I had such an easy pregnancy with my son Carson seven years ago—I kept working as a bartender and took long walks well into my ninth month. My partner and I were ecstatic to have a baby boy. But hours after his birth, a nurse came into the recovery room to do a routine heel stick, and Carson wouldn’t stop bleeding.
The nurse didn’t seem too concerned; she said, “I must have stuck him in a weird spot.” But I was unnerved when they released us a few days later and specks of blood were still leaking into the bandage. The next day, at our routine pediatrician visit, the doctor said the bleeding wasn’t normal, and told us to go right to the ER. I was more alarmed, of course, but then I was calmed by the hospital staff’s lack of worry. They didn’t say much about it, simply applying a tiny piece of skin-like material onto his foot. The bleeding stopped. Problem solved, I thought.
Then, a few days later, I went to change Carson’s diaper in the middle of the night. It was filled with blood! He’d been circumcised after his birth in the hospital, and the wound had been healing nicely until now. I screamed for my partner to wake up; we raced to the nearby children’s hospital, but even at the ER they couldn’t fully stop the bleeding. They put us all in a room and ran tests on Carson’s blood. I hardly slept that night.
The next morning a doctor came in. “Your son has hemophilia,” he said. I was so shocked that I could barely process this news—the doctor had to write the word on a whiteboard. As I stared, he explained that hemophilia is a bleeding disorder that gets passed down from a mother, who, as a carrier, may have no symptoms, to her sons. (It can also be passed to a daughter, who then becomes a carrier, by her mom or from her dad if he has the disorder.) Carson was missing a crucial clotting factor that most people have. It terrified me that my tiny, perfect boy could have this rare and serious condition. My mind spun with questions about what his life would become, how we’d care for him, and whether he’d be able to play sports or do the other things kids do. It felt so unfair to him.
A genetic surprise
At first I didn’t understand how this could be possible, as no one in my family had hemophilia. Then I realized that for four generations on my mother’s side, only girls had been born (except for my brother—who through genetic luck, had escaped the disease). I later learned that females sometimes have bleeding issues, usually mild; my very heavy periods as a teen might have been a clue.
By the next day, my mama bear instincts took over and I was ready to learn how to keep my baby safe. The doctor referred us to a specialty hemophilia center near our home in Charlotte, NC. I felt reassured when a nurse there told me this was the best time in history to have a child with hemophilia. Treatments were now so advanced that they could keep kids from the disease’s worst effects, such as severe joint disabilities and potentially fatal brain bleeds. I also connected online with other parents of children with hemophilia, and their support and insights were a lifesaver.
Starting treatments
Carson’s medical team planned to start him on thrice-weekly infusions of a drug that would replace the missing clotting factor in his blood as soon as he turned 1, but by the age of 7 months he was getting bruises from blood leaking under his skin, sometimes just from his having been picked up. Then one time when we were all out of town, he got a more serious bleeding wound called a hematoma after banging his back against a wooden high chair in a restaurant. The local hospital didn’t know how to treat this, which scared me enough to realize that I needed to learn more on my own to ensure that he would always get the right care.
Bartholomew with her biker boys, Carson and Bryson.
Once we got home, doctors surgically placed a port in Carson’s chest so we could start infusions, as his veins were too small to inject clotting factor as often as it was needed. We were trained in how to access the port using sterile technique. When Carson was 2, the port got infected, so it was removed, and then the specialty pharmacy nurse taught us how to infuse clotting factor through Carson’s veins.
A big decision
When Carson was 3 and the drugs were working well to control any bleeding, my partner and I started talking about having a second child. We thought about using in vitro fertilization, which can test an embryo for hemophilia before implantation. But before we could act on this idea, I unexpectedly got pregnant. Blood tests showed that the baby would be a boy. Even though this meant this child too might well have hemophilia, I surprised myself by being unafraid. By this time I had become an expert at administering the medicines that could prevent extensive bleeding. In 2021, I gave birth to Bryson, and he was officially diagnosed with hemophilia a week later.
Thankfully, the medical advances keep coming. Both kids are on a new drug I administer just once a week—this has been a real game changer. The rest of the time my children, now 7 and 3, get to be regular kids. I love watching them frolic on the beach, feed (and chase) our chickens, and ride their bikes. We even let Carson pursue his passion, racing go-karts in tournaments against other kids, though we make sure he always wears a helmet.
Early on I used to think Why us? But at some point my mind shifted to How can I grow from this? I went back to school and got my nursing degree, both to help with my own children’s care and to assist other families in my current job at a hemophilia specialty pharmacy. I am also active on social media, where I reassure moms with newly diagnosed babies.
It feels weird to say this, but everything I’ve learned and done because my sons have this disease has brought me a sense of strength and peace that I never had before. When we first learned that Carson had severe hemophilia, I feared that my long-dreamed-of version of motherhood was being ripped away from me before I’d had a chance to see if I could live it. Now I realize that this version—in which I love, advocate for, and take care of my sons—is truly what mothering is all about.
What exactly is hemophilia?
Hemophilia is an almost always inherited disorder affecting an estimated one in 5,000 males; females can have it too, though in them it usually is milder and often goes undiagnosed. In those with the disease, blood fails to clot properly because it lacks at least one crucial protein of a type known as a clotting factor. This can lead to prolonged bleeding from injuries as well as spontaneous bleeds into joints, muscles, or even the brain.
Why it’s mostly boys
The fact that boys have only one X chromosome (along with one Y chromosome) is the reason they are more commonly affected. The disease is caused by mutations on the X chromosome, and since females have two copies, the healthy one usually ensures that enough clotting factor is produced to avoid the disease. Girls with one affected X chromosome and no obvious symptoms are called carriers. If a mom is a carrier, a boy born to her has a 50/50 chance of having the disease. Rarely, hemophilia appears in people without a family history of it because of a spontaneous mutation.
How blood clots
While there are many clotting factors in the blood, people with hemophilia are generally missing factor VIII (hemophilia A) or IX (hemophilia B). Clotting factors work together, but the lack of a single important one can interfere with the process, says Leslie Raffini, M.D., medical director of the Hemostasis and Thrombosis Center at the Children’s Hospital of Philadelphia. People with very low amounts of a key clotting factor are typically diagnosed with severe hemophilia as babies, after circumcision or if they develop large bruises due to a difficult delivery or when they start to crawl.
But hemophilia is not always severe—those with somewhat diminished amounts may have a milder version and not learn of it until adulthood, when perhaps they bleed uncontrollably during surgery. Others may have symptoms only after dental work or serious injury, according to the National Bleeding Disorders Foundation.
Other ways it can show up in kids:
- Hard-to-stop bleeding from injuries or after losing a tooth
- Major bruising or bleeding into muscles
- Joint swelling and pain, especially in the knees, elbows, and ankles, due to bleeding there
- Bleeding in the head, or sometimes the brain
Lifesaving Science
Before the 1900s, there was no effective treatment at all, and for decades after, blood transfusions were the only game in town. Before the first modern medicines were introduced in the 1980s, boys with hemophilia would bleed so much that they frequently developed debilitating joint disease. “It really interfered with a young boy’s ability to participate in normal activities, with some needing to use a wheelchair at a young age,” says Dr. Raffini. “Hemophilia treatments are one of the biggest success stories in medicine.”
A few of today’s hemophilia medications:
- Recombinant synthetic factor replacement therapies, which replace the missing proteins and help blood clot
- Non-factor designer antibodies that mimic the function of factor VIII
- Newer “rebalancing” agents that block proteins that interfere with clotting
- A novel one-time gene therapy that delivers a healthy version of the problem gene to the liver
People with the disease still have to be extra careful, however. “We advise patients to avoid the highest-contact sports—like football and ice hockey—and if they need surgery or dental extractions, we treat them with extra clotting factor,” says Dr. Raffini. Still, kids can lead pretty normal lives. The drugs “have completely changed the outlook for people with the disease,” she adds.
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