After my son Thomas was born with severe hemophilia, and subsequently finding out that I have mild hemophilia, my husband and I had a conversation about adding to our family. For us, it wasn’t a particularly hard conversation; we knew we were rolling the genetic dice, but we were comfortable with whatever DNA combination our future child might have. At one point I said, “If we have another child with hemophilia, I’ll just line up the infusions and make it a party.” At my sixteen-week prenatal appointment, we were prepared to do an amniocentesis to determine if the baby had hemophilia in order to prepare for any potential complications at delivery. But the preliminary ultrasound was proof positive that we were expecting a little girl, so we cancelled the amniocentesis knowing that one day we would need to test her and our older daughter, Nora’s, factor levels and DNA.
Natalie, my youngest daughter, was born nine years ago, without any complications, but began to experience awful nosebleeds at an early age. My mother’s instinct led me to believe that she was in fact, a carrier. My husband and I decided to do a factor activity level on both of the girls. The test showed that the girls had normal clotting levels, but our HTC was quick to point out that testing only factor activity levels wasn’t definitive enough to say the girls were carriers or not. Because the girls were pretty freaked out about the needle poke, the HTC was also concerned that the results were skewed, as stress can cause a rise in factor activity. Throughout their childhood we continued to not really know with any certainty their status, so we talked about genetics and family history—they knew that I have hemophilia like Thomas, and that sometimes mom has to infuse. They understood the odds that they too might have it.
Natalie has always been the type of kid who ponders, and is pretty introspective for a child. Shortly after Thomas’s comprehensive clinic visit two years ago, she said, “I want to have the test. I want to know for certain if I have hemophilia or not.” I began working with the HTC to get insurance approval, and in the midst of that process, Nora needed oral surgery. Our insurance plan would not cover the cost of genetic testing at that point, so we did another factor activity level check prior to the surgery and she had levels that put her well within normal clotting ability, leaving us to feel certain Nora was not a carrier. Natalie was still an unknown.
This past fall, I got a call from Nathan one evening. He had taken the kids to music lessons and it was only about fifteen minutes into the lesson time. “We’re headed to the emergency room. Natalie slammed her fingers in the door and it’s pretty bad.” I was working and couldn’t leave to meet them. Upon arriving in the ER, and despite having a broken and bloody finger, Natalie self advocated, telling the medical personnel that she could possibly have hemophilia and that she should not take ibuprofen. It took weeks for her finger to heal. In retrospect, I probably should have taken her in to the HTC to be checked out; even though I’ve suspected she’s a carrier, I guess I also didn’t want to face that possibility.
Over spring break we got word from our insurance company that genetic testing we requested two years earlier for the girls had been approved. The girls were nervous about the poke for the blood draw, but stoically handled it. Thomas, meanwhile, looked on with a sense of pleasure – finally we were at the HTC for someone other than him!
The results came back and mother’s instinct was correct: Nora is not a carrier, Natalie is. Our hematologist asked if he needed to talk with Natalie to help her understand and accept this new diagnosis. I told him, no, thinking she’d be okay and then immediately after hanging up the phone began to worry that maybe she wouldn’t be okay with it.
We shared the news with all three kids that night and their reactions were as expected:
Nora: “I’m free!”
Natalie: “I knew it.”
Thomas: “Yay. Someone in my family besides my mom has hemophilia!”
The next day Nora, Thomas, and I were in the car without Natalie. Nora said, “You know Natalie is going to think every single thing is a bleed now, right?” I responded, “Yeah. She can be a little over-reactive to injury. In her defense though, remember when she twisted her ankle a month ago? Makes sense now why it took her so long to heal.” An ever-helpful big sister, Nora replied, “Yeah. At least now you can poke her and make her feel better.” At which point Thomas and I started giggling, “Yep. Because getting poked with a needle ALWAYS feels great!” I exclaimed. Later that day, Natalie asked me, “Does my carrier test mean I’m handicapped?” I explained that being a carrier is a characteristic and that it doesn’t define her, equating it to having brown eyes or needing glasses or having diabetes – those things aren’t who you are, that they are just a part of what makes you into the person you are. She nodded in understanding and went back to reading her book.
A few days later Nathan and I checked in with Natalie again, just to see how she was processing the news. I explained that we had to go back to the HTC to actually test her levels again – that all we knew for certain right now is that she carries the gene and that we don’t know how much factor activity she has right now. Her first question was “Do they have to use a clear tube this time? The worst part was seeing the blood come out when they poked me.” We laughed, and told her to not look next time. Nathan mentioned to Natalie that she had a 50/50 chance of having children with hemophilia one day. She understood that and then Thomas asked her, “Would you choose to have kids with hemophilia, Natalie?” Her response, and when I knew that she accepted her diagnosis: “I don’t really have a choice. It just happens.”
It just happens.
It just happened that at 28 years old, I had a little boy who couldn’t stop bleeding after his circumcision and I found out that I passed a genetic disorder along to him that I didn’t even know I had. It just happened that his older sister, and my first born, does not carry the gene. And it just happened that my youngest child does have the gene like her brother and me.
Does it change us? Sure, but it doesn’t define us. It is just part of our family make up. More importantly, it brings us closer as a family.
Sonji lives with her husband, Nathan, and three children Nora (13), Thomas (11), & Natalie (9) in Colorado.
*Note: “Infusing Love: A Mom’s View,” is a blog collection of personal opinions and a representation of individuals experiences. While extensive efforts are made to ensure accuracy of the content, the blog entries do not represent HFA or its Board of Directors. The blog is also not intended to be construed as medical advice or the official opinion/position of HFA, its staff, or its Board of Directors. Readers are strongly encouraged to discuss their own medical treatment with their healthcare providers.