I feel validated after finally receiving a diagnosis I’d fought for
I applied the advocacy I learned with hemophilia to get a new rare diagnosis
It’s finally happened: validation.
The battle to get here was rough, but perseverance paid off. Seeing “Shellye, a patient with superior mesenteric artery syndrome (SMAS), presents for follow-up visit prior to surgical repair” written in my medical records made me want to cry. I felt the same way when my hemophilia diagnosis was finally recognized in my charts after years of being gaslighted and told that women don’t have hemophilia.
For the past few years, I’ve been dealing with increasingly debilitating gastrointestinal issues. Initially, doctors thought it might be a severe case of gastroesophageal reflux disease. I was prescribed 40 mg of Prilosec (omeprazole) twice daily, 20 mg of Pepcid (famotidine) once daily, and Gaviscon (aluminum hydroxide and magnesium trisilicate) before each meal, followed by an alginate gel after each meal. This thorough regimen was significantly higher than the typical dose of proton pump inhibitors that people take, but it still wasn’t effective.
Before I was diagnosed with hemophilia, I was advised to ice my joints, refrain from using them for a week or two, and take Tylenol for pain relief. This was unhelpful because I had active bleeds that required factor VIII to heal.
An exhausting pursuit
Those who’ve been following my story may know that an incredibly insightful emergency room doctor listened closely to me, put all the facts together, and thought outside the box. SMAS is a rare vascular compression disorder that affects less than 0.3% of the population. This rarity means it is often overlooked, particularly in the earlier stages, when symptoms are less pronounced. I genuinely believe that the ER doctor saved my life. She certainly saved my physical and mental health!
Similarly, the hematologist who acknowledged my hemophilia and put me on prophylaxis treatment changed my life as well. Sometimes all it takes is one provider who listens for a world to change.
Patients with SMAS struggle to eat and sometimes even to drink. This is because a portion of the duodenum (the first part of the small intestine) is compressed between the aorta and the superior mesenteric artery, blocking food from passing through the intestine. Unfortunately, there has been some inconsistency between institutions regarding whether I actually have SMAS. I obviously don’t want to obtain a diagnosis and undergo surgery if it isn’t necessary. This lack of consistency was both frustrating and terrifying, and is a common struggle for many patients with SMAS.
Similarly, in the past, I encountered treatment centers that diagnosed me with hemophilia, while others said I didn’t have it. When doctors disagree, it adds extra stress on patients.
SMAS is most commonly diagnosed using a CT angiogram scan, which shows an aortomesenteric angle of less than 22% (mine is 18%) and an aortomesenteric distance of less than 8 mm (mine was 4-6 mm). In my case, the distance measurement wasn’t initially taken, which delayed the verification of my diagnosis by months.
Advocacy is crucial
Sometimes I feel utterly exhausted advocating for the proper diagnosis and treatment of rare diseases. It took years for me to receive a diagnosis as a woman with hemophilia, as I had to prove that I was bleeding and experiencing other issues. I was shocked to find myself in a similar situation with this new rare disease.
What made my SMAS journey different was that I could apply the lessons I learned while advocating for hemophilia care, primarily, to never give up. I learned to never apologize for standing up for myself and my care. I used medical journal articles and facts to support my case. I documented everything.
This week, I reconnected with the healthcare system that was struggling to believe I had SMAS. I brought three journal articles with me to help explain to a very sympathetic provider how to read scans for an SMAS diagnosis. I also presented my scans with the proper measurements. Our conversation ended with a hug and full acknowledgment that I have SMAS.
With rare diseases, a diagnosis often feels like the most significant battle. Once that’s achieved, the path forward becomes clearer. Although the journey of living with a rare disease is challenging, obtaining a diagnosis opens doors for support and care.
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.
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