Francesca was having seizures, but she does not have epilepsy. She suffers from RAS, Reflex Anoxic Seizures. The seizures occur when the vagus nerve (see Wikipedia) overreacts to an unexpected stimulus. Francesca was not accurately diagnosed until she was three-and-a-half years old. As Trudie Lobban describes it, the seizures, "continued to happen more frequently, always after an unexpected bump, fright, or pain (however slight). Each time we rushed to the doctor's.
At its worst, Francesca had up to eight seizures per day. "At first says Lobban, " it was, 'one of those things toddlers do,' followed by 'possible epilepsy,' but all EEG, ECG, and scans were clear. She had many tests but no treatments, although many families I know are often prescribed anti-convulsant drugs.
"Fortunately we did not go down that route. The attacks increased and I would not accept that no one knew what was wrong, so asked for second opinions etc. until I eventually got some answers!"
It was only through diligent searching in two countries that Lobban found a cause for her daughter's seizures. "The physician, " she states, " had no idea what it could be, neither did the next two pediatricians, pediatric cardiologist or any other doctors.
"I wrote to every pediatric neurologist I could find in the UK and parts of the USA. Finally, I received a phone call from a pediatric neurologist in Scotland, Dr. John Stephenson. He is the doctor who named the condition in 1978 and who is the world expert.
"He asked if I would be prepared to travel to Scotland and he would give a definite diagnosis. I didn't hesitate. We made the appointment and went. He listened, took a detailed history of her attacks, and then performed ocular compression. Her heart stopped for 28 seconds. He and his staff were horrified. Meanwhile I said, 'that is nothing compared to a natural attack'!"
Francesca's disorder was diagnosed at Royal Hospital for Sick Children in Glasgow, Scotland. EEG, ECG, Blood Pressure, and ocular compression were evaluated. When she was seven years old, Francesca had a tilt test to help confirm she has RAS (the tilt table test involves tilting the patient while strapped to a table to imitate conditions that might cause a syncopal spell).
After the diagnosis, Lobban had many thoughts and feelings, "I felt relief that I had a diagnosis, fear, because I had never heard of it--and neither had anyone else. I experienced terror because there was no cure or treatment, and I had concern for my daughter's future."
Reflex Anoxic Seizures are one of several varieties of syncope, the condition most often misdiagnosed as epilepsy. Syncope, also called "faints," or sometimes, "fits," happen when the heart briefly stops, temporarily diminishing blood flow to the brain.
As Lobban notes, "With epilepsy there are irregular discharges from the brain, but with RAS there is nothing wrong with the brain or the heart. The problem is an over-sensitive vagus nerve. These seizures are usually triggered by something that startles or is unexpected. A sudden noise, or other unexpected stimulus triggers a reflex anoxic seizure."
RAS occurs in both children and adults. It is most often seen in children under the age of five. It is also common in young girls approaching puberty. As with seizure disorders, RAS may not follow a clear pattern. The seizures sometimes occur in clusters or may be spaced months or years apart.
A syncopal spell can appear identical to a seizure. However, syncope is neither epilepsy nor a brain disorder. Low blood pressure, low blood sugar, or cardiac arrhythmias are just a few things that may cause a syncopal spell. During a spell, the person's eyes may roll up into her head, she may have muscle jerking, twitching, and her limbs may stiffen before losing consciousness. Some types of syncope are benign, while others may be life threatening.
Loban states, " Syncope occurs in most people at some stage and is almost never a sign of underlying life-threatening disease. People with frequent or severe attacks should seek a medical diagnosis for rarer conditions which might need special treatment, e.g. syncope due to irregular heart rhythms or raised pressure in the head."
After Francesca was diagnosed with RAS, Trudie Lobban was dismayed to find there was no support or treatment for her daughter. Dr. Stephenson suggested she start a support group.
In 1993 Lobban founded STARS (Syncope Trust and Reflex Anoxic Seizures). STARS provides both information and support. It is open to anyone dealing with, or interested in syncope and RAS.
"Syncope," Lobban states, "is misunderstood and misdiagnosed. After describing the attack, doctors often think along the road of epilepsy because of the rolling eyes and jerking movements. Better awareness of the condition is needed and hence why the STARS aims and objectives are to raise both public and professional awareness. I travel the country lecturing in post graduate centres and hospitals to educate and train doctors so that future patients will have a less traumatic time obtaining a diagnosis and a better understanding of their condition."
"STARS US was launched on 23 February 2007," Lobban notes, " and is beginning to raise awareness throughout the USA. The STARS US Board comprises amongst others, Prof Blair Grubb, Cardiologist from Toledo University Hospital and Dr Bob Sheldon, Cardiologist, University of Calgary, Canada. Every year STARS helps to organise The Heart Rhythm Congress which is held in the UK and is attended by cardiologists from all over the world, including America."
The misdiagnosis of epilepsy may be more common than generally thought. In 1999, two researchers in the UK, Adam Fitzpatrick and Amir Zaidi, made headlines when one of their studies revealed many people labeled with epilepsy were misdiagnosed. These and other studies reported in the UK and the USA suggest as many as forty percent of people diagnosed with epilepsy may instead have syncope or other non-epileptic disorders.
According to Lobban, "If an EEG rules out epilepsy and an ECG shows there is no underlying heart problems, then the doctor may ask for a tilt table test, a heart monitor or even an ILR (implantable loop recorder) to help him with his diagnosis. However, if someone's seizures are not responding to medication, then it is advisable to look for some other cause."
Parents need to know, as Lubban says, " It is very common for children to suffer with both breath holding and RAS and it can be difficult to decide which is which. With RAS, there is always a trigger, unusually an unexpected bump, shock or even pleasant surprise. Nothing to do with the level of pain but the unexpectedness of it. RAS is beyond the control of the child. There is nothing wrong with their heart or brain but an over-sensitive vagus nerve.
"With breath-holding," she continues, "there are two types - one where the child cries and cries until they cannot get their breath and passes out only to recover almost immediately. The other, the child deliberately holds their breath, often through frustration, temper etc., passes out and immediately recovers. The latter is in control, the former is more like a panic attack."
A number of tests are available to diagnose syncope. As in Francesca's case, the electrocardiogram alone was not sufficient to make the diagnosis. Other tests for syncope includer wearing an overnight monitor to record heart activity. The tilt table and the insertable loop recorder are two other tests used in diagnosing syncope.
As Lobban emphasizes, "The important fact is that with RAS there is always a trigger. However, this may not always be witnessed at every attack. The trigger may be very slight, such as a toddler running across the room and stepping on a toy or a dog barking."
People with cerebral palsy and other brain disorders who are diagnosed with epilepsy, Dr. Stephenson notes, may actually have RAS. Failure to achieve seizure control with anticonvulsants may indicate syncope or other cardiac disorders are causing the symptoms.
Syncope and RAS may also be mistaken for breath-holding spells, temper tantrums, or behavioral disorders. A spell may cause crying, emotionalism, and changes in behavior, physical sensations, and mental states.
A number of tests are available to diagnose syncope. As in Francesca's case, the electrocardiogram alone was not sufficient to make the diagnosis. Other tests for syncope include wearing a King of hearts monitor over a period of days or weeks [ http://www.fremantleheart.asn.au/305.html ] or wearing an overnight monitor to record heart activity. The tilt table and the insertable loop recorder are two other tests used in diagnosing syncope.
As Lobban discovered, it may take a lot of persistence, and many second opinions to discover if syncope is the cause of seizures, "I was convinced there was something seriously wrong with my daughter, that she might die during one of her attacks; it was such a relief to finally get a diagnosis. It was then utter despair that no-one knew anything about it, what caused it, no cure, and at that time, no treatment.
"I could not accept that in this day of medical advances so little was known about reflex anoxic seizures. I was determined to do my best to ensure no other parent and child would experience the fears, worry and anguish that we had gone through."
STARS offers educational pamphlets, books, videos, and one-to-one support through email, letters, and a telephone help line. STARS has sponsored six symposiums on syncope, attracting medical specialists from several countries as speakers.
Trudie Lobban's most stalwart support has been Prof. Stephenson, "Professor Stephenson has been 100% supportive from day one. He is always there, whether by phone or email. He attends every conference I have organized, and contributes to newsletters." Additional information on syncope and RAS can be found on the STARS web site: http://www.stars.org.uk/
http://www.medserv.dk/health/1999/05/17/story04.htm
-- fainting misdiagnosed as epilepsy
http://www.acc.org/media/releases/highlights/2000/july00/seizure.htm
-- American College of Cardiology, press release
http://heartdisease.tqn.com/cs/syncope/
-- SYNCOPE & HEART DISORDERS INFORMATION
http://www.mgh.org/heart/tilt.html
-- Tilt Table Testing
"A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)"
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©2002, 2007 by Zoë L. Langley