Complex patient presents with…A nurse living with rare diseases in a broken system
My crazy journey began in childhood unbeknownst to me as more than frequent childhood illnesses. I now know 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. Other children’s research centers are currently studying my allele variant.
This ultra rare CTLA4 (T cell) deficiency causes frequent and severe infections, among other PIDs. T cell mutations are often the most challenging to treat. They operate rather like a teeter totter, both suppressing your immune system and causing severe systemic inflammation and organ damage. It is challenging for me to fight off routine infections, let alone opportunistic infections.
The chronic infections cause frequent inflammatory cascades of the immune system that damage organs and lead to blood clots, known as macrophage activation syndrome (MAS). Think about the ugly “c” word we all learned during COVID-19, no not that C word but cytokine. Well, cytokine storms are MAS, which occur with infections like COVID-19.
These post-viral immune “mysteries” are not mysterious for those of us who live with them daily. The very rescue medications we use for MAS are the medications patients with COVID-19 were getting early on and still to date. For me, the chronic inflammation/cytokine storms have caused multiple blood clots in my neck.
This rare mutation has also led to an aggressive phenotype of Still’s disease, which being a rare systemic autoinflammatory disease, just adds the inflammatory fuel to the fire. I am also at greater risk for secondary hemophagocytic lymphohistiocytosis (sHLH), which is a potentially rare fatal complication like MAS. HLH attacks your immune system and bone marrow.
My case is very rare, but my story is not. People with rare diseases often go undiagnosed, or misdiagnosed on average of 8 to 10 years. I was born with this inborn error, but genetic testing was not available for me as a child. I went over 10 years misdiagnosed in adulthood as throughout my childhood there was not even the discussion of something “greater” going on other than being unlucky with chronic infections. As an adult, I was told my symptoms were in my head, or related to hormones being a female diagnosed with advanced stage IV endometriosis.
I fought chronic infections and inflammation throughout nursing school and my nursing career. Because my direct patient care experience was more concentrated in pediatrics, I was often told “I was just unlucky and sick due to working with kids.” More recently, I had to give up direct patient care due to being too immunocompromised.
It was my Gyn surgeon who played the first pivotal role in my diagnosis. To date, he has remained one of the foremost advocates for women’s care in general, but also a champion in my advocacy for myself and others. Both of us knew the severity of my endometriosis and surrounding inflammation was not “just” due to endometriosis. We suspected a larger underlying root cause. He called in the cavalry of specialists while hospitalized and helped serve as the priming catalyst to my eventual diagnosis.
Let me back up, early on in my diagnostic journey, I was told my symptoms were psychosomatic. Providers didn’t know what to look for, focusing on routine labs and diagnostics. They didn’t understand the difference between autoinflammatory and autoimmune diseases. If it was not antibody driven, I was not sick. Despite telling them to just run the atypical labs and diagnostics already, I was often ignored. I had family members even telling me it might be related to stress, further marginalizing my symptoms that were clearly not psychosomatic with fevers, rashes, severe infections, etc.
I was even told my diagnosis would be found “upon my autopsy” by a PCP. Let’s all be thankful he has since retired. I asked for my copay back that day. I have jokingly asked for it back throughout my journey to diagnosis as I watched providers google diagnostic criteria in front me. I would say “for the love of…” at least use “UpToDate” rather than Google!
Even today, because my diagnoses are so rare, I am told by providers “oh so you just have an autoimmune disease like RA.” As infuriating as it is to have to explain that I don’t have RA, I know the provider knowledge gap is due to a lack of education and experience with innate immune disorders. Keep in mind, autoinflammation is rather new to the medical world. It really is not the provider’s fault. Also keep in mind, RA is not a simple disease of arthritis either, but a disease that attacks the body’s immune system. I often correct providers who say “just RA” as not to minimize those who suffer from RA.
The most defining experience I had as both a nurse and a patient desperately seeking a diagnosis was with yet another PCP very early on. He sat across from me, rolling his chair closer to me, put his hand on my shoulder (in an ill-attempt to show empathy), only to show me some routine labs, failing to run more specialized labs he promised. He leaned in (clearly right after his onion-saturated lunch), to tell me to look at my labs.
Then, he said it….”Now, being a nurse, with these labs, what would you tell your patients?” I responded with “I think I know where you are going with this and I don’t like it.” He leaned in closer as I leaned back to avoid the overwhelming remnants of his lunch, and he said “Would you not tell them this was in their head?” I responded with “No, I would tell them to get a better provider who wants to find the answers and doesn’t tell a woman it is in her head!”
This provider committed the cardinal sin of practicing medicine with the mental model of multiple cognitive biases, not only gender, but anchoring. He had assumed early on I just had the flu. He was wrong and at least ran imaging to find I had pneumonia with ground glass scarring on my lungs (an early puzzle piece missed).
Now, some of the best providers are not experts, but those who are willing and wanting to spend the time to fight for patients with rare and complex diseases. I am privileged that my updated journey includes not only the correct rare diagnoses, but a group of providers who care and have provided me with a medical home. Despite being published with some providers who are experts, being an adult, I can’t officially be on their pediatric service, or of the few adult autoinflammatory centers of excellence, some find me too rare and complex as well.
Thus, even as a nurse who knows her own baseline, disease phenotype, and can navigate the toughest of fragmented healthcare systems, I am not immune to the inequity in adult complex/rare disease care. To date, I can be “punted” around some specialists. Consequently, critical care has been delayed at times. I equate it to a game of baseball and “who’s on third?” regarding who will prescribe or admit me when needed.
Most adult specialists who treat rare disorders like mine have not been allowed the time to train in the specialty. They are community-based, and/or don’t have access to their pediatric peers who are often experts. Many are individual providers without peer access at all. They are human beings and don’t want to do anything wrong AND they may have one nurse if even that, who would be responsible for all the complex care navigation. This includes submitting specialty medications and interfacing with the patient more frequently.
We must also consider the pandemic and increased burnout, staffing shortages, and unsafe nursing-to-patient ratios, which all directly affect complex care. In addition, tenured staff attrition and the inability to treat patients with complex care has only increased. These are just some of the root causes of inequity of care in adult complex care.
Frankly, providers were exhausted before the pandemic with patient care demands. Treating patients with complex care needs requiring more resources post-pandemic, has been the straw that breaks the camel’s back. It’s the age old “it’s not you, it’s me” scenario for rejection of care for adult patients with rare and complex care needs.
I am fortunate that some of the top autoinflammatory/immune-mediated experts do consult on my case, but that has become very limited. I know some of them due to my professional collaborations, speaking engagements, and publications with them. However, being over the age of 21, I cannot be officially on their service.
Years ago, I spent months putting my medical records together, trending labs, and creating timelines. I sent this off to a top expert in NY. After months of me basically stalking his office, he accepted my case and did the one thing others did not, he ordered genetic testing. Two months later, we had our driving root cause of my rare diseases. Being in NY, he consulted remotely initially, but then handed my case off to pediatric consultants and my local care team.
Since then, I have curated my local team who created a group text as a collaborative care approach. They don’t always communicate perfectly, but it is the closest thing to an academic comprehensive care center. When needed, they do consult with other national experts. I am very thankful to all of them as they go above and beyond for me. Some have been fighting for a diagnosis and better care for me for over 10 years.
My hem/onc provider has long operated as my PCP as my former PCP, like many, deemed my case too complex for her scope. She refused to even run routine labs within her scope. This happens all the time to adult patients with rare and complex needs. I am still looking for a new PCP.
My hem/onc joked once that she is like my “fairy godmother,” and at times, I would concur. My current rheumatologist is unmatched. He is my 7th rheum in my journey. I have been with him for almost 2 years. Not only is he brilliant and kind, but he understands his patients’ battles personally. He is highly desired by patients with rare and complex autoinflammatory and other immune-mediated conditions nationally.
Although I never planned to remain in Texas this long, my core medical team is here. People often don’t understand that people like myself can’t just up and move. I have worked hard to procure my medical home here, and thus I am quite tied here until or if another comprehensive team accepts my case. However, I am quite reserved to leave my rheum. I am not sure there is someone better!
Don’t get me wrong, at times, it still feels as though I am that child alone on the playground no one wants to pick for their team. When I am punted around and no one wants to treat me or see me, it brings me back to a playground where I am holding the ball while others play around me. If my core team is gone, their colleagues (peers), often won’t or can’t treat me due to the complexity. This care gap in their absence is still an ongoing battle.
Today, I have my diagnoses, but on top of my full-time job is also being a full-time patient with rare diseases. Most recently, I had to fight nearly 4 months to procure live-saving medications needed as my insurance had switched with a new job. Despite being on some of these medications for many years, every appeal was denied for obtuse reasons. I come from over 20 years in pharma leadership roles, including nursing education, advocacy, and market access, thus I knew exactly what was going on. However, I could not get anyone in leadership with the pharmacy benefit manager (PBM) to understand.
Ultimately, I had to risk my personal health information with my employer and be that employee going to HR advocating for my medications. I am lucky after many months, my company went to bat for me and procured a top medical director with the insurance to connect with my provider. I got what I needed approved. However, I am still fighting to procure others on a daily basis and feel exposed within my company after that experience.
I don’t want others to go through what I have. Unfortunately, I know every day people are fighting the same battles to some extent. I want to help other patients and families with rare diseases navigate a healthcare system never created for them. It is why I have collaborated with experts and organizations for national rare disease educational and advocacy programs, sit on advisory boards, speak globally, been published, and worked with a pharmaceutical company to get a medication approved for those of us with Still’s! I help other patients and providers procure specialty medications and navigate market access nuances to expedite the process. No patient should wait for life-saving medication or a correct diagnosis!
Lastly, my advice to both patients and providers, please keep in mind not all patients with rare diseases will present the same. Patients with ultra rare diseases often feel like that one lonely zebra stripe not aligning with rest. We are so rare within the rare ecosystem, we become lost to a system not built to treat us. As a nurse, I have an ocean of resources, but keep in mind these families and patients live on an island. When treating these patients and families, visit that island with them (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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