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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