With multiple medical conditions, I’m winning the wrong kind of lottery
An aHUS diagnosis often doesn't come alone, a columnist finds
“Go big or go home” has always been my philosophy. But I never planned on applying that motto to my health. One could say I definitely won the lottery no one wants to win when it comes to rare diseases and complications.
To start, I’ve been living with lupus for about 21 years, though I wasn’t diagnosed until 2006. This autoimmune disease causes me fatigue and affects my skin and joints the most.
Then, in September 2020, I almost died from atypical hemolytic uremic syndrome (aHUS). It damaged my blood, kidneys, heart, liver, and uterus. And I’ll need to do chemotherapy infusions and closely monitor my bloodwork for the rest of my life.
I also have a rare mutation tied to aHUS: the THBD (thrombomodulin) gene mutation. The disease occurs in the U.S. at a rate of 1 per 500,000 people. But my specific mutation occurs in only 3% of that 1 in 500,000.
During my journey, I’ve done dialysis, plasmapheresis, blood transfusions, immunizations, chemotherapy infusions, constant bloodwork, and biopsies. Each process comes with side effects.
This has been a huge life adjustment. While in intensive care for almost two months, I Googled every bit of information I could find about the disease. I also joined two aHUS Facebook support groups and reached out to as many people as I could.
Many fellow patients and their posts prepared me for what to expect with aHUS. But what I wasn’t prepared for is all of the other issues that can come along with this rare disease. My nephrologist once said, “These rare and/or autoimmune diseases typically come in pairs or threes.”
And boy, was he right. This disease has caused so many other problems for me: May-Thurner syndrome, end-stage renal failure, stage 4 kidney disease, hypertension, hypertrophic cardiomyopathy (or a thickening heart), pancreatitis, severe menstrual bleeding due to adenomyosis (and a subsequent hysterectomy), a liver hematoma that filled nearly half of my torso, degenerative disk disease, chronic fatigue syndrome, osteoarthritis, and nerve damage that’s caused me to lose the use of two toes.
I have a list of ailments longer than my résumé now. And I’ve noticed a trend in the Facebook support groups: Many people with aHUS are being diagnosed with other diseases, including arthritis, chronic pain syndrome, rheumatoid arthritis, and Raynaud’s syndrome. It appears aHUS often doesn’t come alone, which can make each doctor appointment a new adventure.
This journey has kept me on my toes. While I obviously hate being sick, it’s been an amazing experience to take deep dives into the medical world. I’ve met so many people and made so many connections while sharing my experience. Hopefully, I’ve been able to help other patients and caregivers prepare and not feel so alone.
Do you have medical conditions that have come with your aHUS? Please share in the comments below.
Note: aHUS News 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 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 aHUS News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to aHUS.
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