Another months gone, and good news to report: We had a test (CVS) done for prenatal diagnosis of the pregnancy, and already the day after, the hospital called us with the result. "We only have half of the answer for you - the result of the gender analysis will not come around until next week. But ... the child you are carying is not affected with FA". I had to sit down on a chair to swallow the news - we are just so fortunate, that we this time seem to be lucky! A little more than a year ago, we decided to end a pregnancy of a little girl, who in week 20 was diagnosed with FA, seemingly with defects worse than in Sebastians case. And last summer, we lost yet another pregnancy, spontanously in the 8th week. So we have been starting to doubt the 'rules' of an autosomal recessive disorder: 25% affected children, and 75% non affected!
Yesterday we found out that it is a little girl that we are expecting. I have had a little suspicion of this all along, as I this time (as well as last year with the other little girl) have had quite my share of nausea. I have heard this from other women, that when you expect a girl, you more often suffer from nausea. But this is probably just womens talk ;-)
Yesterday we went to see Sebastians hematologist, for normal control. CBS was fine and within normal ranges. Great! We had a few points to discuss with the doctors, not least after having been to New York, where we met up with other Fanconi specialists. It is interesting to consult with different doctors on the many and complicated questions regarding FA. The hematologist was very friendly and open minded. We are - naturally - still very keen to dig deeper when it comes to the question of a possible donor for Sebastian, if and when he will need to go to transplant. However, the laboratory are now about - on the basis of the CVS - to see if they can tell the HLA-type of the girl, that we are expecting. She has 25% chance of being a match for Sebastian, which we of course cross our fingers for. We will see.
Sebastian is doing great, and is just the sweetest little boy. He (and we!) loves it when we take him into our bed in the morning. He will just lie there and give out hugs and kisses - and be VERY lazy when one of us finally suggests that we should get up and make some breakfast. We have just told him that he will become a big brother around Christmas (baby due on the 23rd of December!) and he responded by gently patting my stomach and saying: "when she comes, I can kiss her". Sigh!!!
