to suggest that Avery does have a null point.  He feels that her constant head down, lid down position is in part due to light sensitivity but more so due to the fact that when her head is in that position her eyes move less in that position….thus her null point.  Dr. Hertle suggests operating on the null point as well although he was up front that the measurements for the null point portion of the surgery are small, medium, and large and because it isn’t exact as well as the fact that children’s null points can change during child hood, he said 20% of children will require a second surgery.  (Personally I think the statistics are even higher than that based on the persons that Justin met at the ANN Conference this summer). Dr. Hertle said the important piece was getting Avery to see him to have the tests run so he can determine the type of nystagmus.  He said he would happily do the surgery, but also happily work with another doctor who could perform the surgery.  He would just want a follow up again at his office at some point so he could redo the tests to determine the results of the procedures. Dr. Hertle also said that he would suggest surgery sooner than later but sooner could be anytime within the next 9 months.

Avery was very well behaved not only at the appointment but all weekend.  She did great in the car and each way slept for 2-3 hours and the remaining time was content to hold her blankie, her baby, her paci (yes, I know I need to take that away soon), sing, and talk to Mommy and Daddy. She was constantly on the move in the hotel room and we had to keep reminding her to stop dragging her blankie on the floor.  We let her jump on the bed as part of the hotel experience (she only fell off once and to be precise she wasn’t jumping at that time).  She even went to bed without any pushback despite the fact that she was in a pack n play and Justin and I were right there in the room.  The second night we even rewarded her with ice cream for being so well behaved at the doctor appointment.

The visit to Dr. Hertle was well worth it.  I think we are leaning towards Dr. Repka doing the surgery and probably sometime this spring.  We need to get some things squared away at home first and think more about the surgery and further questions to make sure we are fully prepared and educated. But I don’t think we feel too rushed to do that and I also don’t feel overwhelmed about the outcome of the appointment.  It was further validation that Avery’s condition is random and not genetic in the sense that Justin and I passed it down to here.  Furthermore, Dr. Hertle said Avery’s chances of passing it along to her children are even less…for example 1 in 25,000.  And the truth is we don’t need any doctor to tell us Avery is going to be okay.  A lot has changed since Avery was 3 months…at 3 months we were wondering if the cataract surgery was truly successful….at 6 months we were wondering if Avery could see….and at 2 years and 3 months, Avery has proven that not only can she see, but also that she is independent, smart, competent, loving, and quite the comedian.  

The weekend of July 12 Justin flew to Orlando, Florida to attend the American Nystagmus Network (ANN) Conference.  The conference is held in various locations every other year and a few months ago we decided Justin would attend solo this year on behalf of our family as I would be 8 months pregnant at the time.  Justin was only 1 of 3 attendees who attended solo and while he said there were some awkward moments, he definitely thought the conference was well worth it and came home feeling encouraged.  The conference started Friday evening with a breakout session.  Justin attended the one for parents of kids with nystagmus followed by a dinner event which was really just networking for a few hours.  Saturday morning started with Dr. Hertle as the Key Note speaker via Skype followed by three breakout sessions throughout the day and again a networking hour in the late afternoon.  The breakout sessions were all excellent topics and we wish Justin had been able to attend all of them.  However, choices had to be made so we decided it would be best for Justin to attend the Everyday Living With Nystagmus, Building Confidence in Children, and Teen Panel sessions.  Justin took good notes even though I wasn’t able to attend, I felt that our whole family did and really will benefit from Justin’s attendance at the conference.  Justin got a chance to meet others with nystagmus and parents of children with nystagmus.  He even came across two sets of twins where one twin had nystagmus and the other did not.  He got to hear first hand the personal experiences of children with nystagmus and their parents.  Justin was really encouraged to hear and see that most the children really did thrive.  Yes, nystagmus is a challenge but it is not a limitation, just a challenge and ALL kids have challenges in some shape or form.  

Some of the children had had surgeries to correct their null point and dampen their nystagmus while others had not.  Some kids and parents felt that there was some improvement but overall nothing significant.  A lot of the kids who had surgeries to correct their null points had to have multiple surgeries.  And some kids eye movement was more noticeable than others.  Justin did hear that a lot of the kids nystagmus did dampen with time regardless of having surgery or not having surgery.  He also heard that a lot of the kids who had light sensitivity said that it got better over time.  Although many of the children’s experiences are similar (especially more so in the social area), I would say that each child’s experience is different (again medically, socially, emotionally).  Medically, Justin and I think the next logical step in the process is to take Avery to see Dr. Hertle, likely sometime in late Fall/early Winter.  We’re not sure at this time if we would have him do the surgery or not; however, we do think it is important to get his viewpoint on Avery’s particular case.  With regards to the social and emotional aspect, we’ll be constantly addressing them with Avery and others throughout her life and while it won’t be easy at times, I know we can handle it and I know Avery is going to be perfectly fine. Statistic say that 1 in 3000 persons have nystagmus, which is somewhat hard to believe considering I have never met anyone else with nystagmus and I had never heard of it before, and I would say that probably is the case for most.  Anyway, I do think that our family will attend future conferences as nystagmus not only affects Avery but our whole family and we are in this together as a family.

Justin took a bunch of good notes at the conference and I was going to include some of them, but after reviewing them I decided that it was more important to note here that we should go back and read not only Justin’s notes but the few material hand outs a few times a year so that we continually make sure we are putting them to practical use.  Note to self: the notes are in Avery’s medical binder notebook. 

We’ll I’m overdue in writing some blogs and I do have a good amount to report.  First Avery had a doctor’s visit at Wills Eye Institute in Philly on January 22.  Her appointment was at 11:00 so we left at 7:00 a.m., which was way better than having to leave at the 4:00 a.m. hour to make her 6:00 a.m. appointment in Baltimore a few months earlier.  Anyway, Avery is just awesome.  Justin took her out of her crib earlier than normal so she wasn’t quite ready to get up…which was fine actually because we wanted her to fall back asleep in the car which she did within just a few short minutes and she slept most the ride to Philly.  At the doctor’s office, she found her way to the play room and made herself right at home.  There were other kids in the playroom and Avery was not shy about going up to them. She really is such a free spirit!  With regards to the actual examination, Avery did awesome!  It makes me happy and sad at the time, although mostly happy.  No kid Avery’s age should be so used to being examined by a doctor, but the truth is she is used to it and tolerates it so well. 

Overall, the outcome was good.  Dr. Levin confirmed that the ERG report was essentially normal and the minor abnormalities were a technical glitch of the report.  So Avery has no retinal or cone rod dystrophy!  Dr. Levin was very pleased with the progress that he saw from exactly one year prior.  Similar to Dr. Repka, he felt that Avery’s nystagmus was a result of the cataracts and smaller eyes and optic nerves but didn’t feel it was anything further than that.  He basically said unless her development falls behind schedule he doesn’t want to see us anymore!

After the appointment, we went to the same French café that we had gone a year prior.  Last year when we went we felt the food wasn’t that good and it was overpriced.  Yet we found ourselves back at the same place.  The temperature wasn’t even out of the teens and it was windy so we didn’t want to venture very far with Avery.  We decided to give it another try but decided we would order something different than last year.  I am happy to report that the meal was much better than last year, although still not great and definitely still overpriced.  If we do have to back to Wills again, I want to visit this place again afterwards since now it is just part of the routine.

After our tummies were full we loaded up the car and headed back home.  Avery was exhausted and fell asleep for a little more than two hours.  When we were about 45 minutes from home she started stirring and woke up.  Justin and I were talking about how I was going to climb into the backseat to sit with her when all of a sudden we heard what sounded like Avery had choked.  I said Avery “are you okay?”  Not that I expected a response but I didn’t get one.  As I was crawling back I could start to smell the vomit.  Poor little thing had thrown up in her car seat!  It smelled like sour milk…it was so gross.  It didn’t even phase her.  Avery’s normal meal schedule had been off that day due to travel so she had more milk than normal.  On top of that I gave her yogurt for breakfast since it was easy to transport.  Poor little thing had too much dairy!  Justin from the front seat thought he was going to vomit from the smell.  Luckily we were only about a half hour from home by this time.  Once she was home she was happy to be able to run around in familiar territory and happy to see Emerson.  Emerson was happy to see Avery too. Emerson definitely knows when Avery isn’t around and misses her in the way that 18 months old miss their siblings:)

WELCOME TO HOLLAND

BY
EMILY PERL KINGSLEY.

c1987 by Emily Perl Kingsley. All rights reserved. Borrowed from:

I am often asked to describe the experience of raising a child with a disability – to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It’s like this……
When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland.”
“Holland?!?” you say. “What do you mean Holland?? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.”
But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay.
The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around…. and you begin to notice that Holland has windmills….and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy… and they’re all bragging about what a wonderful time they had there. And for the rest of your life, you will say “Yes, that’s where I was supposed to go. That’s what I had planned.”
And the pain of that will never, ever, ever, ever go away… because the loss of that dream is a very very significant loss.
But… if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things … about Holland.

I found this poem probably close to a year ago on one of the social network sites on nystagmus.  It was this time last year that Avery was diagnosed with nystagmus. We went up to Hopkins knowing that nystagmus was a possibility since she really hadn’t started focusing since her cataract surgery at 5 weeks and her eyes seemed to be in constant motion for the last few weeks.  I remember the visit vividly.  We drove home that night with so much uncertainty.  We were told Avery wasn’t blind but at the time I think we felt that she wasn’t far from it.  How could this be?  This wasn’t what we signed up for.  We signed up to have two perfectly healthy children.  This wasn’t supposed to happen to me.  These were just a few of the thoughts that were running rampant in my head.  We went home that night to our condo where my parents were awaiting our arrival.  We told them of Avery’s diagnosis and the tears began.  The truth was nystagmus is not actually a diagnosis; it is a symptom, which meant we still didn’t really know her diagnosis.  We were going to have to schedule a MRI and possibly see a geneticist specializing in small eyes.  I ended up taking the next day off of work; I just wasn’t ready to go back especially considering it was a Friday.  And that is when my research began.  

The internet is equipped with so much information.  You can’t believe everything you read, but if you understand that the internet can be a wonderful place for resources.  RESOURCES = KNOWLEDGE = POWER.  I have found that there are SO many eye disorders out there and SO many of them have so many of the same symptoms and so many of them are diagnosed by an ophthalmologist looking at the patient’s eyes (talk about scientific)! 

Over the past year we have had more doctors appointment than any little baby should have EVER and we have seen many doctors and specialists, and to this day we still don’t have an official diagnosis. Avery had her first ERG done January 31, 2012 at Will’s Eye Institute in Philadelphia.  She had it performed while awake and the results came back as showing mild cone abnormalities.  Overall, the doctor’s felt it was inconclusive and that we should have the test repeated after Avery turned one.  So on November 6, 2012 Avery had her second ERG performed at Wilmer Eye Institute at Johns Hopkins.  This time she had it done under anesthesia so that her doctor at Hopkins, Dr. Repka, could perform a full eye exam at the same time.  He told us the preliminary findings of the second ERG was that it was NORMAL!!  It showed Avery had NO cone or rod abnormalities, so that ruled out ACHROMOTOPSIA (which I was certain she had for awhile) and all other cone/rod dystrophy’s.  Since Avery is developing normal and her MRI came back as normal, Dr. Repka feels that it is limited to her vision.  He basically felt that her cataracts were the cause of everything else (nystagmus, dilated eyes, small eyes, photobia, etc).  This was good news….

Until we received the formal write up of the procedure from Dr. Repka  While we have known since Avery was only a few months old that she had small optic nerves and her eyes are a little smaller than normal, this was the first time I had ever had a doctor use the work hypoplasia….optic nerve hypoplasia.  In it’s most basic terms optic nerve hyspoplasia (ONH) means small or under developed optic nerves.  However, ONH is often associated with several developmental brain abnormalities; midline brain structures including the pituitary gland. And if the pituitary gland is abnormal, growth hormone deficiency may result in delayed growth and development of a child.  So obviously I wanted to know does Avery have ONH because nothing indicates that she does.  A few weeks later I asked Repka and he did not want to give her that diagnosis; however, as her mom I want better answers.  At the same time I asked Repka about the official ERG report.  Well guess what it HAD come back with minor abnormalities in the cones of both eyes and the rods of the left eye.  What in the heck does this mean?  Repka wasn’t certain if there were any implications because of this or not.  So once again I found myself confused and wanting more answers.  Is Avery’s case really that rare?  I have done TONS of research and think that the answer might be yes but I honestly don’t know.  What I do know is that I think it is time to get some more expert opinions.  I want to take Avery back up to see Dr. Levin in Philadelphia.  I plan on contacting him via email in the next week first but I have to work on my email so that it captures his attention.  And while we still don’t have an official diagnosis, and may not for awhile Avery clearly has nystagmus and in my opinion strabismus (her eyes have been misaligned over the course of the few months).  Nystagmus can not be cured but there are options to improve it and strabismus can be corrected.  The visual systems most critical period is between 0 – 6 months of life and then after that a child’s visual system continues to develop until about age 8.  I’m on a mission to connect Avery with the right doctors…they are out there, I just need to find them.  While I don’t want her life to be about doctors and finding an official diagnosis, I think it’s important we do a little more at this point in time to get some answers.  I hope to have a plan of action in place in the next few weeks.