Complex Patient Presents with……
My crazy journey began in childhood unbeknownst to me as more than frequent childhood illnesses. Autoinflammatory diseases and genetically-driven immune disorders were not common knowledge in my childhood. The older I got the more infections and overall symptoms I presented with, but without the access to the experts who understood autoinflammation, my true diagnosis was not known until much later.
However, in late 2012-early 2013 while at work, I developed what was thought to be a severe case of the flu or pneumonia. I spiked a fever of over 105 with pneumonia like symptoms, systemic inflammation, joint pain, and malaise. I went from a relatively healthy 30-something year-old to feeling like an 80 year-old woman overnight. As the days went on, I got worse. It was the first time I heard the words “ground glass” in my lungs from inflammation and bilateral infiltrates due to pneumonia.
My symptoms progressed and worsened over next 5 years becoming more systemic. The respiratory infections became more frequent and progressing to pneumonia. I developed cytokine storms in response to the infections known as Systemic Inflammatory Response Syndrome (SIRS) and Macrophage Activation Syndrome (MAS). Does this sound familiar with COVID-19 patients? Well, it is! SIRS often has to be distinguished from Sepsis as they look similar. I had constant infections and inflammation, fevers, cardiac issues, vascular swelling, mysterious rashes and swollen lymph nodes that landed me in the ER and later more hospital admissions.
I never had the salmon colored rashes the Still’s Yamaguchi diagnostic textbook criteria indicated I should have for AOSD/SJIA. I had petechial rashes that looked similar to sepsis rashes. We now know these rashes are often early sub-clinical signs of SIRS/MAS. The facial malar “butterfly” rash often seen in Lupus was there from the beginning and often now an early tell of an approaching flare. However with autoinflammatory, rashes come with burning and itching which is driven by macrophage and neutrophil activity. Still’s patients can also be afebrile but feel like their skin and body is on fire, with rashes or actually have fevers multiple times a day.
I eventually had a bone marrow biopsy to rule out HLH. Atypical Castleman’s Lymphoma was also on the table as a diagnosis. My sIL-2a was measured recently, but only after treatment, thus it was within normal levels and considered responsive to therapy for my rare T cell mutation. My IL-18 was also measured recently which proved elevated while on therapy, but I am hopeful when commercially available, I will be a candidate for IL-18 inhibitor therapy.
My ferritin was never really elevated (until more recently with cytokine storm episodes). Every rheumatologist for years dismissed Still’s without elevated ferritin. However, many adults never achieve elevated ferritin with Still’s. Rheumatologists were also looking for autoimmune (autoantibodies) versus considering autoinflammatory, let alone considering genetic testing for something underlying driving everything. It only took one larger MAS event post viral infection to knock that preconception out of the book as my MAS markers were all very elevated. Chronic inflammation has also led to recurrent IJS blood clots (clots in my neck) and multisystem involvement.
I was “punted” around specialists for years, especially if one “spooked” at the complexity of my case. I began to feel like the last kid picked for kickball at recess. Despite being an outspoken advocate for myself as a clinician, I was not heard, or told my symptoms were in my head, or the common female dumping syndromes of either fibromyalgia or chronic fatigue syndrome (CFS). One provider early on told me “well darlin’ you have something severe going on but we will either figure this out soon or upon your autopsy.” This was the day I took full control of my care and chose who was on my care team.
In December of 2018, I met my Dr. House. Together, we practiced shared medicine with patient-centered collaboration. My ultra-rare phenotype of Still’s was discovered to be driven by an ultra-orphan variant of a T-cell immunodeficiency as part of a CTLA4 mutation. I assisted in curating my own global collaborative team of both pediatric and adult experts to dig deeper into the research behind this unknown Tcell (CTLA4) variant.
My phenotype of Still’s has proven refractory to most frontline therapies due to this CTLA4 complication of being severely immunocompromised. We continue to search for best therapies with my new rheumatologist as my former retired. Both my new rheumatologist and my immunologist of several years are brilliant, compassionate and driven to assist in anyway they can and trust my judgment as a partner in my care.
If I could offer advice to both patients and providers, please keep in mind not all rare patients will present the same. Patients with very rare presentations within rare diseases often feel like that one lonely stripe not aligning with the rest of the stripes of a zebra. Even though we fight with the rest of rare and complex cases, when we are so rare within the rare ecosystem, we often become lost to a system not built to treat us.
The confounding variables behind poor complex care in the US are multifold with both systemic and individual factors and barriers. There are too many to discuss here, but as a healthcare provider (HCP) myself, I will say my fellow HCPs are doing their best in a system dictated by insurance companies. No one can practice medicine in 10-15 minutes.
However, pediatric experts often have the tenure and experience with more rare genetic diseases driving other diseases. Thus, we need our pediatric experts to communicate more and train their adult specialty peers. We need more med-peds residency graduates to practice spectrum medicine from pediatric to adult. We need to implement more fellowship training in rare and complex disease with increased adult complex care models mirroring successful pediatric models.
Lastly, every patient should be in control of their own medical history and records. No person, even providers, should know more about your records than you. Organize and track your medical history (labs etc.). Be prepared for your provider visits like that of an interview. Be a partner in your care!