People diagnosed with a bleeding disorder need to balance priorities in order to live a full – not fragile – life

As babies begin to explore their worlds, accidents happen. Ryanne McIsaac, 7 months old, hit his head a bit in one such adventure. A much larger bruise formed than the knock deserved, and he bleeded from his ears and mouth.

When Ryan’s parents rushed him to the hospital, medical professionals had to rule out abuse. “I hate that part of the story,” said Ryanne, now 38 years old. “Then they thought I might have put toys in my ears.” The doctors were shocked.

It turned out that Ryanne has severe haemophilia, a bleeding disorder that is often inherited from parents to children and has low levels of a protein in the blood that helps stop the bleeding, which are called coagulation factors. Hemophilia causes the blood to clot properly and can lead to spontaneous bleeding as well as bleeding after injury or surgery. The disorder can range from mild to severe, and its severity is determined by measuring blood clotting factors. The lower the clotting factor, the more likely it is to bleed, which can lead to serious health problems.

Why was it so difficult to get a diagnosis of Ryanne? First, health care providers (HCPs) usually start by excluding more common diseases and illnesses. This meant they had to rule out the most common bleeding disorder, von Willebrand’s disease, which affects one in a hundred people in the United States and can also cause unusual bleeding. Von Willebrand’s disease, named after a Finnish scientist who first described it in 1926, is not uncommon in women. In fact, it affects women as often as men. People with von Willebrand’s disease either lack or have low levels of von Willebrand factor, a protein that slows blood clotting, or it malfunctions. It turned out that the author of Ryanne von Willebrand was not a problem.

Second, Ryanne had no family history of hemophilia. And third, hemophilia is often considered a man’s disease. While it is true that hemophilia affects more men than women, women can certainly have this disorder as well. In addition, for many women with hemophilia, symptoms such as heavy menstruation are often treated without doctors looking deeper into the causes.

X factor

Why is hemophilia more common in men than women? The answer is related to how the hemophilia is passed from parent to child. Hemophilia is inherited through the X chromosome. Men have one X and one Y chromosome. So when a man’s X chromosome carries hemophilia, he develops the disease. But women have two X chromosomes. If someone gets sick, they are a carrier of hemophilia, which means they can pass the disease on to their children, but that doesn’t mean they have the disease themselves. When a woman has hemophilia, both X chromosomes suffer or one is sick and the other is missing or not working.

“I first heard about women and bleeding in 1988,” Dr. Frances Scully, a hematologist from Newfoundland, Canada, recalled. He worked at a hemophilia clinic where the patients were only boys and men. “I started meeting women, usually the mothers of patients, who had unusual symptoms. They had problems that looked similar, but there was no training or discussion about women and bleeding.”

Scully said the women easily described their symptoms as bruising, bleeding gums and teeth, and heavier menstruation. At the time, gender was not even recorded in the global registry of people with hemophilia. “Only age and severity were recorded when data were collected,” Scully said. Now that more women are being examined for hemophilia, we find that more women have this disorder than previously thought.

Exercise: yes. Associated sports and high heels: no.

Ryanne’s mother wanted Ryanne’s childhood as typical as possible.

“I’d like to say I’ve lived a very normal life despite hemophilia,” Ryanne said, “but it has affected me. I’ve been in the hospital for five years of my life. I turned 13 in an orphanage. In the hospital, nine hours away from home.”

Still, his mother allowed him to rollerblad, ride a bike, and even pierce his ears a little prepared and after consulting his doctor. “They bleed a lot,” Ryanne said, “but they just got better.”

Ryanne’s parents found him a mentor in Raleigh, NC, who was 30 years older than Ryanne. “I had been calling him since I was 12. He was my friend. I traveled to meet him once. We both cried. He died recently at the age of 69. He really encouraged me to have a rich, full life. He lived it.”

Ryanne said the perspective of his mentor helped him see the role of this disease in his life. “It helped me adjust a little better. I feel like I had choices. As an adult, I make choices that I think are best for me, and I don’t feel like I should be doing something.” because the risk of falling is too high.

Scully said anyone with a bleeding disorder should generally avoid NSAIDs such as aspirin or ibuprofen because they can cause bleeding. But the big problem for children, he said, is sports. People with hemophilia are usually advised to avoid contact sports.

“In parts of Canada, it’s awful to tell a child he can never play hockey,” Scully said. Even in other sports, you can get hit or fall and get bruised. “It’s a tricky area. If a child lives for this sport, I’d say, ‘Do it and go for a treat.’

She was advised to work very closely with the doctor for planning. “No activity is harmful to us, and it’s very bad for kids. I try to encourage them to swim or run. But I had a patient with mild hemophilia and he was a wrestler. I think if you help them prepare and compete safely, they’re so The risk is that if you forbid a sport, the kids will slip away and do it anyway. [and] if they are injured, they can receive treatment immediately. ”

Scully said there are urban myths about hemophilia. “People are told they can’t go for surgery or dental care. That’s not true.” Even pregnancy and childbirth, although they can be risky, can be a reality for many women with hemophilia due to additional medical supervision. Medicines to prevent and treat bleeding are well advanced. “Gene therapy has also shown great progress,” Scully said. “Life is just completely reversed.”

Ryan has had a few scary experiences, but he wants people to know that they can have a rich, full life even if they have this disease.

Sidebar: If you have any signs or symptoms of a bleeding disorder, such as heavy periods, mild bruising, or recurrent nosebleeds, visit the Better You Know website for a risk assessment.

Resources

Better you know

National Hemophilia Foundation

American Hemophilia Association

World Federation of Hemophilia

This resource was created with the support of the National Hemophilia Foundation.

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