Blue Genes

When I was nine and sitting in that hospital bed having that annoying gene conversation with the psychologist, I never realized then how much those “blue genes” would affect the decisions I made as an adult.  At nine, the last thing on my mind was growing up, getting married, and having kids.  I didn’t start thinking about that until after college.  Even when I was in a serious relationship in college, I never thought about having kids or the possibility of passing on FAP to unsuspecting tiny humans.  It wasn’t until I was maturing and growing up emotionally that I started to think this disease might be a total deal breaker for some men.

Let’s face it, it’s not for everyone.  I wouldn’t fault a person who didn’t want to breed with someone who had FAP.  It’s a lot to take on.  You are signing for the likely possibility (a 50/50 chance with each kid) of having a child/children who need extensive screening, medical intervention, and several surgeries in their lifetime.  That’s not something for just anyone, or someone with crappy insurance either.  It takes a special individual, or in my case a special man.  That man would have to really love me and be willing to be tough with me.  Not only would he have to accept the possibility of having “sick” children, he’d also have to put up with my medical problems and loose bowels.  I certainly couldn’t marry a man who was a fecal phobe or have any issues with poop or talking about poop.

And then, I met my incredible husband Marcus.  I remember going on our first date.  I had met Marcus at synagogue (I know, it’s a little cheesy).  We had a fifteen minute conversation after services and I enjoyed talking to him.  We exchanged contact information and about a week later, we met at a wine bar to talk some more.  About an hour and a half into our “date”, I decided it would be best to tell Marcus that I had the family curse – FAP.  I wanted to be honest and direct.  I didn’t want to waste Marcus’ time or mine.  If he couldn’t handle it, then I’d move on and so could he.  I felt like if I didn’t say something now, I’d be lying and hiding it from him.  Marcus was in medical school and I knew he was intelligent and would understand medically what FAP meant and the details that involved having FAP. 

So, I spilled the beans about my disease.  I felt like I was dropping a wrecking ball right in the middle of our table.  But Marcus didn’t miss a beat.  I told him what Familial Polyposis was, because even some doctors have never heard of it – luckily there aren’t that many of us out there.  He understood what I was explaining.  He engaged me, talking about the disease that had robbed me of a normal childhood.  Then I asked him if it concerned him that I had FAP.  I spelled it out for him that if I ever decided to have kids, I could pass it on to them.  He nodded and said he was aware of that.  Upon saying this, Marcus said he wasn’t scared of me.  He said it didn’t change what he thought of me and he said he enjoyed my company so far and he certainly wasn’t going to run away from me knowing that I had a genetic disease.

I was relieved, because I really liked Marcus.  He was intelligent, quiet, and very kind-hearted.  He was exactly the kind of man I wanted to be around.  After that night, Marcus and I spent more and more time together and if you know me, you know the rest of the story.  At that time, I knew Marcus accepted me and my disease, but I didn’t know what his family would think about it.  I still don’t really know.  I think they are very uncomfortable with it.  I don’t think they know how to relate to it.  I guess it’s not their fault as they never had to face any significant medical problems with their children.  It’s foreign to them, so I think it’s easier for them to keep their distance physically and emotionally from this issue.

After Marcus and I became engaged, we started to talk about whether we could have kids or not, and how that would work.  I knew we would have a 50/50 chance of having a child with the disease.  Did I really want to have a child with Familial Polyposis and bring someone in to the world to suffer?  I wasn’t sure what to do.  If I was going to do it, I couldn’t wait forever.  I only had one ovary and the other was severely scarred and was constantly making cysts and causing me problems.  Marcus and I decided that if we were going to have children, we for sure would have the fetus tested for FAP in the very early months of pregnancy so that we could make an informed decision about what to do.

That meant that once I was pregnant, I would have chorionic villi sampling of the placenta.  At about eight weeks, a doctor takes a sample of the placenta, sends it off for DNA testing, and that testing determines if the fetus is positive for the FAP gene mutation or not.  The process takes about 4 to 6 weeks.  So this is exactly what Marcus and I did.  We did this, to put it bluntly, so we could decide whether we wanted to terminate the pregnancy or have a child with FAP.  Unfortunately, we have a very black and white view of abortion in this country and it’s hard to talk about making a decision like this without the fear of judgment from “pro-lifers.”  I think anyone who would argue it’s a good thing to bring a child with a rare and serious disease into the world, needs an examination by a qualified psychiatrist.  And it’s also judgmental for someone to say they would never dream of even considering terminating a pregnancy like this.  It’s easy to judge when you’ll never be confronted with a situation like mine.

So when I became pregnant with Zehariah, I wanted all the information about whether he had FAP or not, so that I could make an informed and fully conscious decision one way or the other.  I had the chorionic villi sampling done at six weeks, and just before I was twelve weeks pregnant, I got the news I dreaded.  The fetus was positive for the FAP mutation.  I told the genetic counselor on the phone that my husband and I would make a decision in the next few days and call her back.  I didn’t know what to do and Marcus wasn’t sure either, but he wanted me to see a movie that might help us decide what to do.  The movie was “Gattaca.”  If you haven’t read the book or seen it, it is a science fiction film where a genetically inferior man assumes the identity of a genetically superior man.  During the course of the film, you learn that it doesn’t matter how “inferior” genetically you are, you are capable of amazing things if you have the will and work ethic to succeed.  Seeing the film made me realize that I had achieved lots of wonderful things in my life in spite of my suffering and physical struggles.  I had been through a lot of pain, but I was still happy and thriving.  Wouldn’t I be able to teach this to my child too?  Would he resent me for making him live to suffer?  Would my child thrive too? 

I didn’t have the answers to those questions, but I thought that if I could make it through and still be happy, then I could feel alright putting a child with the same genetic disease on this earth because I believed he would make it through too.  We decided not to terminate the pregnancy and six months later, a very healthy and complete little boy named Zehariah was born.  As soon as I held him, I knew the day would come where we’d have to watch him wheeled away to the OR, but in that moment, I was sure I could keep him safe and happy.  Four years later, when we had our daughter Bluma, I choose not to find out if she carried the FAP mutation until she was born.  I figured I’d brought one into the world, how could I go through that decision again?  Maybe it was selfish, I don’t know. 

After Bluma was born and they put her in my arms, I began feeling her head for osteomas.  Those are benign bony tumors found on the skull and flat bones, such as the rib cage, of people with FAP.  Osteomas are only found on people with FAP, so if you have them, you probably have Familial Polyposis.  As I ran my fingers all over Bluma’s small newborn skull, I felt a perfect bump just behind her ear.  It was certainly an osteoma and she had one in the exact same spot as I.  Instead of looking at my daughter to see whose nose and lips she had, like most other people do upon meeting their baby, I was discovering that my baby had my genetic disease and I had to take that in and process it.  My heart sank and I was very low for a few minutes, but then I reminded myself that I had an amazing husband, a beautiful son, and now we had added a little girl to our family – what a joyous day.  I decided to not dwell on discovering that Bluma had FAP, but to celebrate how wonderful life was for us and the magnificent gifts I have been given in my life. 

There are always total bummers in life, and some of us get a lot more of them than others.  I’ve had a lot of shitty stuff happen to me, but I choose to focus on the fabulous.  My husband, my son, my daughter, and the life I’m living are pretty damn fabulous.  You can choose to wallow in the pain of not having an ideal life, or you can keep moving positively forward with what you have.  The choice is always your own to make.