What to do, what to do...

Steve and I have recently been facing our first decision in reagrds to Thomas' health care. To immunize him now according to the usual schedule or delay it until he's on prophylaxis. It's all about preventing inhibitors. Here's how it works, as it was explained to me:

Now that factor concentrates are safe and the risk of blood borne disease is virtually eliminated, one the biggest complications in hemophilia is the develpoment of inhibitors. An inhibitor is basically like an antibody which causes the person's body to attack the Factor VIII like a foreign substance. For these people the Factor VIII doesn't work any more. Factor VIII is essential for blood clotting so if it doesn't work, where do you go from there? I don't entirely know. There are ways to get rid of inhibitors but no one has explained it to me yet and I'm not about to try to explain it based on my limited research. Long story short: inhibitors are bad.

So, the goal at the moment in Thomas' care is to prevent inhibitors. Our hematologist tells me that there is some evidence to show that early prophylaxis may help. If he receives his first dose of factor in response to a bleed, he's more likely to develop an inhibitor. This is because his immune system will already be hyped up due to the inflammatory response caused by the bleed. In this hyped up state, his body is more likely to attack the factor. This is why the current plan is to start prophylaxis so early. At 6 months he'll be started on regular infusions of Factor VIII. This way his body can get used to it, hopefully in the absence of bleeding.

So what does this mean for immunizations? Well, the immunizations are given by intramuscular injection. This has the potential to cause him a muscle bleed which would need to be treated with a factor infusion. So that's exactly what we don't want. The first infusion in the face of an inflammatory response to the bleed, not to mention the hyped up immune system due to the immunzations themselves. Both these things make his body more likely to attack the factor.

There is another piece to the puzzle. Some people are more likely to develop inhibitors due to their genetics. Our particular gene is associated with a lower risk. Based on this, our hematologist has recommended that we go ahead and do the immunizations now with pressure held to the injection sites for 5 to 10 minutes. Our other option would be to wait until around 8 months of age, when his body has already experienced several doses of factor.

I've gone back and forth so many times on this. I have to admit that I'm as afraid of experiencing his first bleed as I am of developing an inhibitor. I'm sure a time in our lives will come that I'll realize that's ridiculous. Bleeds will certainly be part of our lives and I can't avoid the first one forever. But at this point, I can hardly bear to think of my 2 month old going through the pain of a bleed. Not to mention the trauma of requiring an IV infusion in those chubby little arms to treat the bleed. My first instinct was to delay the immunizations.

Then there is the other side of the argument. What if we delay and he gets whooping cough or meningitis in the mean time? He's home with me but he's got a big brother who brings every germ going home from school. People seem to take vaccines lightly, especially on the internet. If you look around the internet a bit, you'll get the impression that vaccines are evil and no one does it any more. Now that I'm in this position, I just don't get the people who choose not to immunize based on some fear mongering website that bases its "facts" on the study of a doctor who has since been proven to be a fraud. I mean, I'm not sitting here worrying about him catching diptheria but pertussis and meningitis are very real concerns. Kids get these things and they can actually die from them. That's why I just can't empathize with people who are anti-vaccines. If they choose not to vaccinate their kid based on their personal beliefs then "herd immunity" is a little bit weaker, leaving kids who have legitimate reasons for not being vaccinated a little less protected.

Where does Steve stand in all of this? His feeling is that we should do what the doctors recommend but he'll ultimately support whatever I choose. He knows that I drive myself crazy worrying about things. And I can't just defer to the doctors. It was presented to me as a decision so I'll blame myself if things go badly because I made the choice.

So this is where we stand right now. Thomas had his 2 month checkup last week (14 lbs 14 ozs, by the way!) and I did not do the immunizations. I've continued to agonize over it since then so yesterday I made an appointment to get them done next week. My plan is to hold pressure on the sites for 10 minutes, apply ice packs on the way home, and cross my fingers. I'll update after the appointment to let you know if I did it or if I got cold feet.

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.