As soon as Madhu and Sugastha’s daughter, Vasudha, was born, a nurse performed a routine blood prick to check the baby’s glucose levels. Since Sugastha had developed gestational diabetes during her pregnancy, the test was making sure that her newborn daughter’s blood sugar was within a healthy range.
“But then, that little spot on her toe didn’t stop bleeding for more than a day,” Madhu recalls. “The nurses chalked it up to the fact that she was a little baby, kicking her feet around, and that’s why the bleeding wouldn’t let up.”
It was just the beginning of mysterious bleeding events though. Over the first year of Vasudha’s life, her parents noticed strange instances of prolonged bleeding that resulted from small scrapes. When she was 8 months old, they grew concerned when bruises began appearing all over Vasudha’s body for seemingly no reason. Their elder son, Saketh, had never experienced any of this when he was a baby.
“We went to our pediatrician and he told us about the possibility of von Willebrand disease,” Madhu says. “Up until this point, I had heard about hemophilia but didn’t have any other knowledge about bleeding disorders.”
Von Willebrand disease is the most common inherited bleeding disorder — as many as 1 in 1000 babies are born with it — and it affects the body’s blood clotting process. There are several types of the disease; they are known as Types 1 through 3, with Type 3 being the rarest and most severe form of the condition.
“Our pediatrician ordered a blood panel test for Vasudha,” Madhu says. “He called us with the results and said that it was the worst-case scenario, Type 3 von Willebrand disease.”
From zero to Type 3 von Willebrand disease
Madhu and Sugastha felt overwhelmed and at a loss for information — they turned to scientific literature that they found online to learn more about the disease. Based on what they read, they were frightened to imagine what might happen to their daughter when she reached puberty and began menstruating. And what would happen if she ever gave birth to children of her own?
“We were dreaming up nightmarish scenarios in our minds,” Madhu says.
When they reached out to a nearby bleeding disorders specialist in western Massachusetts, they became even more worried to hear that he had never before seen anyone with Type 3 von Willebrand disease.
They were very relieved when they discovered the Boston Hemophilia Center and learned that its pediatric specialists — based at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center — were equipped to provide comprehensive care for not only hemophilia but also von Willebrand disease and many other bleeding disorders.
“Type 3 von Willebrand disease occurs when a genetic mutation completely blocks the body’s production of a critical blood clotting element called von Willebrand factor,” says Dr. Stacy Croteau, who is the associate director of the Boston Hemophilia Center and has been treating Vasudha for several years. “To compensate for this deficiency, patients receive intravenous (IV) infusions of concentrated von Willebrand factor from donated blood plasma.”
Banishing fears with a straightforward care plan
With their daughter in the care of the specialists at the Boston Hemophilia Center, Madhu and Sugastha seized at the chance to learn more about von Willebrand disease.
“We probably emailed her doctor about 60 questions at a time,” Madhu says with a laugh. “Quickly, we realized that looking for answers online had led us down a road of fear — on the internet, we found lots of scary stories of people suffering internal bleeding and horrific nosebleeds.”
Soon, with the help of Vasudha’s care team, their outlook became more hopeful. Not long after getting connected to the Boston Hemophilia Center, Vasudha was able to start receiving blood plasma transfusions to treat her condition.
“Oftentimes, regular at-home infusions (prophylaxis) for type 3 von Willebrand disease can begin in young childhood,” Dr. Croteau says. “The von Willebrand clotting concentrate is shipped right to the patient’s home. A home infusion nurse will visit twice a week to administer the transfusion though an intravenous line until the parent or the patient feel comfortable doing it themselves.”
Over the years, Madhu has learned how to give Vasudha’s transfusions — and often does give them out of necessity or convenience — but the family still enjoys the help of a home infusion nurses whenever possible.
“Since I’m her dad, it’s only natural that she’s more likely to give me a bit of grief during the process,” Madhu says with a smile. “The nurses, on the other hand, always have her full cooperation.”
Learning from first-hand experience
Now in kindergarten, Vasudha is getting more involved in managing her condition.
“Like many kids her age, she’s learning some of the terminology and will actively engage in conversations when she visits the clinic,” Dr. Croteau says. “She’s really good at reporting nosebleeds and other injuries to her parents or her teacher.”
Since her diagnosis, the family has helped advocate for people with von Willebrand disease. Based on his first-hand experience, Madhu offers advice to other parents who are coping with a child’s recent diagnosis.
“Don’t worry about the things you can’t control in the moment and try not to be too overprotective,” Madhu says. “When we went overboard with worrying about Vasudha’s safety, we weren’t having as much fun as a family. Now that we have a handle on her health situation, we’ve been able to ease our fears and grant her the opportunity to have a more normal childhood.”
Another very important factor, Madhu advises, is to carefully manage the experience of any other siblings.
“It’s really important to provide an equal amount of attention to all siblings — we struggled for a few years with how to balance the full time job of managing Vasudha’s health with assuring our son, Saketh, that he was just as important to us.”
Most of all, Madhu says to avoid using the internet as a main source of information.
“There’s definitely too much negative information out there,” Madhu says. “Stay out of the chat rooms and instead, talk with a specialist about how best to focus on your individual child and their unique care plan.”