Wednesday, May 22, 2013

The results are in...

Truthfully, I've known them for over a week.  It's not that I didn't want to share, it's just too draining.  
You've probably guessed, the results were definitely not what we expected.  
I'll back up, but let me first give full disclosure-a lot of this does not make sense to me, sometimes it doesn't even make sense to the doctors.  
I'm pretty sure one of my doctors said the Blood Center of Wisconsin (which is where the blood went to) has only seen 3-4 cases of this. 

This post will be a lot of information, not necessarily in a coherent order-because there isn't an order to this, right now we just know what we know and know we want to deliver a healthy baby come August and find out more information then.
It's pretty hard for me to accept that I have to wait until August to have more answers.  And then wait some more....

At my last appointment with the highest of them all, he encouraged us to go through with a genetic testing panel that was not covered by insurance.  There was a testing option where 80% of the cost was covered, but it didn't test for one thing we were looking for.  
When I spoke with Dr. Wonderful, asking him what he thought I should do, because hey, we're talking a lot of money here, his response was that the one missing test might not make a difference statistically to know.  

We went ahead anyway with the test that would look for everything, and guess what-that one rare form of NIAT, that would not be checked in the covered panel, came back positive. 
My husband has an antigen that only 1% of the population has.  Now, it's a problem because I don't have that antigen.

So what do we know?
We know that the baby presented with something atypical that they think was a bleed in the brain.  
We know that based on the blood test my husband's blood and my blood absolutely do not mix.

Based on this information we are going ahead and diagnosing with NIAT.  
Here's the catch 22-you can't actually diagnose NIAT without blood from the baby.  The problem is-getting that blood is done through a risky procedure where they take blood from it's umbilical cord (it's called a cup, but I have yet to find out what that actually stands for). This is risky because if the platelets are low-it will cause another bleed-so it's not worth risking it for the information at this time when the initial treatment options are non-invasive.  

The non-invasive treatment is called IVIG infusions
Again, lots of medical info here-and I'm no doctor, although I do get to pretend and fool people into thinking I'm a doctor because I get to drive around with MD plates on my car.
(for those of you that don't know, in NY, you can register your car for all sorts of things-doctor, nurse, dentist, volunteer ambulatory service, livery service, all sorts!)
The infusions are weekly, and will last at least a couple of hours.  At first, they wanted to admit me every week to keep me overnight for observation, thankfully that will be a last resort.  
My understanding is that this treatment will lower my immune response towards the baby-but I don't know if the baby will just maintain it's platelet count or if this will allow the count to increase...

I will be seeing the highest of the highs once a week or once every other week.  He will be calling the shots on this.  Him, and 3 other high risk doctors, along with Dr. Wonderful are all working together.  We will probably bring on a pediatric hematologist because baby's have their mother's antibodies in them for 3 months, so if this truly is a case where I am attacking the baby, we have to watch for reactions after the baby is born.  

Now-once the baby is born, it will definitely get a platelet count, but I'm not too sure what additional info is needed to make a true diagnosis.  
In addition to that, the question has come up regarding future pregnancies.  
It is known that NIAT gets worse with each pregnancy.  We were very fortunate that this baby presented with only a minor bleed that seems to be healing on it's own. 

So-here are the possible scenarioes:
It's possible that my husband is heterozygous and there is a 50/50 chance of passing this on.  Maybe both, one, or neither of my boys have this antibody that I don't.  
I could have gotten lucky and fallen on the right side of statistics both times previously.  
I could have also fallen on the right side of statistics this time, and these are just coincidences.  
However, even if this is a false positive, we do know what we know about our blood now, and if this isn't what's going on now, it might be an issue in a future pregnancy.  
If my husband presents as heterozygous, then we can do PGD (genetic testing) on our embryos and take it from there.  
It's possible that my husband is homozygous and because of lack of sensitivity, the first pregnancy is a non-issue, the second one is worse, and so on and so forth.  This is a very minor presentation of NIAT, so they're thinking that this is so small, Dovy's could have been even smaller, so small we missed the diagnosis!  
Again, my husband and the baby need to be tested.  We'll have to meet with a genetic counselor to  determine our chances of this happening again.  

This is what we know for sure-if this is a heterozygous case, we'll test our embryos from here on out.  If an embryo presents with the rare antigen, we'll have to eliminate it. 
This is not a place where I will get into religion, or politics on the matter of reduction, discarding embryos, etc.  
Getting pregnant with NIAT could be a life-threatening risk to the baby-so it's out of the question. 
If this is a homozygous case, we'll have to decide: no more biological children, or use a gestational carrier for our remaining embryos.  

The next question is how to deliver?
Because the baby has a risk of bleeding, natural delivery is too traumatic. But, if the baby's platelets are above 100,000 they can allow natural delivery.  However, the procedure is risky, more risky than a c-section.  So that's why it is standard to just do the c-section.  There is talk of admitting me at 38-39 weeks, doing the procedure and either inducing or doing a c-section that day, with constant monitoring to make sure nothing goes awry.  They can't tell me what will be around the time of delivery-it all depends on how things look from a superficial point of view.  

Things seem to be getting better on their own, so the hope is that IVIG will just continue the healing process and we'll get a healthy baby out of all this come August and then we'll be able to get a lot more information.  

Phew...so many unknowns, so many ifs, so many wait and sees.  
The immediate plan is that I will have infusions the next two Fridays and see the highest of the highs June 5th.  This will be the first time we'll be meeting with him since this diagnosis. 

For now, I'm just trying to stay afloat...



4 comments:

  1. Nice post. I was checking constantly this blog and I'm inspired! Very useful info specially the ultimate section :) I take care of such information a lot. I used to be looking for this certain information for a very long time. Thank you and best of luck.

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  2. Oh man.....my heart is so aching for you guys. I'm so sorry. I'm praying for you. Many hugs

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    Replies
    1. I am constantly reminding myself of how fortunate I have been thus far and to keep my mind in the present. Thank you for thinking of me. I'm happy to hear things are going better for you with the sleeping. Sleeping troubles are the worst!

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  3. I'm so sorry to hear this. Keeping you guys and baby in my tefillot!

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