This post is part of The Mother Letter Project.  You can learn more about the project on The Mother Letter Project blog.  For the purposes of that project, I address the letter to mothers, but what I say applies to father's as well.

 

Dear Mother,

Oh my, this is not what you expected.  You dreamed of a perfectly healthy, “normal” child, we all do.  You’ve known something isn’t right and now, there is this “diagnosis”, this label, this thing that states you didn’t get what you expected.

Grieve Mother.  Go ahead and grieve the loss of the perfect child of your dreams.  It is ok, the sadness, the fear, the worry, they are all normal. So pound your fists, and have a good cry.  The sooner you let it out, the sooner you can move on.  Your child is the same, only the path you will travel has changed.

Love your child and educate yourself about the condition. Take little bites and compile a list of resources you can consult when you need additional information.  Seek out families with children who are older than yours and the same age as yours.  Ask them your questions and compare experiences, but remember, no two children are ever the same.  Take what you learn and view it through the filters of your life and your child’s personality.

Take care of yourself and be gentle with yourself as  you adjust to the changes created by the diagnosis.  Sometimes the best thing to do is nothing at all

As your child grows, you will become an expert in acronyms such as IFSP, IEP, M.D., O.D., PT, OT, TVI O&M, NCLB, ADA and on and on and on. Many will have opinions, but remember that the one that counts the most, is yours.  You are an expert on your child. If a remedy doesn’t feel right, don’t do it.

One last piece of wisdom, and to me, this is perhaps the most important. Don’t say “You can’t do that.”   Instead, allow your child the time, space, and tools to find his or her own limits.

The hardest thing in the world is to watch your child struggle but it is these challenges that will build inner strength and develop the coping skills necessary to thrive as adult an adult.

And so Mother, grieve the child you lost, love the child you have, learn as much as you can but remember to be kind to yourself.  Give your child the wings to fly and someday when you are able, share your experiences with others.


Best wishes,

Lee
Woman with albinism and mother of two children with albinism.

It’s a new school year and Trisha’s in third grade.  So far, we’ve had a good experience with the district and a great experience with the teachers. 

From the get go, I’ve said that third grade would be a pivotal year. The print gets smaller and the expectations get higher.  Third grade is also the year our district starts standardized testing. Our district participates in two sets of standardized testing, the NWEAs and the NECAPS.  Only the NECAPs are federally mandated.

In our IEP meeting in the spring we discussed the testing and the necessary accommodations. Large print materials would be ordered for the NECAPs but the NWEAS are administered via the computer.  

There are three sections to the NWEAS and the first, a reading test was started the second week of school.  At the open house the night before the testing started, the teacher happened to mention that NWEAs would begin the next day.  I HATE to be a helicopter parent, so I will typically leave the teachers alone until the third week of school. Then I make contact, and offer to answer any questions they might have and offer my assistance in the classroom. 

I hesitantly asked Miss D. if she wanted me to come in to insure that the computer was set up so Trisha could see it.  I am fluent in Mac and conversational in Windows. She looked relieved and jumped at my offer.

I showed up at the appointed time.  The computer lab is mostly Mac laptops so I thought this would be a few quick keyboard commands and I’d be on my merry way. Yeah, right, you’d think by now, I’d know better.

I’ll save you the techno babble. The bottom line is that the testing is not run from a Mac, it is run as a client/server application and the software (Test Taker 6.1) will not allow any modifications.  It is 12 point black type on light blue background.  That’s it.  Too bad if you can’t READ 12 point black type on a light blue background.

Kudos to the principal.  He agreed it wouldn’t be a fair assessment and called the district’s tech team. Dan was on sit inside of an hour (I waited). He did a local install and played with .ini files to know avail.  While he was fiddling, I was Googling NWEA.  I searched their site for “visually impaired”.  That’s when I knew we were in trouble.  The only two search results talked about pencil and paper tests. 

I did find a technical support number and the Dan called.  NWEAs suggestion?  Windows Magnifier.  In the long run, not a bad suggestion.  Not my preferred solution, but not a deal breaker, in the long run.  In the short term?  Not so good.  Trisha’s never used Windows Magnifier and I’ll be darned if her introduction to it comes during an assessment test.  The principal agreed.

I don’t feel the Pencil and paper test is a viable alternative for two reasons, the first is that the computerized test, individualizes to the student’s abilities.  If they answer a question correctly, the next question is harder.  If the student answers a question incorrectly, the software presents and easier question. You can’t do that with pencil and paper.  The second reason is far more practical.  The large print P&P test needs to be ordered in advance and the district has to pay for it and it wasn’t budgeted for this year.

We put the call out to Trisha’s Vision teacher and the regional assistive technology coordinator seeking assistance.  ZoomText and BigShot were both suggested.  To me, that is the same idea, but more expensive, as Windows Magnifier and I won’t allow her to use those tools in a testing environment until she’s had a chance to learn them and uses them comfortably.

I don’t know where we’ll go from here.  I’ll be honest, I dislike standardized tests.  I don’t think they are a true indication of a student’s progress.  I won’t be disappointed if she doesn’t get to take the test, although I’m not sure the district feels the same way.

I will say that I am pleased thus far with the district’s response.  Everyone has truly worked to solve the problem at hand.  NECAPS start next week and her classroom teacher has already spoken with the SPED coordinator about the necessary accommodations (large print test, untimed, ability to write in the test booklet etc.) Miss D. and I are scheduled to confirm the arrangements on Monday by phone.

What have your experiences with standardized tests been?  Does your district use computers or strictly pencil and paper?

Yesterday my daughter Trisha and I bowled as part of Team New Hampshire’s 2008 Bowlathon.  It is always fun to make new friends and catch up with old ones (even if the little girl you met when she was four is now a freshman in high school!) We had 17 people from 5 families at our gathering. I want to thank the two Tricias (Tricia Thomas and Tricia Roy) for all their efforts putting the event together. Late last fall, I was entertaining the idea of hosting a Wii bowling event;  I even have a half written blog post outlining the necessary elements, but then life got in the way.  I provide administrative support for my Trisha’s brownie troop which among other things means being Cookie Mom.  This weekend designated as cookie delivery weekend and I knew that having 1200 + boxes of cookies stacked in my living room would make hosting a bowling party a little challenging. So, we went to Windham, New Hampshire to bowl in person instead of virtually.

I grew up with 10 pin bowling, but here in New England, they favor candle pin bowling (straight skinny pins, and smaller balls without finger holes).  It doesn’t matter which version I play,  I stink at both.  Today, we played glo-bowling (dim lights, lots of black lights).  At first, I though the dim lights might make bowling easier. but the pins were lit by bulbs that were continuously changing color.  Easier? eh, not so much. 

Those who know me know I am not known for my grace and style.  Today was no exception.  I slipped at least 3 times and yes, once landed on my keester.  Not being able to see clearly at a distance means you can’t see how hard people are laughing at you. As I struggled to put the ball where I wanted it, I had to wonder who’s brilliant idea it was to send the legally blind people BOWLING? That said, we did have fun, and it wasn’t really about the bowling, it was about getting together in NOAH’s name to have some fun and raise some money and today, we did of both.  

 I have photos, and as soon as I figure out how to post them, I will :)

Lately I’ve been thinking about or maybe even a little concerned about my older two children who don't have albinism,  Dominick and Rebekah. At the same time, I’ve been thinking about or feeling like lately I’ve been spending an enormous amount of my time focused on Lyra’s needs and neglecting the needs of Dominick and Rebekah. Have they noticed? I’m sure they have. A couple of friends and family members even questioned me about the time I’ve been spending on Lyra compared to my other two. How has it affected them? I have no clue, at least right at this moment. Apparently I’ve been too busy to notice, and that’s a problem. How does having a child with albinism affect the lives of his/her siblings both in positive ways and in negative ways?

Earlier this week, an interesting post popped up in my blog reader from a blog I recently subscribed to, Parenting Special Needs on About.com. The post was entitled: What Siblings Would Like Parents to Know. I think it was exactly what I needed to read and exactly when I needed to read it. A couple of things I read in it really jumped out at me.
The first, was that siblings of a child with special needs will be in the life of that child longer than anyone else. Dominick and Rebekah will have a relationship with their sister long after I’m gone. What kind of relationship do I want that to be? Of course I want it to be a positive relationship. I want them all to be close, and to love and care for each other. The last thing I want to do is cause Dominick or Rebekah to feel resentment. What if I’ve already started to do that?

The other point in the article that jumped out at me was this: “One child’s special needs should not overshadow another’s achievements and milestones.” This made me think back to a couple of weeks ago. Dominick turned 6 on January 31st and we had a birthday party for him the following weekend. However, because I didn’t bother to send out the invitations until a week before the party, only 1 of his friends showed up at the party. He didn’t seem to mind, and he had a blast with his one friend, but I’m sure at some point he thought about it and was a little sad. It was MY fault, but who would Dominick blame…me…or Lyra?

I know this is just one experience/situation and ONE experience doesn’t make or break a relationship. I may be reading more into it, but at the very least, it’s been a wake-up call. I need to pay better attention to how I’m spending time with my children and how equally. I need to remind myself that I as I raise my children, I am laying the foundation for their evolving relationship as siblings and ask myself if I want that relationship to be positive or negative.

Here are a couple of resources I found related to the subject of siblings of children with special needs:

The Sibling Support Project

Children with Disabilities: Understanding Sibling Issues


 

The time has come for my husband’s office and my son’s bedroom to cease being the same physical location.  We’ve recently had part or our attic finished as my husband’s new office. We’re trying to do this as cheaply as possible, so we’re doing the painting.  I don’t really mind painting, it is the prep work I can’t stand.  And let’s face it, 90% of any paint job is PREP WORK. We spent most of yesterday taping and filling nail holes.  While running large stretches of painters tape, I was forcefully reminded of how much better I see on the horizontal plane vs. the vertical plane.

If I have trouble differentiating between a B and an 8, I’ve learned to turn the paper on its side. The B has a straight back. The 8 does not.  I’m not sure who taught me this or if I just figured it out by myself, it something I’ve done for as long as I can remember.  It is particularly handy when reading serial numbers or credit card numbers

Math, has never been my strong suit.  Adding columns of numbers was shear torture for me until I was introduced to Excel in college.  I’m fairly good at totaling things in my head, but ask me to show my work and my columns tend wiggle like a piece of cooked spaghetti.

In the 8th grade, I took algebra 1.   I “got” algebra.  It made sense to me and for the first time I was relatively successful at math. Algebraic equations run on the horizontal.

That was 1982, later that year, I would meet Dr. Carl Witkop.  He told me that there was anecdotal evidence to indicate that many people with albinism had challenges in the vertical plane.  There was probably a scientific explanation that accompanied the discussion, but I don’t remember the specifics.  I just remember feeling relieved that I wasn’t a complete freak.

Fast forward 25 years to the newly renovated attic.  I’m trying to run tape right next to a piece of molding that runs at 45 degree angle, from the ceiling to a kneewall. The molding I’m trying to protect is unfinished and the paneling (I told you we’re doing this on the cheap) is a light oak.  Can you say ZERO contrast? What a pain in the $#@!.  I’m either too far from the molding or overlapping it.  So, I turn my head sideways to compensate.  Ah much better, BUT, I have to tilt my head to the right, so that my left eye, my dominate eye, is on top. Oh and I’m even more effective if my head is tilted down a little to accommodate for the null point of my nystagmus.  Man it is no wonder I am in physical therapy for neck and shoulder pain. I’ve got to be a contortionist just to see straight!

So parents, if your kids are having challenges in the vertical plane, here are some things to try.

Encourage them to turn their work sideways, so they are working on the horizontal.

In the case of adding columns of numbers, try photocopying graph paper (use the big blocks).  For extra contrast, have them use a red medium tip marker (we like Flair in our house, fine tip Sharpes work in a pinch).

Now if you’ll excuse me, I need to finish painting.

Troy (Lyra's daddy) has been bugging me (Lyra's mommy) about buying a Macintosh computer FOREVER.   It had become quite comical.  I would be working on video/photo editing stuff on our PC and I couldn't do something I wanted to do with them...Troy would jump in with, "You could do that if you had a Mac"...or I'd be complaining about all the spyware on our PC and Troy would quickly reply, "You know what doesn't get spyware...a Mac!"  He was ALL ABOUT THE MAC. I had read the posts on the NOAH forum and read the recent article in Albinism Insight about the benefits of Macintosh computers to people with low vision.  But me, being the mom and the more practical one, thought Macs were overpriced and that we had much more important things we could spend money on.

Finally...after months of consideration...I gave in.  This week, Troy got his Mac.  The very first thing he did after getting it all set up, was plop Lyra down on his lap, in front of the monitor, and took her to the Senswitcher website to play.

Before I go any further...let me just remind you all what the title of my last blog post was... "Getting Her Point Across"  It was all about Lyra's inability to POINT at things, pictures, people, etc.   I know it might sound silly, but this was a BIG DEAL to me...it seemed like such a simple task, but no matter how hard I tried, she just wouldn't point.   I think she just CHOSE not to...just to irritate her mother.

AND THEN!!!  

WOULDN'T YOU KNOW IT!!!  

Daddy puts her in front of the Almighty...Incomparable MAC...

Up pops a picture of a kite on the Senswitcher game, and WHAT does Lyra do?

?

?

?

?

? 

She POINTS to the picture!!!  
My jaw dropped and my eyes popped out of my head!
Then what does daddy say...

"Seeeeee............Macs ARE better!"

Lyra had made his case for him. 

P.S.  I DID actually happen to have the camera in my hand.  I wanted to take a picture of Lyra in front of the Mac to go along with a post on Lyra's website about technology for children with low vision.   I didn't expect the pointing surprise.

No doubt many of us that frequent the NOAH forums are aware of a lawsuit currently winding its way through the US court system. It is case involving the Target corporation, one of the largest retailers in the United States. The lawsuit isn't related to the physical bricks-and-mortar locations, it's about the accessibility of Target's website, http://www.target.com. Without getting into too much legalese, the gist of the lawsuit is that Target's website is not accessible to blind and visually-impaired users. Now, while I don't have first-hand experience in trying to use Target's website with assistive technology, I am a professional web developer, so I am familiar with accessible guidelines and accessibility laws. What makes this court case potentially so ground-breaking, is that the case has now been granted class-action status. Now it's no longer one person suing Target- it's thousands of blind and visually impaired users suing Target. Those users are being represented by the National Federation of the Blind. You can read more about the lawsuit over at News.com.

Other web developers have written some great articles about this lawsuit, and I don't want to rehash what they have said. If you want their perspectives, read Jeremy Keith's article at Adactio.com, Joe Clark's article at fawny.org, and Roger Johannsson's article at 456bereastreet.com, and Christian Montoya's article at his web site. I've left a few comments there, if you care to read them...

Jeremy Keith's article was the inspiration for this post. He wrote about the comments being posted on two very popular web sites frequented by web "professionals" (I use the term lightly, because some of the comments aren't very professional). I'm not going to give them any link love by posting direct links here, but Jeremy has direct links from his site. I would encourage all of us to visit those sites and kindly let the commenters know that they are wrong ;)

As someone who makes a living doing web development, I'm ashamed to be associated with developers who don't care about accessibility. To me, it's a fundamental rule of web development. Sites should be based on accessibility, but too often it is an afterthought. I'm not talking about just adding a few "alt" attributes either- I'm talking full-on structure, content, colors, etc. So many developers don't get it. It's either ignorance at best, or arrogance at worst. Either way, it's wrong, and developers that don't get it shouldn't call themselves "professionals".

P.S. This could apply to other professionals as well (doctors, pediatricians, teachers, social workers, etc...) Being a professional means being better- educated, skilled, or whatever... 

 Hello everyone!

 Sorry its been awhile since my last (first) post!  September was CRAZY!  I don't know where it went!  I think the main reason it seemed to fly by was that at the end of August, our PO said the big S word - "Surgery".  Our little Rachel needed to have surgery for the esotropia.  The atropine drops in her strong eye (for 8 weeks) had worked to turn her weak eye back "on", but the muscles were still tight.  So then it was time to cut.  Yuck!  My stomach lurched when he said that.  I had two voices in my head:  the stable, health-care worker voice was saying "this is an easy, quick, outpatient procedure.  No big deal."  Then the paranoid, panicky mom voice answered "Yea, but this is my 15-month baby girl!!!!!  What about the anesthesia???  What if she has trouble waking up???  What if, what if, what if"  It was non-stop.  So most of the month was spent in anticipation of the 25th.  I could go in to lots of detail, but lets just say that everything went really well, I am extremely happy to report.  She had a little bit of a problem in the first stage recovery because she still had gunk in her lungs from a cold a month prior, but nothing major.  The happy news is that her eyes are straight!!  Now when she looks at me, both of her big, beautiful, blue eyes are looking right at me!!!  That was a great feeling!  We are now 2 weeks out, and there is just the tiniest bit of redness left in the inside corner of one eye.  She didn't rub her eyes at all after the first day, and it seems like she's seeing better.  Unfortunately we had to keep the glasses...I was kind of hoping to get rid of them but the "surgery just corrected what the glasses didn't" according to my PO.  Sammy, her twin, doesn't have to wear glasses (yet) and he still messes with her's anytime he can get them away from her.  I have noticed that she is peering over the top of them more often since the surgery, but I think that's primarily because the lenses are so scratched up they look like road maps!!  The PO is going to check her prescription at our next appointment in a month, so we'll just keep dealing with these.

This surgery did get me to thinking though...

I wondered what the nystagmus surgery procedures were like, and if they would be beneficial for Rachel and Sam down the line?  So, if anyone reads this and has gone through the nystagmus surgeries, I would really like to hear how it went for you.  From what I've found on the internet (that good ol' trusty source), the surgery is mainly for kiddos who have a pretty significant head tilt to find their "quiet" point.  It returns the null point with eyes in midline and might decrease the amplitude of the nystagmus but not the frequency...or something like that.  Anyways, if you have any comments on this surgery, please let me know.  I have seen threads about this on the discussion board before, so I'll go back and read those more closely.

My other question was related to the esotropia surgery.  Has anyone gone through this surgery - then had to do it again later?  Our PO said it was about 80% effective the first time, so I'm just curious if anyone has experienced that.

One my last posting, I think I talked about how Sammy seems to have some depth perception difficulties.  He had been getting down to crawl over the cracks in sidewalks or changes in floor texture rather then stepping over them for about 2-3 weeks in August.  But he's not doing that anymore, so now I don't know if its depth perception or just unsure about how to maneuver in his environment.  Does anyone else have problems figuring out if the behaviors you observe in your kiddos with OCA are related to their reported vision problems, or just part of being a kid?  I have trouble with that all the time.  If the kids didn't have nystagmus, you'd have a hard time convincing me that they have vision problems right now. 

One a daily note, I'm happy to report that we have officially entered toddlerhood...and all I can say is that I hope we survive the next 2-3 years!!     We have started to witness temper tantrums, fights over toys, hitting, biting, and "divide-and-conquer" techniques.  The kids are in to everything, love to climb on furniture, and have to taste everything they find.  But we're also getting the running hugs, toddler-ese conversations, twin-to-twin hugs, blowing kisses, and new words every week, so we're still having lots of fun. 

Anyways, that's all for tonight.  I'm looking forward to hearing what other people have experienced with nystagmus or esotropia surgeries.

 

I was honored that NOAH asked me to be a blogger on the NOAH Parent's Blog. I thought I would use this as way to share some of my thoughts with all the NOAH parents. At that same time, I hope the NOAH parents would share some of their insights as well. I'm a firm believer that a blog is only as good as the discussion it generates. So bring on your comments!

---

I've been doing a lot of thinking lately about how I can make my child's journey into adulthood a more pleasant one. Obviously, every child experiences ups and downs. With three kids, all in different stages of life, my wife and I are experiencing different parts of the journey at the same time. For example, on the 2nd day of school, our new kidergartener got off the bus and said, "I quit."

"You quit what?" my wife said. "Riding the bus?"

"No." he said. "I quit school."

Our oldest daughter is hurtling headlong into adolescence (boys, junior high dances, etc.) and experiencing all the different emotions that go along with that. Our youngest daughter, who has albinism, just got fitted for her new glasses. She has just now begun feeling for changes in elevation whenever floors change texture or the carpeting changes color.

So what does all this have to with educating the masses? Well, one of our primary responsibilities as a parent is to make our child's environment as comfortable as possible. That also includes interaction with random people in the grocery store, restaurant, etc. My oldest daughter and I recently attended a Christian Music Festival. We were standing in line to meet one of the bands, and standing a few people in front of us was a young lady with albinism. We were close enough that we could hear her conversation with the band. One member of the band remarked to the young lady, "You must dye your hair!" To which the young girl replied, "Uhh... yeah, thanks."

Now obviously the band wasn't trying to be hurtful or disrespectful, but I felt sadness for the young lady. Sadness that she likely had been hearing comments like that her whole life, and had been conditioned to respond in that way. It made me think about my own daughter, and how she might react to comments like that as she gets older.

I'm not a very confrontational person by nature, and sometimes I have an "ignore the ignorant" approach. I've been in the grocery with our youngest daughter, and inevitably, I hear someone say "look at that white hair..." They don't say it in a mean way, they are simply pointing out that she is different. But they don't point out our other kids' dark hair, so she is being singled out. My dilemma is this: Do I approach that person and kindly point that my daughter has albinism, and explain what albinism is? Or do I simply go on about my business as if their comments weren't any big deal? Usually, I just go on about my business, ignoring those comments or chalking them up to lack of knowledge about albinism. Or if they are speaking directly to me, I'll say something like "Uhh... yeah, thanks."

Our daughter is young enough that she doesn't understand the comments. But as she gets older, am I sending the right message? Is it okay for our daughter to just ignore those comments? Or should we teach her how to respond in a respectful manner? Kids have enough things to deal with as the grow up, and albinism adds another level of issues. We want her to have good self-esteem, and to feel like she fits in. But how can she feel that way when she is so outwardly different?

I don't think I'm the only parent who deals with these issues, so please leave your comments. If you have an older child with albinism, please let me know how you have taught your child to deal with these issues.

(Before I start, I have to put in a disclaimer that I have never "blogged" before, so bear with me if I make a few beginners faux pas...)

 When I think about writing a blog for NOAH, it seems that the logical topic for my first entry would be to give a back ground on how I end up writing a NOAH blog - the day that our beautiful boy/girl twins were diagnosed with OCULOCUTANEOUS ALBINISM!!!  (duh duh duh duh).  My husband and I had were THRILLED when we found out that we were having twins, and Sam and Rachel were absoultely perfect when they were born.  They had gorgeous "platinum blonde" hair that was actually just white but was so neat on them.  We called them our little Q-tip babies, and had dark blue eyes.  We didn't think a thing about their hair color, because my husband and his brothers were born with the same light blonde hair (now none of them are blonde anymore).  Nobody suspected anything until at about 9-weeks of age I noticed that my little son Sammy seemed to be looking up an awful lot, and he didn't make a ton of eye contact.  I didn't think much about that, being as that I was just trying to survive learning how to take care of these two little people.  Pretty soon, other people began to comment on how much he liked to look at the ceilings.  I began to realize that this probably wasn't normal.  Something in my gut just didn't feel right.

By the time Sammy was 12-weeks old, I knew there was something different about him.  His eyes didn't seem to be able to hold still anymore, and they frequently ticked back-and-forth like a pendulum - it made me think of those wall clocks that look like cats with the huge bug eyes that swung back and forth every second.  Sammy's rhythm almost matched that - every second they'd switch sides and it was getting more pronounced every week.  I tried to ignore it, but then one of my co-workers brought her baby to the office, who was only 3 weeks younger than my babies.  I was amazed at everything he was doing; he was looking at everything, turning his head to his mother's voice, staring her straight in the face, and reaching for toys.  I went right out to my car and began to cry, because I finally realized/admitted to myself that something was wrong with my precious boy.  My mom consoled me and suggested that I should call my pediatrician (who is wonderful) and let him know.  I finally decided to do this 2-weeks later, and left a very detailed message with the not-so-wonderful nurse who answered my call, explaining in detail what I was seeing so she could explain it to the doctor.  She called back and said that "babies at this age frequently have trouble focusing their eyes.  It should pass by the time they are 4-months old.  Don't worry about it."  Needless to say, that frustrated me and did not sit right, but I didn't want to question it and be labeled as a worry-wort new mom.  We would be going for the 4-month check up within 3-4 weeks, so I'd just ask about it then.  However, as it turned out, those 3-4 weeks continued to show me that Sammy's eyes were moving even more, and he was actually behind on the development of visual-motor integration skills (I know this because I administered a standardized motor development assessment on both of them.  Rachel was age-appropriate but Sammy was behind.)  He was also still jerking his head away when we walked through the sunlight coming through our windows, just like from when he was newborn, even though Rachel wasn't reacting that strongly anymore.

At the 4-month check up with our pediatrician, I immediately pointed these out observations, and right away I could tell that he didn't like what he was seeing.  I asked him if this was nystagmus, and he said yes.  With my gut clenched, I asked him if there was something wrong neurologically.  He said that he didn't know and that we needed to do testing.  I felt like I was in a vaccuum, all the air was leaving the room.  My fears had been acknowledged.  Something was wrong with my baby.  Then the doctor pointed out that Rachel's eyes "wiggled" as she was looking at him, and it dawned on my that he was right and I had noticed it but had been so focused on Sammy that I didn't/couldn't admit that Rachel was having problems too.  "She was okay developmentally" I kept telling myself.  But after the doctor pointed it out, all I could do was clutch my babies to me and try to think straight.  (This is probably sounding really over dramatic, but that was one of the hardest days of my life.  Simple as that.)  We agreed that our first step should be to set up a visit with a pediatric opthamologist.  Luckily, we have 3 pedi opth's here in Omaha, and I had always heard good things about them.  I was somewhat relieved that he wanted to start with an opthamologist and not a neurologist.  The only explanation for nystagmus that I had ever encountered in my professional training was always related to a neurological condition (i.e. brain injury, cerebral palsy, etc) so to me it was a good sign that we were starting with the eyes themselves. 

We had our appt with the ophthalmologist on Halloween day, when the twins were 4-1/2 months old.  I was a ball of nerves and was totally focused on every little thing he did, said, and even the looks on his face.  I stayed calm and explained, in detail, the history and observations that I had been noting internally for so long.  He confirmed immediately that they both had nystagmus, even though Sammy's was much more pronounced, Rachel had it as well.  (Her's seemed to kick in when she was looking at things far away, and moved in a fast jiggle, rather than the pendulum-like movements of Sam's.)  He held their little faces up to that big silver machine and looked into their eyes, then said he wanted to dilate their eyes and look at them, but didn't say anything else.  That 25-minutes we had to wait for their eyes to dilate seemed to take for ever, and the word "nystagmus" just kept rolling through my mind.  He finally came back, and held up this mirror/light thing that made a rectangle-shaped light over their eyes, and within 5 minutes of looking at both of them, he looked at us and said "I-think-they-have-oculocutaneous-albinism-which-means-that-they-will-be-very-sensitive-to-light-and-have-poor-vision-probably 20/200."  It came out so quickly, but I was hung up on the 5th word, processing it through my mind, breaking down the medical term like a dictionary - "oculo=eye; cutaneous=skin; albinism=lack of pigment".  But then I looked at my poor husband's shocked face, who didn't have the benefit of medical terminology training, and knew that he was totally lost.  I asked the doctor to explain more, and he handed me a sheet that looked like it came straight from one of his medical text books and explained it again, including why he thought they had OCA.  He stated that their retinas were lacking pigment and their skin/hair color was too light.  I immediately retorted "My husband had the same color hair when he was a baby and there's nothing wrong with his vision" as my husband nodded adamantly.  The doctor just kind of brushed that off and said that we needed and MRI for each baby to rule out any neurological causes for the nystagmus (my stomach dropped even more with that statement) and that we'd need to see a geneticist.  He handed us prescriptions for glasses (which we later found out did not have any correction, only the Transition lenses that would get darker in the light) asked us if we had any questions (to which I couldn't answer because I was still processing everything) and we were shuttled out the door to follow his scheduling nurse.  I remember sitting there in her office, staring at my beautiful babies who were sound asleep in their carriers, and gripping my husband's hand as tightly as possible.  I couldn't look at him because I was trying so hard not to cry and I couldn't handle the shocked look on his face.  After the appointments were made for the MRI and the geneticist, we went across the hallway to look into the glasses that we were told they needed.  My husband finally had to leave the room because he was so overwhelmed, so I finished picking out these tiny little frames for their tiny faces, ordering everything, paying the $650, and getting back out to the car.  Then I lost it. 

All I could think about was that there actually was something identifiably wrong with my children, who were so perfect in my eyes.  My husband, who had pulled himself together a bit, pointed out that the biggest deficit would be their vision, which helped put things into perspective a little bit.  It wasn't life threatening, it wasn't a cognitive deficit or anything like that.  I processed this, and was able to calm down a little.  As I dialed our pediatrician's phone number, I got myself under control enough to leave a coherent message, asking for the pediatrician himself to call us back.  On the drive home, as I was wrapping my brain around this all, it occurred to me that things could be much worse.  Every day I worked with children who were born with congenital defects, CP, scoliosis, mental retardation, autism - much larger challenges than what we were facing.  They would probably be able to be in regular classrooms, do regular work, and be fine cognitively.  But then I was sobbing again, because the thought occurred to me that they were going to have to face the challenge of being "different" on the outside, and the social ramifications of that took my breath away.  I was already aching for them at the very thought that they may have to endure teasing because of their skin/hair color or because they wouldn't be able to see very well and have to use adaptive equipment.  What if they couldn't drive?  What if they couldn't play outside?  What does 20/200 vision look like, functionally?  Would they be able to play sports, music, participate in scouting, do all those "kid things???  My head was spinning as I tried to imagine what this was going to mean for these two.  The thought that they would have to go through these hardships made my heart ache for them, because (like every parent) I couldn't stand the thought of them getting hurt.  I know that's not realistic, but that's the parenting instinct - to protect your offspring.  These thoughts left me crying all the way home.  Our pediatrician called us back that evening, and after I told him all the info, he apologized to us for not being able to give us some kind of warning that this was what we might be hearing.  He admitted that he had been baffled by the nystagmus.  He had seen the pictures of my husband when he was a newborn, and saw how his hair matched Sam and Rachel's, so albinism had never even crossed his mind.  I was really touched by that.

We pulled ourselves together, and got our babies dressed up for their first Halloween and went to my in-law's house.  There, we hashed over the day's events with our loved ones, and their perspectives helped me each time.  I think my mom had the biggest impact on helping with my acceptance.  She has horrible vision - is legally blind without her glasses - yet she lives a perfectly normal life; she can drive, read regular print, everything.  Sam and Rachel were going to need sunglasses, hats, and lots of sunscreen, but they would still be able to enjoy the outdoors.  They would need glasses to read and probably have IEP's in place to receive assistance from vision teachers, but that wasn't a big deal.  The only point that neither my husband or I could accept was the cutaneous albinism.  They looked so much like Kevin's baby pictures, and had beautiful blue eyes that matched his eyes perfectly.  Rachel's eyes are even darker blue than Kevin's.  And their skin wasn't that much lighter than their cousin who was 4-months younger.  So I convinced myself that they had oculo albinism only, and wasn't going to budge on that until or unless the geneticist could show me some proof.  We began our road of acceptance and just kept counting our blessings.

We made it through the MRI, with everything coming back normal.  We saw the geneticist just before the twins turned 6-months old.  He was one of the most well-known geneticist's in town, the president of one of the institutes devoted to children's health, and had studied albinism with some of the premier physician's in the country.  So I knew that he would (FINALLY) give us the answers we wanted.  He had reviewed the MRI and the pedi opth reports before he came in to the room (followed by an entourage of residents), and immediately put us at ease.  We told him our doubts about OCA, stating that our internet research had led us to believe that they had OA.  He politely asked us to lift up their shirts, and pointed out that their nipples were the exact same shade as the rest of their skin.  He also pointed out that Sammy did not have the linea alba in his private area.  He told us that these were two highly pigmented areas of the skin so therefore the most indicative of OCA.  He went on to explain that they had OCA-type 2, based on observations of these areas because there was some pigment.  He also said that their eye color supported this diagnosis.  He offerred genetic testing to be sure, but basically told us that would only be necessary if we needed to know for sure.  He told us that they both had a mild for of the most mild type of albinism, and said that their vision would be closer to 20/100 uncorrected.  He had an interesting explanation for the nystagmus as well.  He said that in children with OCA, the vision centers of the brain are lacking connections to each other, so the eyes basically work independently of each other.  One eye will look at something, and then the other eye would focus on the same object.  Kind of like playing "camera 1, camera 2" with one eye open at a time (think Wayne's World for all you Generation X's).  This also leads to difficulty with depth perception and is the biggest hinderance to being able to drive.  His explanation made sense related to Rachel's nystagmus, because her eyes really did seem so switch from one to the other when looking at things.  I couldn't see that with Sam's more pendulous-type nystagmus though.  He spent time with us answering questions about everything from vision/acuity, Early Intervention services (which he highly recommended), the glasses (which he subtely pointed out were glorified sunglasses right now), and the kid's potential futures (pointint out that they would be "normal" kids with some vision issues and fair skin).  He also dropped a little nugget that in his experience, most kids with albinism were very intelligent. His genetic counselor gave us boat loads of information about albinism, and they said that we wouldn't need to see him anymore unless we had questions.

His information was the last, final piece we needed to accept the diagnosis and begin to move passed it.  I understand that Rachel and Sam are going to have challenges in their lives, but...who doesn't?  At least, in this case, we have a good idea what to expect and can start preparing for it.  I still get sad when I think about the chance that they may not be able to drive, which is so huge for teenagers.  However, I don't worry so much about them getting teased for their light skin or hair.  Their hair is getting some yellow tints to it, so i think they are just going to be really strikingly pretty.  The nystagmus could be difficult in social settings, especially new ones.  But these are not earth-shattering problems.  They aren't even life-altering (too much).  We're still going to play outside - we'll just have to buy stock in sunscreen!  We're still going to expose them to all sorts of activities - and we'll see what they can do!  I have come to accept this part of my children, including the part that our next baby has 25% chance of having this same presentation.  Things could be a lot worse!!

I have really come to rely on the information and support that I've found through NOAH, and can't wait to attend the next big conference so I can meet other people who are going through similar situations.   This support has helped me along this road, and will continue to be a regular ally.  So thanks for reading our story, and I would love to hear/read any other comments from people who are going through the same things or who have heard other things about OCA. 

 

PS - I know that there were discussions on the forums after I mentioned the whole "diagnosis via nipple check" thing, and I agree whole-heartedly with the people who say that this is not a sure-fire method of diagnosis.  Our geneticist happened to be very familiar with albinism, so I trust his information, but it may not apply to everyone. 

 




 

 I’ve always known I wanted kids.  I was an only child and ALWAYS wanted a sibling, so I swore, I’d have lots of kids.  Fast forward a few years and reality sets in. My reality is that 2 kids are MORE than I can handle.  

My husband and I both have albinism. We have a girl, 7 and boy, 3.  They both have albinism too.  Before you ask, yes, we did that on purpose.  We were 99% sure our kids would have the condition and we were 110% ok with that.

This parenting gig can be challenging, I have the unique advantage of understanding my kids visual condition, but I’m still rarely sure that I’m doing the right thing. Alas, I think that comes with the job description regardless of whether your child is normally pigmented or not.

I cherish the relationships I’ve created within NOAH.  I’ve learned so much from so many different people.  I hope by posting on this blog, I can share some of that knowledge with you, but I also hope you can educate me as well.

I’ll be back soon with something more than an introduction, but in the mean time think about what kinds of topics you’d like to see discussed in this space.

Gotta run, nap time is over!