“Anne” is a mother I met in my fieldwork who was happy to share her story, but not her name.
Her son had become sick very suddenly, complaining of a combination of symptoms that were difficult to pinpoint. Anne took him from one specialist to another, who performed test after test, but they could find no clear diagnosis. Clinicians began to imply that her son’s issues might be in his head, quietly asking Anne if he might just be depressed. They seemed to be giving up on his case, but she refused to stop looking for clues.
An acquaintance’s son had similar symptoms – lightheadedness and a rapid heartbeat when he went from lying down to standing up. That child’s diagnosis was postural orthostatic tachycardia syndrome or POTS. Anne researched POTS online and found an article written by a leading doctor in the field that described her son’s symptoms exactly: nausea, diarrhea, a fast heart rate, and extreme fatigue. But even after bringing the article to a reputable cardiologist in her area, Anne was told she was off the mark. For some reason, doctors were not hearing what Anne was trying to say.
Finally, after six more months of online research, Anne found a doctor who could help make the diagnosis she had long suspected. Her son did indeed have POTS, a disorder which affects the regulation of blood pressure.
But Anne did not stop there. She noted her son’s long limbs and flexible joints and had him tested for Marfan syndrome, a rare condition affecting connective tissue that is also characterized by heart valve problems. Her son’s doctors fought her request for the test, but the tests came back positive for a similar condition, Ehlers Danlos III, which accounted for her son’s unusually tall, thin body type and issues related to hypermobility in his joints.
Anne is an example of a Seeker, one of the archetypes I describe in my upcoming book, Rebel Health. She went on the hunt for answers in the medical literature, even when clinicians dismissed her concerns. She is also a Networker, joining conversations online and offline, listening for stories that matched her son’s.
Looking back, Anne recalls, “The medical system is full of specialists who neglect to look at the broader picture. Since diagnosis, I have written a letter to all of the doctors who saw my son along the way in the hope that it would eliminate the frustration and lead to a quicker diagnosis for future sufferers.”
Your turn: Have you been on a diagnostic journey? How did you handle it? What tips do you have for fellow Seekers and Networkers?
Featured image: “What?” by Véronique Debord-Lazaro on Flickr.
Yes yes yes. There might be a connection between EDS (Ehlers-Danlos Syndrome) and POTS. From the superb Dysautonomia International site:
“While researchers are still working to identify the root causes and pathology of POTS, there are several underlying diseases and conditions that are known to cause or be associated with POTS or POTS like symptoms in some patients. This is a partial list:…”
https://www.dysautonomiainternational.org/page.php?ID=30
It fits perfectly with your Rebel Health model that this org was founded by a patient who couldn’t get a dx that worked, Lauren Stiles. Just 11 years old, they’re a phenomenally potent advocacy organization and if I understand correctly, has funded (and thus guided) the majority of dysautonomia research.
I hope Anne’s letters were well received – good for her; in fact I hope they were even *read*, because a common experience in the dysautonomia community is docs who don’t understand *systemic* conditions, because they were trained on one isolated part of the system. The great irony is when a doc seems to say (as one patient put it), “If your symptom’s not in my book, it must be in your head.”
Check the “doctor finder” map at top of the site – “Be counted. Get connected. Find a doctor.” Useful!
Here’s to Anne!
Thanks for the link & the insights, Dave!
That’s an immortal turn of phrase: If your symptom is not in my book, it must be in your head. Where did you see or hear it? I’d love to give credit when I use it.
Self-advocating is so important in healthcare. Doctors do their best, but can’t possibly know about every problem or diagnose them correctly. You have to be in control of your health decisions. Work with your doctor, get their guidance, but you have to be proactive and educated. I am the founder of a healthcare company that empowers people to get in control of their health by making clinical genetic testing more accessible. I have heard COUNTLESS stories of people saying “my doctor said I didn’t need genetic testing, then I got cancer and found out it could have been avoided or caught early with a genetic test.” No one cares more about your health than you.
Interesting story and comments. I am a general internist who practiced both office and hospital medicine for over 30 years. Your story about Anne brings several thoughts to my mind. Although I do not know the nature of the progression of physicians that this young man was taken to, I did note that he was taken to a series of “specialists.” Specialists are generally wonderful in their area of specialization, but also can be myopic. The expression, “When one is a hammer, everything begins to look like a nail.” is often apt. In situations like this, working regularly with a “generalist” can sometimes help people navigate the complixities of our healthcare system. That is not to say that a generalist would have figured out the correct diagnoses, but they are often better at looking at the whole situation and providing guidance that may ultimately lead to a faster and more satisfying resolution.
Another thing that doctors are trained either implicitly or explicity is that “common illnesses occur commonly.” Put another way, “If you put your ear to the ground and hear hoof beats, it is much more likely to be a horse on the way than a zebra!” Doctors sometimes refer to the uncommon illnesses as “zebras.” But when the common stuff isn’t panning out, it can certainly be a mistake to quickly dismiss symptoms as being in one’s “head.” Of course, there are many symptoms which can be attributed to psychological illness. It’s just always important to keep an open mind, even when psychological illness is suspected.
P.S. I currently work for Zynx Health and note that you will be giving the keynote address at our All-Company Meeting in December. I look forward to meeting you!
Dr. Stepanksy- would love to see more GPs like you!