We took Frankie to his geneticist last week. We had been there 2 years ago and he
had one mutation on the OCA 1 gene, so he said he probably had that, but not
100% sure.
Today he told us that he does not have OCA 2, that was ruled out through genetic testing. He are going to test for 3 and 4 and revisit 1. I guess it is odd that only 1 mutation was found.
I just want to rule out HPS, Hermansky Pudlack Syndrome, characterized by bleeding tendencies and lung problems. He said the genetic testing for that was not too
accurate, only 10 % correct. But they can do a blood platelet test, but he
wasn't sure who even did that test.
I have found out from my kind online friends that there is a doctor in MN that will test the blood through electron microscopy. So when I get the results of OCA 3 and 4, I am going to ask for the HPS test, as well.
Frankie will have to have another blood draw, not looking forward to that after all the trauma from surgery! So we will wait a month or so. Poor little guy is so afraid of things now, I think he thinks everything is going to hurt him, like the surgery did! : (
2 comments:
Hey Susan,
Call Donna at the HPS Network - she'll get you set up with the HPS test - we have the instructions etc. But, if Frankie is found to have another type of albinism confirmed, you're in the clear.
Thanks Heather!
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