An ITP diagnosis wasn’t the final word on my health setbacks
My diagnosis changed from primary to secondary ITP when aHUS appeared
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Living with a rare disease means that each day can bring a strange new adventure. Many doctors are either surprised or perplexed when they meet me for the first time because I’m an anomaly, as I have multiple rare and chronic diseases. Every time I am diagnosed with a new disease, it has the potential to change the entire course of how we treat my existing conditions and how we monitor relapses or symptom flares.
In 2018, after experiencing unexplained fatigue, bruising, and abnormal menstrual cycles, I was diagnosed with immune thrombocytopenia (ITP). This condition causes my immune system to attack my blood platelets. Thankfully, I was not at a critical point and was able to be treated with blood transfusions and corticosteroids.
When I was diagnosed, it was important to determine whether I had primary or secondary ITP, as this affects how we look for symptoms of a relapse and how we manage it. Primary ITP means there is no underlying disease triggering the condition. If ITP is my primary disease, then simply addressing my immune system and replacing platelets can be enough to manage an active relapse. While it sounds alarming for a rare disease to be primary, ITP’s most severe symptoms can be effectively treated if addressed quickly.
However, ITP is often secondary, meaning another disease can be linked to it or can trigger it. I had already been diagnosed with lupus as a child, so my doctors immediately investigated that possibility. At first, it seemed that I wasn’t in a lupus flare and didn’t exhibit major lupus symptoms, so my ITP was considered primary. That was the case until the fall of 2020.
Yet another diagnosis
That year, during the height of the COVID-19 pandemic, I was working in education when my school closed, like many others around the world. My oldest child was hospitalized with COVID-19, while my youngest and I remained asymptomatic. However, as my oldest child recovered, I began to decline over the following months.
After returning to work, I eventually found myself in the emergency room at the hospital, feeling the sickest I’d ever been in my life. I was weak, exhausted, in a lot of pain, and covered in bruises. Was this an ITP flare, I wondered? I had significant back pain and no appetite, which raised concerns about potential complications of lupus, such as lupus nephritis, which causes kidney damage. However, after undergoing blood work and numerous tests, it became clear that something else was wrong.
I was actively in an ITP flare, with my platelet count plummeting so low that my medical team was in shock. They said that, had I been injured, I could’ve bled to death in no time.
But there was more: Not only was I losing platelets faster than my body could produce them, but I was also losing red blood cells at an alarming rate. Several of my internal organs were being damaged by tiny blood clots, including my kidneys, liver, and uterus. This wasn’t just an ITP flare.
After weeks in the intensive care unit, I received my next diagnosis: atypical hemolytic uremic syndrome (aHUS). This became my primary and deadliest disease. aHUS has caused numerous complications and comorbidities, including organ damage that led to months of dialysis, hypertrophic cardiomyopathy from my heart overcompensating due to my thin blood, end-stage renal failure with its associated complications, uncontrolled hypertension, edema, and even plasma destruction.
Between ITP, aHUS, and thrombotic thrombocytopenic purpura, every element of my blood production was being compromised. Ultimately, this led to aHUS being classified as my primary disease, while ITP was “downgraded” to a secondary disease. Did I have aHUS all along, but it went undiagnosed? It’s hard to say. I’ve had a few scares with aHUS flares over the past five years, but it has become quite rare for me to experience an ITP flare now.
I have lab work done every 14 days due to the permanent kidney damage I sustained and the genetic risk of another aHUS relapse. I’m also treated with Soliris (eculizumab) infusions for aHUS. Even though this drug is not used to treat ITP, it suppresses my immune system, which appears to reduce my risk of ITP flares. It’s reassuring that I can check my platelet count during each lab visit to monitor for ITP flares. Regardless of its classification as a secondary disease, it remains a part of my daily life.
Note: Bleeding Disorders News is strictly a news and information website about the syndrome. 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 other 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 Bleeding Disorders News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to bleeding disorders.
