Even amid medical challenges, I find reasons to be thankful

I can already tell this journey will be long, and that sucks. I remind myself to breathe. Inhale for a count of three, hold for a count of four, exhale for a count of five. Repeat. I wring my hands, fight back tears of frustration, and try again. I name five things I can see, four things I can hear, three things I can touch, two things I can smell, and one thing I can taste. These exercises are supposed to be grounding, but sometimes I need more.

I am upset. I want a final, official medical diagnosis for my recent gastrointestinal issues. I had my CT scans read at an emergency room, but they were missing the measurements needed to diagnose my suspected condition. Another read didn’t include the measurements, either. I want to cry.

The working suspicion is that I have a rare vascular compression disorder called superior mesenteric artery syndrome (SMAS). In SMAS, a portion of the duodenum (part of the upper small intestine) is compressed between the abdominal aorta and the superior mesenteric artery, preventing food from passing through.

Critical to an SMAS diagnosis are measurements of the aortomesenteric angle and the aortomesenteric distance, which indicate how much the duodenum is being compressed. While I’ve been able to use digital tools to measure the angle and distance on my own scans, I have yet to receive official measurements.

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November 5, 2024 Columns by G Shellye Horowitz

Why I’m thankful for my delayed hemophilia diagnosis

Accessing experts for better help

I call a top SMAS expert’s office. The scheduler tells me the visuals from the scan with my added measurements are within diagnostic parameters, and I could make an appointment. However, the office doesn’t take insurance and the initial consult would be more than $1,000. This makes me feel so vulnerable.

I have providers who are trying to help, but they’re not experts on SMAS and don’t know what to look for. Then I have experts who understand and are willing to schedule me right away, but not without significant financial sacrifice. Surgery with out-of-network providers and facilities can cost hundreds of thousands of dollars.

Past medical trauma triggers me in these types of situations. I spent decades fighting for a diagnosis of hemophilia.

“Girls cannot have hemophilia,” I was told. “You cannot possibly be bleeding with factor levels in the 20s,” I heard. “If the factor VIII replacement products aren’t working, then you don’t have a bleed.” (I later learned that my body clears some factor products too quickly, making them ineffective at stopping bleeds.)

It feels too familiar.

I debate whether to keep additional scheduled diagnostic tests. What if the new scans are misread or not measured? After working hard to center myself, I realize I can get the tests done, and then request that all my records be sent to one of the few SMAS experts in the country. I cannot expect scans to be read correctly by individuals who are not well versed in this rare condition. Leave it to me to develop a health issue even rarer than hemophilia, with even fewer experts across the U.S.

Focusing on gratitude

I take another step back and center myself with gratitude. I am so lucky I got to an emergency room doctor multiple states away who recognized this condition and started me on the road toward diagnosis. Even if my local care team isn’t familiar with SMAS, I have a condition name to pursue. If I hadn’t gone to that ER, I’d be on a much longer journey to diagnosis. Many SMAS patients wait years or even decades. How fortunate I am!

There may not be many experts across the U.S., but there are some. A few take my insurance, even if they are several states away. How lucky am I that there are a few experts in my network? This is a gift.

I decide that once I receive the results from my next round of testing, I will schedule an appointment with an expert in the same health system as the doctor who suggested the diagnosis. It makes sense to consult with someone who treats this rare disease regularly and performs multiple reparative surgeries a year. I drive eight hours each way to get to my hemophilia treatment center, and it seems I’ll be flying several hours to connect with an SMAS expert. Thank heavens I have the capacity to do so.

When I infuse my hemophilia medication, I often stop and honor the long journey I’ve traveled, and consider how lucky I am to now have the treatment I need. Even amid new medical struggles, gratitude can still shine bright. This, too, will be resolved — eventually.

Note: Hemophilia News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Hemophilia News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to hemophilia.