Zebra looking for an umbrella

Having more than one disease complicates everything. Most of those diseases being rare and understudied turn those complications into catastrophes. Doctors don’t know what to do with you and they truly don’t care to try. When you are already suffering from a mystery, the last thing you want is for your doctor to quit helping. Sometimes that dismissal seals a sufferers decision to give up. It reinforces their anxieties and amplifies their pain. Along with hope, their motivation for life disappears. 

I asked for help everywhere. At first, I didn’t know what was happening to my body. My early symptoms were dismissed as typical illness and injury. I was told to wait. Wait for relief. Wait for testing. Wait for medication. Wait for it to go away on its own. Nearly 7 years later, I am only alive because I didn’t keep waiting. I pushed even when I didn’t have the strength.

My first hospital and doctor experiences were awful. There was no interest in my case. There were misdiagnoses and poor advice givers everywhere. It was incredibly difficult to find a primary doctor who would take me on as a patient. Eventually, I found a small town physician who was known for not giving up on patients. He was not a miracle worker, but he listened and actually looked into my weird symptoms. 

After some testing proved that my symptoms were not imaginary, we agreed to send my case to the major diagnostic hospitals in the country. They all denied my application. Places like Mayo Clinic, Johns Hopkins, and the National Institutes of Health wrote back with letters stating that they had nothing to offer and would not look into my illness. It was a pretty disappointing time since my doctor was unsure of how to help me and I was holding out hope for a diagnostician who could create an effective treatment plan.

Eventually, we cobbled together enough local specialists who were mildly interested in my condition. They were all at different locations and held a variety of theories about how to proceed. Then I was hospitalized, again. My heart kept trying to kill me. This time it was at a major regional teaching hospital. It was a minor relief to be treated under one roof. At least at the teaching hospital, students and researchers kept doctors more engaged and on the cutting edge of medicine. I was there for 14 days. Through that time I had many tests and ALL the blood work. The diagnosis came towards the end. I had Postural Orthostatic Tachycardia Syndrome and Ehlers-Danlos Syndrome. 

Relieved to have names to what I was experiencing but wreaked from being hospitalized for two weeks, I worked on treating the symptoms. I was experiencing relief but also disappointment that my body kept rebelling in different ways. I had massive migraines and nerve pain that were not related to my diagnosis. Why was I in so much pain?

 It had been years of almost answers and I just wanted to know what was wrong at the top. What was my umbrella condition? All these issues couldn’t possibly be showing up as stand alone diseases, right? More years, more tests later, I was diagnosed with Small Fiber Autonomic Neuropathy (I’ll go into that process another day) and Chronic Daily Migraines. Somehow, my list of conditions kept growing. Keeps growing.

I still have the same small town doctor who initially took me on. He has been instrumental in getting me in the door with specialist and encouraging diverse treatment options. Even with his help, I can’t get anyone to find my overarching condition. Surprisingly, doctors seem extremely resistant to the idea that a body’s diseases are interconnected. What seems so obvious to myself and people outside the medical field is pushed against and argued by the doctors. 

I stopped searching for a cure to my broken body a while ago. I still hold out hope for a miracle but now I am focused on finding useful treatments and learning the interconnectedness of multi-system diseases. 

On a personal rant, from a non-medically educated perspective, it appears as though POTS, EDS, and Gastroparesis cluster together. People with one of these conditions often experience symptoms of the others. Women are especially vulnerable and have a glaring overlaps of the three. Autonomic small fiber neuropathy is a full body disease and is not mentioned much in medical literature. I am still at a loss for its explanation but it is definitely a part of RLS and likely MCAS. Migraines are a terribly common condition. Although they are well studied, a cure and a cause both remain mysterious. But what do I know? I’m just going through it everyday. 

If anyone out there finds an umbrella, let me know.

When they ask, “What’s wrong with you?”

My officially diagnosed conditions and their medical definitions are as follows:

 

Ehlers-Danlos Syndrome (EDS) – Hypermobility type: “A group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications”. National Institutes of Health

Postural Orthostatic Tachycardia Syndrome (POTS): “Postural orthostatic tachycardia syndrome is a condition that affects circulation. It involves the autonomic nervous system and sympathetic nervous system”. Cleveland Clinic

Gastroparesis: “A disorder that slows or stops the movement of food from your stomach to your small intestine, even though there is no blockage in the stomach or intestines”. National Institutes of Health

Chronic Daily Migraines: “A moderate or severe headache felt as a throbbing pain on one side of the head. Many people also have symptoms such as feeling sick, being sick and increased sensitivity to light or sound”. National Health Service

Mast Cell Activation Syndrome (MCAS): “A condition in which the patient experiences repeated episodes of the symptoms of anaphylaxis – allergic symptoms such as hives, swelling, low blood pressure, difficulty breathing and severe diarrhea”. American Academy of Allergy, Asthma, and Immunology

Small Fiber Autonomic Neuropathy: “Occurs when the nerves that control involuntary bodily functions are damaged. The nerve damage interferes with the messages sent between the brain and other organs and areas of the autonomic nervous system, such as the heart, blood vessels and sweat glands”. Mayo Clinic

Restless Leg Syndrome (RLS): “A neurologic and sleep related movement disorder characterized by an irresistible urge to move in the legs that typically occurs or worsens at rest. It is usually accompanied by abnormal, uncomfortable sensations, that are often likened to crawling, cramping, aching, burning, itching, or prickling deep within the affected areas”. National Organization for Rare Disorders

Trigeminal Neuralgia:“A disorder of a nerve at the side of the head, called the trigeminal nerve. This condition causes intense, stabbing or electric shock-like pain in the lips, eyes, nose, scalp, forehead and jaw. Although trigeminal neuralgia is not fatal, it is extremely painful”. Cedars-Sinai

 

Here is how I would define the conditions in my own words:

Ehlers-Danlos Syndrome (EDS) – Hypermobility type: Double jointed. Doing party tricks with my flexibility. Some dislocations. Frequent subluxations. Stretchy velvet-soft skin. Thought this was a normal body type for most of my life. Gets more pronounced with age. Affects POTS and Gastroparesis.

Postural Orthostatic Tachycardia Syndrome (POTS): Dizzy when I stand up for awhile. Sometimes I faint. Heart rate skyrockets with slight movement and blood pressure plummets. Living in a frequent state of flight or fight. Thought this was a normal feeling for most of my life. Affects Chronic Migraine.

Gastroparesis: Stomach is paralyzed. Frequent severe nausea, vomiting, pain, and constipation. Can’t digest fiber and fat. Sometimes I get bezoars (fiber hair balls in stomach). Hellish journey to diagnosis due to gender stereotypes.

Chronic Daily Migraines: Severe stabbing pain on one side of my head. Accompanied by nausea and vomiting. Pain so bad that I have smashed my head against a wall and contemplated using a hammer on my face in a desperate bid to find/stop the stabbing. Triggers are elusive and pain can either be sudden or building.

Mast Cell Activation Syndrome (MCAS): Hives and hyper-sensitive skin. Especially bad at night. Skin looks like I have laid down in a bed of mosquitos and poison ivy. Mix of hives looking like small bug bites, rash, and large spider bites. Facial flushing. Shortness of breath. Night fevers. Itching so bad that skin sometimes bleeds. Thought I was being attacked by bugs every night. Affects Gastroparesis.

Small Fiber Autonomic Neuropathy: Being skinned alive with a burning hot knife. Sudden stabbing pain throughout the body. Having hands, feet, and legs squeezed in a clamp, set on fire, and then released, repetitively. Numbness alongside constant pain resulting in a lack of mobility, energy, and strength. No control over body temperature.  Affects Chronic Migraines, Gastroparesis, RLS, Trigeminal Neuralgia, and full autonomic nervous system.

Restless Leg Syndrome (RLS): Crawling and an almost deep itch sensation in the muscles of the legs and abdomen that only happens at rest and/or at night. Absolutely maddening, confusing, and causes insomnia. Thought this was not a real condition.

Trigeminal Neuralgia: Sudden shooting pain in my eyes and nose. Makes my eyes water and nose bleed/run. Shock-like pain made worse by cold and pressure. A miniature version of migraine level pain in face for short periods of time. Affects Small Fiber Autonomic Neuropathy.