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.