Why the Fight for a Diagnosis Matters


Because many with rarely diagnosed and invisible illnesses must go through months to years of appointments and testing to get a diagnosis, I often think about why we fight for one despite the constant obstacles and hurdles. For many illnesses, especially rare and complicated ones, time to diagnosis can take six years or more. It’s an arduous journey for so many of us.

I suddenly got very ill while I was working on a PhD in 2010, and since then much of my life has been spent living on what I call the Hamster Wheel of Diagnosis: make an appointment (which could take months to a year to get), do a test, make another appointment to go over the results, do another test, another appointment, then get shuffled off to another specialist to start the process over.

With fragmented care and limited knowledge about rare conditions, Western medicine is often not well-equipped to deal with patients with complex conditions or co-morbidities. I just keep running on that wheel hoping it will eventually lead to somewhere, to more answers, to a better quality of life. I’ve filled so many vials of blood, had giant needles placed in my body, been tilted on tables, breathed into so many tubes and have been told “it’s all in your head” by so many doctors, I feel like I could start my own medical mystery world tour. Being told “it’s all your head” by medical professionals is a common experience for many with invisible illnesses, especially when you are young and female.

After either being dismissed by so many doctors or told my symptoms were outside of a doctor’s expertise, I was finally diagnosed with POTS (postural orthostatic tachycardia syndrome), a subset of dysautonomia, in 2012. I thought I had finally made it
off the Hamster Wheel. But in early 2013, I started having other mysterious symptoms: difficulty breathing, difficulty walking, weakness, struggling to speak while I was teaching. When I mentioned my walking issue to my doctor’s nurse practitioner, she told me I was imagining it. She actually chuckled as her initial response. I didn’t find it particularly funny. Yet, I internalized her response, and I tried to believe that I was imagining it. But then I couldn’t get around and had to get a cane. Then a walker. Then a wheelchair.

Hey, every 30-something goes through that difficult period of trying to figure out life while losing their mobility, right? Well, maybe not. I wasn’t imagining this.

Eventually my neurologist tested me for myasthenia gravis and I tested positive for it, but
that is only a tentative diagnosis right now. I have endured many tests since then to see if that is my official label. I’m still on the Hamster Wheel of Diagnosis, but in that time I have been waiting for an official diagnosis, I have had to give up my career as a professor, have become home-bound and now have to use a wheelchair when I leave the house. Since diagnosis is often a precursor to treatment, the years spent on the Hamster Wheel can have very real, even devastating consequences.

Stefani at a doctor's appointment
Stefani at a doctor’s appointment

The truth is the drive to give up while seeking a diagnosis is incredibly powerful. The life on the Hamster Wheel is exhausting, expensive and disheartening. It takes an arsenal of hope, determination and rugged stubbornness to fend off that drive to give up.

Over the years, I have often asked myself, why does a diagnosis matter? Why do I keep fighting a battle that never seems to end? It’s important to remind yourself sometimes not just why a diagnosis is important but what you are fighting for. You may be fighting for a better quality of life, for your children, for your family, for your career, for your own sanity. Not many people want to be pigeon-holed and labeled. When you are desperately ill, that label is a like a trophy, engraved with the words “I Was Right!” Some never get a complete diagnosis and must suffer the costs of uncertainty long-term, but many of these patients still search for a label for their suffering. A label of an official diagnosis can matter for many reasons.

Official Recognition and Documentation

Insurance companies and our medical system operate in a black and white world, but there are some of us who live permanently in the grey area in between. There is nothing cut and dry about rare, complex conditions. Yet, a label and diagnosis fit into that tiny square in many medical forms titled “medical conditions” (good luck fitting more than one condition in that square).

Having to list a grab bag of symptoms doesn’t hold much weight in their world. Sometimes a grab bag of symptoms leads doctors or medical professionals to give a patient a psychiatric label such as “depressed” or “anxiety” instead. It’s easier than admitting they don’t know sometimes or investigating further. The irony is that depression and anxiety often are an effect of disabling symptoms met with invalidation, not the cause.

There can be serious ramifications from this invalidation. Misdiagnosed psychiatric labels can be put in patient files, making it difficult for a patient to overcome this invalidation and be taken seriously by doctors. A lack of diagnosis could lead to patients not getting approved for needed tests or treatment options. It could mean a patient cannot get needed accommodations at work. It could impede accessibility to essential services for the chronically ill and disabled. For those who are so disabled that they are unable to go to work or attend school, an official diagnosis could be a life line. This could help them qualify for disability or other types of assistance. For many, a diagnosis is essential for these practical concerns.

Often when you are chronically ill, you will encounter many doctors who do not know your medical history, you will have to fill out stacks of paperwork and you will need to communicate your needs to the medically uninitiated (employers, family members, etc). A diagnosis provides a concise explanation. 

There’s nothing quite like having an entire Wikipedia or Mayo Clinic page dedicated to your rare condition that you can direct them to when you have a diagnosis. The label leads to vital information and resources. It provides you with a prognosis and information to understand your body. A grab bag of symptoms rarely does. That leads to fruitless Internet searches and typing into Google “why am I falling apart?” A diagnosis can matter.     

Validation

A diagnosis has practical financial, legal and bureaucratic concerns as I mentioned above, but it also assuages the psyche of those who are desperately ill and have been denied proper care and treatment because of misdiagnosis or invalidation.

When I was finally diagnosed with POTS, I wanted to sing in the streets. After being told by so many doctors that I was wrong, I was finally right. When you get a diagnosis, it’s like reading a prequel to your life. The plot holes, disjointed timelines and weird flashbacks of your story start to make sense.  I have learned that sometimes you will still encounter invalidation and continue to have to “prove” you are ill, yet you can wield a clinical diagnosis like a weapon against these forces. You aren’t wrong. A diagnosis can matter. 

Treatment

A diagnosis can lead to treatment options where there were none before. Often with rare or rarely diagnosed conditions, there are no specific treatment options created to treat or cure the disease. Instead, medical professionals use “off-label” treatments, meaning treatments designed for other conditions but may have beneficial side effects for a rare disease. Yet, without a diagnosis or general idea of a patient’s condition, patients may not even have access to “off-label” treatments.  Treatment options can provide hope and can lead to a better quality of life. A diagnosis can matter.

Huffington Post posted an article listing other, innovative avenues for patients with complex conditions to pursue when you are trapped on the Hamster Wheel of Diagnosis.

The Diagnosis Is Not the Endgame

I have come to realize that getting a diagnosis and ultimately managing chronic conditions are a process. Even once a patient manages to get off the Hamster Wheel and finally begins treatment, the process isn’t over. Treatment takes time and often a significant amount of trial and error. Sometimes a patient’s diagnosis can change. It’s important to be patient with the process even after you achieve a diagnosis.

Most importantly, I try to remember that this process and my illnesses do not define me. They are a facet of my identity and life but are not the sum of my experiences. A diagnosis can matter, but do not surrender the ultimate goal, which is the determination to improve your quality of life and embrace that life with your spirit intact despite the challenges of living with rare or rarely diagnosed conditions. 

Editor’s note: This is based on one person’s experiences and should not be taken as medical advice. Consult a doctor or medical professional for any questions or concerns you have.

Follow this journey on Kind of Broken: Lifestyles of the Young, Sick, and Fabulous.

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