Rare Disease Day, observed this year on Feb. 29, serves as a poignant reminder of the challenges facing those who live with uncommon medical conditions. According to the event’s website, a rare disease is defined as one that affects fewer than 1 in 2,000 individuals. Among these conditions is hemophilia, a disorder I’ve become more outspoken about in recent years.

In my efforts to shed light on hemophilia, I’ve engaged in enlightening conversations with my neighbors. Many of these conversations have necessitated dispelling prevalent misconceptions. Here I share some of the myths I’ve encountered and addressed:

‘Hemophilia affects only males’

This misconception is a prevalent one, as highlighted by an anecdote shared with me by a charming older man. He recounted the story of a family friend who battled hemophilia, contracted AIDS, and tragically passed away in his 50s. Despite having daughters, the family wasn’t initially alarmed because of the widespread belief that hemophilia exclusively affects men.

While it’s true that hemophilia primarily affects men because of its X-linked genetic nature, it’s essential to recognize that women also can play a significant role in its inheritance and may have low factor levels themselves. Women can inherit the gene mutation and become carriers, potentially experiencing symptoms. In some instances, carriers may have factor levels below the standard threshold of 40%, which is diagnostic of hemophilia. Moreover, in rare occurrences, women can indeed manifest hemophilia if they inherit two affected X chromosomes, one from each parent.

‘You must be related to royalty’

Queen Victoria of England was a carrier of hemophilia and passed it on to several of her children. One of her daughters, Princess Alice, passed the gene to some of her descendants, including members of the Russian royal family. That’s why hemophilia became known as the “royal disease” during the 19th and early 20th centuries.

However, it’s important to note that hemophilia can occur in any family, and most cases are not associated with royalty. Queen Victoria’s descendants spread the gene to various European royal families through marriage and inheritance, leading to several cases of hemophilia among European royalty in the late 19th and early 20th centuries. The connection between Queen Victoria and hemophilia played a significant role in understanding the disorder’s genetic basis.

‘If you get a paper cut, that must be bad’

While my blood does have difficulty clotting, most minor cuts don’t result in excessive bleeding for me. Such cuts may bleed longer than average, but they’re never life-threatening. The bigger problem is bleeding that I can’t see, including bleeding into a joint or the intestinal tract.

‘Hemophilia is always severe’

There are different levels of severity in hemophilia, depending on the amount of clotting factor present in the blood. Some individuals, like me, have mild hemophilia and experience bleeding episodes less frequently or with less severity compared with those with severe hemophilia.

However, women bleed differently from men. We’re challenged with monthly periods and childbirth, which often cause bleeding problems. A recent study showed that severe bleeding after childbirth was “alarmingly high” in women with hemophilia and other bleeding disorders, including von Willebrand disease.

By challenging these myths and disseminating accurate information, we can foster greater understanding and support for individuals navigating the complexities of hemophilia and other rare diseases. Through dialogue and education, we can forge a more inclusive and empathetic community that uplifts and advocates for those affected by rare conditions.