Two Months Post Eye Muscle Surgery

Yesterday was exactly two months since Makayla's eye muscle and strabimus surgery!  We can still expect her eyes to improve over the next several years, as is typical with nystagmus, with or without the help of surgery.  However, the two month mark is significant because it means her healing is complete and the change to her nystagmus, as a result of the surgery, should be most apparent now. 

Here are the videos for comparison:

The night before surgery

One week post op

Two months post op, fully healed



The videos aren't as good a representation of the change in her nystyagmus as I wish they were.  The first video was taken the day before surgery, after a very long and exhausting trip from San Francisco to  Ohio, that left her tired and in a "spaced out" state, which significantly quieted her nystagmus.

From the videos, the most notable difference is the uncrossing of her eyes.  When I look back at pictures and video, I am shocked that several doctors told us her eyes were not even crossed.  That has probably been the most significant change in her vision also, as he biggest area of improvement seems to be her depth perception.

From the first week post op, to her most recent video (taken today), you probably see that her nystagmus actually looks a bit more wild, and I would definitely say that is accurate.  Over the last week, maybe two, we have notice quite a bit of pick up in her nystagmus, whereas, in those first two weeks ofter surgery, it was almost unnoticeable at all.  I am hoping the increase in the movement is a result of the stress of being in a new environment.  Since we moved her, Makalya have been surrounded by new people and environment and has been showing some serious signs of anxiety.  She has also had an ongoing upset stomach that we are trying to figure out.  Is it the stress, a food allergy?  We aren't sure, but something like that may very likely cause her nystagmus to act up.  As she calms down over the next few months and we sort out the cause of her stomach issues, I will have to take another video of her nystagmus to share to compare.  We will also be going back to Ohio, next year, so that Dr. Hertle can preform her tests again, which will give us a better idea of how much her vision has actually improved.

New Teachers, New Therapies

On Tuesday, we had the coordinator for our local early intervention services come out to our home with Makayla's new teacher.  They went over all her usual background info and we read over the paper work from Makayla's old teachers, and they did a quick assessment to gauge what progress she has made in the month that we have been here, and since she was last seen by her old teachers.

According to her assessment, she is is falling right in line with her adjusted age (based on her prematurity: 19 1/2 to 20 months) for her gross and fine motor skills, but is more in line with a child that is 14 or 15 months when it comes to speech.  They said that over the next six to twelve months they would like to see her gross and fine motor skills catch up with her actual age, and we will begin speech therapy as well.  We are also working to get Austin speech therapy, and it looks like we'll be able to combine his services with the ones Makayla is already getting, so we'll have the same teachers and either a longer session, or more frequent sessions.

I'm happy to share that I really love her new teacher.  She calm, and kind and patient.  She was good at getting my very shy little girl to interact with her and feel comfortable.  I still don't think anyone can possibly replace the wonderful teachers we had before (yup, crying again!), but I feel confident that she will give Makayla everything she needs and be someone I'll enjoy having in my home each week.

From the sounds of it, the new town we live in has amazing schools.  Living here, Makayla will have services available to her that are a lot harder to get in any of our neighboring towns.  Something that will be new for us, is that starting at about 24 months they like to bring twerp and mom into a class room environment (I think they said once a month) for new experiences and social interaction. 

We'll officially start our sessions next week.  I am looking forward to getting to know Makayla's new teacher better, and see what new things she teaches us.

Recovering + New Environments

Exactly One Month Post Nystagmus Surgery - 9.2.12

It's been over a month now, since Makayla's surgery, and obviously we are long overdue for an update on her recovery. 

Makayla's recovery has been as smooth as can be.  Since those first two weeks, her eyes have been totally clear of any redness, with the exception of just the slightest bit in the very corners, which continues to fade a little bit more every day.

We noticed right away that she stopped using her old, head back tilt, null point, and that her eyes are working together now.

Before the surgery, the biggest challenge for Makayla, visually, was her depth perception.  Early on, she would simply not go beyond a certain point if she didn't know if there was a step.  I remember being a friend's house when she first learned to walk, and she was happily walking in the living room with the rest of us, but would not follow her brother into the next room where the floor changed from hard wood to tile, because she would not tell if there was a step.  Something like this would make her very frustrated and anxious.  However, eventually, she learned that she would turn around and crawl over it backwards if there was a step and she would do this over everything, from cracks in the sidewalk, to a simple doorway.  But not since surgery!

Three weeks ago, we moved to a new house now, in a new city, so she has been stripped from all her learned familiar places, and yet she is braver and more coordinated than she ever was in the old house and has a new found confidence.  In the three weeks that we have lived here, I have not seen her get down and crawl over an area once.  We have a small step from our house to our garage, and she proudly steps out without hesitation.

October 2, 20102, will mark the two month period since her surgery.  That is when the doctor said we should see the full result of surgery (although, her vision will likely improve more with age).  I will post a new video then to compare to her pre-surgery video.

A Difficult Goodbye

Today, Makayla's Vision and Physical therapist came for the last time.  There will be new therapists when we get to the new house in Southern California, but I find it hard to believe that we will find a pair as amazing as these two warm, kind, loving, generous and smart women.

I managed to keep the tears at bay during the visit, but they are flooding in now. 

I have gone on an on about these wonderful ladies in the past and their impact on our lives, but now that we have had our last visit, I can't stop thinking about all the progress that they have helped Makayla to make in the last year and a half.  When they started visiting out home, Makayla was just four months old, and she could still hardly hold her head up and she was keeping her arms up in the air to balance herself.  It was only a few weeks after we had been visited by the Blind Babies group, and had just learned that Makayla even could see at all.

Within a few short months, Makayla was holding her head up and not using her arms anymore.  She had started "army crawling" and we were learning all kinds of things about the way that Makayla sees.  With each visit she made huge strides and we were coming to learn that she actually sees quite well.

But, they have been so much more than therapists and teachers.  They have been friends, a support team and an extra set of moms.  They helped Makayla to take her very first steps and we all cried together as we scrambled for the video camera.  They have talked me through some of my hardest weeks and stages as a new twin mom.  They taught me to sing songs other than the ABC's, and their hand motions.

They have given me amazing tools, and taught me wonderful lessons.  They made me feel normal when I was at the end of my rope.  They laughed with me, they have cried with me.  They taught me the questions to ask, and guided me down all the right roads.

I am so grateful for everything, and will miss them so much.  Although it won't be the same to not see them on a regular basis anymore, I hope that we can stay in touch and they and are forever a part of our lives.

Little thank you gifts for our Vision and Physical Therapists

1 Week Post Op

One week post eye muscle surgery

Today is one week since Makayla's eye muscle surgery to improve her nystagmus and correct her stabismus (lazy eye).

I am really impressed with the amount of healing she has done in just one week.  After surgery, the doctor told us that it could take 6 to 8 weeks for the blood in her eyes to clear up and to really see the results of the surgery, but the blood in the whites of her eyes is significantly reduced now, and just yesterday, I started to really see the difference in the movement of her eyes.


At this point Makayla seems to be in no pain.  I would actually say, she seemed to no longer be in pain by day three or four, but we have continued to give her tylenol every four hours to be sure.  however, yesterday afternoon, we gave her, her last dose of tylenol, and she hasn't had any since.  She slept all the way through the night and woke up a happy little girl. 

We have noticed that she is exceptionally tired though.  This girl normally never sleeps, but since the surgery, she could probably stand to return to two daily naps and still get a full night's sleep.

The comments and stares I wrote about last time, continue to bother me, but it just makes me grateful that we did the surgery now, before she's aware of what other people think of her. 

On a much happier note though, while I was shopping with my sister-in-law yesterday, we stopped into a store that I have visited with the kids a handful of times, and one of the ladies that worked there asked of Makayla's eyes were okay, since she noticed the bloody corners of her eyes, and my sister-in-law explained that she recently had surgery on her eyes.  Immediately the lady remember her as the girl who's eyes moved a lot back and forth, and pointed out a noticeable difference in the movement.  My sister-in-law actually had to point out to her that Makayla's eyes still to move, but thanks to the surgery, they will hopefully move a lot less from now on.  That felt pretty good!

Home Sweet Home

Since Dr. Hertle was kind enough to come into his office on a day when he was working out of town, just to see Makayla for her follow up appointment, we were able to get home almost a full week early!

Our flight out of Akron left really early on Saturday morning, and we had a flight delay at our layover in Denver, so it was a really long trip home, but Makayla was wonderful.  Even though she showed no signs of being in pain, I kept her on Tylenol and Codine to keep the pain at bay throughout out flight, and she slept the whole way home.

I have to admit though, it was had for me to handle the stares and reaction we got from strangers about Makayla's eyes.  One woman pulled her child away from us and asked if Makayla had a bad case of pink eye.  But, most people said nothing at all and just stared.  One woman started the whole time she walked towards us, and then turned around and stared even as she passed us.  The whole way to Akron every single person told me how adorable Makayla was and what a sweetheart she is, but it broke my heart to get such the opposite reaction on the way home.  I know that her eyes are a bit startling...but she is still my beautiful, sweet, fun baby girl!

There was one person that was excited to see us though.  When we were waiting to board our second flight, I was kneeling down with Makayla when I heard tennis shoes squeeking on the tile airport floors.  When I looked over to see, it was this adorable little girl running our direction and her mom and sister right behind her.  She was smiling and ran right up to Makayla to say, "hi."  When her mom came up, I quickly explained that Makayla had just had surgery, so that she wouldn't be startled by her eye, and she asked about her surgery.  I explained that Makayla has something that causes here eyes to always jerk back and forth, and she asked if it was nystagmus, and pointed out that her daughter, the one that came running up to meet Makayla, had nystagmus too. 

My flight was boarding so we only had a few minutes to chat, but I explained how we had traveled from California to Ohio, just for this surgery and to see Dr. Hertle, and she was very interested.  She said, "Obviously we were meant to meet today" and she took my phone number.  I hope she calls and we can share some information!

Now that we are home and trying to get back to our normal routine, I realize that Makayla is probably in more pain that I realized before.  We are keeping Tylenol in her, every four hours, and codine at night when the pain gets a little worse, and to help everyone get a little more sleep.

As of this morning, four days post op, her left eye is noticeably better, and the blood in her right eye (which was her lazy eye) seems to have spread a little but is not as dark, this morning.  The swelling on her lids keeps going down, but her dad pointed out this morning that the top lids are still swollen enough to give her a "sleepy" look.  All in all, I'm pretty impressed with how much healing we are seeing in just one week!

4 Days Post Op

Nystagmus Hours After Eye Muscle Surgery

Here is a video I took of Makayla's eyes just hours after her surgery.



The nystagmus is very quite here, and I think that is due to the medicine, as it seems a bit more active today.  Dr. Hertle said we can expect to see the full results in two months.

Surgery & Post Op

Wow, the last 24 hours is such a blur.  I hope I can remember everything I want to share!

The night before surgery was a rough one for me.  I am so grateful to have a bed and the Ronald McDonald House, but man are they uncomfortable!  I got roughly three hours of sleep that night.  Something about sharing a twin air mattress with a one year old that makes for a terrible night's sleep!

Makayla slept pretty good, but couldn't eat that morning, due to her surgery, so she was extremely cranky, so I headed to the hospital early in hopes that the new surroundings would be enough of a distraction to keep her pleasant. 

It's a good thing we got there early, because on our way in to the hospital, there was a Indy Car sitting out front and lots of important looking people.  I paused for a minute to see what was going on, since my husband is a big race fan, and before I could even take it all in, they invited Makayla to sit in the race car and we got to meet one of Indy Car's drivers, Robbie Buhl, who autographed a hat for Makayla.  He was there are part of the Racing for Kids program.

While all this was going on, I got to talk to a nice woman from the hospital noted that we were from California, and told me about all the different places all over the world that patients come from, just to see Dr. Hertle, some as far as Bangladesh and Taiwan.  Yup, that is why we came too.

I found all of that very exciting, but Makayla was a less enthusiastic because of her empty tummy.  Once we got into admitting and to our room, things moved very quickly.  Dr. Hertle came in to see us, and answered all of our last minute questions. 

I'm not sure if he just had great notes from our last visit, but I felt like he really remembered everything about our visit in April and was excited to see my little girl again.  After visiting with all the doctors and nurses that would be a part of her surgery, a very nice doctor took her in his arms, along with her favorite stuffed animal, Violet, and back into surgery.

It must have been all the friendly doctors and nurses, but I was remarkably calm for the first hour and a half of her surgery...after that the anxiety kicked in.  I stress-ate a slice of sausage pizza, and two bags of peanut M&M's before Dr. Hertle came out and told me that everything went beautifully.  He sat with me for a while and answered all of my questions.  He said that there is only a five to ten percent chance that Makayla will ever need another surgery like this.

While Makayla was under, they also did her ERG.  As we expected it confirmed the hypopigmentation in her retina.  Along with her transillumination and nystagmus, it indicates that she has albinism just as Dr. Hertle and Dr. Alcorn (our pediatric ophthalmologist at Lucile Packard Children's Hospital at Stanford, back home) expected that it would confirm.  The ERG also confirmed that everything else about her retina is normal and healthy.  Dr. Herlte, says that the hypopigmination and transillumination are mild, which is good news.

About two hours after they took her away to surgery, I was able to join her in recovery.  She was still very groggy from the medicine, and just wanted to snuggle.  When she opened her eyes, they were perfectly still.  I knew it was the medicine, or the shock of surgery, and that it wouldn't last, but it still make me cry.

Once we got back to our room at the Ronald McDonald House, she was starting to feel some pain.  We got her loaded up on pain medicine and ate chocolate chip cookies for dinner.  Except for a few breaks for juice, she slept pretty much all the way through to morning.

This morning she woke up happy and eager to eat.  She has been a little tired, but is playful and silly.  She hasn't needed anything more than Tylenol to manager her pain.

Originally we were going to be staying through next Friday because Dr. Hertle would be out of town and not able to see her until then.  But during our talk after her surgery, he offered to come in after working in another city all day, to see her for post op today, so that we could get home much earlier.  I am so grateful and we'll be heading home early tomorrow morning!

One Day Post Op

During her post op appointment Dr. Hertle was really please with her results so far.  He says that her eyes are lining up very nicely, and noted that she is no longer using her chin up head tilt to see anymore.  He said that we will see the best results in about two months from now.  Her eyes should also no longer have the crying vampire look (His words, not mine.  I think the doctor is a True Blood fan) by then.

He would like to see her again in the next six to nine months so that he can retest her eye movements and everything, to measure her progress.

I took a video of her nystagmus last night and will post it once we get home since the internet service here is so poor.  I will continue to post updates on the state of her eyes, and her nystagmus as she recovers.

A huge thank you to everyone who has been so supportive.  Not just our amazing close friends and family, but people that are friends of friends, and perfect strangers have been amazingly supportive and offered so many well wishes.  This was very stressful for all of us and all the kind words have been so meaningful to us!  THANK YOU!

Makayla's Nystagmus Prior to Surgery

Here is a video I took today of Makayla's eyes.  This is one day before her surgery and one day before turning 20 months old.  I took this video right after I woke her up from her nap.  She was still really tired and groggy, and although, I have read that it's normal for nystagmus to get more pronounced when a person is tired, I've actually noticed that in Makayla's case, it seems to quiet it a bit.

Makayla's nystagmus can be very wild at times, and almost non-existant at others.  I have noticed some improvement over the last month or so.  I would say we have more "quiet" time than we do where it's wild.

Of course, as her eyes heal I'll post more videos for comparison.

24 Hours Until Surgery

I just got a call from the pre-op nurse confirming that surgery will start at 12:30 p. m. local time (that's 9 a.m. to all our friends and family at home) and with last meal and drink times.

We got here a full day early, because last time all of us were so out of it from the lack of sleep and the time chance that we had a hard time even remembering how to walk.  This time has been no different.  Makayla is really a terrible sleeper anyway, but she esspecially doesn't like sleeping anywhere that is not her own crib, in the room she shares with her twin brother.  We got a good 3 hours of sleep before she woke up in a panic last night and moved into my bed....where I "slept" the rest of the morning with one eye open, in fear that she would roll right out of this tiny little bed.  All in all, she got about six hours of her usual 11 hours of sleep, and I got 3, maybe 4. Compared to our trip last time, I would count that as a big success.

The twerpette is napping now, but she spent the morning making all kinds of friends.  The staff here adores her and likes to get in hugs and cuddles every chance they get.  We took a walk downtown morning to the Akron Children's Library.  It's a huge library complete with a cafe, and gift shop.  The kids area has toys to play with and a booth for putting on a puppet show.  Makayla had entirely too much fun and squealed with delight all through the very quiet library.

I'll be getting her up now, and we'll spend some time playing outside on the Ronald McDonald House patio until it's time for dinner.  Tonight we're having some chili and salad and cornbread made by the local Amish community.

Ready As We'll Ever Be

Here we are.  Little ol' Akron, Ohio. 

I hope getting here was the hard part. 

Over the last week, Makayla came down with a 102 fever.  I was so scared that we would have to cancel the surgery, but just 24 hours before leaving for Akron, she broke her fever, and we were back on!

I knew traveling with a toddler on my own would be a challenge.  I certainly know what an amazing help my husband is. and not having him here would be rough.  Our first flight from San Francisco to Philadelphia, was better than I expected.  Although we didn't arrive without tears, Makayla was mostly happy and cooperative throughout the flight.  I was lucky enough to be seating next to two model-skinny German ladies, which left me plenty of room to contort and stretch with Makayla in my lap. Our most embarrassing moments included when she threw a handful of pretzels at the man sitting behind us.

And then we got off our plane.

Once, I was off the plane, I realized that either my plane got in late, or it took the passengers more than a half hour to deboard...and I needed to sprint to our next flight, from Terminal C to Terminal F...which requires taking a an actual bus to get there.  People paid no attention to the woman with a baby and a stroller, plowing over us and pushing us right out of their way.  Once we were off the buss, I sprinted, with a backpack, a purse, a laptop, and toddler and a stroller from Gate 7 to Gate 37.  Everyone one who knows me, knows what a joke that is.  I hate running, and I'm definitely not fast!

Dripping sweat, like Dave Matthews in concert, I rushed to my gate, only to find out that there was a delay!  Ok, actually that was great news.  It was only a short delay, and that meant I have enough time to get Makayla a diaper change, clean myself up, and find some apple juice.  No time for lunch though...and we didn't get breakfast either...

As soon as I get back to the gate, we start boarding.  I'm happy to find that the person I'm sitting next to on this very teeny tiny plane, is quite possible, the nicest man I've ever met.  He is showing me pictures of his two daughters and playing peek-a-boo with Makayla.  Things are going great.  Just after take off, my new friend heads to the bathroom, and by the time her gets back, Makayla is in full meltdown mode.  It must have been her ears.  She didn't have a problem on her five previous flights, but that, combined with way to many hours of confinement, and hunger was the perfect recipe for disaster.  She kicked and screamed all the way until the pilot announced that we would be starting our final decent, at with point she finally passed out from exhaustion.  I was that mom.  I cried. 

As the passengers exited the plane, I apologized, and every single passenger told me how beautiful Makayla was and that she did great.  When I apologized they told me to stop and that they didn't mind a bit.  The ones that were near by and heard me telling my seat neighbor the reason for our trip to Ohio, all told me how they wished the very best for his surgery and offered prayers.  I burst into big sobby tears right there on the plane.

Ohio-ians are possibly some of the nicest people in the country.

Finally 13 hours into our adventure, we arrived at the Ronald McDonald House of Akron.  Before I could even get all the way in the door, another mom here to see Dr. Hertle offered to help me to my room with my things (Another example of why Ohio-ians are the nicest people on the planet!).  We talked for a bit, and I learned that her son recently had the same surgery Makayla will be having and I told her how excited I was to meet another mom who has been through what our family has been through.  Looking at her son's blue eyes, it was the first time I have ever seen someone else with Nystagmus.

My goal is to keep this blog updated over the next 10 days that we spend in Akron, so you can see how surgery went, and how she is handling recovery.  Tomorrow, i want to get a video posted of Makayla's nystagmus, as it is now, prior to surgery.

It's a little after eleven here now, but only 8:20 p.m. at home.  I just got the little girl down to sleep, and I think I will be happy to join her.

Surgery is Thursday!

Nystagmus Walk

If you follow our blog on facebook, you may have heard me mention the upcoming Nystagmus Walk a few times.  But, in case you haven't, or if you want more information, here I go again!

In April 2013, the very first Nystagmus Walk will be held in Nashville, Tennessee.  The goal of the walk is to raise money for the American Nystagmus Network, as well as raise awareness for what is a fairly common (1 in 1,000) visual impairment.

The Walk's organizer pointed out that "nystagmus" is recognized as a misspelled word in Microvsoft Word and Google.  She would like to see that changed and to raise money for research.  Some of the things that I hope raising awareness will do are:

• Make all ophthalmologists familiar with the condition, and it's possible causes and treatments.  
• I would like for pediatricians to know enough about nystagmus that they never tell another mom nystagmus means that their child is probably blind.
• I want doctors to not assume that because a child is fair and blond, that the nystagmus is because of albinism
• I want people with nystagmus to be able to get treatment in their own community without having to travel.
• I want to know that Makayla will not be made fun of in school, because kids will already know what nystagmus is.

Some of these goals are very ambitious, and may take more than one walk to accomplish, but I am so grateful to the Walk's organizer and all her hard work.  I am really optimistic about all that this walk could accomplish and what it may mean for my little girl one day!

The Nystagmus Walk has a facebook page.  Please make sure that you visit the page and "like" it to get all the important updates!  They are also currently working on a project where they need pictures of eyes.  If you or someone in your family has Nystagmus, please take a photo of your eye, and one for each person in your family and email the pictures to nystagmus.eyes@yahoo.com to be included in the project!

Welcome to Holland

Today, my friend Amy, of Through the Eyes of Liam shared a poem on her mommy blog, The Naptime Memos, which was written by a mom of a child with special needs on what it's like to parent a child with a disability.

WELCOME TO HOLLAND

by
Emily Perl Kingsley.

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

http://www.our-kids.org/Archives/Holland.html

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 know that we are very lucky that Makayla's "disability" may never actually disable her.  But this poem still hit my heart hard, and triggered those big weepy tears.  It brought me back to those first few weeks after she was diagnosed with nystagmus, and they told us that she was probably blind.  They sent us home to wait for appointments with specialists, and told us to look for her to track items in her visual field to determine if she could see or not.

I went home that afternoon and laid her on the couch and hovered over her.  I made faces and waved my hands in front of her.  I cried and told her how sorry I was.  My tears litterally fell onto her cheeks as I looked at her. 

While I waited for my husband to get home from work, I cried and convinced myself she couldn't see anything.  I tried to imagine how I could possibly parent a child that would experience the world so differently from me.  I wondered if her vision problems would cause Austin to be neglected.  I wondered how I would treat my little girl the very same as her brother, if she couldn't see or do the things he did.  I worried that she wouldn't be able to share in her father's love of baseball. 

For weeks, all those fears raced through our heads over and over.  We were convinced that she was entirely blind one hour and partially sighted, the next, until we finally had our meeting with Blind Babies in April 2011 when we finally, at four months old, were able to see Makayla track a red pom pom in front of her, and reach out for it.  ...whats the opposite of a heart break?  My heart soared and my eyes filled with tears.  We didn't know how much she could see, but at least she would know my smile.

Like the poem, I still feel like our flight was rerouted, but I can honestly say, that the pain has gotten better.  Sure, a huge part of that is that we now know Makayla sees better than we first expected, but a lot of it has to do with the amount of knowledge I have now, and the amazing connections I have make in the low vision community.  I finally have my Holland guide book, and am finding my way around.  I know what tools I need and how to get them, and I know some amazing locals.  Holland, isn't so bad!

Less Than a Month To Go

Before this month is over, Makayla and I will be on our way to Ohio for her surgery!  Our flight is booked, and our room is reserved at the Ronald McDonald House.  We'll be in Ohio for 10 days, this time, and Makayla and I will be going on our own.

I feel confident that this surgery will make a huge difference in Makayla's life, but that isn't easing any of the anxiety.  Traveling to Ohio with my husband's help, in April, was a huge challenge, so traveling with her on my own (and while she is recovering from surgery) is going to be exhausting.  Judging by how hard getting a new set of molars has been for her over the past few weeks, I am anticipating that the recovery from her surgery will be grueling.  For that reason, I am glad that we'll be stating for a week post op, rather than jumping on a plan immediately.  From what I have read, the pain is much more manageable after the first three days.

Since getting home from Ohio in April, we have been dilating her left eye in lieu of patching, in preparation for her surgery.  We have noticed that since we started doing that, she is no longer using the null point we identified months ago and that was confirmed by Dr. Hertle.  I am currently waiting on a call back from Dr. Hertle so see if this is normal, or if it's something we should look into further before proceeding with the null point surgery.  In the mean time, I spoke to a woman on the American Nystagmus Network's facebook page, who recently had an eye surgery.  She said that during the healing process she was forced to use one eye and that she identified a new unique null point for each eye when they were used independently, which was different from the one she uses when her eyes are working together.  Regardless of Dr. Hertle's opinion of her null point possibly changing, we are still going forward with planning the surgery since part of the surgery includes fixing or improving her strabismus and slowing her nystagmus, which is not related to her null point.

So much excitement, anxiety, optimism and hope!  I can't wait to see what the next year will hold for us!

A Geneticist in Our Future

We FINALLY have an appointment for Makayla to see a geneticist!  For...late November (ugh). 

During my conversation with the geneticist, she explained that it would be very unlikely that Makayla would have Ocular Albinism (OA) because it is something that is typically passed down only from mother's to their sons, and that Makayla is much more likely to have Oculocutaneous Albinism (OCA).

I was a little confused by this, because I had read and understood that Makayla could have OA if my husband and I both carried the recessive gene and that it's only passed from mother to son when the mother carries a dominant gene.  I'm a science nerd with a particular interest in genetics, so I don't typically find myself lost when talking genes, but we agreed that we'll finish this genetics lesson when we meet in Novemeber.  I am so looking forward to it!



*Here's a short blurb from the National Organization of Albinism and Hypopigmentation (NOAH) on the differences between OA and OCA and types of albinism:

Types of Albinism

While most people with albinism have very light skin and hair, not all do. Oculocutaneous (pronounced ock-you-low-kew-TAIN-ee-us) albinism (OCA) involves the eyes, hair and skin. Ocular albinism (OA), which is much less common, involves primarily the eyes, while skin and hair may appear similar or slightly lighter than that of other family members.
Over the years, researchers have used various systems for classifying oculocutaneous albinism. In general, these systems contrasted types of albinism having almost no pigmentation with types having slight pigmentation. In less pigmented types of albinism, hair and skin are cream-colored and vision is often in the range of 20/200. In types with slight pigmentation, hair appears more yellow or red-tinged and vision may be better. Early descriptions of albinism called these main categories of albinism “complete” and “incomplete” albinism. Later researchers used a test that involved plucking a hair root and seeing if it would make pigment in a test tube. This test separated “ty-neg” (no pigment) from “ty-pos” (some pigment). Further research showed that this test was inconsistent and added little information to the clinical exam.
Recent research has used analysis of DNA, the chemical that encodes genetic information, to arrive at a more precise classification system for albinism. Four forms of OCA are now recognized – OCA1, OCA2, OCA3 and OCA4; some are further divided into subtypes.

• Oculocutaneous albinism type 1 (OCA1 or tyrosinase-related albinism) results from a genetic defect in an enzyme called tyrosinase (hence ‘ty’ above). This enzyme helps the body to change the amino acid tyrosine into pigment. (An amino acid is a “building block” of protein.) There are two subtypes of OCA1. In OCA1A, the enzyme is inactive and no melanin is produced, leading to white hair and very light skin. In OCA1B, the enzyme is minimally active and a small amount of melanin is produced, leading to hair that may darken to blond, yellow/orange or even light brown, as well as slightly more pigment in the skin.
• Oculocutaneous albinism type 2 (OCA2 or P gene albinism) results from a genetic defect in the P protein that helps the tyrosinase enzyme to function. Individuals with OCA2 make a minimal amount of melanin pigment and can have hair color ranging from very light blond to brown.
• Oculocutaneous albinism type 3 (OCA3) is rarely described and results from a genetic defect in TYRP1, a protein related to tyrosinase. Individuals with OCA3 can have substantial pigment.
• Oculocutaneous albinism type 4 (OCA4) results from a genetic defect in the SLC45A2 protein that helps the tyrosinase enzyme to function. Individuals with OCA4 make a minimal amount of melanin pigment similar to persons with OCA2.

Researchers have also identified several other genes that result in albinism with other features. One group of these includes at least eight genes leading to Hermansky-Pudlak Syndrome (HPS). In addition to albinism, HPS is associated with bleeding problems and bruising. Some forms are also associated with lung and bowel disease. HPS is a less common form of albinism but should be suspected if a person with albinism shows unusual bruising or bleeding.

Morning Brain Spillage: Albinism

When Makayla was three months old, and her pediatrician diagnosed her with nystagmus, one of the first things they asked me was if it was possible that she was albino.  I laughed and just said that she took after me, thinking to myself, "can they not see how light I am?" 

My own dad (who is very dark in his skin, hair, and eyes) and I joked when I was a kid, that my mom's family was albino and that's why they, and I, were so, so, so pale (I actually REALLY hate the term pale, I prefer fair.  Pale sounds sickly, fair is just really light.).  But it was a joke!  I already knew that nystagmus was common in people with albinism, but obviously the doctors were just jumping to conclusions, because my daughter has all the same coloring as me (my eyes are green now, but were blue through elementary school and started changing in 7th grade), and I could not possibly be albino, since my eyes are green, and I have freckles, and although none of my friends would call it a tan, my skin tone does change some, when I get sun.  Although, my hair was white as a baby, whiter than Makayla's, it's now a very dark blonde, maybe even a light brown.  Obviously, I can't be albino.

But with more and more doctors asking about Makayla being albino, and now with her ocular albinism diagnosis, I'm learning so much more about albinism.  You might think of Powder or Whitey from Me, My Self & Irene when you think of someone with albinism, with the red or blue eyes, and the white hair and the translucent skin.  In fact, there are many different types of albinism and some include having some levels of pigment.  Now knowing this, I've asked doctors, if Makayla is albino, is it possible I am too?  But I'm always shut down, told that since my eyes are fine, I can't be albino, and that if I were the one with albinism that it would have been passed down to Austin, not Makayla (There is a dominant gene carried by mothers and passed down to sons, without the father having to carry a recessive gene, because Makayla is effected, and not Austin, we know this is not the case for us).

The more I read, I'm realizing that just may not be true. It really is frustrating how much information doctors just blurt out without really knowing for sure.

I was catching up on my friend Amy's blog, Through the Eyes of Liam, and was reading a post she has on Oculocutaneous Albinism.  In the post, she lists characteristics of the most common types of albinism, and I couldn't help but notice that this part, aside from the vision problems, describes me to a T:

OCA1b- A quick rundown:

White or light yellow hair at birth but darkens with age, can change to a golden or light brown

Skin remains white but often has some generalized pigmentation

Tans with sun exposure

Iris color remains blue or change to a hazel/green or brown/tan

Transillumination shows in streaks or clumps of pigment in the iris

Fine granular pigment may develop over time in the retina

Visual acuity is usually between 20/100 and 20/200 but can be as good as 20/60

Nystagmus and Strabismus is possible.

Involves tyrosinase enzyme--which converts tyrosine (an amino acid) into melanin

There are many other types of albinism, so I have to wonder if there is one that would include the first half of this description, but leaves out the part about transillumination, or maybe the transillumination improves with age, because I remember being a lot more sensitive to light as a child than I am now. I remember my eyes aching when I stepped outside some mornings.  I am just so curious...  In a lot of ways it would make so much sense, like how my dad ca be so dark, but I'm so fair, and how I don't exactly tan in the sun, I turn a sort of pink color.  It's not the same as a burn, but it's definitely not a a brown tan color.

I'm not sure what any of this actually means.  It doesn't change my life in anyway, and it doesn't change the way we go about treating Makayla, but it sure is facinating to think that you can go 30 years and not know something to significant about your self.  Regardless if I am albino or not, I probably at least carry the recessive gene, and my husband must also, in order for us to have passed it on to Makayla.

We are still waiting for the referral for genetic testing to come through.  Our pediatrician has sent a request to Stanford, but they are so backed up with referrals we don't expect to hear from them until November and then probably wont have an appointment until early next year.  That is just to see a geneticist and find out if our insurance will cover testing, which we don't think it does.  Besides wanting to know to quiet my own curiosity, finding out will help us to learn how likely we would be to have more children with albinism, and how likely Makayla and Austin are to have children with albinism.

VEPs And Stuff

Oh bloggy, blog, blog.  Did you miss me?  It's been too long!  Having this blog has not only helped me to connect with amazing moms of children with nystagmus and ocular albinism, but it helps me feel like I'm partaking in adult conversation when I'm locked in the house with toddlers for 12+ hours a day.  There is only so much, "ew, stinky poopies!" a thoughtful and intelligent person can take!  But...over the past two weeks, our normal routine was shaken up by a new, almost non-existent nap schedule, and I'm having a hard time figuring out where blogging fits back in. 

Today, we spent all of our morning and most of the early afternoon out of the house, so they are pretty happy to be home and chasing after the dog, for now.  And so, I write!

What took all morning was a visit to UC Berkeley.  Almost a year ago, Makayla's vision therapist helped us get into a research study at UC Berkley, in which they are studying how children with visual impairments learn about, and understand, the world around them.  For our participation in the study, the optometrist overseeing the study provides annual eye exams.

Makayla had her first when she was 9 months old, and we learned that she has only a very slight astigmatism, and that at that point glasses would not be beneficial.  The optometrist also preformed a VEP during that visit, which Dr. Hertle was able to use, since Makayla did not cooperate in Ohio.  The optometrist also predicted that, as her nystagmus improves (as it often does up until age 6), her vision may improve to be as good as 20/50 or 20/40.  To give an idea of how good that is, my "bad eye" was 20/40 at my last eye appointment, thanks to astigmatism, but I can still drive without any required correction.

Today, I got to share with the optometrist all about our trip to Ohio, and that we'll be going back soon for surgery.  I also shared with her that Dr. Hertle diagnosed her with a very mild form or ocular albinism.  She was very excited to hear all the news and updates on Makayla but had her doubts about the ocular albinism diagnosis...  She said that Makayla's ability to see contrast has greatly improved and that she is in the normal range for kids her age.  She said that the VEP test showed that Makayla sees quite well, but noted a new nearsightedness.  Part of Dr. Hertle's after surgery plan is to get Makayla in contacts as early as possible to help with light sensitivity and to slow her nystagmus, but since she now has a nearsightedness the optometrist predicts that by the time she is in the contacts, she will likely need a prescription.

We also did a new VEP test today, which Makayla was very cooperative and happy throughout.  The VEP test is a strange looking test where they put several leads on Makayla's head for measuring her brain waves, as she watches a monitor with various moving and flickering lines.  The optometrist explained that they are measuring her brain's response to various details and contrasts in the lines to determine how well she sees. They did the test with both eyes, then just with the left eye (since the left eye is currently dilated in preparation for her upcoming surgery), then they did both eyes at a further distance.  They will be sending the results of the exam and the VEP test to Dr. Hertle before her surgery.

The optometrist says that Makayla sees very well.  She said that her vision is "reduced by 2".  Normal would be 0 and she explained that most the kids she sees with nystagmus and ocular albinism are reduced by 6 to 10.  That being said, her depth perception will likely always remain very poor and she will always be sensitive to light, and obviously both of these things will effect her vision outdoors and in new places.  The surgery that Dr. Hertle will be doing will still help her vision.

We Have A Date!

I received a very exciting call this morning from a bubbly woman at Dr. Hertle's office.  She was very excited to tell me that they would be able to schedule Makayla's surgery for August 2nd, which is a full month or two earlier than we expected!  I pretty much immediately burst into tears on the phone, but between fake coughs, lies about allergies, and asking the twerpies to settle down, I think I came off as a mostly sane, somewhat distracted mom of twins, rather than a hysterical mess.

Makyla's appointment will be very early in the morning.  We'll have to be in the hospital at 6:30 a.m., that's 3:30 a.m. for us Californians! Her procedure will only last for about an hour and a half; however, we'll need to stay for several days so that Dr. Hertle can see her after the surgery and make sure she is doing well before sending us home.  I'm actually relieved to be staying for a little over a week, because, from what I've read, the first three days, after the surgery, is excruciatingly painful, and I will feel better if she can sleep it off in our room at the Ronald McDonald House, rather than having to spend several hours flying.

Makayla's surgery will include a Bimedial Recession, Bilateral Inferior Recession and a Bilateral Superior Oblique Tenectomy.  All those fancy words basically mean that they are going to fix her stamismus, or "lazy eye" and move her null point.

Currently, Makayla's nystagmus is quietest in the lower field of her vision, so when she is trying hard to see something she often tilts her head back considerably and looks through the bottom of her eyes.  That is her "null point."  During her surgery, they will detach, and reattach her eye muscles in a way that her nystagmus is quietest in the center of her vision so that she no longer has to use a strange looking, and uncomfortable head position to utilize her best vision.  To the left is a picture of Makayla using her current null point to look at me while I take her picture.

Dr. Hertle told us that he expects this procedure to also slow the oscillation of her nystagmus.  However, he will see her again, six to seven months after her surgery, to measure her progress and determine if she will benefit from a second surgery to further dampen the oscillation of her nystagmus.  When we saw Dr. Hertle in April, he said that he thinks we will probably do the second surgery. 

Now the planing and preparation begins!  I'm glad that although her surgery is a lot earlier than we expected, it is still far enough out for us to make arrangements and plans!

Ocular Albinism

In the weeks since Makayla was diagnosed with Ocular Albinism (OA), I have been learning so much.

In a previous post, I told you about a mom, Claire, that I had connected with from England whose son, Jack, is the same age as Makayla.  Our children are the same age we started talking shortly after Makayla nad Jack were diagnosed.  We connected over a desire to gather as much information as possible about Nystagmus and treatment, as well as the experience of being new moms.  We have continued to stay in touch and fill each other in on our unique journeys.  One of the things we learned early on was that there are very unique differences in the diagnosis and treatment of Nystagmus in the United States and England.  You can read about some of those differences on her blog, Living With Nystagmus. 

When Claire learned that Makayla had been diagnosed with OA, she helped me to connect with another mom, Amy, here in the US, whose son, Liam, has OA and is just a few months younger than Makayla and Jack.  Getting in touch and exchanging emails with Amy has been so helpful.  She is extremely positive and and optimistic and has shared so much useful information with me in the short time we have been exchanging emails.

First I want to share a page from Amy's blog, Through the Eyes of Liam, where she explains OA.  The whole time I was reading it I was nodding and saying, "yes, yes!" because it explains Makayla so perfectly!  Had I read this blog a year ago, I could have taken it to Makayla's doctors and told THEM that she had OA.  Seeing all her symptoms laid out like this, the light sensitivity, the depth perception problems, the strabismus, it makes me a little frustrated that it took a year and a half, and going to Ohio to get an actual diagnosis.

"Ocular albinism is a genetic condition that primarily affects and is limited to the eyes. This condition reduces the pigmentation or coloring of the iris, which is the colored part of the eye, and the retina, which is the light-sensitive tissue at the back of the eye. It can be seen in people whose eyes are green brown or blue though most often the iris is a shade of blue. The iris can be completely or partially transparent or could have small holes in its pigmentation. Pigmentation in the eye is essential for normal vision as it is what filters the light coming into the eye. If the pigmentation has any holes, the patient has Ocular Albinism, meaning too much light is getting in through the holes and causing some vision loss and light sensitivity (photophobia) for the patient. If the pigmentation is transparent or there is no pigmentation to block out the light then complete blindness occurs.

Ocular albinism is characterized by severely impaired sharpness of vision (visual acuity) and problems with combining vision from both eyes to perceive depth (stereoscopic vision). The vision does not worsen over time but the vision loss is permanent. Other eye abnormalities associated with OA include rapid, involuntary eye movements (nystagmus); eyes that do not look in the same direction (strabismus); and increased sensitivity to light (photophobia). Many affected individuals also have abnormalities involving the optic nerves, which carry visual information from the eye to the brain.

Unlike some other forms of albinism, ocular albinism does not significantly affect the color of the skin and hair. People with this condition may have a somewhat lighter complexion than other members of their family, but these differences are usually minor. There is only one type of OA which has been genetically linked in male children as having been inherited from their mother who would carry the recessive gene for OA. If ever OA is found in female children then either OCA (Oculocutaneous Albinism, of which there are several types) is assumed or the gene must be carried by both mother and father.

Treatment of ocular albinism includes using visual aids and environmental changes to expand the limits of vision. Surgery for strabismus is sometimes helpful, but usually does not result in fine coordination of the eyes. Surgery can improve the field of vision if the eyes are crossed, and may improve appearance and the child's self image. Currently there is no cure for Ocular Albinism.

List of issues associated with the lack of pigment in the eyes:

• Reduced visual acuity from 20/60 to 20/400 and sometimes as good as 20/25 in African-Americans,

• Nystagmus - involuntary back-and-forth movement of the eyes,

• Strabismus - crossed eyes or "lazy" eye, and

• Sensitivity to bright light and glare.



Definition from the NOAH website:

”Ocular albinism in an inherited condition in which the eyes lack melanin pigment, while the skin and hair show normal or near-normal coloration.”

Definition from Wikipedia:

”Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes.[1] There are multiple forms of ocular albinism, which are clinically similar.”"

Secondly, One of the things I found really interesting on her blog was this interesting video that was created by a woman with albinism to help describe how someone with OA might see.







Of course, there are many other things that may play a role in how someone with OA might see, like astigmatism and what not.  As I understand it, people with OA often have a very bad astigmatism which further impacts their vision.  From what we can tell, Makayla's near sighted vision seems very good, and the doctors have said that she has only a very slight astigmatism.  One doctor predicted she may see as good as 20/40 or 20/60 (for perspective, my bad eye is 20/40 and I can drive without corrected vision).  And Dr. Hertle described her transillumination as mild, so I'm hopeful that this video may demonstrate even more light interference than Makayla has.

Patching

This morning we started "patching" Makayla's left eye, to help strengthen the muscles in her right eye, in preparation for her upcoming eye surgery.

In actuality, we are using Atropine drops instead of a patch.  We use the drops in her left eye every Saturday and Sunday, to dilate it, which blurs the vision, forcing her to use the right eye to focus and drive her vision.

Personally, I am a wimp when it comes to my eyes.  I fear the eye doctor the way most people fear the dentist.  I am not exaggerating in the least when I say that at my last eye appointment (probably three years ago), it took three people to hold me down for the little air puffy test (yes, I think that's the technical term!).  And it took me until I was almost 30 to gather the courage to put contact lenses in my own eyes.  So, I was fully expecting a complete and total meltdown this morning when we attempted to give her, her first drop. I expected that it would require both of us to hold her down, and at least an hour of recovery time from the epic terror she would face..........I was WAY off!

Our little girl was calm and happy.  She quickly blinked away the drop and resumed reading her favorite story to her daddy.  And that, was that!



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High On Hope and Optimism!

It's been two weeks since our trip to Ohio, and I think it's about time I get around to sharing all about it!  The weeks since the trip have been so chaotic that this is the first time I've sat down at the computer.

On her first ever flight!

Our trip was only three days long, but two of those days were FULL days of flying.  On the way there, we flew from San Francisco to Charlotte, North Carolina and from there to Akron, Ohio.  We started our day that morning at 3:00 a. m. and did not get into our room at the Ronald McDonald House in Akron until 7:00 p. m., our time (10:00 p. m., Akron time).  And the way home was an even longer trip!  Most of the other passengers told us what an angel Makayla was and told us how well behaved she was, but I have to give my husband and myself a huge pat on the back.  We had a whole bag of tricks we cycled through, endlessly, to keep that tired little girl happy.  She was pleasant, because we worked HARD to keep her that way!  Since she is not a napper, we could not count of her sleeping through it.

I had to wonder if it would have been less annoying to listen to a baby cry for a few hours, or to hear me sing the ABC's over and over and over and over again!

By the time we got to Akron, our appointment with Dr. Hertle was just 12 hours away, so we quickly ate some dinner the at the Ronald McDonald house provided us, and got ourselves to bed.  Unfortunately, since Makayla has never slept anywhere except her crib, and next to her brother, she woke up after about five hours and did not go back to sleep...but she seemed happy, and does really well on little sleep, so Joey and I pried our eyes open with McDonald's coffee and made the best of it!

We got to Dr. Hertle's office a little early (I am so grateful to have a husband who is as habitually and ridiculously early, as I am), and they took us in right away.  We met with a nurse and a resident doctor first, and we told them all about our experience so far with Makayla's Nystagmus and the doctors we've seen.  We told the nurse that the first ophthalmologist we saw, met with us for no more than 15 minutes.  He told us that Makayla had Nystagmus, and there is nothing we can do to treat it, and she will have it all her life..."and whatever you do, don't Google!" (glad I didn't follow that advice or I would have never found Dr. Hertle or the amazing people on Facebook's American Nystagmus Network!)  The nurse's jaw dropped to the floor and she promised that we would get more information about Makayla's Nystagmus, and how we can help her and treat it, over the next couple hours, than we have gotten in the last year and a half, from five doctors.  She was right.

During our appointment, They did an Eye Movement Recording on Makayla.  The test confirmed what we have been telling Makayla's doctors all along, that her right eye is not as strong as her left eye.  He called it Esotropia, which is a type of Strabismus.  Basically, she has a "lazy eye".  This is common in patients with Nystagmus. This test also provided the doctor with a lot of other information about Makayla's Nystagmus, like how quickly her eyes move and the pattern in which they move.

He was also able to confirm that the lower field of Makayla's vision is where her Nystagmus is the quietest, and where her vision is best.  This is her "null point".  This is another thing that Joey and I have been trying to tell doctors.  Yet they have insisted that she does not have a null point.  It seems that Makayla's null point is not as quiet as some other patients with Nystagmus, so they have simply told us that she does not have one.

After the Eye Movement Recording, we attempted to do a Visual Evoked Potentials (VEP) test.  Unfortunately, by that time, our sleep deprived little girl had enough.  They sent us back to our room for a nap and some lunch and we tried again a few hours later, but to no avail.  However!  Thanks to my fantastic binder of Makayla's medical records, the we were able to provide the doctor with a copy of a report from a VEP that Makayla had in September of 2011 at UC Berkely, thanks to a research study she was accepted into with the help of her Vision Therapist (have I mentioned how much I love these ladies?!).  Dr. Hertle said the results of that test were very good, and would be enough for him.

Finally, the doctor dilated her eyes and after his examination talked to us about the possibility of Makayla being albino.  This wasn't the first time we've been asked by doctors if she was albino.  As I understand it, most, or almost all albinos have Nystagmus (interestingly enough, I watched a documentary on albinism during my pregnancy, and learned about it's correlation with Nystagmus, AND that it was helped me identify Nystagmus in Makayla when she was only a few months old).  Obviously, Makayla is very fair, and has blue eyes.  We have not had any genetic testing done to determine if Makayla is Albino, but Dr. Hertle found a lack of pigment in Makayla's retina and noticed mild transilumination (light reflecting back) in Makayla's iris.  Both of these are commonly found in someone with Oculocutaneos Albanism (OCA).

We've been told by a couple of doctors now, including Dr. Hertle, that getting insurance to cover seeing a geneticist can be impossible, and that because not all of the markers for albinism have been identified yet, we could get a "negative" on a test, but still not be able to rule of the possibility of albinism.  Although more information is always better, knowing with certainty if Makayla is albino, does not change anything as of right now.  I am still very curious about all this albino talk and looking into getting some more answers.

We were very excited to hear that Dr. Hertle has a plan for treating Makayla.  Starting this weekend, we will begin "patching" to strengthen those weak muscles in her right eye.  We actually don't think Makayla is going to tolerate wearing a patch on her eye, so Dr. Hertle gave us dilation drops for her left eye, which will blur the vision in that eye and force her to use the right eye.  We will do that over the next two to four months and then go back to Ohio for surgery to fix the strabismus, and move Makayla's null point to the center of her vision.  We are currently waiting for a call from Dr. Herlte's scheduler for our exact surgery date.

The doctor thinks this surgery will be very helpful and improve Makayla's vision.  He said that she has only a very slight astigmatism, so if we can improve her Nystagmus enough, she may be able to see very well.  After this surgery, we will go back and See Dr. Hertle again and redo all the testing to gauge her improvement.  Based on the results, he may want to do a second surgery, or start getting Makayla into contacts.  The contacts will help to slow the movement of her Nystagmus, and straighten out the alignment of her eyes (if there is any strabisum not fixed by the surgery), and will also be tinted to help with her light sensitivity (also a symptom of OCA).

We are so glad that we make the difficult trip to see Dr. Hertle.  We have so much more information now, and a plan to help Makayla.  We have so much hope and optimism for her future!

Ohio A Go-Go!

 
Ohio-bound in just over two weeks!  (You can catch up on all things Ohio, here, here and here.)

Thanks to our amazing, and generous family, the hubby will be coming with Makayla and I to Ohio, while Austin stays home in the loving care of his Auntie Jenny.  It is such a huge relief to know that Joey will be coming to Ohio, not just for the extra set of hands, but because this doctor visit may be the most important doctor visit of Makayla's little life!

Not only do we have the best family, but, the wonderful people at the Ronald McDonald Charity House have offered us a room to stay in while we are in Ohio.  They are located right across from the hospital and provide meals to the families staying with them.  The staff seems very friendly and warm, and from what I understand, a lot of the families that stay there are there to visit Dr. Hertle, so it sounds like we'll be in great hands and good company.

I've spent all week on the phone with Makayla's current doctors making sure I have all the most up to date medical records.  When Makayla was diagnosed with Nystagmus and we started visiting so many different specialists, I started a binder that has all of her medical records, including the reviews I get from her Vision and Physical therapists.  I also keep all of her doctors' business cards with contact information in the binder.

After we saw the second or third specialist, for Makayla, I realized I was having trouble keeping my doctors straight, and sometimes when they would ask all the normal health history background information, I couldn't remember who did what when the twerpies were in the NICU.  This binder keeps my sanity, and when we see new doctors, they always appreciate that I can whip out a specific page for them to copy.  This also means, that they can answer more questions right then and there on the first visit, instead of having us come back later once they've requested the relevant medical records they need, from the other doctors.  This binder has been so useful, I am considering keeping one for Austin now too, and think that any new mom should keep a record for their new baby.  You just never know when something that seems so benign, may be useful to your doctor.

I am making a mental list of all the things we need to get done in time for Ohio, and what we need to take with us.  Having Joey along will be very helpful, but, I am still a little worried about traveling with Makayla (shhh, I'm trying to play it cool with the hubby).  Makayla is a shrieker.  High pitch screams...and that's when she's HAPPY!  I hope the people on the flights done mind us too much.  We'll have a short layover in North Carolina on the way there, so the day before Makayla's appointment will be a very longggg tiring day of traveling, and I worry she won't be rested enough for all the testing the next day.

I am determined to make the best of it.  I don't expect anything will go according to plan or be easy, but we'll just roll with it and hope for the best.  Makayla is crazy about her daddy, and I'm counting on the fact that no matter how tired she is, between the two of us, we will keep her in a good mood for her visit with Dr. Hertle.

Like a referee with a whistle!

It's official, like a referee with a whistle!  Makayla and I will be heading to Ohio in just a month and a half, to see the very best doctor in, quite possibly, the world, for Nystagmus.

I had several conversations with our insurance company last week and they confirmed that all the services from Dr. Hertle, including the surgery (IF Dr. Hertle thinks surgery is the best treatment) will be covered under our plan.  Unfortunately, the travel expenses will not be reimbursed, but I knew that was probably too good to be true.

I notified Dr. Hertle's office right away, that our insurance gave us the thumbs up, and they called me yesterday to schedule her first appointment with Dr. Hertle.

She will meet the doctor on April 18th.

That's just barely a month and a half away!  That is half the time it took me to get in with ANY of our local specialists!

This visit will be four hours long and in addition to meeting with the doctor, will include several tests.  As I understand it, all of the following tests will be preformed in those four hours:

• Comprehensive Exam
• Detailed Exam
• Electroretinography (ERG)
• B scan
• Gaze and Fixation Nystagmus Eye Movement Recording
• Color Vision Extended
• Ext Ocular Photography
• Fundus Photography
• Sensorimotor Exam
• PLT Pref Looking Test
• Visual Evoked Potentional (I don't think they are testing for MS, but this was the best discription I could find.)
• Visual Field Extended

I'm excited beyond words.  I was nearly hyperventilating on the phone while making the appointment.  My tummy flips every time I think about how much getting Makayla this appointment means to me.

But....

I have to admit, I'm a little worried about how well a 16 month old is going to tolerate so much testing.  I know that for me, as an adult, by the time I'm done at my regular optometrist's eye exam, I've looked through so many "one, one, or two" slides that I just start blurting out numbers to get it over with since everything looks the same at that point.

The reading material that Dr. Hertle's office sent me says to make sure that Makayla is well rested before the visit since it will be a long day for her, but since this will be her first time traveling, I'm concerned she won't get much sleep.

I'm worried how Makayla and Austin will do being separated for the first time.

I wonder how the heck I'm going to travel, by myself, with all that I will need to care for a child under two.

I'm so scared Dr. Hertle will say the surgery isn't for Makayla.

I'm scared to death he'll say she needs the surgery.

But mostly....

I'm excited to know as much about her Nystagmus as possible.

I'm hopeful that we'll finally get an answer as to what is causing her Nystagmus and why.

I'm hopeful that we'll find a treatment effective enough for her to live independently, and enable her drive some day.  And that it helps her enough that she needs no intervention in the classroom and that she's able to make friends easily.

No really, to Ohio!

Yesterday, I got a call back from Dr. Hertle's office regarding the inquiry I sent them for more information.

I talked to the friendliest, patient, most informative woman.  Knowing that she probably had very little time to actually hear what I needed to say, I blurted out Makayla's entire medical history and at least thirty questions in rapid fire fashion.  She very patiently listed to me as I sputtered our story.  Never interrupting or rushing me, only stopping me to ask extremely relevant questions.  What was truly shocking was how she spoke to me like a concerned mom, rather than a busy office assistant who has heard similar stories a thousand times and really needed to get to other clients.

By the time I was off the phone with her, Dr Hertle's assistant had emailed me six informative documents including information regarding the surgery, what to ask our insurance, and an outline of what the visits with Dr. Hertle would entail, and a link to the American Nystagmus Network for support and additional information.  She also sent me some paperwork to fill out for Makayla so they can get her in their system and schedule her first appointment with Dr. Hertle.

After speaking with our insurance company yesterday, who confirmed that Dr. Hertle is a covered doctor (wooohooooooooo), they said that since Dr. Hertle's care is so specific and specialized they may even be able to reimburse us for some or all of the travel expenses!  My fingers are crossed, but that sounds too good to be true!  They are currently looking into it for me and will be calling me back to confirm.

I quickly filled out all the paperwork and sent it back to his office along with a short summary of Makayla's medical history, and already this morning I got confirmation that they received the paperwork and it's been sent to their scheduling department who are supposed to contact me on Wednesday.  We are hoping that we'll get an appointment as early as May.

This appointment will be a chance to meet with the doctor, and have some unique testing done, like an Eye Movement Recording and an Electroretinography (ERG), just to name a few.  Based on the results of the exam and tests, the doctor will recommend the best treatment.

I am still really scared of putting Makayla through a surgery, and hope that the doctor tells us that she sees good enough that she won't need a surgery, or that her Nystagmus may improve over time.  However, I have read that if surgery is the best treatment, then the best age for the surgery is between 12 and 24 months.

I am so excited to have so much new information at our finger tips.  I feel a huge sense of relief to know that my little girl is going to be seen by a someone who knows as much as possible about her condition.  But I am sooo nervous about all that it entails too.

To Ohio!...?

Today, we had a visit from Makayla's Vision Therapist.  She and Makayla's Physical Therapist have been coming almost every week now since the twins were just four month old.  I really appreciate our visits with them.  They have given us so many tools and resources to help Makayla develop.  I don't think they know, but they have moved me to tears on more than one occasion by the progress they have helped Makayla make, and by giving me the confidence I need to be the best mom I can be to Makayla.  

Several months ago when we were waiting for Makayla's MRI results, I was doing lots of research on Nystagmus and connecting with a few other moms of children with Nystagmus to share information.  During my research, I found out about Dr. Hertle at the Children's Hospital in Akron Ohio, and several treatments and surgeries he is using to help children and adults with Nystagmus.  After getting in touch with some people through the American Nystagmus Network, I was able to talk to lots of people who have had his eye muscle surgery which is supposed to slow the eye movement.  Many of the patients notice little or no eye movement at all after surgery, except during times of stress or fatigue.  I have yet to read anything negative about his treatments. 

Here is a video about that surgery.  It's very difficult to watch, but I found listening to the sound without watching to be very informative. This video is from 2007, and based on what I've read and seen, the surgery and treatments have actually come a long way since this video was made.  Horizontal Tenotomy: A Treatment for Congenital Nystagmus. 

When I first brought up the surgery with Makayla's Vision and Physical Therapists, both of which work with many children, under three, with Nystagmus, they had not heard about Dr. Hertle or the surgeries.  But from talking to the Vision Therapist today, she seemed to be a lot more informed.  She said that she's been reading up on on the treatments lately, and I get the feeling that one of her other students may be getting ready to have the surgery.

Traveling to Ohio for what probably will be several appointments, would be a huge deal.  Would I travel alone with Makayla?  Would my husband be OK at home along with Austin knowing that his little girl is having a life changing surgery? Would I be able to handle that on my own?  Would all four of us travel to Ohio?  Could we afford that?  My questions never end.

I sent a request to Dr. Hertle's office today to see about getting more information and I reached out to some people through the American Nystagmus Network to get input.

This isn't about the surgery though.  I actually hope that she doesn't need the surgery.  This is about getting Makayla seen by a doctor who knows as much about her condition as possible.  I do like the Pediatric Opthemologist that she is currently seeing, but it is just obvious that her knowledge of Nystagmus is minimal, and that seems to be the case of most POs.