I've blogged many times about the bleeding disorder in our family which affects our 8-year-old daughter Star the most. Since Star was diagnosed with von Willebrand Disease, we have taken a personal crusade to inform people about this disease and prevent senseless deaths like my mother's. I hope you can help me spread this blog especially to doctors and parents. Who knows, through this you'll be able to save a life. For those with a similar experience, please PM me or email me.
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Is there a bleeder in the house?
By Andrea Trinidad-Echavez
Does your child easily bruise or frequently nosebleed? Do you wonder why he or she always gets bloody while brushing teeth?
Don't take those seemingly harmless signs for granted. They might just be symptoms of something else.
For years, my husband and I had been looking for answers to the condition of our youngest daughter, Star.
Catching colds from her older siblings few days after she was born, we were alarmed when blood started dripping from Star's tiny nostrils barely before she turned a month old.
At first, we thought hers was only a bad case of colds. Nevertheless, alarmed of the sight of blood, we rushed her to the emergency room. The pediatrician ordered blood work-ups on Star. When the results came, there was nothing significant in the findings except that she was anemic. She was given an extra dosage of iron.
As she was growing up though, Star's nosebleedings became more frequent. It came anytime of the day. Initially, we thought it had something to do with the temperature. But even when we confined her inside an air conditioned room on humid days, she would still bleed. It didn't also matter whether she was indoors or outdoors, or playing, sitting down, or sleeping.
Over the years, we got used to her teachers, school nurse or even school service driver calling us to express concern over her frequent nosebleeding. (Star started going to school at 6 months under UP Diliman's Infant Development Program of the
Last year though, Star's nosebleeding came at an alarming frequency – this time, almost daily. Sometimes, it would come up to four times in a day. After a series of trips to different specialists, we were already becoming frustrated. By then, Star was nosebleeding for almost a month in a row.
Family of bleeders
We had all the reasons to be alarmed. Bleeding runs in our family. My mother literally bled to death while undergoing a minor surgery. This, even after going through routine blood tests prior to the operation. The 10 bags of blood transfused on her didn't help at all. Few hours after she entered the operating room, she expired on the operating table while the doctors were trying to stop her bleeding. She was only 51. An uncle, my mother's older brother, almost died of bleeding while undergoing tonsillectomy. My eldest sister suffered hemorrhage and almost died during her first childbirth. My other older sister had two or three miscarriages.
Every time we bring our daughter to a doctor, I would give a rundown of our family history. Yet, it didn't seem to help pin down where Star's nosebleeding came from. Finally, we were referred to a well-known hematologist who specializes on hemophilia.
Von Willebrand Disease
"I suspect your daughter has von Willebrand Disease," Dr. Mary Chua, founder of Hemophilia Association of the Philippines for Love and Service (HAPLOS), told me after I gave her Star's and our family history.
Von Willebrand Disease, she explained, is a rare clotting disorder similar to hemophilia. While hemophilia is considered a "men's disease" because it occurs primarily among males, von Willebrand Disease can affect both males and females.
Rare genetic disorder
According to kidshealth.org, von Willebrand Disease is the most common bleeding disorder. But bleeding disorders, in itself, is considered rare. Von Willebrand Disease, for instance, affects barely 1 percent of the population. In the Philippines, there are less than 20 known cases.
People born with the disease may either have defective von Willebrand factor, low levels of von Willebrand factor or no von Willebrand factor at all.
Von Willebrand factor is a protein in the blood that is necessary for clotting. Without it or with defective von Willebrand factor, the blood takes longer to clot. This causes abnormal bleeding, and in the case of my mother, could even lead to death from blood loss.
No diagnostic facilities in the country
Unfortunately, there are no facilities in the country that can diagnose von Willebrand Disease. We were told the tests are quite complex that it needed special reagents and machines. The technology is only available either in Hongkong or Singapore in Asia. We were advised to bring our daughter to Queen Mary Hospital in Hongkong.
We flew to Hongkong November last year. The procedure was as simple as regular blood tests, only more blood samples were taken. Since von Willebrand Disease is a hereditary disorder, the doctor also took blood samples from me.
Because of the intricate procedures in the tests, the diagnosis came out only in March this year. It confirmed Dr. Chua's suspicion. My daughter has von Willebrand Disease Type 2M. And I have it too.
Types of von Willebrand Disease
According to the World Hemophilia Federation, there are three main types of von Willebrand Disease – Type 1, Type 2 and Type 3.
Type 1 is the most common form of the disease, accounting for approximately 80% of all cases. It involves a deficiency of the von Willebrand Factor.
Type 2, of which there are four subtypes – Type 2A, B, M and N, involves a qualitative defect of the factor wherein it does not function properly.
Type 3, on the other hand, involves a near or complete absence of the factor, and is the most serious type.
Diagnosing von Willebrand Disease is not easy. That is why a lot of patients live with it for many years before finding out that they have it, if at all. Many doctors may not even be familiar with it.
In our case, we have sought out at least 10 specialists over the past seven years, ranging from hematologists, ENT, neurologist to nephrologists, if only to find out what was causing our daughter's nosebleeding.
Unlike hemophilia, von Willebrand Disease cannot be spotted in just a few blood tests. Oftentimes, it is misdiagnosed because many doctors are not familiar with it. For instance, a person with a low platelet count because of Type 2 von Willebrand Disease could be diagnosed with leukemia. Or a woman with heavy, prolonged menstrual bleeding because of von Willebrand Disease, who has not responded to hormone therapy, could be advised to have a hysterectomy.
In some cases, nosebleeding could be construed as deviated septum (physical abnormality in the nose) or that it could simply be brought about by either extreme or sudden change in temperatures.
Dr. Chua said this is where clinical history plays a crucial role. Most documented von Willebrand Diseases cases in the Philippines were identified through their clinical history, such as the symptoms shown by the patient. These may include frequent or prolonged nosebleeding, easy bruising, gum bleeding, prolonged or heavy menstruation, and prolonged bleeding during surgery, accident, medical or dental procedures.
Family history could also be very helpful in identifying possible von Willebrand Disease patients. In our case, my side of the family history helped Dr. Chua identify my daughter as a probable patient.
Laboratory tests are necessary to know what type of von Willebrand Disease the patient has so that appropriate treatment could be administered.
Not fatal but…
Fortunately, von Willebrand Disease is not as fatal as cancer, leukemia or other blood diseases. People affected by the disease may still live a normal life for as long as they receive regular treatment.
But patients are normally advised against engaging in high impact activities that may cause injury. Because of the clotting factor deficiency, deep cuts may take long to stop and worse, may lead to death by blood loss like my mother. Von Willebrand Disease patients are also prone to internal bleeding.
In von Willebrand Disease, according to Dr. Chua, it's the patient's quality of life that suffers. "They have to contend with constant bleeding. They may feel weak or they may acquire other diseases as a result of the low immunity," she said.
Prior to any medical or dental procedure, patients are also advised to see their hematologist for proper treatment to regulate clotting and prevent blood loss.
So, if you suspect someone in your family has a clotting problem like von Willebrand Disease, don't waste time. See a hematologist. It's always better safe than sorry. (ate)