(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.