Bella's test results are in, I will try to explain them to you, what I can understand anyway. The results read
46,xx,der(14;21) (q10;q10),21
Interpretation; Abnormal Cytogenetic result
An unbalanced female karyotype with a Robertsonian
translocation involving chromosomes 14 and 21 and an
additional chromosome 21, resulting in trisomy 21, was
observed in 100% of metaphases examined.
Bella has Down Syndrome (DS). The type she has is translocation.
Most people have 46 chromosomes, a person with DS has 47. The most commen type of DS is called nondisjuction. This happens when a faulty egg or sperm has an extra chromosome. 95% of people with DS have nondisjuction. Translocation occurs when a piece of chromosome or a whole chromosome breaks off during meiosis (cell division) and attaches itself to another chromosome, usually 14. This makes up 4 to 5 % of all DS. Three forths of transloction are spontaneous, the other forth are inherited. (I've heard this number the other way around) Mosaicism happens after the cells start to divide, this is only 1% of DS.
K and I will get tested sometime before we start trying to get pregnant to see if one of us is a "carrier" of DS. If I am, our chances of having another DS baby are 1 in 10, if it's Kevin, 1 in 20.
If it was an accident we have a 1 in 100 chance.
Also, our little angel is getting better at latching on. We are still practicing, it works great in the shower, the water helps keep her awake.
Since this post has taken me three days ( I keep walking away) I will post it and anything else will have to wait, or get forgoten.
My Valentine's Day
17 years ago

2 comments:
Wow. I can't imagine how hard this has been for you. Thankfully, we serve a sovereign God who makes no mistakes, and created Arabella just the way He wanted her. Continuing to keep you in prayer...
I am glad to hear she is nursing better, and that you have had the patience to keep working with it.I did not know you could be a carrier of ds. I'd always thought it was just chance.She is so darling and little.
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