History up till now...

In September 2008, we had our Ultrasound to examine the baby and find out the sex. We were trilled to find out we were having a girl and left the ultrasound with a strip of black and white photos to save of our baby.

A week or so later, a nurse from the midwife practice gave me a call and said the doctor would like me to return in a month or so for some additional ultrasound measurements, specifically of the baby's brain. I asked her if it was something I should be worried about and she said no. So I didn't.

We returned in late October to discover that the right ventricle in the babies brain was enlarged above normal. Normal babies have a ventricle that holds spinal fluid that is a size of 7 mm. Our baby's was 10 mm at our September ultrasound and 16 mm at the October ultrasound. Also, her kidneys were slightly enlarged. This brain issue is called ventriculomegaly or hydrocephalus - depending on how bad it is. At this point, we met with the perinatologist and genetic counselor and they recommended genetic testing - just for peace of mind.

We agreed to the amniocentesis procedure in November. In this procedure, a small amount of amniotic fluid is extracted from my belly and tested for chromosome abnormalities. Within a week we got the good news that the baby did not have Down Syndrome, trisomy 13 or trisomy 18 - the most common chromosome abnormalities. We were told it would take another week for the complete karyotype, but only very very rare types of chromosome abnormalities were left, so we were likely in the clear.

Turns out very rare is not rare enough. We learned that Baby Nora has a rare chromosomal disorder. It is called an unbalanced translocation. Basically, she has a bit too much extra of chromosome number 4, and is missing part of chromosome 8. The extra part of number 4 is attached to number 8. This abnormality is in every cell of her body. Although unbalanced translocations in general are only sort of rare, this very specific abnormality involving chromosomes 4 and 8 is extremely rare (maybe only a handful of reports in the world).

Basically, we have learned that kids with unbalanced translocations of any type can be expected to have a variety of physical and developmental disabilities throughout their lives. This is likely why she has the hydrocephalus and the enlarged kidneys. The extent of her cognitive delays will not be know until she grows up a bit.