Why?
Well, it
seems as though the future is at Baylor College and we want to be a part of
it.
Let me
explain.
Since even before
birth it has been suspected that Zeta has some type of midline (or central
nervous system) ‘syndrome’. Thing is, we
haven’t quite been able to figure out exactly what it is. She was initially clinically diagnosed with
CHARGE syndrome (which seems to match her pretty closely), but then they kept
finding more things ‘wrong’ and she
did not have the CHARGE gene mutation (although many children classified with
CHARGE syndrome do not have the mutation)…..So the CHARGE diagnosis was
retracted and she became officially undiagnosed with multiple congenital anomalies - or a CHARGE-like syndrome with hypothalamic
hamartoma - for all intensive purposes. Did you get all that? The brain tumor kind of
threw a wrench in things because it is so rare……at one time we became pretty
sure that she may have a different syndrome called Pallister-Hall, but she
tested negative for that too. In the
mean time she has been tested for many other syndromes and disorders – each one seemed to sound more
terrifying…..with all sorts of scary information and expiration dates (really,
that’s what they call the age that your child may be expected to live). Lately, we had got to the point that we felt
as though we were hitting a brick wall with all of the genetic testing. Our Geneticist shared our feelings and
suggested that we wait for a new test that would be available to the public in
the next few years……whole exome sequencing.
This test, he explained, would be able to look at all of the genes and
look for all of the mutations that could be causing issues for Zeta. The hard part would be making use of this
information. All of us, most likely,
have some types of variability in our genes so knowing which mutations are of
importance is key.
…..Enter
Baylor College of Medicine Genetics Laboratory……
BCM now offers
Whole Exome Sequencing – the test our Geneticist told us about……..a test that
hopefully (and prayerfully) may give us more direction and answers…..so this is
my new initiative.
Thankfully,
we don’t have to actually GO to Baylor.
The blood will be drawn at MUSC and then sent out to Baylor.
The tricky
part is in hoping that insurance covers the service. The next part lies in exactly how much faith
and hope I put into yet another test (which, obviously, is NOT where my hope
and faith should be held).
Whole Exome
Sequencing is relatively new to the general public, yet its benefits have
exceeded many expectations. Some
families have been able to find out exactly what the problem is AND therefore
how to ‘fix’ certain things. I’d venture
to say, though, that not all families have been as lucky. Wouldn’t it be wonderful to KNOW what causes certain
problems and then HOW to alleviate those problems?........but…..would it be ok
to hear that there is not a way to
fix the problem………would it be ok to hear someone give an expiration date on my
child……….would it be ok to give her yet another label………….would it be ok if we
don’t find out anything new at all??? What if it changes everything……..what if
it changes nothing…….
So, yes the
future is here….and almost at our reach……and while I’m excited….I’m also not so
sure that I want to know……..
Isn’t that how we feel in our spiritual life
sometimes too? I know that there are
times I am very confident in what my future holds………… and then there are times
that I feel like I may not be doing everything that I should………….. and then I
start to worry about the future. When
it comes to exactly what the future holds after death I know that I’ve accepted
an invitation and that God has made a promise…..but still….for me…… a lot of it
rests on complete faith……The great thing is…..that faith is what makes me ok –
and confident - about what my future will one day hold….
…….and just
think…….even if you’re not so sure……..what
if it changes everything?
Does it even matter? God chose you to give this little gift to and not just to you but to the whole world. The medical world, the physical world, the knowledge that your precious little angel has put forth by no means of her own, by no means of your own but a God given miracle that if he wanted to take her with him he would have already done that. Does it even matter what the Doctors or blood test say or read? Your fears and dreams has been tested beyond what any human could ever face alone. This little miracle named Zeta is giving so much to many people. She has taught and tested so many in so many ways that only God could have a plan like that and he chose only a mother and family that could do this. Many tears have dropped and love still conquers all. Each diagnosis is a closer step to healing other babies and their families who will also learn extream faith just as Zeta has taught those of us who follow your steps, your every words. We pray with you (and your family) we pray over you and we as your audience, you have our attention. We wonder how you do it, where does it come from? Does it really matter, we know God has a plan for Zeta, a great plan, for her footsteps are directed by the Lord.He has not allowed you to go thru this so that he can just take her away.He will not, He will make a way as he has time and time again, no matter what timelines the doctors may give for they don't know what is going on anyway, they keep guessing. But God knows the plans he has for her and they are great ones and one you will be able to rest and know that Zeta has brought much to so many. She has taught those who wouldn't... to give. She has taught many who couldn't... to pray. She has taught the medical world so much they never knew. Be anxious for nothing for tomorrow holds enough worries. She was born a teacher as Jesus was and she will always be a teacher as her mother is. It does not really matter the doctors diagnosis for Jesus is the healer, the Master and His plan is the only diagnosis that matters and he says that he has come to give life in abundance to the fullest until it overflows. We look at you and your family and pray great blessings over you. We think we could never live thru what you have. But you have and you will and one day your tears will be full of joy and happiness as you see your little angel teaching on her own by herself and that is all that matters. God Bless You
ReplyDeleteWe are praying for you all..
ReplyDeleteMr. Dean & Ms. JoAnne