24 weeks, 3 days - Ultrasound #4

We were hoping for a better prognosis today.  That didn't happen.  Hopes crushed.

If I were a 'look for the silver lining' kind of girl, this would be the silver lining - we had a different ultrsound tech today.  She didn't treat my tummy like dough to be kneaded.  She was much easier on me and Elliana.

One of the things I had hoped for was decreased fluid around Elliana's brain.  I've learned over the past couple ultrasounds what fluid-filled spaces look like in the brain - they are dark, black spaces.  So when the ultrasound tech started taking measurements of her head, I searched the screen for those dark places around her brain.  I was hoping to see small dark spaces.  Of course, I couldn't really tell if they were smaller or larger, but the tech told us the measurement of fluid behind her cerebellum was 13 (it should be under 10), and the measurement of the ventricle they're concerned about was 16 (it, also, should be under 10).  So... as soon as we heard those numbers, we knew things were no better.  The '16' is actually a little worse than 4 weeks ago.

During the ultrasound, one of the genetic counselors came in to give us some printed information about Tetrasomy 9p, and she tried to explain what Elliana's 9th chromosomes look like.  I didn't understand it correctly before. 

This is a normal 9th chromosome:  pppppppppppp--qqqqqqqqqqqqqqqqqqqqqqqq

Most people have two of those. 

But Elliana has 4 complete copies of this portion of the chromosome:
pppppppppppp--qqqq.

Those copies are attached to each other in pairs, mirrored like this:
pppppppppppp--qqqq/qqqq--pppppppppppp

So, she actually has no complete copies of the 9th chromosome.  They're partial copies, attached together. 

This happens randomly.  Most parents of children with Tetrasomy 9p have normal chromosomes.  It's like this happens as a random stroke of bad luck.  Sometimes I think this would be so much easier to swallow if I believed in bad luck.  Because I don't know how to comprehend that God would ordain this.

Back to the appointment...

I think even after the ultrasound, both Jason and I still had a little hope.  Maybe things aren't as bad as we heard last time.  Maybe the doctor will come in and tell us that they really don't know what to expect when Elliana is born.  Maybe we still have reason to hope.

All of the hope behind those "maybe's" died pretty quickly when the doctor came in.  She sat down beside me and said (very kindly and compassionately), 'I guess I don't need to ask how you're doing.'  That statement alone just about sent me over the edge.

Up until today, I haven't really understood why the prognosis has been so poor.  Elliana's heart condition isn't that bad.  Her brain has been the biggest concern, but the degree of concern has been pretty vague.  But this doctor explained it.  Now I get it.  The number of extra copies of genetic material determines the prognosis.  Elliana has 2 extra 'p' (plus a little more) arms of a chromosome.  That means there's more genetic information for the body to process.   All of the cells in her body have too much information to process, and that is what leads them to believe that she won't be able to survive. 

The doctor compared it to another very serious genetic disorder, sickle cell anemia.  All it takes is a very tiny variation in one gene to cause sickle cell anemia.  Elliana has several affected genes, entire pieces of chromosomes missing, and extra copies of some genes.  It's too much for her body to process.

I'll summarize the rest of our conversation with the doctor because it's just so depressing and difficult to talk about, at least for tonight.  The doctor believes that Elliana will probably be a full-term baby.  There's no reason to believe that she'll be born prematurely.  After she's born, she may live for a few hours or a few days.  We may even be able to bring her home.  They'll make whatever accomodations we request. 

A genetic counselor has suggested more than once that I contact Kids Path, an organization that helps children and families who are facing a poor prognosis.  They also help couples like us who are anticipating the birth and death of a baby.  I've been putting off making this phone call for weeks.  It's just been too difficult to think about.  But I called yesterday.  One of the things they do is help parents put together a detailed birth plan.  Jason and I have talked about what Elliana's birth might be like, but it's so difficult to talk about, and there are so many things we don't know.  As awful and horrible as it will be, I will be meeting with this kind lady, Kate, from Kids Path who will help us think through a birth plan.  She will also be our advocate at the hospital, making sure that all staff who are involved with Elliana's delivery are aware of our wishes.  If it's possible to feel anything 'positive' about any of this, I feel a degree of relief, knowing that there will be somebody speaking for our family.  Someone who can be my voice when I'm in the middle of the worst day(s) of my life. 

And then there's this quiet nagging voice in my head that says, 'God is bigger than this.  He knows how many extra chromosomes she has.  He created her.  He makes no mistakes.  He could have a much bigger plan for her than we can see right now.' 

After today, with hopes crushed again, I really wish that voice would go away.  It's too hard to get my hopes up and then be devastated at these appointments.  And I don't think I can be hopeful and realistic all at the same time.  My heart doesn't know how to do that.