Shalla’s story

Complex Patient Presents with……

My crazy journey began in childhood unbeknownst to me as more than frequent childhood illnesses. I was born with a genetic mutation that is classified as an ultra rare primary immunodeficiency (PID). The PID is a CTLA4 (T-cell) deficiency. More specifically, it is called CTLA4 haploinsufficiency. My particular allele variant was studied in Germany and to date has not been seen in other case studies.

This ultra rare CTLA4 (T cell) deficiency causes frequent and severe infections. It also suppresses my immune system so much causing the inability for me to fight off routine infections, let alone opportunistic infections. It also causes frequent inflammatory cascades of the immune system called cytokine storms. T cell mutations are quite complex and extremely aggressive.

Furthermore, other PID’s accompany this mutation known as Specific IgA deficiency, specific antibody disorder (SAD), and hypogammaglobinemia (low IgG). I require permanent immunoglobulin replacement therapy (either IVIG or SCIG), a specific T cell inhibitor biologic that also boosts my antibody levels (IG levels) and suppresses other inflammatory markers, such as IL-2a.

This rare mutation has led to a rare aggressive phenotype of Still’s disease (not that any type of Still’s is common). My phenotype is more consistent with the pediatric SJIA, with elevation in IL-1, IL-18. I also have macrophage activation syndrome (MAS), systemic inflammatory response syndrome (SIRS), and at risk for secondary HLH (sHLH). The cytokine storms (MAS/SIRS)/chronic inflammation have caused multiple blood clots in my neck as well. Stills has affected many organ systems too.

My case is very rare, but my story is not. People with rare diseases often go undiagnosed, or misdiagnosed for years. I went over 8 years misdiagnosed and told my symptoms were in my head, or as a woman, it was psychosomatic etc.

Even as a nurse who knows when something is wrong, had and continue to have multiple speaking engagements, publications, and a dedicated patient advocate for others, I am not immune to the inequity in rare/complex adult care. I am often “punted” around specialists and told “go to Dr. X for that”, that Dr. X says “go to Dr. Y” for that, blown off by primary care as too complex, told by other specialists my case is too complex and too time consuming for their practice etc. Even the top experts in my diseases, who are pediatric will not accept my case as an adult as “I was not diagnosed as a child” so punitively I am denied because the genetic knowledge was not around in my childhood and top adult experts find my case too rare for them, aka, too time consuming. It feels as though I am that child alone on the playground no one wants to pick for their team.

Most recently, I was told by my main specialist that I only “was allowed 2 messages” a week despite any issue as he was just too busy, despite being 3 hours away from him, told to communicate via portal directly with him knowing how complex and ill I can get (at the time an active severe infection as well). I had been “handled” and silenced. The typical burnout provider reactionary response today in medicine. Post-COVID, it has only worsened.

Despite attempting every advocacy effort in my arsenal to fight to stay out of the hospital, I am often punted around or ignored and told to go to the ER. In the ER, I am just susceptible to more opportunistic infections and gain spooked looks of the ER staff who have no clue where to start or what to do. I am not part of my care plan despite having more knowledge of my rare diseases. There is little to no dignity left for patients like me. THIS is what patients with rare and complex diseases experience in our healthcare system today.

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 become lost to a system not built to treat us.

Don’t be afraid to know your disease like an expert. Be a partner in your care and by all means, be your own advocate!

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