When My Doctor Wouldn't Help During My Rare Disease Crisis, My Nurse Stepped Up

On this Rare Disease Day, I want people to know rare warriors like me must bear the debilitation of rare disease every day. I never escape it. My husband of 19 years never escapes it. We battle through progressive, intractable acute pain, seizing, bone fractures, and muscular rigidity due to a vehement form of stiff person syndrome, as it is being labeled by specialists for the moment. While we’ve endured so many misdiagnoses, the most dangerous, inescapable, exhausting hurdle has been the indifference and dismissal from physicians no matter how devotedly we fight for my medical treatment. 

The distance and coldness I have experienced translates into no medical attention and endless struggling as my rare disease further deteriorates, because specialists do not want to engage the complexities of rare disease. They do not even want to conduct a quick online search or believe my medical records and my previous specialists’ discoveries. They could ease our struggle with the continuation of my prescriptions that help somewhat. No doctor seems to want to touch rare cases like mine, so much so I not only have to fight for medical care, but I have to convince myself not to give up every day. I am not alone. Patients who persist through the grip of rare disease go through this living hell as a regular part of life. If we are lucky, we have the fierce love and care of people who advocate with us.

When I developed blood blisters and on my hands several months into my plasma infusions, and after two and a half hours of calling every wing of the typically far away medical system treating me, I could not get my specialist on the phone. Operators and nurses even  refused to page my specialist in spite of the urgency.

My in-home infusion nurse stayed with me. She refused to leave me. She knew just from looking at my blood blisters, the blood blisters I photographed and emailed to my specialist and his medical team, that I was presenting signs of potentially fatal hemolytic anemia, a rare but frequent enough adverse reaction to my infusions. She had to halt infusions because of it, and she was not going to wait for my specialist’s permission to do so. She cared more about my life, my health, and safety, than having to be a doctor who needed to be right about everything. She reported to her own boss, as well as the infusion pharmacist, her colleague, who all confirmed she was and had to do the right thing. They all insisted my specialist was the prescriber and, therefore, the doctor responsible for my care. He was supposed to address it.

Both my infusion nurse, who would not leave my side for hours, and her supervisor were appalled my specialist would not get back to me, and no one at the medical system would offer any way to expedite help even though my infusion nurse and her team were waiting with me the entire time. They not only disrespected them, they disrespected me, their very sick, rare disease patient in a dangerous situation only the specialist could address. Luckily, between my nurse and I, we knew enough to attend to the situation at hand. She instructed to rest, no stress allowed. My specialist emailed me in the middle of the night, so the first thing I woke up to were his emails blaming me for his own system’s breakdown of communication and for my body’s “lack of tolerance level” for a known, risky but available treatment. That was the extent of his response when I was in the midst of emergency. Needless to say, I no longer have care or treatment from a specialist since only a few exist in the U.S. Nothing says we require rare disease research and the sharing of that research with clinicians more than that experience.

Despite his diatribe, my infusion nursing team knew better. I knew better. My husband, who works for a medical and rare disease research facility and also just knows when something is not OK with me, knew better. My infusion nurse had even pulled out the warning labels from the plasma bottles, which described hemolytic anemia as I was experiencing it, as an adverse reaction to this treatment. My doctor and his back-up nurse both argued that what I was enduring was not possible and not a side effect of my infusions — when I, and it seemed, everyone else, including the manufacturer knew it was for sure. I made certain they knew this fact right off of the medication warning label and even from Google. Specialists, your obsession with “having to be right” in the face of your rare disease patients’ safety and suffering is downright cruel. We need you to be our advocates, not our insistent obstacles to our desperately needed medical care.

My nurse case manager now works with me to guarantee timely medical attention from  a new PCP. We are all hoping that he will understand my dire need for rare disease care when I see him for the first time, and am launched into another round of searching for a semi-knowledgeable specialist again once more in 22 years, and more precisely, since my birth. This nurse already has remedied several obstacles that popped up in obtaining a timely medical appointment for me. She has rare disease running through her family and has undergone fighting for her child, so she is a dedicated advocate for me. I am so lucky she is here for me. I am so lucky to have had a fiercely devoted infusion nurse who refused to abandon me even when my specialist did. I am so lucky my husband gives me unconditional true love and never gives up on finding my medical help with me. 

Many rare disease patients do not have this kind of life-saving support. Some are neglected, forgotten, brushed aside by doctors, family, and friends. This cruelty is unacceptable and we need days like Rare Disease Awareness Day to let people know what the rare fight is all about, how they can help if they just care, and how they can help us advocate and fund often non-existent rare disease research by just clicking a button, signing a petition, and by directly helping the adults and children who endure rare disease as long as our bodies allow. It takes someone actually caring for another, in order for care to be provided. Be that someone on this Rare Disease Awareness Day and every day! 

Yes, the rare disease community works hard to manifest rare medical research, and that reality also depends on anyone who cares about us, who recognizes this struggle could easily be their own. Empathy and compassion from others has kept hope alive in me. Every tenacious rare disease warrior patient needs this kind of unwavering concern in order to fuel the reality of rare disease treatments and cures. You — yes, you — reading this piece can do something that leads to help for rare patients, even if it is helping one rare warrior you know or befriend. Donating to fund rare disease research can potentially help with the creation of effective, obtainable medication, treatments, diagnostics, and even cures for all who face down rare debilitation every day and fight to live fully in the uncertainty of rare disease.

Remember Rare Disease Day is every day for us. Together, we can eradicate that truth and realize relief and healing for all who bear the enormity of living with rare disease.

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Getty Images photo via Choreograph