Tales from a Diagnostic Odyssey: Insights from a personal journey
The medical textbook, Improving Diagnosis in Health Care, states that “When a diagnosis is accurate and made in a timely manner, a patient has the best opportunity for a positive health outcome because clinical decision making will be tailored to a correct understanding of the patient's health problem” (1). Essentially, if a patient is diagnosed with a condition in a timely manner, they will have the best shot at a positive outcome because their healthcare team should be able to correctly treat and manage said diagnosis.
But is this always the case?
Oftentimes, it is the opposite.
Journey to Initial Diagnoses
Rochelle is a mom of 2 boys and has been married to her husband for 24 years. She managed an OBGYN office for 17 years, and would still be there if she didn’t get sick. In 2007, she received a diagnosis for Multiple Sclerosis (MS). Before this shocking diagnosis, Rochelle was diagnosed with Rheumatoid Arthritis (RA). She was able to continue working while managing these conditions, and felt she had her health under relative control.
Until 2017. Rochelle was at a convention for firemen with her husband when she suddenly felt desperately ill. She was flown to the hospital where she was diagnosed with pneumonia and ARDS, among other acute diagnoses. After a multiple week stay due to an inability to drain fluid from her lungs, Rochelle was finally able to go home to her family where she would be able to recuperate. And then she had a stroke. And then she was diagnosed with Vasculitis.
Understanding New Symptoms
Back in 2007, when Rochelle’s memory started to become fuzzy, she freaked out. She was known for her photographic memory, and ability to remember all of the patients at the clinic she managed. She then started to lose vision in one eye, and experienced a “headache from hell”. She went to the hospital next to the clinic, and was told she had a complex migraine. To confirm this, a neurologist told her to get an MRI, and that is when the MS lesions were spotted.
While Rochelle was getting used to life with her recent diagnosis, she was also managing a new care team. She is lucky to have a good relationship with her primary care practitioner, as well as a trusted rheumatologist. However, she has also been incredibly unlucky and had her symptoms written off as nothing. In one instance, she was told that she had a bowel blockage causing her abdominal pain, and was sent home. The pain didn’t subside, so the very next day she went to the hospital and a different doctor said she was lucky that her bowel didn’t burst. She then had part of her colon removed in a colectomy, and had to utilize a colostomy bag.
While she had the colostomy bag, she had to get regular colonoscopies. Around this time she started to experience a skin condition under her arms, around her chest, and pelvic area. The doctor performing the procedure asked her “Why do you have all of that inflammation down there”. Her skin condition was written off as nothing by the doctor, and she never saw him again. In reality, this condition was a flare episode of her vasculitis.
Managing Multiple Conditions
Having multiple rare conditions is incredibly isolating, especially considering how little information there is available about the day to day management of symptoms. Even five years after her Vasculitis diagnosis, Rochelle still feels very in the dark about what to expect. This is no reflection of Rochelle, but rather the medical system as a whole.
In the United States, a zebra is the official symbol for rare diseases, because a zebra’s stripes are unique to them (2). This is a symbol of uniqueness, a dominant trait of rare disease. Doctors are told that when they hear hoofbeats, they should think of horses, not zebras (3). But what happens when you have your own personal herd of zebras?
For Rochelle, there are a few key components to managing multiple conditions:
Write everything down. She used to write everything in a notebook, and now puts all of her observations into Folia.
Find a doctor who will listen to you. This may take some time, but it is really important to find a doctor who will let you tell your story, and will explain things to you in a way that makes sense. Use this doctor as an anchor in your care, and see what advice they can give you! This doctor does not have to be your PCP, and can instead be any specialist you see on a regular basis.
Searching for the Right Diagnosis
Even though Rochelle has been diagnosed with conditions that perfectly explain the majority of her symptoms, she still is searching for diagnoses to explain a group of symptoms she has been experiencing for the last two years. She knows something is going on, but she can’t yet pinpoint it. She has been shut down by one group of doctors, but is holding out hope that another might be able to help her get the correct testing.
Rochelle’s diagnostic odyssey is now spilling over into its second decade. With time comes experience and knowledge, and she is now more capable of advocating for herself. She knows herself well enough to look for zebras, and uses her resources to help support her on this journey. Armed with her care team, husband, and family, she manages her symptoms, works part time at a school, and is focusing on feeling her best.