I am trapped in a man’s world.   But of another kind.  For many years, medical science believed that bleeding disorders such as Hemophilia only affect boys and men.  And so even as I grew up experiencing heavy monthly bleeds, doctors never considered me a candidate for a  bleeding disorder.

As a group, bleeding disorders are rare.  It is caused either by a defect or absence of a certain protein in the blood called factor, affecting the person’s ability to clot naturally.  There are 13 factors in our blood and when one of it is missing, it will cause a bleeding disorder.

Hemophilia A (Factor VIII deficieny) affects 1 in every 5,000 males.  Hemophilia B (Factor IX deficiency) affects 1 in every 25,000 males.  The most common type, von Willebrand Disease (von Willebrand Factor deficency), affects one percent of the population.

Bleeding disorders, particularly Hemophilia A and B are usually sex-linked. When a mother carries the hemophilia gene, she is more likely to pass it on to her male offspring.  On the other hand, males are likely to pass it on to their female offspring.

How Hemophilia is passed on

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Photo credit: http://www.ihtc.org/wp-content/uploads/2010/05/Hemophilia-Figure-1.jpg

The National Intitutes for Health explains that chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting factors.

The genes associated with these conditions are located in the X chromosome, which is one of the two sex chromosomes.

In males, who have only one X chromosome, one altered copy of the gene in each cell is sufficient to cause the condition.

In females, who have two X chromosomes, a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, it is very rare for females to have Hemophilia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

Other types of bleeding disorders

But there are other types of bleeding disorders that are not sex-linked. Thus, any parent can pass on the defective gene to their offspring.  Likewise, there have been a number of documented cases where supposed “carriers”  actually show symptoms of  the disorder themselves.  And of supposed X-linked type that do not skip children of the same gender.

Mother’s death

My family is an example of a bleeding disorder that is not sex-linked (or autosomal, in medical term).  My mother who died of excessive blood loss in 1988 during a biopsy operation.  Even though she insisted that she had bleeding tendencies, doctors refused to believe.  Bleeding disorders only happen in boys and men, they said.

Our diagnosis

Fast forward to 2006.  My daughter Star had been nosebleeding daily for a month in a row.  She was born in 1998 with bruises all over her body.  At three weeks old, we rushed her to the emergeny room after she had a nosebleed. That was the first.  I suggested to her attending doctors that she could have inherited my mother’s bleeding problem. But they said it could not be possible. She’s a girl.

Mother’s instinct told me that something was just not right. And so when her nosebleeds became more frequent in 2006, we decided to go abroad to have her tested one more time. Because of my family history, the doctor tested me as well.  Three months later, the results came out — Star and I both have von Willebrand Disease (Type 2M), a type of bleeding disorder also known as pseudo-hemophilia.

Into the unknown

Suddenly, we were thrust into the unknown.  Bleeding disorders are rare. But bleeding disorders in girls and women are even more rare.  Back in the Philippines, there were hardly any girls and women diagnosed with it at that time.

With a young daughter affected by a disorder that caused my mother’s death,  I became determined to fight it.  I would not allow bleeding to consume us. Never again.  It deprived me and my siblings of a mother’s love in our teenage years.  I would not allow it to deprive my daughter of living a normal life.

Advocating for people with bleeding disorders

Our diagnosis led me to advocate for people with bleeding disorders.  I wrote to all hemophilia societies and organizations I encountered in the internet.  One of those who wrote me back was a kind lady name Laurie Kelley.  Following the diagnosis of her son with Hemophilia A, she founded a humanitarian organization called Project SHARE.

In 2008, Laurie came to the Philippines and it started my involvement as volunteer of Project SHARE and Save One Life, another non-profit that she founded.

I went around the country with Laurie and in our fact-finding mission, I found out that about 90 percent of the patients are poor.  Many die because of lack of access to proper treatment.  Hemophilia is one of the most expensive diseases to treat.  According to a Forbes magazine article, treatment could cost an average of US$62,000 a year.

HAPLOS

Ironically, it was my contact with Laurie Kelley that led me to the local group — the Hemophilia Association of the Philippines for Love and Service (HAPLOS), the national organization for people with bleeding disorders.

Project SHARE has been instrumental in saving people with Hemophilia through donated medicines called factor concentrates.  These are concentrated forms of the missing or defective components in the blood of people with the disorder.

Save One Life, on the other hand, gives financial assistance to poor patients.  Both organizations have changed lives of thousands of people with Hemophilia and bleeding disorders in developing countries including the Philippines.

My Girls Blood

In 2011, I joined a global social network of women with bleeding disorders called My Girls Blood founded by Cheryl D’ Ambrosio, a Seattle-based step-mom of two ladies with Factor V deficiency.

Blessing in disguise

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Visiting 9-year-old John Saulo Odo at the Philippine Children’s Medical Center. John Saulo has multiple joint bleeds.

Volunteering in the hemophilia community takes so much of my time, and sometimes, zaps me of energy.  There were times when I visit patients and all I could do was to cry with them and offer prayers.  Yet, it has helped me more than I have helped others.  Many times, people, even those I no longer remember, would come up or send messages of appreciation.  But unknown to them, I am even more grateful.

They say illnesses are curses.  But to me, our bleeding disorder has become a blessing.  It enabled me to look beyond my family’s own needs.  Yes, my daughter and I constantly need blood.  Yes, monthly hospital confinements are our “normal.”  But it has also widened my horizon.  It taught me resilience. It also led me to meet many wonderful people around the world.   There are patients, mothers, wives, sisters and girl friends whose dedication are awe-inspiring.

There’s Laurie, whose humanitarian organizations touched lives of thousands across the world. There’s Cheryl, who started a global movement for women with bleeding disorders. There’s Nabila, who has passionately led her women’s group in her region and changed how men look at women in her country — at least in the Hemophilia community.  There’s my Star, who at 16 has accomplished more than I had at her age.  And there are  so many other women, whose concerted efforts changed mindsets and opened the eyes of the male-dominated world of hemophilia.

We may be women trapped in men’s world.  But together, slowly but surely, we have made a difference.  Happy women’s day to us all! :)

To help people with Hemophilia, you may donate to Save One Life at www.saveonelife.net.

(Updated version, March 8, 2015.)

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About Andrea Echavez

I am an advocate for people with bleeding disorders. My daughter Star and I were diagnosed with von Willebrand's Disease Type 2M.

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