Diagnosis

I've known for a long time that I was a carrier of hemophila A. My uncle has hemophila and my mom is a carrier. Mom and I both have low levels of Factor VIII ourselves. Mine is 38% which sounds like plenty compared to my son's < 1%. Regardless, I've known for years that I need DDAVP before surgery. Otherwise, it's not something that affects my day to day life.

My older son, Ty, was born on September 3rd, 2004. We found out that he was a boy and we knew that he would have a 50-50 chance of having hemophilia. His dad and I chose not to have any prenatal testing done. It was a stressful pregnancy anyway because I got parvovirus at 18 weeks. I was followed with weekly ultrasounds after that to make sure he was ok. The concern over that seemed to overshadow the concern about hemophilia. When he was born testing cord blood wasn't an option so he had blood drawn at about 1 hour of age. Thankfully, he had normal factor levels.

I'm not a religious person but I have considered that God or the universe or whatever won't give you more than you can handle. When Ty was born, I was not quite 24. I was married but our relationship was on shaky ground. We would go on to separate when Ty was 2 years old and I became a single mother. I was a young nurse, working shift work, my son and I sleeping on the floor at my parents' house before I worked day shifts so my mom could get him to day care in the mornings. Could I have handled a child with hemophila then? Not very well, that's for sure.

So, fast forward to 2010. I was remarried. My husband, Steve, is very much a grown-up. Level-headed, responsible, a real caretaker to Ty and I. After losing a tube to an ectopic pregnancy that summer, I got pregnant again in early September. Steve knew I was a carrier and he knew we had options in regards to prenatal testing but it wasn't something we talked about much. I considered myself extremely lucky to be pregnant again so quickly after the ectopic. I certainly wasn't about to choose to end a pregnancy at that point so any testing was really a moot point. So, on we went.

The first trimester felt very different from my pregnancy with Ty so I was pretty sure this was a girl. Not so! At our 18 week ultrasound it was confirmed that we were having a boy. Again, we decided not to do anything further. We did meet with the pediatric hematologist so we would be on her radar. Our hospital had recently made new guidelines for delivering carriers of hemophilia so everything was clearly laid out. I would have an elective repeat c-section and Thomas' cord blood would be tested. We would have the results within a few hours of his birth.

All this preparation and for some reason, I never pictured getting bad news. When I imagined his birthday, I imagined them coming to me with his results. He would have a full supply of Factor VIII and we would all hug and cry tears of joy. After having Ty, I really believed that I would win the lottery twice. I feel bad talking like that because I wouldn't trade my sweet baby for anything, hemophilia or no hemophilia. But still, the news was devastating.

The cord blood clotted and the test couldn't be done so Thomas had to have blood drawn. Not a heel stick but a real blood draw, from his elbow like an adult. This is really rare for normal newborns and strangely enough, the only time I've seen it done in my 8 years as a labor and delivery nurse were on my sons. Two lab techs came over to do it. It took two attempts and the lab techs commented that it was a good sign that the tourniquet wasn't leaving bruises on his arms. I breathed a sigh of relief, he was ok. I still pictured nothing but good news. I finished my time in the recovery room and just as we were about to be transferred to our postpartum room, the phone rang. My nurse, co-worker, and very good friend Amy answered it and we listened intently to her end of the conversation. It was my doctor. Yes she had the results but no, she didn't want Amy to relay them to me. She wanted to speak directly to me. I was laying on a stretcher, my legs still frozen from my spinal anasthetic and no phone nearby. Amy explained this to my doctor and she still wanted to speak to me. This was bad news. Amy wheeled my stretcher over to the phone. My doctor told me "Your baby does in fact have hemophilia and it's severe".

Severe is such a harsh word. You don't usually hear people talk about severe diabetes or severe epilepsy. But there is a very big difference between severe hemophilia and mild or even moderate hemophilia. My heart dropped when I heard it. How could I be so shocked? We'd gone over this with obstetricians, hematologists. I knew the statistics and I knew that my particular gene was one that would result in severe hemophilia, just like my uncle's. It still felt like the wind had been knocked out of me.

When we got to our postpartum room, a resident came to see us. She started with taking a family history and didn't even acknowledge the diagnosis. Then when we got into the specifics about Thomas she asked if we were planning on circumcision. We weren't and she said that was good because he could die from that. Omg... She needed some work on her communication skills.

They decided they wanted to do a cranial untrasound right away. They needed to rule out a head bleed from his birth and since it was a Friday afternoon, time was running out. It would be too hard to get it done on the weekend. It was arranged within a few minutes and Steve and a nurse took him to have it done.

While they were gone, my parents showed up with Ty. Of course, my mother's first question was "where's the baby?". I told them that we had a positive diagnosis and he was gone for an ultrasound of his head. Mom's eyes teared up and Dad groaned with disappointment. I don't think there was any reaction from them that I would have deemed appropriate in that moment. I snapped. I said something along the lines of "we're not talking about this right now". That was the first of many times that I would feel defensive. I was already in the mindset that this would all be ok and we could handle it. I wanted to be celebrating my baby's birth not mourning the fact that he had hemophilia.

Thomas is 2 months old now and hasn't had so much as a bruise. I'm told that's normal, even with severe hemophilia. The current plan is to start prohylaxis at 6 months. There's a lot to learn in the near future but we're feeling positive about it. Steve and I believe that this boy was given to us because we can handle it.