Where'd you get them genes?

Photograph by Amy Camblos

As a pregnant, soon-to-be Mom, I often found myself wondering what my daughter would look like.  Will she have my curly hair or Mike's eyes?  Will she be tall like her Daddy, or kinda, not so tall, like her Mommy?  I took biology in seventh grade, but seriously, who remembers that stuff?  And besides, the best guessing game in the world is what will my child look like and be like when she greets the world? 

The make-up of our genes is what makes us stand out from one another and when you learn that there could be something wrong with those genes, a panic sets in.  Olivia's doctor at Kluge recommended that she have genetic testing done to see if her stroke was caused by a blood clotting disorder.  We had put off the appointment several times because we knew that this information would not fix Olivia's developmental delay.  It would not restore the damage to the left side of her brain or suddenly make her use both sides of her body.  But after much hesitation, the doctor finally convinced us that we should go in for the testing.

The genetic testing takes place in the pediatric hematology/oncology floor at U.VA.  Sitting in that waiting room, I found myself doing what I always do, starring around the room wondering why each family and child were sitting in the same place as my family.  Wondering what they were going through, and if it was worse or better than our own situation.  Each specialists' waiting room is the same.  Quiet, except for a small child making noises, typically either loud laughs or hysterical cries, each for various reasons.  Occasionally there are hushed voices and the only thing that breaks that lull of hushed noise is the sudden cheerful nurse that is calling a child back for testing.  As our name was called, I looked around the room one last time and I hoped that Olivia would not need to return here ever again.

We went through the usual routine of weighing Olivia and measuring her length, and attempting to get her blood pressure, which never happens because she is a baby and wiggles the entire time.  They shuffled us back to our little room and Olivia sat on the table, excited to play with the paper that is meant to protect her.  She rips it to pieces, leaving a huge mess that I will attempt to clean up, but inevitably, I will never be successful in finding every single teeny, tiny shred.  My husband smiles at me and tries to make me feel at ease, but the truth is, we are both terrified by what is going to happen next and by what the results could tell us. 

When the doctor finally arrives we drill her with questions.  Mike and I want, no, NEED to understand why we are subjecting our child to yet another needle.  And after about a 25 minute conversation, we finally are convinced (or more so than before) that we should proceed with the testing.  The nurses arrive a few minutes later and we all prepare for Olivia's blood to be drawn.  The nurses thankfully did everything, as I did not have to hold down my own child while they drew her blood.  I remained in the corner of the room with my back to the unfolding scene, attempting to not cry as my angry daughter screamed and cried so hard that perspiration mixed with the tears on her face.  When it was all over, I ran over to Olivia and picked her up and held her as tight as possible.  As I stood there holding her, I rubbed her back and wiped her face, shushing her as best I could and swallowing my own tears and holding down my own pain.  It was finally all over.

A few weeks later the results were ready.  Of the numerous tests performed on Olivia, one came back positive.  Factor V Leiden is actually present in about 5% of the population, but the majority of people that have this mutation never even know it, as the risks only are realized in about 1% of those carriers.  Factor V is a blood clotting mutation that I or Mike passed on to Olivia.  As parents we had no idea that either one of us might have this, as again, most people do not know they are carriers.  This mutation is a possible cause for Olivia's stroke, however, there is no way to know for sure. 

What the results mean for Olivia is that if she were to have a major surgery we would need to alert the doctor should she be bed ridden for an extended period of time.  It also means that a LONG time in the future, she would not be able to take birth control pills as they cause a heightened risk for blood clots.  It also means that when she starts a family and becomes pregnant with her own child, she will be monitored closely by a hematologist throughout her own pregnancy. 

What the results mean for me and Mike is that should we decide to have another baby, that child will be more likely to have the same factor V mutation.  This means that our next child would be more likely then other children to have a stroke.  However, with only 5% of the entire population having this mutation, and only about 1% of those people actually having a realized problem from their mutation, even with a heightened risk, it is basically still a slim to none chance that anything would happen with our next child, but still a risk none the less.

As a 16 year old, I remember my parents not wanting me to drive into Charlottesville until I had more experience under my belt.  I remember being so angry and yelling that they could not prevent me from dying because when it was my time to go, it was my time to go.  My parents simply said, that may be true, but we will do everything we can to protect you and to keep you safe.  At the time, I remember thinking how over protective they were being, that I was fine to drive and the likelihood of me dying was very slim.  But how far do you go to protect your child?  Is any risk too high of a risk to take?  If you can do something to protect your child, you would do whatever you had to do.  I know I would.  But is that risk enough to put off having a child all together, because there is a very small chance or unlikely, but heightened risk that something could go wrong? 

I would not wish CP on anyone and it breaks my heart that Olivia has to fight for each cherished milestone.  But at the same time I would take this same risk just to have her in my life.  Is it selfish, stupid or the love of a parent?  I am not really sure.  All I know is that our little girl is the sweetest, funniest and most determined little child in the world and I don't know what I would do if I didn't have her or my husband in my life.  And while I don't know what the future may hold, for now, I am going to thank my lucky stars for what I have here and now.