As with many young couples, my wife and I were thrilled and terrified when we first learned we were going to become parents. Although we had been married for three wonderful years, we were not sure we were ready for the responsibility that comes with bringing a new life into this world. But as with most parents, even after 16 hours of induced labor, we both could not imagine our lives without our son.
As all first-time parents believe, our son was perfect, but over the next few days, we noticed his coloring was somewhat pale. After multiple calls to the pediatrician and a visit to the hospital, our son was diagnosed with jaundice and spent several days in the hospital. Worried, but still in awe of this new life, we brought him home to begin our new life as a family.
At four months, we noticed a small bruise on his knee, but the pediatrician told us it was nothing to worry about and so we didn’t. After a few days, the bruise was not dissipating, and we noticed it looked swollen so we took him to the local children’s hospital. What followed was a terrifying sequence of tests, mistakes and follow-up visits until we were finally told our son had severe hemophilia A. Neither of us knew anything about hemophilia and we spent his early years learning and searching for answers.
When our second son was born, we knew exactly what we needed to do. He was tested at birth, and he too was diagnosed with severe hemophilia A. This time we felt slightly more confident about how to handle his diagnosis. Having two sons with hemophilia allowed us to see firsthand the similarities and differences this condition presents in every patient.
During this period my wife and I began to discuss her bleeding issues and how debilitating her menstrual cycle had been throughout her life. We launched a dialogue about her concerns with our son’s hematologist and were told her difficulties were not related to a bleeding disorder. Over the next few years, we settled into parenthood and life with a bleeding disorder and all the ups and downs that come with raising a family. As a couple, we had decided not to have more children, primarily due to the probability of having another child with a bleeding disorder.
As our children grew so did the problems with my wife’s menstrual cycle. After multiple attempts to have her tested at the HTC to no avail, my wife discussed her issues with her gynecologist. After learning about her family history of bleeding disorders, her gynecologist submitted an order for a blood test to check her factor levels. The HTC was forced to review the results of the blood tests and it was determined she had 25% factor VIII which classified her as having mild hemophilia. The HTC told her she was considered, in their opinion, a symptomatic carrier. Although this was not the ideal diagnosis, we were content her issues were finally being acknowledged even though no medication was recommended or prescribed.
Our plan to not have more children did not work out as four years after our second son was born, we were given a delightful surprise in the form of a beautiful daughter. Naturally, we were concerned about our daughter’s potential for having bleeding issues like her brothers and mother. When we brought this up to our hematologist, we were told in no uncertain terms that girls are only “carriers” and there was no need to be concerned. We asked if she could be tested regardless to learn her factor levels but we were told the test was not medically necessary and as such, not covered by our insurance. We accepted the information, albeit with some apprehension, and continued our familial journey.
After the birth of our daughter, my wife continued to have bleeding difficulties that only increased in severity. Ultimately, she was diagnosed with uterine polyps due to years of excessive bleeding that was never treated appropriately. Her gynecologist stated the only way to effectively treat her condition was with a complete hysterectomy.
It was a difficult time for my wife, not only because of the surgery but also due to the lifetime of hormone therapy that would become necessary. In addition to the frustration of this new circumstance came the knowledge that if she had been treated as a hemophiliac, like our sons, some of this would likely have been avoided.
My wife and I immediately turned our attention firmly to the health of our daughter. We both agreed we would do anything necessary to avoid our daughter having to live through the same bleeding issues and consequences that her mother endured. My wife joined a women’s bleeding disorders support group to learn more about bleeding issues in general and to connect with other women in the community. We attended educational programs and began to prepare ourselves for the struggle we knew was coming.
When our daughter became a woman, we knew exactly what to do. The month after her first menstrual cycle she was seen by her gynecologist, and we explained how debilitating the cycle had been along with our family history of bleeding disorders. The gynecologist immediately ordered blood tests to determine her factor levels. An HTC appointment was scheduled to review the results of the tests. At the appointment, we were told that her factor levels classified her as a symptomatic carrier. When we asked about the severity of her menstrual cycle, we were told it was relatively normal for some women to have excessive bleeding. After discussing my wife’s history with the doctor and her eventual surgery, the hematologist ordered Stimate® and Amicar® to be used as necessary.
The HTC told us we would receive a diagnosis card in the mail to verify her condition. When the card was received, it stated our daughter was diagnosed with von Willebrand disease. I called the HTC to ask about her hemophilia A status and was told the diagnosis on her card was correct. I questioned which blood test showed a deviation in her von Willebrand factor and none could be found.
I politely requested a corrected diagnosis card be sent and the clinic agreed. The following week we received a new card listing the diagnosis as mild hemophilia A and von Willebrand disease. Our daughter has done well with her treatment over the years.
Several months ago, our daughter was recommended for a minor surgical procedure to remove a cyst. Naturally, the surgeon requested a medical clearance to be completed by her hematologist before surgery. During the HTC visit, her first in a few years, the hematologist informed us that the surgery should not be an issue as she was a von Willebrand’s patient and no treatment should be necessary. Even though our daughter is a teenager she asked me to be with her during the exam and I felt the need to correct the hematologist about her diagnosis. I asked if she could show me the test results that supported the diagnosis, and she answered that no tests were available in her chart.
The hematologist turned to my daughter and made the following statement, “There is no reason to worry. Women do not have bleeding issues.” At this point, my daughter looked at me somewhat confused, as if to ask, “Are you sure I have a bleeding disorder?” I must admit I felt a wave of frustration towards this “specialist” and concern, not only for my daughter, but for all the other young women who are potentially meeting with hematologists around the country and receive this same statement – this brush-off and lack of treatment, making them feel as if everything being experienced is either made up or unimportant, and neither is true.
I spent the next few minutes discussing my experience with women living with bleeding issues and the number of women that I know personally who require prophylactic intervention due to their condition. The doctor quickly backtracked and stated she meant that women who are bleeders are rare, to which I stated, “Hemophilia is rare.” The doctor decided to confirm my daughter’s diagnosis by ordering a panel of blood tests to check her levels.
A few weeks later, my daughter and I were at the HTC to review the results of her blood tests. This time we were seen by the clinic’s medical director, who reviewed the tests and explained the results did show that our daughter was a “carrier” of hemophilia A and due to her factor VIII level of 36%, she may need some treatment before surgery. I mentioned that if her diagnosis was simply as a carrier, our insurance might give us some difficulty reimbursing for factor. The doctor agreed and stated he would make a note in her chart that a 36% factor level constituted a mild hemophilia A diagnosis. To finally hear those words come out of an HTC hematologist about my daughter was an affirmation of what we believed all along.
I felt elated that we were finally able to confirm what my wife and I had known since the first set of blood tests were performed several years prior. At the same time, my heart sank thinking about all those young girls and women who have battled bleeding issues their entire adult lives and do not have access to someone who can and will advocate for and with them. To classify a woman as a “carrier” is to put her in a box and say she is fine. Technically anyone who has hemophilia, male or female, is a carrier. Think about it - men with hemophilia carry that chromosome to every daughter he fathers. Ergo, men, too, are carriers. We need to continue to work and advocate until everyone, regardless of their gender, receives the same level and quality of care possible.
