It's negative!!!!!!

It's not VCFS!! It's NOT VCFS!!!!!! Whoohoo!!!!

I'm really so so so so so happy, and so relieved!!

Gosh, I feel like flying. Like I'm light and airy and filled with happiness big enough to lift me off my feet!! :-)

I didn't realise that it weighed on me so much. The threat of it being VCFS. Wow. And now it's proven not to be that. Wow. After worrying months and months, all it took was a blood test, a little more than a week and a couple of thousand bucks. Gosh, wish we did this in November already last year! Could've spared me ALOT of sleepless nights!

Not that we're totally in the clear or anything. No answers still. In fact, we're pretty much back to square 1. But, I'm really just so happy it's not VCFS. I just didn't want her to have such a heavy, complex, difficult diagnosis. And the road for children with VCFS really isn't easy.

So what now? Well, we don't know. In the letter the pathologist lab sent, they proposed that we do a chromosomal analysis. This will also cost about R2000. It gives an overview of ALL the chromosomes. The test that we just did, was only to look at a few bands on the long arm of chromosome nr 22. Nothing else. Not the rest of the chromosome nr 22, not any of the other chromosomes. Just nr 22, just the long arm, just 2 bands on the long arm (the 11.2 band as well as a control band). So it was really just a tiny piece of that one chromosome.

The chromosomal analysis will look at ALL the chromosomes. But, it means they can't "zoom" in on any one of them really. So it will only pick up gross defects. Like when you have a huge piece missing, or an extra arm, or a translocation, etc. Or like with Down Syndrome, when there's a complete extra 3rd copy. So even though the pathologist lab proposes this, the geneticist doesn't think it's worth the money. She said (and we agree) that Boeboe just doesn't show the signs and symptoms of a child that has something hugely wrong with one of her chromosomes. She just doesn't have the facial features or the obvious birth defects they're born with. Like club feet, heart abnormalities, cleft lip, missing limbs, etc. Hers rather point to a small number of genes that went haywire.

So I believe she rather have a small microdeletion or microduplication. On one of her chromosomes. Microduplications and - deletions cannot be seen on a chromosomal analysis test. A micro array test will give a better chance (though alot still gets missed with those too).

So how much time, stress and money will we put into this? I don't know. For now, we just revel in the fact that it's not VCFS. And then we'll decide the way forward. The geneticist wants to see us in a week or 2's time. So I guess we'll sit and decide then if we want to continue this process, and which way is best. In the meantime, we have to decide if we want to do the chromosomal analysis or not. While they still have her blood. So we only have a day or 2 to decide. So far, we're leaning towards not doing it.

I looked at Boeboe today, and it felt like I just got my daughter's future back. I know, it's illogical. I know that there's still things wrong with her genes. So why does it make such a difference if it has a "label" like VCFS or not? Well, because I now have hope again that she might one day have children of her own without needing to worry that she'll pass VCFS on to them. I now have hope again that she'll develop into an independant woman one day, living on her own, holding down a job, marry, etc. It's not that VCFS children doesn't have that hope, it's just that statistical speaking, her chances would've been a bit lower. Chances for a normal mainstream highschool would've been much lower. Chances for cognitive decline would've been a bit higher. Chances of developing schizophrenia.... well, in the normal population you have a 1% chance. Amongst VCFS children, it's more than 30%!!

Ag, there's just so many, many, many worries that, at this moment, seems to have vanished. I'm sure tomorrow or next week I'd start worrying again. But for this moment, I want to celebrate and jump in the air and be happy! Her future is bright again. She has a future again. When last week, it was dark. I'm so so relieved.

Yes, I still believe that she doesn't just have random genes that for some reason went haywire. I still believe the damaged genes that caused her tethered cord, her tearducts that isn't working, her hooded eyes, her "weird" spidery fingers, her misshaped kidney, her narrowed urethra, her awful reflux, her trouble feeding as a baby, her difficult pregnancy with the placenta that just died, her sleep apnea and difficult newborn days, etc. All of it is interlinked. I believe all those damaged genes are situated next to each other on one chromosome, and that they either got damaged somehow, or deleted, or that she has an extra copy messing around with the cells in her body. So yes, we're not in the clear. The geneticist says there's genes damaged. I say that those genes are next to each other in a deletion/duplication. And I'd love to find it and name it. Is it worth the money? The stress? I don't know. At this point, I really just do not know. We'll see. We'll still decide.

For now, I'm just revelling in the fact that my daughter does not have VCFS/DiGeorge, and that that probably means that Monkeyman also doesn't have VCFS. I feel like jumping. Like flying!!!

We're on holiday. School's closed for the week. It's wonderful. We play games all day long. Outside, board games, card games, etc. The kids are having an absolute blast. And me to. It's lovely spending time with them. Peanut is in her element. She's going to feel so very lost next week, when they're back in school. But for now, we're just having a ball and enjoying it!