Well life has drastically changed since our last blog, but i believe this site will now be best used to give everyone updates on our new life status.
As many of you know, we are pregnant with our first child, she is expected to arrive Feb 12th 2011. This past week we had an ultrasound to find out the sex of our child- and found out we are having a little girl! unfortunately we got some unimaginable news alongside this....
the ultrasound shows that the baby has very short arms and legs (5 weeks too small) which is very severe this early in the pregnancy ( I am 20 weeks). along with short limbs she has really small ribs as well, which they think may be what is causing the baby's heart to be pushed over to the side a bit. the chin of the baby is underdeveloped and there is a thickening of skin or something along the back of the neck. Then her feet are also clubbed.
with all these abnormalities, they are thinking it is some kind of genetic syndrome. At this point, we know that she will be a dwarf- there are over 150 types of dwarfism and it ranges from them being short but physically fine (like on TV) to a severe fatal kind where they die from it. Our doctor thinks we are somewhere in the middle of the two more towards the end of severe/fatal, since it is showing so early in pregnancy.
They did an amniocentesis (where they stick a needle in thru my belly to the amniotic sac and take out amniotic fluid) which was super scary and put me at a risk for miscarriage. this fluid will was sent for a few tests. the first tests came back on monday- which was negative for Trisomy 13,18 (fatal genetic disorders) and 21 (downs syndrome)
the major one we are waiting for is FGFR3- which will not be back for 2 weeks. This is for the diagnosis that they are leaning towards-Thanatophoric Dysplasia, which is fatal within 24 hours of birth if she survives the womb. The reason they are leaning towards this is because her ribs are so small, it limits the growth of the heart and most importantly the lungs. These babies pass shortly after birth due to not being able to breath. There are a few parts of this diagnosis that she does not have currently, so we are praying that those differences mean this might not be what she has.
we will have a lot of resources out here through the Little People of America association, no matter the type. After the tests comes back in 2 weeks, if it is positive we will figure out a plan from there, but will carry her as long as God blesses us to do so. If it is negative, Tristen will continue to get ultrasounds monthly and all we can do is watch and wait what condition she is in when born (we are due around Feb 12). Even if the test is negative, if her ribs don't grow- her life is at risk.
We also wanted to let you know her name is- Sophia Rose Dinkel, so that we are talking of a little girl and not a baby with a syndrome. The rose is based on aaron insisting that she have part of her name after the most beautiful flower there is- "so she knows that we think she is beautiful, no matter what".
we thank you for all your thoughts and prayers. We will keep this updated as we learn more.
that Sophia's ribs will grow
that God will heal Sophia
that we can look past this all and love Sophia with all we have no matter what
strength for tristen as she grows this precious gift from God
strength for aaron/aj as he loves on both us girls
understanding of God's plan for us in this
we are still just going through the hearbreak of not having a healthy child, along with the idea of losing a child. we thank you for your support as we need it, more than you will ever know.
love- tristen and aj