Real life story: living with the rare disease Dysautonomia

In 2013 Lee Wiltshire (27) from Mandeni KwaZulu-Natal was diagnosed with Dysautonomia. She’d had symptoms since she was a child, but only started getting really sick a few years ago.

Weak and lightheaded

Imagine your heartbeat increasing from 60bpm when sitting, to up to 150bpm when standing up. This is called POTS, short for Postural orthostatic tachycardia syndrome, which is a form of Dysautonomia. She also often felt weak and lightheaded and struggled with symptoms like memory issues, abnormal dilation of the pupils, heat intolerance, anxiety and frequent urination.

Because of this Lee is unable to stand for longer than about two minutes. If she does, she risks passing out and sometimes just sitting upright makes her lightheaded. In her own words: “I got to the stage I was passing out multiple times a week.”

Read: Passing out

Every time she stands up Lee gets lightheaded, and mostly she just tries to try “push through it”, but when her hands start shaking and she loses her vision, she knows she’s going to lose consciousness.

“Sometimes I have no warning and just drop, other times I have a chance to lie down on the floor to get my heart rate back to normal. If I need to go somewhere where I know I’d have to stand for a while, I have to use a wheelchair.”

IV saline therapy

At first, the specialists couldn’t figure out what was wrong with her and to rule out other diseases, she had blood tests, MRIs, a lumbar puncture and many other tests. Some of her blood was sent overseas because all tests were not available in SA, and as Lee says: “I was very fortunate that my doctors were able to make the diagnosis.”

They tried many treatments to help manage the symptoms, but nothing worked. One day Lee read online about how Dysautonomia patients overseas were getting IV saline therapy to help with their symptoms, so she spoke to her neurologist about it and gave it a try.

Read: Heart healthy salt dosages

Since July 2014 she’s been getting IV therapy every 4-5 days. This has made a huge difference and according to Lee has really helped improve her quality of life, and although she still gets lightheaded when she gets up, she doesn’t pass out nearly as much as she used to. “Dysautonomia is an unpredictable disease and symptoms can change very quickly. Sometimes I have ‘good days’ where the symptoms are manageable, and other times I can be very sick and end up in hospital.”

What is Dysautonomia?

Dysautonomia is caused by a malfunction of the patient’s autonomic nervous system, and according to Dysautonomia International Postural Orthostatic Tachycardia Syndrome (POTS) is a form of dysautonomia that is estimated to impact between 1,000,000 and 3,000,000 Americans, and millions more around the world.

“The current diagnostic criteria for POTS is a heart rate increase of 30 beats per minute (bpm) or more, or over 120 bpm, within the first 10 minutes of standing, in the absence of orthostatic hypotension.”

Symptoms

Although the most commonly recognised symptom of POTS is an increased heart rate when standing up, there are many more symptoms associated with the disease.

Accoring to Dysautonomia Information network Dysautonomia means dysregulation of the autonomic nervous system and the condition can produce the apparent malfunction of the organs it regulates. For this reason, dysautonomia patients often present with numerous, seemingly unrelated maladies.

“Symptoms are wide ranging and can include problems with the regulation of heart rate, blood pressure, body temperature and perspiration. Other symptoms include fatigue, lightheadedness, feeling faint or passing out (syncope), weakness and cognitive impairment.”

Symptoms are not equally severe in all cases and some patients can lead relatively normal lives and go to school, work and enjoy social activities. Only about 25% of POTS patients are disabled and cannot work.

History

POTS is not a new disease, and before 1993 it was known by names like Da Costa’s Syndrome, Postural Tachycardia Syndrome and Mitral Valve Prolapse Syndrome. At one stage it was also erroneously believed to be caused by anxiety.

According to Dysautonomia International POTS can strike any age, gender or race, but it is most often seen in women of child bearing age (between the ages of 15 and 50). Men and boys can develop it as well, but approximately 80% of patients are female.

POTS is not a disease, but just a cluster of symptoms that are frequently seen together. Therefore POTS is a syndrome and not a disease. Pinpointing the cause of POTS in an individual patient is also often difficult, if not impossible, and may be called Idiopathic POTS, which just means that the origin is unknown.

Treatment

Treatments for POTS include:

– Increasing fluid intake to 2-3 litres per day

– Increasing salt consumption to 3,000 mg to 10,000 mg per day

– Wearing compression stockings

– Exercises such as rowing, recumbent bicycling and swimming

– A healthy diet

– Appropriate medication

Conclusion

Currently there is no cure for POTS. There is little research on the syndrome, but with lifestyle adjustments, exercise and the correct treatment many patients experience improved quality of life. There are patients who have reported a complete resolution of their POTS symptoms.

Lee has opened up a twitter account so that anyone else in South Africa who has Dysautonomia can contact her: @Leeaw14

Read more:

Quick facts on rare diseases

Fits and faints in children

Too little salt is bad