Bruising, nosebleeds and heavy periods in women – the symptoms of an underdiagnosed inherited disease that affects one in every 1000 Irish people

Originally published in Irish Independent on May 24, 2021 – read it here in full.

Co Meath man Donal McCann suffers from bleeding disorder Von Willebrand disease. He shares what life is like with the condition, his relief at not passing it on to his daughter and why he is telling his story to raise awareness

No loving parent wants to see their child suffering in any way — so from the moment their baby is born, its well-being will be of the utmost importance. So imagine how Donal McCann’s parents must have felt, when shortly after his birth in 1991, he began bleeding from his mouth and nose and was taken to the neonatal unit where he spent the first week of his life.

His father has a rare blood disorder called Von Willebrand disease (VWD), so his parents suspected that he may have inherited it. The bleeding continued for some time and it was discovered that the new baby did have this condition which affects the blood’s ability to clot.

“After spending the first seven days of my life in neonatal care with bleeding from my nose and mouth, my mother insisted that I was tested for VWD, as my father had it, so it was something she was concerned about,” says the 30-year-old. “But unfortunately it took many serious bleeds from my nose, mouth and even stomach before I was finally tested. My mother’s suspicion was confirmed and she was told that I did have VWD along with low levels of FVIII (an essential blood-clotting protein, also known as anti-haemophilic factor).

“Since then, my life has been made up of nose bleeds which can last for days. As a child, I would get mouth bleeds every time I ate crispy toast and need a visit to the hospital every time a tooth came up or fell out. I also had many joint bleeds which would start within a few hours of when, like any child, I would attempt to run or climb. And later on, as a young man, it would happen just by doing physical work.”

Donal, who is dad to 18-month-old daughter Darcy, says there is a “strong misconception” that people with VWD do not suffer from joint bleeds and also that it is predominantly an issue which only affects women due to menstruation.

“While obviously women have significant bleeding challenges each month due to menstruation, VWD affects men and women equally,” he says. “I personally have suffered from many joint bleeds — something, which despite crippling pain during my youth, I questioned whether it was even possible. And as a result of frequent hospitalisations and difficulty in accessing the right treatment, I distanced myself from my treatment centre. But I have paid the price for this as I now live with chronic pain.

“However, in my early 20s I became involved as a volunteer with the Irish Haemophilia Society and found myself among people with similar experiences and goals. This helped me to educate and empower myself to understand my condition, the necessary treatment and to advocate for myself and what I needed from my treatment and care. And this has made a huge difference to my life.

“Since then I began presenting myself to the treatment centre each time I had a bleed. They would keep me in hospital for three or more days at a time until I started getting home treatment which has made an incredible difference to my quality of life. I can now travel without losing days from bleeding and go out with friends (pre-Covid) safe in the knowledge that a nosebleed won’t start again as I’ve had my treatment. Getting involved with the society and taking charge of my treatment has been life-changing.”
While the Meath man, who works as a tractor mechanic, has learned to live with the pain and is managing his symptoms, his primary concern was his daughter, who was tested for the condition and thankfully does not appear to have inherited it.

“As the parent of a little girl, I understand the fear and uncertainty of having a child and not knowing whether you have passed on the condition or not,” he says. “For the first eight weeks of Darcy’s life we were constantly worried about the possibility of a nose, stomach or joint bleed and it became common to wake in the middle of the night to check for bleeding.
Little Darcy was tested for VWD, but she does not have the condition

“Darcy’s mother was, and has been, so supportive of the possibility that she may have a bleeding disorder. Her first test for VWD was taken from the umbilical cord and the results came back eight weeks later, but this is not an accurate test as the VWD and FVIII levels rise in pregnancy and are taken under stressful conditions.

“However, Darcy was tested again when she was 15 months old and four weeks later, we received the results which showed that thankfully she did not have the condition.” While it seems as though his child has not inherited the blood disorder, Donal says that other children are not so fortunate. And he would encourage anyone who has concerns to seek advice.

“I personally know of a situation where a child was tested at six months and had to wait an additional seven months for their results to come back,” he says. “I cannot imagine the worry those parents experienced while not knowing whether the child had a bleeding disorder or not, and in my opinion this should be the main focus.

“There are so many different types of VWD and therefore there are also different types of appropriate treatment, so it is vital that patients receive a speedy and accurate diagnosis to avoid any unnecessary complications.

“VWD is the most common bleeding disorder diagnosed in Ireland and treatment, care and awareness are slowly improving with an increased focus on underserved groups, including VWD. So I am delighted that the Irish Haemophilia Society are advocating and emphasising the importance of VWD for our community. And while I know change and awareness takes time, I’m delighted to be part of the conversation and to share my experience and my voice.”

Brian O’Mahony, CEO of the Irish Haemophilia Society (IHS), says although there are almost 1,650 people diagnosed with VWD In Ireland at present, it is an underdiagnosed condition and as such, the IHS would expect almost 4,900 would be officially diagnosed if all those suspected of having the disorder were identified. He would encourage people to be aware of the symptoms and seek advice if they have any concerns.

“In men or children, easy bruising or frequent, heavy nosebleeds may be the first sign of a bleeding disorder,” he says. “The most common warning sign for women is heavy periods, and, in fact, one in five of those with heavy periods will have an underlying bleeding disorder. But it can be difficult to tell, particular if menstrual bleeding is (characteristically) heavy. And even comparing yourself to other women in the family can be misleading as they, too, may also have low VWF levels or VWD without knowing it.

“Treatments for heavy periods, include hormonal contraceptives or IUDs and a synthetic hormone called DDAVP can be used for bleeding control. And an anti-fibrinolytic (which stops clots breaking down when formed) can also be used as can Intravenous injections of FVIII (Factor 8) containing von Willebrand factor.

“Both men and women with VWD can experience prolonged or heavy bleeding after dental procedures, childbirth, surgery or trauma. And any person who believes some of the possible signs of an underlying bleeding disorder could apply to them should, in the first instance, contact their GP who will refer them for specialised testing at the National Coagulation Centre for adults or Children’s Hospital Ireland at Crumlin for Children, if needed.”

What is VWD?

Von Willebrand disease (VWD), is an inherited bleeding disorder which affects the blood’s ability to clot.

There are currently 1,643 people in Ireland diagnosed with VWD of whom 618 are male and 1,025 are female, but the IHS believe the number is much higher.

VWD affects both men and women and is the most common inherited bleeding disorder with approximately 1 in 1,000 of the population being affected.

Women should be alerted to a potential problem if they experience bleeding which lasts longer than seven days and requires changing of pads or menstrual cup every two hours, or if they are passing clots larger than a €1 coin. Also, if they experience

unpredictable bleeding or bleeding which affects daily activity and requires time off school or work.

Possible early signs in men and children include frequent bruising and recurrent nosebleeds.

If you have any concerns, seek medical advice. For more information, visit haemophilia.ie.