NOAH AOC

Im interested to know about others experiences.

I have 2 gorgeous OA boys 22mnth and 4 mnth and genetic counsellor suggested to get a blood test done on 22mnth old to see if Deans is actually OCA.  I live in a small country town in Western Australia and do not have much confidence in the resident docs/nurses drawing blood out of my 22mnth old with any chance of him sitting still for it causing a riot in the hospital. Will it really make any difference to him/his situation if we wait another couple of years to find out exactly which type of albanism he has? he is very fair anyway and suncare is something necessary for everyone in this hot country so its not as if I wont be keeping his glasses,hat, sunscreen on...  

to test yet??  or to wait until he is old enough to cope with getting blood drawn?

PS how do i get remote avatars enabled?

Were they born with white hair, that would be OCA,

Were they born with yellow hair 0ca1b or 2...

Our son was diag when he was 4 months old. They said it was OA only. I knew in my heart he also had it in the skin. My son has yellow hair and deep blue eyes. His test can back normal for the x-linked (OA). Since his eye is getting more yellow and eyes a deeper blue we think he most likely has OCA1b. That is the blond or yellow version of  albinism.

It is up tp you about the testing, but the hair is a big factor!

When they did the test, they took some blood from the foot, he did not make a peep...

I do not want to have my kids tested because I know it will be very upsetting for them but I know I need to get them tested for Hermansky Pudlak.  My son is scared to death of needles and my daughter has been through enough so it is really hard to do it.  I am searching whether I can wait until they are older to have them tested  for HPS. I assume my kids have OCA1b because they have some pigment and dark eyelashes.  Nothing would change for their care if I had them tested for what type of OCA they had.

Hi,

I have to say that if Dean has OCA1A or OCA1b means nothing, as far as treatment is concerned. It certainly does not make a differance, which genes are involved. It will simply be paperwork.

The visual aspects of OCA are important to pay attention to right now.I realize you live in a hot climate and the uv rays are blazing. However, sunscreen should be applied to every little one, regardless of the pigment of the child. I don't think people realize a tan is skin damage as well.

To test yet...I think it is unnecessary, unless you need to know.

hi thanks for your response.

Dean was born with a really bizarre sterling silver colour that went blonde soon after - every sinlgle midwife in hospital said they had not seen anything like it. Drew was born with the silver tips but blonde underneath and now he is a slightly strawberry blonde. definitely wasnt white and both have deep blue eyes.

lots of things to consider about the testing.

My son was tested at a couple months old but I do not think it is really necessary because the type makes no difference in how you would treat any child with albinism (sunscreen, hat, sunglasses, vision help). BUT if you decided to have it done go to a childrens hospital (if you have them where you live) to have the blood draw. They deal with children and childrens veins all the time so have tons of experience and even special equiptment to earily locate the vein, that is how we had my son's done and it was quick

Bryns hair is grey. We didnt get the white or yellow. Her hair is as grey as my 65 year old father LOL.

Actaully, it doesnt have any real colour to it at all. Its not white, but there is no colour to it. It looks like ash at the end of a cigerette.

She has OCA2.

I would only check if there was a chance that they could have one of the more serious syndromes like HPS.

For us, the only reasons to do the genetic testing were that we wanted a definitive diagnosis and we wanted to be able to test others in the family to find out if they were carriers too, for their own information.  Having said that, our results came back inconclusive as happens to many people so we still have to go by the PO's best guess (some form of OCA1 probably) and no one else in our family can be tested.  The test itself was very simple--we also did it at our local children's hospital and it was quick and easy.  Not in the foot--it was done in the arm as adults are--but they used a butterfly needle which was extremely thin and it was over before we knew it.  As the others have said, the results would not have changed our care for our daughter.  We still would have used sunscreen and made sure she got accommodations in school and other settings.  And as far as coping with blood getting drawn, our peds have the kids blood drawn every year as a routine part of their check-up and I can tell you that no kid ever seems to be old enough to cope with that.  Even when our son was 8, he carried on!

BTW, our daughter was also born with that platinum hair that every nurse in the hospital commented on.  We called her our little surfer.  Now at 6, her hair is definitely more of a very pale yellow and she does have some pigmentation in her eyelashes and a couple of freckles here and there as well.