several people have asked me if we had tests run to confirm the
prenatal diagnosis- since we didn't have an amnio. we roomed in the
first night, waiting and watching- holding our breath. when the sun
rose and jedi was still with us we felt we owed it to him to check and
see what, if anything, we could do to help him fight. chris
accompanied him to get an echo of his heart and an ultrasound of his
brain. he also had blood drawn for a genetics test called FISH- the
results of which wouldn't return until the following sunday morning.
the brain scan came back positive for semi-lobar holoprosencephaly.
the prenatal diagnosis based on ultrasound was alobar
holoprosencephaly. the ECHO supported the prenatal diagnosis- truncus
arteriosis amongst other things. one thing that brought us some
relief was that the truncus wasn't ductal dependent. the truncus
wasn't relying on the ductus(the bypass passage that is open in unborn
babies and closes within 24-48 hours of birth). so after the ductus
closed jedi wasn't going to experience a rapid decline in reaction to
saturday evening a geneticist visited our room. he did a physical
exam of jedi and asked us several questions. based on his findings he
suggested a diagnosis of either trisomy13 or trisomy18.
the neonatal physician came sunday morning and shared the FISH test
results. she said the test was inconclusive so they sent it on for
further testing. but what they did find out was that jedi was more of
a trisomy18 mosaic.
i will attempt to explain mosaicism. they took 60 of jedi's cells.
they looked at the amount and number of the chromosomes in each cell.
each normal cell has two of each of the 23 chromosomes. trisomy means
there are three chromosomes. the number(13,18,21) following the word
'trisomy' is refering to which chromosome is tripled.
so they took 60 of jedi's cells and looked at the makeup. 30 of them
were found to be trisomy18. and the remaining 30 were found to be
normal-having 2 of each of the 23 chromosomes.
so it's a better diagnosis- genetically. but looking at ALL the
tests, the good genetic news doesn't change the heart news. and
anything invasive and aggressive, like a heart surgery, would likely
kill jedi. truncus surgery on a healthy child is very difficult- and
it's actually not one surgery but a series of surgeries.
so those are the findings-
he is doing good today- praise God!
he continues to tolerate his feedings. he is breathing nicely. his
color fluctuates- but we are finding it's positional. he doesn't like
being upright against my chest. He likes to be laying propped up on a
lap or cradle held. he continues to open his eyes to look around at
the world around him. he likes faces and lights- much like a normal
as always- thank you much for your prayers and support. the meals
have been great and leave my caretaker little sister free to do other
things around the house- not to mention taking care of her own 4 month
she is super awesome and i thank God or her every day. and thanks,
mom and dad, for not stopping at 10 children- but being open to eleven:)