Hello friends and
family. This has been one crazy week for us and we are overwhelmed in so many
ways.
Here's the details and
stats. Elianna Shirley Arica Schultz came flying into this world at 12:42am on
October 1, 2014. She was 7lbs 15oz and 22" long. She has dark hair.
She arrived a little
stunned and had trouble breathing and was rushed to resuscitation where they
discovered she had quite a lot of fluid on her lungs.
Once they had her
somewhat stable she was taken to the NICU (neonatal intensive care unit).
Within 24 hrs her lungs had cleared and she's been breathing room air. In the meantime
a host of other things have been examined and tests ordered to try and discover
what else is going on. She has been
described as having poor tone (she’s unusually floppy) and some other physical
characteristics that are cause for concern.
I started this post
before we found out the following information.
Elianna went for an MRI this morning.
This evening we went back to NICU for her 6:00 feed, and it just so
happened that the neurologist was in and offered to share the results from the scan
with us. We now have the beginning of a
diagnosis, there is still more testing to do to refine the diagnosis but we
know now that Elianna’s brain is quite abnormal.
The disease at the top of the list of possibilities is called Zellweger’s
Syndrome. Essentially it means that when
her brain was developing in the womb, there was a problem with the metabolic process
of cell generation. The cells need food,
either in the form of sugar or fatty acids.
In Elianna’s case, it appears to be a fatty acid problem, which means
that it is less treatable and has a poorer prognosis. No one could have predicted that this would
happen, it basically happened because of random gene mutation.
The doctors are doing
more tests to finalize the diagnosis, and they can’t tell exactly what it means
in terms of what Elianna’s life will look like but we do know it’s very
unlikely that she will live to see adulthood.
Here's a link with some info. http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm
The next months will
involve a lot of watching and waiting as we discover what Elianna is capable
of. Our current and immediate challenge
is feeding, which is happening through a tube right now.
We would appreciate
your prayers for us as a family as we figure out a new normal together and for
Elianna and her doctors specifically as they work to care for her as best as
they can.
Please check back here
for updates, which we will post as we are able.
We would appreciate not being asked a bunch of questions at this time,
we have more questions than answers ourselves.
What we have shared today is what we know right now, as more information
is uncovered what we know will change but that will take months and even
longer.
If you want to help us
and find ways to support us, you can also check back here. I will also post some of our needs as we sort
what it is that we would find helpful as we walk through this challenging time.
