"We are just so
relieved with our decision not to terminate our pregnancy
based on this diagnosis via amnio. Like a lot of people have
said most do."
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Update 8-25-09
We actually went to the Genetic counsellor yesterday, just wanting
someone to confirm that we would never be touched by Trisomy 13 with
Georgia.
He examined Georgia and said there is no reason why we shouldn't
think she is a normal child. She is meeting and exceeding her
milestones. He did however say that she could have T13 somewhere, we
just don't know where and if it was serious that it would have
already presented itself. So from here on in, we are going to be
mindful of the T13 result but assume she doesn't have it and from a
medical point of view the tag has been removed. She is a normal 12
week old with reflux and that is it.
We are just so relieved with our decision not to terminate our
pregnancy based on this diagnosis via amnio. Like a lot of people
have said most do.
Thanks for your support
Sam
- - -
Update
6-14-09
Our little miracle!
We have now received Georgia's full results and she has no T13 in
her! We are overjoyed and never realized that this was even an
option for us. We believed throughout that pregnancy that she had
T13 mosaic because that is what the amnio results showed. I
requested that the placenta be tested prior to Georgia's arrival but
unfortunately in theatre the instructions were not received and the
placenta discarded!
Obviously the hospital is investigating this and are going to review
their procedures. So we will never know if it was in the placenta or
a results mix up at the lab! All we need to concentrate on now is
the fact that we have been fortunate enough to a healthy baby girl.
Currently she is still in the special care nursery at St John of God
hospital, this is because after birth she went into respiratory
distress, this was a result of arriving early, she also has jaundice
and is struggling to gain enough weight to be discharged. Such a
sleepy baby. We are still so thankful that this is all that is
wrong. The nurses have been wonderful with us and can appreciate all
we have been through.
Thank you to everyone here for their support during this time. I
wish you
all the best with your journey.
Thanks Sam
- - -
 Update
6-5-09 Just providing an update on our miracle Georgia Grace who
ended up arriving on Monday 1st June at 5.30pm.
She is just beautiful and has a gorgeous temperament. She was born
weighing 5pound 8ounzes. She was initially provided with oxygen but
that was only for a 48 hour period and since then she has been
thriving. She is even breastfeeding each feed with only a top up
provided for weigh gain and to flush through her jaundice. Currently
we are waiting for test results back to see if she needs
phototherapy for her jaundice.
At birth we requested that she be tested for T13 again along with
her placenta. So far, we have the FISH results back which show no
sign of T13 in Georgia! Of course we are now waiting for those
results to be confirmed in two weeks, but we are absolutely over the
moon. She has nothing medically wrong with that is related to a
chromosomal syndrome and no physical anomalies. We just don’t
understand how an amnio result can come back as positive for T13
mosaic and then she not have it, we can only call it a miracle.
We are really in shock and overwhelmed with joy.
Thank you to everyone here for their support. I of course will
provide another update once the results on the placenta and on
Georgia are received.
‘All of God’s Grace in one little face’
Sam and Rob - - -
My name is Sam – 33 years old, I am due on 23rd June 2009 but
have a c-section scheduled for 9th June 2009 at 7am.
We are
expecting a little girl who will be named Georgia. I had a combined
maternal screen due at 12 weeks and the risk came back as 1 in 247
chance of having T18. We weren’t going to bother with an amnio but
our sonographer on the day found an echogenic bowel and suggested we
proceed.
We had our 48 hour results (FISH) come back as all clear, only to be
devastated 2 weeks later when my OB Brian McCully rang to let me
know that she actually has Mosaic Trisomy 13.
Since then we have had a scan at 20 weeks and 28 weeks with no soft
markers at all and she is currently in the 60th percentile for
growth.
I also have a 3 and half year old daughter Abbey is looking forward
to being a big sister and a very supportive hubby Rob.
We live in Geelong, Victoria, Australia.
At this stage we are feeling anxious, no idea what to expect of
course.
My email address is
sam@cranesafeservices.com.au ( I would be happy to hear
from anyone)
Thanks Sam Mullan and Rob Slaymaker
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