Ring Deletion

Dr .West (the perinatologist) called yesterday with results of the amniocentesis.  What we found out is that baby has a defect on chromosome 13.  The previous test looked at chromosome 13 but only looked to see if there were three of them, which there weren't.  Baby has two chromosome 13s (which is normal) but has a defect on one of them called a ring deletion.  From what I understand, a ring deletion is where one of the two chromosomes is severed.  The severity can differ depending on where the cut is but the closer to the end, the better the outcome (everything distal to the cut is basically lost).  Given our baby's difficulties, I think we have one of the middle range to worst of the deletions.  Children with end deletions typically don't show as many problems with development.  She did say that the baby is probably going to have a significant case of mental disability, but I think this is something we expected given the abnormalities we knew the baby had.  Dr. West also told us that we have a week to terminate the pregnancy if we chose, but we have known all along that a termination isn't an option for us. 

There isn't a lot of information regarding ring deletions since it appears they are fairly rare. What I've found is scary and reassuring all at the same time.  We're still not sure that the baby will survive pregnancy but from what we are finding, chances are high that the baby will survive.  Now our heads are whirling with the possibilities of surgeries, hospitalization and everything else the baby is going to have to go through.

Getting all of this news has been a huge spin for me and Ryan.  We're realizing that there are so many uncertainties in our future.  We're going to be stressed in every way...mentally, physically, financially.  Yesterday, we weren't sure if we needed to prepare to lose a child or prepare to care for a special needs child.  Today, we're knowing that although still are both a possibility, our future is probably caring for a special needs child.  I would be lying if I say that didn't terrify us in every way shape and form.  Last month, our biggest anxiety and worry was where I was going to get a job when I was done with school and whether we thought we were going to build or buy a house.  We would hate that our life was on hold.  Even with all of that though, I would thank God, knowing our problems were small.  Today, I know that there are people facing even bigger battles than what we are. 

The last two weeks, I have struggled with the why.  I know there is one, I know God has picked us to care for this baby.  I prayed for the last couple years that I would be a better parent...maybe this is the reason.  I prayed that my husband and I would continue to grow closer to God...maybe this is the reason.  I also know that Ryan and I are some of the calmest people I know.  If something bad happens, we deal with it.  We know that about each other, we hear it from our friends and our co-workers.  I've never doubted Ryan's strength and it's one of the reasons I married him.  I've never doubted my strength.  I was a teen mother and against odds, I've made my life what I always wanted.  I am nearly done with my master's degree, which is something many people, let alone many teen mothers, can't say they've done.  I know I am strong, but only as strong as the ones who surround me.  And with my strong husband at my side, I know we're strong enough to care for this child and for anything else life throws our way...maybe this is the reason.

I hope people don't feel sorry for me or Ryan.  Although we're dealing with this, we have so many other things in our life that we are so blessed to have, things will always outweigh any negative we encounter.  We have each other.  We have amazing families, immediate and extended.  We have great friends, who are always there for us when we need them, who think about us daily.  We have a great church, filled with Christians who are helping us find our way in this sometimes un-Christian world.  We have a house that we can call our own.  We have jobs that we love. We have a God that loves us more than we'll ever be capable of understanding. 

And we have these two...Two little souls who show us that we can and will continue, two little faces who smile at us every day, two little voices who say "love you", four little arms that wrap around us and give us the most amazing hugs, two little hearts that we have to continue to nurture and show that we can handle anything...two little beings that make us carry on, even in the days we don't think we can.

Thank you to all of you who have continued to pray and support us as we walk this road and as we continue to deal with all of the hard days ahead of us.