by Krista Davidson, VHF Community Member and Board Member
Do you ever have that feeling that something is not quite right, but you just can’t put your finger on what exactly feels off? My family is affected by mild hemophilia A. Lately, I’ve been thinking more about the challenges (past, present, and future) we face living with a mild disorder. Most of the time, I feel confident; we’ve got this under control. At other times, as I share over the following few paragraphs, I wonder if we do. Despite our excellent support system, I usually end up burying concerns deep down out of a strange sense of guilt and not knowing who to speak to or how to bring them up. Recently, I began a simple online search, and as it turns out, what we’ve been experiencing off and on throughout the years is indeed valid.
For starters, The Journal of Clinical Medicine raises concerns about individuals living with a mild disorder and the challenges of obtaining a diagnosis. “Underdiagnosis or delayed diagnosis, lack of medical and patient’s awareness, and misdiagnosis based on unusual non-suggestive presentation or outcome are prerequisites of a true hurdle in the management of this disease.” That is a mouthful. Essentially, an individual may overlook or dismiss signs and symptoms of a bleeding disorder if they are uninformed, which can delay or complicate care. The individual may be the provider or the patient. My father, a Korean War veteran and a police officer, was around sixty at the time of his diagnosis. He told us that in his day, it was something you didn’t discuss. He spoke out after my sisters began having their children, and the boys were having bleeding issues. In turn, they helped him get his diagnosis.
Some with mild disease may go through life and only experience bleeding after an injury or surgery. Others may experience bleeding more frequently due to genetics and other factors. Besides the difficulty in getting a diagnosis, according to Haemophilia, the official journal of the World Federation of Hemophilia (WFH), characteristics of people with mild disease can include:
- variability in bleeding symptoms, treatment needs, and complications
- diagnosed at an older age, often after trauma or surgery
- some bleeding episodes may not be obvious; patients are evaluated less frequently in HTC’s
- tend to seek care only when they experience major bleeding episodes or persistent symptoms
- not able to self-administer factor concentrates
- delays in management of bleeding episodes
- benefits of prophylaxis are unknown
- often not included in or a focus of clinical trials
These characteristics feel familiar, the “not quite right.” As our son grew up, we had a plan for emergencies, but there was little emphasis on teaching him how to self-infuse; yet we knew that infusing his factor was the most important thing to do. It has only been over the past few years that he has taken it upon himself to learn with the help of the bleeding disorder community; he is almost nineteen.
Haemophilia shares additional concerns, including “a lack of engagement with the HTC community; issues with access to treatment, disclosure, activities of daily living and recreational activities; and lost days from school and work.” I have found that a lack of preparedness for emergencies and complacency between bleeding episodes are also problematic. It is anxiety-inducing. For example, our specialty pharmacy (not part of this community) recently lost its contract with the manufacturer of our factor because the pharmacy had not ordered the product in a while. I did not know this could happen. Cue the panic while we were in factor limbo. Thankfully, we did not experience a medical emergency while sorting out the issue.
The research is relatively recent, written within the past five years. Light is being shed on understanding the challenges of living with a mild disorder; there is so much more that we don’t know and so much more to explore, like women who bleed too. So where do we go from here? Enhancing provider training on bleeding disorders and improving earlier diagnosis for those experiencing bleeding signs and symptoms are good places to start. More research on those with mild disease and women with bleeding disorders will be critical. What about expanding indications for treatments that we already have? Will there be a subcutaneous therapy option for mild bleeders in the future? I hope so. I’m sure there are as many solutions to the challenges we face; we just need to work together to figure them out.
For more information on this topic, see the links below:
- Hemaware: Mild Hemophilia – Symptoms don’t often surface until major surgery or trauma
- HFA: Mild Matters
- NBDF: What Is Mild Hemophilia?
- Non-severe hemophilia is not benign? – Insights from the PROBE Study
- WFH: Mild Hemophilia Treatment Guide
Please join us at the Medical Symposium at Great Wolf Lodge in Williamsburg from September 12-14 to connect with members of the bleeding disorder community and receive support. RSVP by August 13th; we hope to see you there! You can register here.
