We all know about #hemophilia, as the AIDS epidemic made us real familiar back in the 1990s. Ryan White suffered with this genetic disorder and because of it, contracted the HIV virus leading to AIDS and ultimately his demise. His very unfortunate circumstance made us process our fears about HIV, learning everything we could about AIDS and how we could avoid becoming susceptible, even completely overhauling how we care for clients in the hospital and protect ourselves as practitioners.
As a midwife, I had a few clients come through my practice with some level of connection to hemophilia, but it was once believed that women were simply a carrier, yet not really susceptible to the dangers of hemophilia because this was specifically a X chromosome variant. Certainly this isn't a common disease, so unfortunately if I share any little bit about my experiences with hemophilia in either my midwifery practice or my family practice, it will be far too apparent with whom I am speaking, even without sharing names.
Alas, I'll share that the newborn metabolic screening doesn't evaluate for hemophilia, for reasons I am not quite sure, but let me tell ya becoming aware that you've drawn blood on a newborn with hemophilia, even having attended their birth with potential for bruising, makes you feel real thankful the universe had your back on that one. More often this is diagnosed following circumcision, which very few of my clients chose. As well, while it has been known for quite some time that women who carry this recessive gene can express hemophilia if they are in a circumstance that ultimately leads to hemorrhage, such as childbirth, know that today they now include women in this diagnosis when they meet diagnostic criteria. #themoreyouknow
Hemophilia A is an inherited bleeding disorder (for the youngins who don't remember the 90s) in which blood doesn't clot normally. People with Hemophilia A will bleed more than normal after an injury, surgery, or dental procedure. This disorder can be severe, moderate, or mild so that in some, even spontaneous bleeding can occur. Those with more severe cases may experience bleeding into the joints (arthralgia), muscles, brain, or organs which may be their first symptom leading to diagnosis. Other times bleeding in the mouth makes this apparent or spontaneous development of large bruises without trauma. Of course bleeding within the brain or spleen is the major concern. In milder forms, this may not be diagnosed until surgery or with some sort of serious injury.
Hemophilia A is caused by having low levels of a protein called factor VIII which is needed to form blood clots. This diagnosis is made through identifying clinical symptoms, so these little ones, sometimes much more grown, have to first experience a bleed. Generally this is realized by the age of eleven years. They then undergo specific laboratory tests to measure the amount of clotting factors in the blood. This is believed to be fewer than 50K people in the United States. Interestingly, although genetic, only about one-third of those found to have hemophilia have a known family history yet more than half have the severe form.
Girls have long thought not to have hemophilia, but we now recognize that when clotting factors are less than 30 percent, they too can be recognized as having hemophilia, which we may see with heavier menses and even during childbirth.
How is Hemophilia A Treated?
The best place for individuals to be treated for hemophilia is at one of the federally funded hemophilia treatment centers that are spread throughout the country. These centers provide comprehensive care from skilled hematologists and other professional staff, including nurses, physical therapists, social workers and sometimes dentists, dieticians and other healthcare providers, including specialized labs for more accurate lab testing.
As a primary care clinician, my role is more support, assuring the family hasn't met any barriers that may prevent them from maintaining close connection with their local hemophilia treatment center. It's also about addressing other issues that might impact the family, such as fear, anxiety, and social isolation. Can you imagine how hard it is to find someone to even babysit an infant with hemophilia?
While my clients are so educated in hemophilia, the reality is I am often learning from them about this disease, in many populations our role is to assure the client understands this disease, how to properly manage it, and how to prevent catastrophe. These scenarios can be very overwhelming making it challenging to retain information when in the specialty clinic so reinforcing or offering a different explanation can help improve outcomes. Consider that they must navigate school issues, adapt their exercise and play time, even consider workplace accommodations. More than once I've heard a mom of children with hemophilia say, "Don't use your hemophiliac brother as a pinata!"
Can you imagine the mental and emotional burden of these parents though. The work of coordinating treatments, becoming both your child's nurse and place of comfort, while coordinating care for siblings while meeting all other adult responsibilities - while likely being very socially isolated? These families really do endure so much. My heart goes out to them.