The Power of Multidisciplinary Rare Disease Care

I used to hate any doctor's appointment. Having been born with hemophilia, many of my earliest trips to the hospital resulted from a nosebleed or a playground incident. Those visits usually peeled me away from something fun and reminded me how different I was from my friends.

As I got older, my relationship with and trust in my healthcare team grew. I viewed my favorite doctors and nurses as adult friends – akin to aunts and uncles – who would patch me up. Before I knew it, I was back to childhood shenanigans with my buddies. Since I have moderate hemophilia, the kind of goofball accidents that landed me in my ENT's office became rarer and rarer as I entered my teens.

Managing hemophilia and co-occurring conditions

My first hematologist was an hour and a half away. He actually had to become an HIV specialist because most of his patients – like me – had been exposed to HIV via the contaminated blood products used to treat hemophilia in the 1980s. I hated those long drives with my mom so much. Hemophilia itself had become less of an issue for me, overshadowed by the latest addition to my medical history.

In my early 30s, I was on top of my medical needs regarding HIV. My medications were working brilliantly, and my viral load was (and remains!) undetectable. But with hemophilia? Not so much. That became a problem when my left ankle joint started to show signs of wear and tear. I also started to have pesky little bleeds, some of which I ignored entirely rather than treating.

Why I started taking my bleeding disorder more seriously

Bad habits regarding hemophilia were forming and, just like when I was a kid, I'd only see my new hematologist when a bleeding episode happened. The one that made me realize I needed to take hemophilia more seriously than ever before was when I slid into a booth at a restaurant and hit my side on a ridiculously placed steel beam.

The bruising on my love handle grew from the size of an apple to the size of a grapefruit before reaching watermelon proportions. Finally, I went to my hematologist, who gasped when I raised my shirt to show off the damage. For the next week and a half, I returned to the hemophilia treatment center (HTC) to receive clotting factor, which is given intravenously.

After that, I decided it was past time to learn how to self-infuse at home. That meant I could treat a bleed and head it off before it even got to the size of a grape.

What to expect at a hemophilia treatment center visit

Recently, I had my yearly hematology appointment. I'm so lucky to have a hemophilia treatment center in town that seems to have grown alongside my own self-improvement regarding my bleeding disorder.

In the last few years, my appointments have included discussions with a social worker and a physical therapist. At each appointment, the entire team makes sure that I'm on track: literally from head to trick ankle.

Here's a rundown of how my appointments go.

Hematology labs and medical history review

First, I arrive 30 minutes early at the University of Virginia's Hematology and Oncology Center. I get labs drawn so that during my appointment, my hematologist has all the information my plasma can provide. Then, I chat with an RN about any recent bleeds, aches, or pains.

Physical therapy for joint health and mobility

After that, the physical therapist comes in. Even though I only see him once a year, he comes in ready to see how my left ankle is doing. I take my shoes off and walk down the hall as he observes. When we go back into the exam room, he gives me some tips on how to strengthen the weaker aspects of my ankle mobility.

He always gives me small, stretchy TheraBands to exercise the joint, which I may or may not use with regularity... there's always room to improve on my end. To help me remember, I'm keeping those bands by my gaming chair so I can strengthen my ankle in between online games with my friends.

Social work and mental health support for rare disease

After the ankle exercises, a social worker checks in. I am asked about my mental health and general state of well-being, such as how things are going at home. Hemophilia can be a very expensive condition for those who fall through the cracks, and fortunately, the University of Virginia has many programs that help. Having someone there to check in with patients regarding the financial and emotional aspects of health care is such a relief.

Comprehensive care with a hematologist

Then, my hematologist reviews some of the bleeds I've treated at home over the previous year. Usually, it's me bumping into something every few months or so, resulting in a minor incident that is easily taken care of on my own. Whenever I treat at home, I send her a message to let her know what happened.

Then, I totally forget about it. I laughed when she reminded me what caused my last treatment back in November—smacking my side with my brother's Christmas present, a 25-beer Costco advent calendar, while trying not to spill my iced mocha all over myself.

Patient advocacy and the importance of multidisciplinary care

I'm thankful to have access to such wonderful care, and I'm proud of myself for doing my part to make things go a lot smoother than they did several years ago.