two bum lips and a crash hat, the story of my beautiful babies

I've decided to write this blog to inspire and help other Moms like me. I hope to provide support and some insight into our crazy world and stories of how I deal with the chiaos that is our life. While adding a touch of humor here and there. We've all got a story...here's how mine goes...

In my short four years of motherhood I've learned more then most. I have two beautiful children, Isabella, 4 years old (June 12,2007) and Donato, 4 months old (June 6, 2011) Both kids were born with a cleft lip and palate. Isabella's is unilateral (one side of her lip) and Donato's is bilateral (both sides of his lip) .

For those who do not know what a cleft lip or palate is, it is a birth defects that affects 1 in 700 babies. It is one of the most common birth defects where the upper lip fails to join and the roof of the mouth is missing, which requires numerous surgical repairs. Often times this is genetic, however in our case it is not. They considered Isabella's clefting a "freak occurrence." We were told that there was a 2% chance we would have another cleft affected child, and along came Donato, my beautiful boy.

After finding out about Donato's cleft at my 20 week ultrasound I had an amnio, as I did with Isabella and we met with a genetic counselor. We were advised that they can do a fish test which is a preliminary test to show that there are 2 of each chromosome. An early way to eliminate trisomy 13, 18 and 21. In order to fully understand this story I must tell you, scientifically, what a fish test is to fully understand. So excuse all the scientific mumbo jumbo:

A fish test is A technique used to identify the presence of specific chromosomes or chromosomal regions through hybridization (attachment) of fluorescently-labeled DNA probes to denatured chromosomal DNA. Examination under fluorescent lighting detects the presence of the hybridized fluorescent signal (and hence presence of the chromosome material) or absence of the hybridized fluorescent signal (and hence absence of the chromosome material). With metaphase FISH, cells progress through the division process until metaphase, when chromosomes are condensed and can be individually distinguished. In contrast to interphase FISH, metaphase FISH permits visualization of the actual chromosomes as well as the general location of the abnormality on the chromosome.

Okay so all that basically means is they send in colored probes that meet up with their matching probes. This test only tells you that the chromosomes are there and that there aren't any extra or missing ones. You should only see two of each. It showed Donato had 3 chromosome 21's which means down syndrome! Of course I freaked out!! My first trimester screening for downs was normal. How could this be???

What we finally learned (2 weeks after the initial news of downs) was the lab technician doubled dipped their probe. Try to stay with me as I explain, it gets tricky. Chromosome 21 is green, chromosome 13 is orange, those are on top and on the bottom is chromosome 18 which is also green and x and ym which tells the babys sex. The technician dipped the probe in 21 then 18, giving Donato 3 green's!! You don't mix the top and bottom! Not cool! You all still with me? So after a long two weeks of back and forth with the genetic counselor we found out Donato did not have down syndrome and a lab error had put us through 2 weeks of hell.

And as if all that's not enough to deal with...We found out this week that Donato has Plagiocephaly aka a flat head. He will be getting a helmet in the coming weeks to restore the shape of his head. At this point you really gotta laugh at all that is being thrown at us.

So that's the crazy that we have been handed. I'm sure you will all be able to relate in some way so enjoy!