Making Hope When the Medical System Can't (Part 2)

Autonomic disorders, like POTS (Postural Orthostatic Tachycardia Syndrome, sometimes called simply Postural Tachycardia Syndrome) and Neurocardiogenic Syncope involve body systems that are supposed to work automatically -- controlling your heartbeat, blood pressure, breathing, thinking, temperature, digestion, vision and more -- but don't work as they should. Such conditions affect between 500,000 and 3,000,000 people in the United States. Some of these patients don't look sick, which is why their diseases are considered "invisible," despite the many potentially disabling symptoms that they produce.

previous post identified the challenges of sustaining hope in the face of significantly delayed diagnoses for such patients, some taking more than 20 years to find out the cause of their physiological problems. This post reinforces the concerns about delayed diagnosis and begins to deal with the treatment challenges once a diagnosis has been made.

Treatment by Trial and Error Can Be Frustrating

Currently, autonomic disorders like POTS are treated with an assortment of pharmacological and non-pharmacological measures meant to expand blood volume, constrict blood vessels, and reduce the tachycardia these patients experience.Common treatments include increasing salt and fluid intake, wearing medical compression stockings, exercising, and taking such medications as beta blockers, midodrine, clonidine, fludrocortisone.

Recent research has shown that POTS may prove to be an autoimmune disorder, a hypothesis that might lead to more treatment options. Nonetheless, the longer it takes to get a diagnosis for the real physiological problems, the longer it is before effective trial and error on treatments can begin. This is the source of massive patient frustration.

Val's father, an attorney, is frustrated with the reality that patients face in finding physicians who can help relieve their physical symptoms:

Doctors wear blinders. Even the specialists tend to live in silos, and PCPs are overworked. No matter the reason, it's undeniable that too many people with dysautonomic disorders go undiagnosed.

In the face of such diagnostic realities, Dr. Morwenna Opie-Moran (clinical psychologist and cognitive behavioral therapist based in London and a trustee of the charity PoTS-UK) knows from her own POTS patient experience what it is to face life-changing POTS symptoms and the challenges of missed or misdiagnosis:

I feel strongly that without having had colleagues and resources in the medical field, and especially without my training to manage my mood and anxiety, I would have been in much worse shape, and my recovery would have been more compromised. My search for a diagnosis was unequivocally the bleakest and most challenging 18 months of my life. We need to do better for patients.

Because there are relatively few specialized diagnostic and treatment centers for such disorders, the burden falls on patients to press their cause. Many research their syndrome intently and pass along what they learn to their physicians. The Internet is a powerful tool for broadcasting the availability of clinical trials, sharing news about research and treatment breakthroughs, and providing both patient and caregiver support. In fact, virtual support groups are beginning to become more numerous, offering an invaluable mutual support network.

Hope on the Horizon?

Lauren Stiles, Esq., co-founder and president of Dysautonomia International (a nonprofit organization focused on sharing research and treatment developments with patients), says that research on causes and cures for neurologic dysautonomia conditions and raising awareness within the medical profession are two essential tools for accelerating diagnosis. "Physicians are not taught about POTS in medical school and may not have heard of it. That's why more physician education is needed, to raise recognition of autonomic disorders and stimulate the creation of more specialty centers. At such centers, specialists can collaborate to expedite diagnosis and treatment, restoring the quality of life for thousands of patients whose lives are currently severely compromised."

Dr. Satish R. Raj M.D., MSCI, FACC is a clinician, researcher, and associate professor of cardiovascular sciences at the University of Calgary and an adjunct associate professor of medicine and pharmacology at Vanderbilt University. He is one of the world's experts in the research and clinical aspects of autonomic disorders. He engages in physician education for multiple organizations including the American Autonomic Society (an organization of physician specialists). He explains why PCP education is crucial to future progress:

At our center, we focus almost exclusively on autonomic disorders, so we see it every day; autonomic disorders are far less common for individual PCPs than many other chronic conditions like diabetes. We need to help them recognize POTS sooner, so they can make more rapid referrals for diagnosis and appropriate treatment.

Dr. Opie-Moran has been fortunate in that her own POTS has responded to treatment (in her case identifying and treating an autoimmune condition, Sjögren's syndrome, which was causing her autonomic symptoms). Yet she recognizes that many others' still lack workable treatment regimens. While acknowledging that there is no silver bullet for diagnosing or healing patients who are living with autonomic disorders, she also contends that great progress is being made:

  • In research, to find the causes of these disorders, why they present differently in different patients, and what treatments may work best for which patients.
  • In educating patients, caregivers, the medical community, and the general public to recognize this invisible disease and the support that patients require.

In addition to medical treatments, some POTS patients like Val benefit from cognitive behavioral therapy, where they can learn skills for coping with the day-to-day unpredictability of their physical symptoms. Dr. Opie-Moran says that such counseling can help patients and their caregivers to learn to be less overwhelmed by symptoms that used to feel life-threatening:

This is not a lost cause, but a neglected one internationally. As public understanding of invisible diseases grows, I hope that patients will feel more inclined to seek out help in adjusting to the unpredictability of chronic illness, actively managing their energy levels, learning to ask for help, and focusing on preserving those activities and relationships that help them feel most positive and fulfilled. As more of us spread the word about these disorders and seek a better deal for those affected, those still fighting through the diagnostic process can have more hope for a better, healthier, and happier future.