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.

The Latest on Makayla

SILLY little stinker!

Since I spent a good portion of time on the phone today with Lucile Packard Children's Hospital, where Makayla sees all her doctors for her Nystagmus, I thought this would be a good time to share everything we've learned in the months since my last post.

After Makayla's MRI, while we were still waiting for the results, we had a follow up appointment with her Pediatric Ophthalmologist.   We were in and out of that appointment in less than five minutes and the doctor said no more than, "looks no worse and no better, see you in six months!"  Before we even made it out of the parking lot, my husband and I decided Makayla needed a better doctor.  Since then, she's been seeing a PO at the same Lucile Packard, Stanford's Children's Hospital, the same place where she sees her Neurologist.  But, let me get back to the MRI for a minute...

The neurologist informed us that Makayla's MRI showed no signs of anything that would cause her Nystagmus, and said that her Nystagmus is most likely congenital.  They did tell us that there was some space that indicated possible delays, but it may just be due to her prematurity, it's something we'll just have to wait and see as she develops.  The good news is, that Makayla's Physical and Vision Therapists think she's doing great.  She has caught up with her peers now, and may even be exceeding if you adjust her age due to her prematurity!

Makayla's new PO has been wonderful, we've seen her twice now, and have another appointment coming up.  She feels strongly that there is no such thing as "Congenital Nystagmus," and is determined to find a cause.  I really appreciate that about her.  I'm so grateful to have a doctor that wants as much information as possible and won't just settle for, "I donno."  Since Makayla is so fair, she offered to refer us for genetic testing to see if there is albanisim, which commonly comes with Nystagmus, but said that the testing is often unreliable, plus, I'm quite fair myself, so it's likely she's just a mini me.  At our last appointment with her she asked that we have a Electroretinogram (ERG) done on Makayla to see if we can get anymore information about the way she sees.  We are currently waiting for that appointment to be scheduled, and unfortunately, Makayla will have to be sedated again...

That's the short of it, but I will share more as we continue to see doctors and have testing done!

Heya Stranger!

Well hello, Blog!  Long time, no post!

Goodness, has it really been nearly two months since a post?  Well, let's catch up!

The twins are seven months old now, and more fun than ever.  Although they keep me very busy and practically don't nap at all, they are turning into very cool little people!  Giggles galore!  Makayla loves her jumper and looks like she might be auditioning for Riverdance when she plays in it.  Austin is scooting all over the place!  It wont be long before I'm constantly chasing after the two of them.  I am also now laughing at how much we tried to protect them from germs in the beginning, since now, everything goes directly into their mouth!

Seven Months Old

We took Makayla to Stanford's Children's Hospital on Wednesday for her MRI.  The purpose of the MRI was to rule out any neurological conditions or more serious factors that may be causing her Nystagmus, such as a seizure condition or a brain tumor.  She was so brave, and did so well.  Even though she was unable to have anything to eat after 5:30 a.m. that morning (since she is so young they had to knock her out for the procedure), she was all giggles and smiles and dancing for the nurses when we got there for her 12:00 p.m. appointment.

It was really hard watching them put her under, and combined with all the hospital smells, which reminded me of the NICU, I was very emotional. I am very thankful that we have a very amazing friend, Aubrey, who was willing to stay with Austin all day, so that Joey and I could both be with Makayla, and there for each other on this emotional day.  She even cleaned my house while we were at the hospital!

Unfortunately, we will not get the results until August 23rd.

Makayla the morning of her MRI

Thanks to a referral form the Blind Babies foundation, we also have a Vision Specialist and a Physical Therapist, from the school district, coming to visit Makayla (and Austin) once a week.  They have been coming to see her for a little over a month now and are thrilled with the progress she is making physically, and we are learning a lot about Makayla's vision, and the best ways to help her see.  The vision specialist has noted that her Nystagmus has mellowed a bit over the last month, and predicts that we will see much more over the first two years of Makayla's life.  


I've also recently started up a friendship with another mom, Claire, thanks to the Nystagmus Blog.  Her son, Jack, is about the same age as Makayla and Austin, and also has Nystagmus.  She is from the UK, and we chat about being new moms and what Nystagmus means for our children.  Although we are both very busy and have a hard time keeping up with our emails, she has been a great support system for me.

As for my couponing shenanigans?  I'm still at it, and am now really finding my groove.  My poor husband has been such a good sport.  The poor guy, I have switch up his coffee, his body wash, deodorant, and the meals I prepare, but he remains supportive and willing to try whatever I toss his way.  Although I struggle to find coupons for our groceries, I know that the way we shop for toiletries and household items will forever be changed.