Albinism

blueberrymomma

So at Camdens 2 month appointment the doctor noticed he has nystagmus in his eyes and referred is to an ophthalmologist 
Well after 2 hours of having eyes dilated and shinning lights in his poop sensitive eyes ophthalmologist said he didn't have any vision problems but the color of his optic nerve and his skin and hair coloration indicates albinism (aka albino). She said she was 90% sure but wanted to retest his eyes in 3 months and put in a referral to genetic testing. Then the next day our primary doctor called and wanted to refer DD to genetic testing as well since she has the same coloration. Some of you probably already know my kids have white hair, white eyelashes, white eyebrows, and are very fair skinned.

Whats nerve racking is waiting; three months for eye testing, and up to 6 months for genetic testing before I get any answers. Also DD will be 3 in June and no doctors have mentioned this before
I just needed to get this out of my system before I burst 
Heres some pics of my kids. I knew they were fair but I didn't think they were albino.
DD with aunt

DD with her cousins
DS in some sunshine 

DS last night 

smushi

I have a high school friend with the same eye color, hair color, and complexion.  He also has nystagmus.  I don't believe his doctors identify him as someone with albinism because his eyes are blue, but he told me before that he has all the characteristics except for the red eyes.  Never bothered him.  He just wears heavier sunscreen and has always required specialized glasses.

I should add that your babies are adorable!  Those wispy long eyelashes!

blueberrymomma

I just realize this posted twice. Oops!

Thanks! @smushiFrom my research not everyone has red eyes it's just a stereotype.  But I already load my daughter up with sunscreen and try to make her wear hats in the summer.

egraves4

Your babies are absolutely beautiful!  Is there anything they particularly worry about with albinism that would be concerning?  Obviously with them being so far skinned they are going to need lots of sunscreen, but most babies do anyway!  

VitaLuna

Just at first glance, your daughter does look like she could be albino. But, of course, that is nothing scientific but my eyes! I've worked with albino kiddos at summer camps before, and they never had any issues but needing extra UV protection (hats, long sleeves, etc). I don't know much about it, though. Beautiful kids! 

blueberrymomma

The big concern is their eyes. There's lots of different eye problems ranging from minor to legally blind. Like nystagmus DS has. I've also noticed DD holding stuff really close to look at(before the albinism came up) and was going to ask her doctor to check her eyes.  They also have a higher risk of skin cancer 

I actually recently got my windows tinted for my birthday because my kids are so sensitive to light in their eyes

mrscammack

I don't have anything to contribute as far as albinism since I have no experience with it but I could resist commenting to tell you those babies are gorgeous! Hopefully they are able to find some answers for you so you can make sure they get any extra help and care they might need. 

blueberrymomma

Thanks everyone who said nice things about my kids. I love the way they look and wouldn't change it. I just hate the waiting game

Fullerj21

I'm sorry about the waiting, but just wanted to say your kids are adorable. I love your DD's curls! 

4N6s

Beautiful kids!

FutureMrsCaesar

I agree your kids are beautiful!  Mind are blond as well and I know one for sure has a very light optic nerve that shows up in pictures as a white spot.  I actually freaked out and took him to the pediatrician when I first noticed it in pictures because it can be a sign of a certain type of cancer, but the dr said it was fine and kids with their coloring can also have very fair optic nerves.  I never even knew that was possible.
anyway I hope everything works out for you and the time passes quickly until you get your answers!

g8trkim

Beautiful kids! On first glance, yes I would have assumed your daughter was just in comparison to my former student. Your son doesn't look quite as fair to me. I can see why the vision and sun concerns would worry you so fingers crossed everything is fine. I know lighter eyed people are generally more sensitive to light so it could be that also. Best of luck to you and those cute kiddos!

blueberrymomma

So I just wanted to update everyone about my kiddos. We went to a genetics Doctor yesterday and he confirmed that both my kids have albinism. 
Its not a big deal to our family, I mean things could be a lot worse. Just have to stay up on their sun protection and eye checkups. Right now Camdens eyes are healthy besides the nystagmus. Lily has an appt in September to see if she needs glasses( we're pretty sure she's farsided and want to get her eyes taken care for the start of preschool). The hardest part for me is educating the extended family on this....repeating myself constantly is draining.
Some of you may wonder the odds of two kids having albinism. Well apparently my husband and I are both carriers of the gene. So everytime I'm pregnant there's a 25%(1in4) chance our child will be albino. So I guess we're just extra lucky.

michelle_bird

I'm glad you have answers and the resources to accommodate! I find genetics fascinating so thanks for tacking that on. Your kiddos are so cute!

blueberrymomma

Thanks! I have also always found genetics interesting

Cristi1keane

Hi, I lurk but never comment but thought I could be helpful here.  My third son has nystagmus as a result of pale optic nerves and was diagnosed with ocular albinism.  I was so worried about him as a baby and wondered if he'd struggle because of his vision but I'm happy to say that he is now an amazing 7 year old boy and he is not limited at all by his nystagmus.  He excels at reading & writing &  plays baseball, soccer, basketball etc.  I wish I hadn't spent so much time worrying when he was a baby.  Your children are beautiful and everything will be ok!

blueberrymomma

Thanks @Cristi1keane ! It's nice to hear from another mom.