Tuesday, January 24, 2012

MRI confirmation and more thoughts.

The MRI today wasn't too bad.  I asked before the procedure if I could lie on my side and the nurse said she didn't think that would be possible as they need to get things in a certain plane.  So I started out lying on my back.  After a bit (there were no timepieces, so not sure how long, but Mark who was in the room with me guesstimated 10-15min) I started feeling lightheaded, a bit queasy and clammy as if i was going to faint, so I squeezed the emergency bladder they give you and got the heck out of there.  I couldn't do another half hour of that, so i told them I had to lie on my side - and turns out that was fine.  So they gave me a bunch of pillows, and I was comfortable enough that I actually fell asleep (I was practicing my Bradley relaxation - guess it worked!)

After we were all done, the doc came out and told us that on his preliminary look at the scans there was nothing additional to what we had been told yesterday, but those findings were confirmed.

We then went to see the doc who did yesterday's ultrasound, and talked to her for about 45 minutes.  She said that at the u/s she wasn't sure if the corpus callosum was partially there or not - turns out it is completely missing, and the ventriculomegaly was confirmed as well, but the two are intimately linked (in this case, there can be other causes of the ventriculomegaly).  The MRI doc looked specifically for some other brain defects that can be associated with the missing corpus callosum and didn't see any of those (although he said that he would need more time and a fine tooth comb to make sure that some of the finer details are as they should be, like the infolding on the surface of the brain).

So we are *really* hoping that there are no additional abnormalities that are discovered in the next few days.  Please.

Then we spent quite a bit of time talking about what we might expect.  She said that if the missing corpus callosum is an isolated finding, i.e. no other abnormalities, there is a 60% chance that Truffle could be totally normal, or have such mild deficiencies that one wouldn't notice without them being specifically pointed out.  40% chance of some kind of developmental delay.  If there is an additional finding that comes out from the MRI, and perhaps the fluid on the kidneys is such an additional finding - it is unclear if the two are linked or not, then the chance of delays goes up to 70%.  The reason it's unclear is that the missing corpus callosum is not typically seen with kidney fluid, or vice-versa.  So it's possible that there is some underlying genetic issue like a trisomy of some chromosome that is causing both of these, which would put us in the latter category, but if it's just two random occurrences, then there is a higher chance that we would have no issues.

They offered for us to meet with a neurologist once the MRI reading is complete, to get a better sense of what the range of outcomes would look like; as a physician who sees patients he could give us perhaps a more complete picture based on his experience.

We could also do an amnio to find out whether there is an underlying karyotype issue that is causing these findings, but both my OB and the u/s doc said that if termination is off the table (which it is for me as I mentioned yesterday), they would recommend strongly against an amnio at this point because it could cause preterm labor - and in a baby with a brain abnormality, the last thing you want is additional stress and issues from prematurity.  So that, for me, is also out at the moment.  I don't see the need to have that information before he is born; perhaps afterwards as it might help us have a better idea of what to expect, but I don't think things will change much for a newborn so I don't think we need to know before that.

Mark's parents also know two people who had the same abnormality discovered via ultrasound, and both are completely healthy, functioning individuals.

So I think that overall, despite the confirmation of the missing corpus callosum, the information we received today (and what I found in some googling I did yesterday) is overall not as bad as I initially feared, when I heard, "an important part of your baby's brain is probably missing".

I'm fully prepared for us to have some struggles, it would be nice if everything worked out happy clappy, but I'm not going to bank on that, and I know that no matter what Truffle will be loved.  It seems to me that severe issues are unlikely (will get more info from the neurologist on what the "worst case" scenario would look like), and we will be okay.

Thank you SO much for all your thoughts, comments, and prayers - means so much to me to know we have so many people on our side.  xoxo.


♥ JAM said...

Keeping Truffle (and your whole family) in my thoughts and prayers.

Josey said...

I'm so thankful to hear that chances are so good that Truffle will be a normal functioning, healthy child. Lots of love and prayers headed your way...

Rebecca said...

I'm glad the doc wasn't able to see anything new in addition to what has already been identified so far. Hopefully his fine tooth comb won't turn up anything else either, and I hope you get reassuring information from the neurologist if you decide to meet with him or her. It sounds like you are handling this remarkably well. (((hugs)))

Thalia said...

Nico, that does sound really reassuring, and even if not taking the problem off the table, at least you now know what the likely outcomes are.

Fingers crossed you are on the right side of the numbers.

Spindoctor said...

Oh Nico, I am SO SORRY! My fingers are crossed that you get the best news possible at the end of this. My thoughts are with you. xxoo

Jess said...

I'm just seeing this now. My thoughts are with you guys as you go through this.

Jesse (SHG9 from FT)

Lisa said...

All these tests. It most stress you out.