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Special Report
Challenges
of Diagnosis
Things like connecting with Epilepsy Action Australia on
Facebook and talking to people going through the same difficulties has
been one of the biggest things to help me cope.
Why is epilepsy difficult to
diagnose?
Epilepsy is by nature difficult to detect
because:
1. It is episodic and unpredictable – in
other words epileptic seizures only occur
from time to time without warning, and are
generally over quickly (in a few minutes). This
usually prevents doctors from seeing seizures.
It also makes it harder for others to witness
them and record what happens so details can
be passed on to health providers.
Determining a
diagnosis of epilepsy
can be very difficult
for doctors and
patients. We explore
the reasons for
this, why definitive
answers are so
important, and how
people can assist
in the diagnostic
process.
8 Epilepsy360º – June 2011
“A
long road” is how Belinda* describes
her journey to obtain a diagnosis
of epilepsy. The 26-year-old Perth
resident and her parents had to wait
10 long years after her tonic clonic and simple
partial seizures began at age 10 for them to finally
be identified. For Belinda, whose seizures led
to disruptive hospital stays as a child, the terror
of the episodes themselves was compounded by
worry she might be imagining the problem and be
mentally or emotionally unstable.
While “it was incredibly scary” for Belinda not
knowing what she was doing during her seizures,
she also experienced a feeling of intense fear at
the beginning of a seizure, “then I would lose
consciousness. But my seizures were very painful
and that was something doctors had never seen
before. That’s when they told me, ‘Oh, people who
have epilepsy and seizures don’t experience pain,
so it can’t be epilepsy. It must be in your head. For
specialists to tell me that, was very upsetting.”
Doctors thought Belinda could be having
pseudoseizures, which resemble epilepsy but
have a psychological cause. Initially she was sent
to numerous child psychiatrists, which “was very
hard for me and very hard for my family at the
time.”
“You start thinking that you’re making it up or
you’re crazy,” she says. “That plays a lot on your
mind.”
Misdiagnosis is common
Sadly Belinda is one of many for whom epilepsy
diagnosis is slow and fraught. Some forms of
epilepsy can be notoriously difficult to identify.
Yet at the same time, a number of other events
can easily be confused with seizures and be
misdiagnosed as epilepsy. A 2007 US study
revealed that about 30% of patients seen at
epilepsy centres for difficult to control seizures
turned out to not be experiencing seizures at all.
As in Belinda’s case, misdiagnosis and a
drawn out process of diagnosis takes a
huge toll. Along with the additional fear
and uncertainty in an already frightening
situation, doubt about which medical
condition – if any – is to blame for seizure
episodes means patients are stuck in limbo
and treatment is delayed, incorrect, or nonexistent.
In Australia, an informal Inquiry tabled
in Federal Parliament in March 2010 (see
Spotlight, page 14) by the Parliamentary
Friends of Epilepsy – a group of ministers
united to raise epilepsy awareness in
Australia – found “an ongoing theme”
in submissions from individuals and
organisations about the impact of epilepsy
was “lack of proper, timely diagnosis …
vague diagnosis.” The Inquiry also stated
that “the ongoing trial and error of trying to
control epilepsy [is] draining for the patient,
carers and wider family.”
2. Doctors rely heavily on a description
from the person or an eyewitness, called
a ‘seizure history’ – most times, observer
accounts form the basis of a positive
diagnosis and also allow doctors to determine
seizure type/s. But these are subjective,
and made even less reliable by fear and the
difficulty of remembering such a short-lived
occurrence. If no-one saw the seizure, the
person who had it must try to describe their
experiences and behaviour during an event
they may not even remember.
3. Between seizures, there may be no
obvious physical signs of epilepsy – while
many other neurological disorders can be
detected by differences in the brain during
tests like an electroencephalograph (EEG)
or Magnetic Resonance Imaging (MRI),
epilepsy may not show up. In fact, EEGs will
only show abnormal brain patterns consistent
with epilepsy in 30-55% of people with the
condition.
The only positive diagnostic test for many
types of epilepsy is to record a seizure, usually
using a video EEG. But this is a lengthy and
costly process, that is not widely available.
In Belinda’s case, geographical distance
between the New Zealand town where she
grew up and Auckland, the nearest city,
limited her access to specialists and MRI or
EEG tests when her seizures began. However
when she was 20 years old, an MRI scan gave
conclusive results.
Distinguishing between
non-epileptic events and
epilepsy
It is essential that doctors do their best to
avoid misdiagnosis and incorrect treatment
by first obtaining accurate information from
patients and then investigating any areas of
doubt. It can help to check if the events:
• Are similar to each other
• Last between 10 seconds to 2 minutes
• Cause loss of consciousness or awareness,
or confusion
• Begin with the same sensation every time
• Have any particular trigger
What can help to get an
accurate diagnosis?
Discuss your medical history in detail
with the doctor. Include anything about
your health and lifestyle to help uncover
the causes of your seizure, such as drug
use, head trauma, fainting and infections.
Your doctor will also want to know if you
or anyone in your family has had seizures.
Bring someone to the appointment who
has seen your seizures. You may have
trouble recalling or describing your seizures
and what happened in the moments prior. If
a close friend or colleague saw, ask them to
either attend the appointment or describe the
seizures to you beforehand so you can tell
your doctor. Consider asking people who
often see your seizures to make a home video
recording of them. This can be very valuable
for the doctor to see.
Expect your doctor to perform several
tests to diagnose your condition. The most
common method used to diagnose epilepsy is
an EEG, which tests your brainwave patterns
for unusual activity through electrodes
placed on your scalp.
Realise that around half of the time,
abnormal brain activity from epilepsy
does not appear on an EEG. In these cases,
Epilepsy360º – June 2011 9
Special Report
What other conditions can be confused with epilepsy?
Many conditions have seizure-like symptoms. This fact complicates the diagnosis of episodic events that could be epilepsy.
These include:
Breath-holding – affecting about 1 in 20 children, these spells can
occur in babies and are very common in toddlers. They often happen
during tantrums, although they are a reflex action to unpleasant
stimulus, not deliberate behaviour on the child’s part. They start when
children cry in anger, frustration, physical pain or fright, then briefly
lose their breath and turn red in the face before turning blue, especially
around the mouth. Afterwards the child will often go limp, pass out and
fall to the ground, and in rare instances may even have a seizure.
other tests are required. Another common
diagnostic test for epilepsy is brain imaging,
usually MRI, which is often used with
children or for first-time seizures in adults.
A blood test may be needed to rule out
other diseases associated with seizures. These
will generally be recommended by your
doctor.
Keep a diary if you are having seizures
or episodes reasonably often. Record not only
the episode, but time of day, what you were
doing, were you well, had you eaten, were
you stressed or tired etc. Diaries can reveal
patterns useful in diagnosis.
Be persistent and get second
opinions
Belinda says that when diagnosis was difficult
and slow, patience and perseverance was the
key to finding a name for her condition. Her
parents also played a central role in pushing
for information.
“They were very persistent,” she explains,
“and were always going down different
avenues to try and get answers. They were my
pillar of strength.”
She recommends people in her situation
seek further opinions until they find a doctor
they can have clear and easy communication
with, as this builds understanding on both
sides that makes correct diagnosis and
effective treatment more likely. Also a
good partnership can increase a patient’s
confidence and positivity, which helps
improve health outcomes.
As Belinda says, “I’ve been to a couple of
GPs and neurologists and I’ve honestly come
out of there with my confidence so battered
and feeling so upset and thinking, ‘this is not
10 Epilepsy360º – June 2011
You start thinking that you’re making it up or you’re crazy,”
she says. “That plays a lot on your mind.
how it’s supposed to be,’ ” she says. “And
then you come away from others just feeling
so energised.”
Benefits of diagnosis go
beyond better treatment
A definitive diagnosis of epilepsy can be a
great shock, but it is also the first step towards
receiving the best, most suitable treatment
– and much more. Even when diagnosis
does not bring to light a treatment that stops
the seizures, other benefits can be just as
important to a person with epilepsy and their
family and friends.
Belinda, for example, has not yet achieved
seizure control, but says it was “such a huge
relief that there was finally a conclusive
diagnosis and to know you’re not crazy,
that there’s a name for all these feelings you
have.”
Since diagnosis, Belinda has been able
to research her condition on websites like
Epilepsy Action Australia’s and discovered
information that has helped her modify her
lifestyle to reduce seizure triggers like stress,
lack of sleep and over-exercising, to manage
her epilepsy better.
Another great help has been getting
to know other people facing the same
challenges. A recent hurdle for Belinda was
when her simple partial seizures increased
last June – “a struggle,” she says, not just for
her but her family, especially her husband.
“Things like connecting with Epilepsy
Action Australia on Facebook and talking to
people going through the same difficulties
has been one of the biggest things to help me
cope,” she explains. “It’s given me strength
every day to go through things knowing I’m
not alone. It’s been liberating.”
Further reading:
http://www.ehow.com/how_2088402_
diagnose-epilepsy.html#ixzz1GXCnDAZ6
http://www.epilepsy.com/epilepsy/newsletter/
nov10_diagnosis
http://professionals.epilepsy.com/page/
cerebrovas_diag.html
http://www.neurologychannel.com/epilepsy/
differential-diagnosis.shtml
To join Epilepsy Action Australia on
Facebook and connect with other
people in similar circumstances,
visit our Facebook page and ‘like’
Epilepsy Action Australia.
* Name changed for privacy.
Meniere’s disease – this condition of the inner ear results when excess
fluid disturbs the ear’s balance and hearing mechanisms. Sometimes
people affected may have sudden falls or drop attacks. Symptoms
include:
• A form of dizziness where your surroundings appear to move or spin
(vertigo) – like epilepsy these can be episodic, occurring without
warning in clusters with gaps (from days to years) in between and
varying in severity and length
• Hearing unusual ringing or buzzing noises (tinnitus)
• Sporadic hearing loss
• A feeling of pressure or fullness in the ear due to fluid build-up.
Migraines – these headaches typically last from 4-72 hours and can
cause nausea and vomiting as well as sensitivity to light, sound or
smell. Sufferers often describe throbbing pain that worsens with normal
activities. But it is when headaches are milder that other symptoms
surrounding migraines can be mistaken for epilepsy. These include:
• ‘Auras’ or warning signs that occur beforehand: mostly visual
disturbances such as seeing flashing lights or bright zig-zag lines, but
also changes in smell or perception
• Difficulty concentrating and confusion
• Feeling extremely unwell generally
• Problems with co-ordination or speech
• Tingling, pins and needles, numbness or even weak limbs on one side
• Paralysis or, rarely, losing consciousness
Movement disorders – this group of neurological disorders including
Parkinson’s disease, Huntington’s Chorea and Tourette’s Syndrome
involve a person’s muscles and movement systems. The resulting
tics and involuntary movements can sometimes be confused with
myoclonic seizures or simple partial seizures, and they often respond to
antiepileptic medication although they are not associated with loss of
consciousness or EEG abnormalities.
Fainting (syncope) – these episodes of unconsciousness are caused
by a sudden drop in blood pressure that temporarily reduces blood
supply to the brain. People faint after events that prompt blood vessels
to dilate, such as extreme heat, emotional distress or pain. Normally
faints are brief and people are back on their feet quickly. But if the faint
is prolonged and recovery slow, muscle spasms can occur (convulsive
syncope) which can be mistaken for tonic clonic seizures.
Transient Ischaemic Attacks (TIAs) – these ‘mini-strokes’ happen
when blood supply to a small part of the brain decreases for a short
time. They resolve within 24 hours, but symptoms like confusion,
difficulty talking or understanding speech, and loss of balance and coordination can be confused with complex partial seizures.
Panic or anxiety attacks – brief episodes of intense fear or
apprehension occurring abruptly out of the blue. They reach a peak
within 10 minutes and are mostly over within 30 minutes. Although
they can last from 15 seconds to hours, with symptoms including
trembling or shaking, dreamlike sensations or distorted perception,
rapid heartbeat, chest pains, dizziness, and terror. Since these are
episodic and there are genuine physical symptoms, they can be
confused with seizures.
Sleep disorders – like seizures, sleep disorders can make people
feel confused and behave and move differently, they may see or hear
things when drowsy or awakening (hypnogogic or hypnopompic
hallucinations), or experience rhythmic movements such as headbanging or rocking. Sleep disorders that can be mistaken for epilepsy
include night terrors, sleep walking, movement disorders, bed wetting,
sleep apnoea, and narcolepsy. Rarely, extended periods of sleep apnoea
may also lead to a seizure, but this is not considered epilepsy.
Psychogenic non-epileptic events (PNES) – psychological in origin,
usually with a stress-related or emotional cause, these events outwardly
resemble epileptic seizures but there are no changes on the person’s EEG.
Cardiac events – these can be accompanied by blackouts or other
seizure-like symptoms.
Seizures that aren’t epilepsy
A number of seizure types are not considered epilepsy. Called reactive
seizures, these have an obvious known cause and do not tend to recur
unless the underlying condition causing the seizure recurs. Treatment
aims to identify and cure the injury or disease process responsible.
Examples of reactive seizures are:
• Withdrawal seizures after a person stops taking a substance of
abuse, namely drugs or alcohol. These usually occur in first 72 hours
of withdrawal. Drug-related seizures can also happen when someone
is highly intoxicated, particularly by stimulants (for example speed,
cocaine, ecstasy).
• Febrile seizures that relate to a rapid rise in body temperature in
babies, infants or children. The most common seizures in children,
they often run in families and can occur again with fever in about
30% of children.
• Metabolic or toxic conditions – seizures can occur during serious
illnesses like renal or liver failure, significant body infections, low
blood sugar levels, electrolyte disturbances in the bloodstream or
carbon monoxide poisoning.
• Medications such as antidepressants, antipsychotics, anti-rejection
drugs, antibiotics and painkillers can cause seizures when given in
high doses.
• Anaphylaxis, a severe allergic reaction, may trigger a seizure.
• Concussive convulsions when seizures occur immediately after head
trauma, for example in contact sports.
Epilepsy360º – June 2011 11