Genetic testing

Last week while we were at the hospital for Anya's chemotherapy, Reese got to come and be a patient for a bit too. The time had come to get her blood sample for her genetic testing. We were lucky to be in a place and with a person who is used to taking blood samples from children. It is hard to get a blood sample from a child Reese's age because all the baby fat covers the veins pretty well, and this is one baby who certainly has some baby fat on her. The woman who took the sample was diligent about finding the right place, and all Reese's screaming did not bother her at all. Once she picked which arm she wanted, she swaddled Reese in a blanket leaving one arm out. Then I held her chest while a nurse held her arm, and finally she was able to get the sample. Reese was exhausted and fell asleep not long after.

Blood samples have already been taken from Anya, Will, and I, and hopefully our DNA is being sequenced right now. Bilateral Retinoblastoma is a genetic mutation, so Anya's results should come back positive. Neither Will nor I ever had tumors in our eyes and it is exceedingly rare that someone would have Retinoblastoma and be asymptomatic, so our tests are expected to come back negative. That in itself would give us a lot of relief in thinking about Reese. It would make Anya's case a spontaneous mutation, and the chances of Reese also having a spontaneous mutation are outrageously low. But we would like to be as sure as possible, so we are having Reese's genes tested as well. This particular test does not produce false positives, but it does produce false negatives. What that means is that even if Reese's test comes back negative, she will still have to undergo eye exams periodically. Genetic testing is a time consuming (and expensive) process, so we don't expect results back for another couple months. In the meantime, Reese will have an eye exam without anesthesia this month and will likely have another exam under anesthesia before we get the results back.