Personal Testimony: My Dysautonomia Diagnosis
Dysautonomia Defined: Medical conditions where the body develops abnormal responses to typically automatic functions that are performed by the Autonomic Nervous System (ANS). This can include the regulation of heart rate, blood pressure, temperature, digestion, respiration, bladder and bowel function, and more.
The following blog post is a personal testimony of one person’s experience with their dysautonomia diagnosis. Any medical concerns should be directed to a health care provider or other professional medical treatment center. Professional medical advice should not be disregarded or delayed based on the testimony described on this blog, website, or any associated materials.
What led to my diagnosis with dysautonomia?: Ten years, over 100 vials of blood, two Holter monitors, two sleep studies, two MRIs of the brain, two colonoscopies, a barium swallow, two neurologists, a migraine specialist, sinus surgery, four GI doctors, three physical therapists, two primary care physicians, three allergists, a cardiologist, and finally, an electrophysiologist and a tilt table test are what it took to get my dysautonomia diagnosis at age 25. Cumulatively, I began my adulthood with over $10,000 of medical debt, which was including the insurances I maintained and excluding the many drugs that I had to forgo due to costs.
Although I had sinus and GI problems my whole life, I began noticing progressive spells of dizziness, palpitations, lightheadedness, fatigue, migraines, and excessive thirst as young as 12 years old. My primary care doctor often listened to me for 15 minutes or less, prescribed me a drug, took my blood, and maybe referred me to a specialist.
Ultimately, throughout high school the best they could do is say I had a case of hypothyroidism, IBS, and depression/anxiety. Although I was in honors classes and worked hard to keep from getting behind, I was constantly shamed and scolded for how often I missed school. I remember in my junior year of high school I had decided to push myself to go to school late at 11am, rather than missing the whole day, after struggling with a migraine all morning. As I checked in at the attendance office, the middle-aged woman that worked the attendance desk and knew nothing about me besides the faxes she received from my physician, rolled her eyes and said
“When are you going to stop it with this headache nonsense and just grow up and come to school?”
Throughout my undergraduate college experience, I continued to have worsening GI symptoms, which had increased in severity beyond my “normal” chronic constipation to also include chronic nausea, vomiting, food sensitivities, and pain in my GI system from the base of my esophagus down to the end of the tunnel. While I had pretty much accepted that I'd never have a healthy gut, the dizziness, lightheadedness, and shortness of breath accompanied by chest pain was a source of worry. Because I was already diagnosed with PTSD, OCD, and depression, it took me completing three years of talk therapy and a PTSD treatment clinical trial run by the hospital I was receiving care at before I felt that physicians sincerely believed me when I told them that the episodes of palpitations and dizziness had nothing to do with any emotional reaction.
Having an invisible illness often leads many people questioning how you can have “perfect” bloodwork and labs that do not explain the debilitating symptoms described. By 2018, I had gotten fed up with my primary care physician’s mantra of listening for 15 minutes, taking my blood, and telling me I was fine. I had been returning to my OB/GYN for my relentless fatigue and chronic pain when she referred me to her husband, a primary care physician. I immediately saw the difference my new physician’s commitment to thorough holistic healthcare could make and it was the first time I’d spent longer than 15 minutes in a room with my primary care physician.
My new primary care physician reviewed each system of my body, tracking the symptoms I was experiencing as a whole. The episodes of palpitations, dizziness, and lightheadedness combined with my history of sleep apnea, chronic constipation, restless leg syndrome, and irregular sweating indicated to my doctor that I needed to see a cardiologist who specializes in the electrical patterns in the heart, called an electrophysiologist. The likely culprit of my symptoms was a form of dysautonomia, which was something I had heard of, but began to research more in depth prior to my appointment with the electrophysiologist.
The autonomic nervous system (ANS) is responsible for functions within the body that are generally considered to be automatic. When the ANS isn’t functioning as expected, the entire body is impacted, which often causes symptoms in every major system.
During my visit with the electrophysiologist, we began by doing a basic orthostatic tolerance examination where I had my heart rate and blood pressure taken resting on my back, seated, and subsequently standing. While it was mostly regular, I sat down and waited for the doctor to come in to review my symptoms. As we were discussing my symptoms, I suddenly felt flushed. I apologized and had to stop speaking because I was gagging, I became drenched in sweat and the doctor had me lay on the examination table and took my pulse.
“Well your pulse is not slow...”
He asked me more questions about my nausea, vomiting, and allergy symptoms and mentioned that many of my symptoms overlapped with some of the comorbidities of dysautonomia. He mentioned that while he suspected me of dysautonomia, there may be another associated condition causing some of my symptoms.
Autonomic nerves regulate connective tissue synthesis and repair. Therefore dysfunction of the ANS may play a role in hypermobility diseases, such as Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder, where dysautonomia (particularly Orthostatic Intolerance and its many forms) is commonly observed in the HSD/EDS population. We agreed that the first step would be to investigate my episodes of lightheadedness while hooked up to several heart monitors that would provide a detailed picture of what exactly was happening during my body’s transition from laying flat to standing straight. In short, we scheduled a “Tilt Table Test.”
The test was to take place in the cardiology unit of the hospital, which was eerily located in the basement. I was given a peripheral IV to ensure I could be provided with fluids rapidly if needed, but otherwise, the only preparation was that the nurses placed many stickers on various points of my chest, sides, and back so that they could hook the machine up to read my rhythms.
The table had straps on it to put around my legs and chest to prevent me from falling should I faint (which often happens to patients that have dysautonomia during these positional changes). I tried to relax while strapped to the table, where I’d lay flat for about 15 minutes to achieve my resting heart rate. At rest, I was at a cool 55 beats per minute. They told me they’d begin the tilt and I felt the table tilt me to vertical within just a few seconds and I told myself to just “be normal” so that I wouldn’t accidentally “cheat” the test. Within moments of being tilted upright, I heard the nurse say
“She’s at 150 beats per minute”
They asked how I was doing; I felt weak in the knees, which were shaking, and my vision was faded. I was thankful for the straps keeping me flat against the table as I tried to catch my breath to respond.
“Is this how everyone’s goes? Is this normal?” I knew I sounded absurd, but I couldn’t grasp the words I wanted, let alone get my heartrate to normalize.
“We will talk about it after, but no, it isn’t normal.” the doctor responded.
The test result was “POSITIVE” for dysautonomia, but did not meet the exact qualification for the expected form, Postural Orthostatic Tachycardia Syndrome (POTS), so the electrophysiologist classified my dysautonomia as orthostatic intolerance/irregular tachycardia with a likely reduced blood volume. The treatment for my symptoms include compression garments (stockings, shorts, abdominal binders), dramatic increase in salt/electrolyte intake (up to 10g of salt a day), and increased fluids. While there may be ways to reduce symptoms, there is no cure for dysautonomia and the symptoms can feel unpredictable, because the ANS is unpredictable.
My experience being diagnosed with dysautonomia felt vindicating, but it was ultimately a stepping stone in the process of my medical treatment plan. While the diagnostic journey felt like the longest part of the process, the real odyssey is finding ways to cope with symptoms on a day to day basis.
Including all its forms, dysautonomia impacts an estimated 70,000,000 people worldwide and can have a wide presentation including disabling symptoms. Despite its prevalence, there is a great deal of awareness that needs to be raised regarding the care and management of this often invisible illness.
The following information is provided to educate about the complex presentations of dysautonomia and should not be utilized to guide medical care decisions. Any medical concerns should be directed to a health care provider or other professional medical treatment center. Professional medical advice should not be disregarded or delayed based on the testimony described on this blog, website, or any associated materials.
What is there to know about dysautonomia and its different forms?
At the core, each form of dysautonomia overlaps in that the ANS is not functioning correctly. Each form of dysautonomia has a different presentation, some of which are associated with genetic conditions, comorbidities, or progressive symptoms.
Examples of Dysautonomia Classifications:
Autonomic dysreflexia
Autoimmune Autonomic Ganglionopathy
Baroreflex failure
Cerebral Salt Wasting Syndrome
Diabetic Autonomic Neuropathy
Orthostatic Intolerance
Postural orthostatic tachycardia syndrome (POTS)
Neurocardiogenic Syncope (NCS) / Vasovagal Syncope
Orthostatic Hypertension
Orthostatic Hypotension
Inappropriate Sinus Tachycardia
Familial dysautonomia (FD)
Multiple system atrophy (MSA)
Pure autonomic failure
Panayiotopoulos syndrome
Reflex Sympathetic Dystrophy (Complex Regional Pain Syndrome)*
What are Common Conditions Associated with Dysautonomia?:
Some examples (this is not a comprehensive list) of conditions that are associated with dysautonomia or orthostatic intolerance symptoms include:
Genetic Conditions
Amyloidosis**
Charcot-Marie-Tooth Disease
The Ehlers-Danlos Syndromes
Mitochondrial Disorders
Parkinson’s Disease***
Autoimmune Diseases
Amyloidosis**
Antiphospholipid Syndrome
Autoimmune Autonomic Ganglionopathy
Celiac Disease
Crohn’s Disease/Ulcerative Colitis
Diabetes (Type I)
Guillan-Barre Syndrome****
Lupus
Lambert-Eaton Syndrome
Multiple sclerosis
Rheumatoid Arthritis
Sjogren’s Syndrome
Sarcoidosis
Infections
Amyloidosis**
Epstein Barr Virus
Guillan-Barre Syndrome****
Hepatitis C
HIV
Lyme Disease
Mononucleosis
Mycoplasma pneumonia
Other Medical Conditions
Chiari Malformation
Delta Storage Pool Deficiency
Type II Diabetes/Pre-diabetes
Mast Cell Activation Disorders
Paraneoplastic Syndrome
Parkinson’s Disease***
Predisposing Environmental Factors and Possible Triggers
Alcoholism
Anemia / Certain Vitamin Deficiencies
Deconditioning
Pregnancy
Surgery
Toxic exposure to radiation, chemotherapy, or heavy metals
Trauma
*Classification of Reflex Sympathetic Dystrophy (Complex Regional Pain Syndrome) as a form of dysautonomia is controversial between some providers and therefore not universally included in the dysautonomia forms.
**There are several types of Amyloidosis with different forms that have causes that are: hereditary, autoimmune or infectious disease associated, and environmental or age related.
To learn more about Amyloidosis, visit: RareDiseases.org - Amyloidosis
***Parkinson’s often does not have a hereditary component, however 10-15% of cases of Parkinson’s are caused by a known genetic variation. Referenced Parkinsons.org - Genetics and Parkinson's
****Guillan-Barre Syndrome is an autoimmune disorder triggered first by an acute bacterial or viral infection. To Learn More: CDC - Guillain-Barre Syndrome
References:
For learn more about the different forms of dysautonomia, please visit the references below:
Referenced from The Cleveland Clinic (Cleveland Clinic - Dysautonomia: Symptoms, Causes, Types, and How to Live With)
Reichgott MJ. Clinical Evidence of Dysautonomia. In: Walker HK, Hall WD, Hurst JW, editors. Clinical Methods: The History, Physical, and Laboratory Examinations. 3rd edition. Boston: Butterworths; 1990. Chapter 76. Available from: https://www.ncbi.nlm.nih.gov/books/NBK400/
Ruiz Maya T, Fettig V, Mehta L, Gelb BD, Kontorovich AR. Dysautonomia in hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorders is associated with exercise intolerance and cardiac atrophy. Am J Med Genet A. 2021 Jul 30. doi: 10.1002/ajmg.a.62446. Epub ahead of print. PMID: 34331416. https://pubmed.ncbi.nlm.nih.gov/34331416/
Zhao S, Tran VH. Postural Orthostatic Tachycardia Syndrome. [Updated 2021 Aug 11]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK541074/
Any medical concerns should be directed to a health care provider or other professional medical treatment center. Professional medical advice should not be disregarded or delayed based on the testimony described on this blog, website, or any associated materials.