Person Living with Epilepsy: A Case Study

Kadymars G. Jabonero 1
Cyrah Gale H. Rocamora 1
Lady Emela E. Tolibas 1
2
STEM Students, Congressional National High School, Dasmarinas City, Cavite

ABSTRACT

Epilepsy is a brain disorder that largely influences the patient’s life. It is the most common
neurological disorder requiring long-term health care contact. This study focuses on idiopathic
epilepsy which could be a genetic disease. This study directed towards understanding the history
and lived experience that is subjective cognitive decline to assess the deeper meaning of living
with epilepsy. The selected participant is in the adolescent stage that belongs in the group of
young people living in Dasmariñas City, Cavite. This research described the nature and life
experience of a young person relating with her inherited disease. Personal interview and
observations about the way of living of the selected participant were conducted by the
researchers. The affected participant of the stated genetic disease served as the primary source
of data. It was revealed that the person with epilepsy have experienced difficulties on the past
eight years ago during her childhood stage. Certain medication and epileptic testing were
confined to the person with epilepsy.

Keywords: Epilepsy, Seizure, Idiopathic generalized, Genetic Disease, Case Study

INTRODUCTION

Genetics play an important role in Epilepsy can begin at any age.

human diseases. Many human diseases have a
genetic component and epilepsy is one of those
hundreds genetic diseases that is identified. The
disease of Epilepsy has existed for thousands of
years but only in the past hundred years or so
has it begun to be understood. The only
symptom of epilepsy is the epileptic seizure and
anyone who has experienced or seen such a
seizure knows that this experience can be
frightening and strange especially without the
knowledge of modern science.
According to Milligan (2006), a seizure
is a temporary alteration in brain function due
to excessive hypersynchronous neuronal
activity while epilepsy is the tendency to have
recurrent unprovoked seizures.
Sometimes the onset of seizures is attributed to
injury, infection or hereditary predisposition,
but often, there is no known cause or trigger for
epilepsy (Kullman, 2002). Undiagnosed and
uncontrolled, it may progressively alter normal
brain function and create serious social and
psychological problems. For these reasons,
early diagnosis and treatment are crucial.
Epileptic seizures may also involve complete or
partial loss of consciousness or simply disturbed
sensory perception this also includes
experiencing tastes, smells, sounds or images in
the absence of an actual environmental
stimulus.
Since the inheritance of epilepsy is
often complex, some epilepsy syndromes are
completely determined by genetics, and genes

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are a major factor in other syndromes. Some
inherited metabolic conditions also raise the
likelihood of having seizures, as do some
chromosomal disorders.
In the study of Hart (2012), she stated
that epilepsy is the commonest serious
neurological condition, with a prevalence of
0.5–1%. It can occur at any age, but is
particularly likely to develop in the very young
and the elderly. Approximately 50% of people
have a recurrence within 2 years of a first
seizure. In the majority seizures are easily
controlled with medication, and at least 50% of
those who remain seizure-free at 2 years are
later able to withdraw medication without
recurrence.
Minassian (2010) revealed in her study
that two children with mutations on different
genes may develop the same epilepsy
syndrome. Two members of the same family
with the same gene mutation may both develop
epilepsy, but the effects in each person may be
very different.
Two large types of epileptic seizures
have been distinguished, each of which is
further divided into smaller groups.
Type one, primary generalized epileptic
seizures; are seizures in which sudden epileptic
discharges in the nerve cells appear
simultaneously in both brain hemispheres,
without a tangible focal origin of the discharge
in one hemisphere. This type of seizures may
have one of two forms: 1. primary generalized
seizures, sometimes with biting of the tong or
the inner cheek and/or involuntary urination;
the seizure usually lasts from 1 to 3 minutes and
always involves loss of consciousness or 2. loss
of consciousness only for several to over a
dozen seconds.
Type two comprises several dozen
forms of seizures, all of which have focal onset.
This means that each of these attacks begins in
a specific group of nerve cells, the so-called
epileptic focus. Localization of this focus
determines the clinical form of the seizure. We
call this type of seizures partial seizures.
2
There are two forms of partial seizures:
1. partial simple and 2. partial complex. The
arbitrary difference between them consists in
assessment of the patient's state of
consciousness at the time of the seizure. In
partial simple seizures the patient is conscious
whereas in partial complex seizures there is loss
of consciousness. The degree of loss of
consciousness may vary depending on the
spread of the epileptic discharges.
It is now accepted that two epileptic
attacks without a tangible cause within a period
of 1 to 2 years signifies epilepsy. However in
certain conditions even one seizure is sufficient
to diagnose epilepsy and to start antiepileptic
treatment. (Fundacja, 2010)
Although epilepsy syndromes include
one or more seizure types, this concept goes
further, taking into account other patient
characteristics known as Juvenile Myoclonic
Epilepsy.
Juvenile Myoclonic Epilepsy (JME) is an
idiopathic generalized epilepsy syndrome
characterized by myoclonic jerks (particularly in
the morning) and generalized tonic-clonic
seizures; 28% of affected persons also have
absence seizures- a type of generalized seizure
that can occur in both idiopathic and
symptomatic, generalized epilepsy. IGEs make
up approximately one third of all epilepsies, and
different IGE syndromes frequently cluster
within a family. They are considered to be
primarily genetic in origin. JME is an inherited
disorder, although in most cases the exact
mode of inheritance is unclear. Between 17%
and 49% of patients with JME have a relative
with epilepsy. The genetics of IGEs are often ion
channel disorders. The more common familial
IGEs are complex and nonmendelian. There has
been considerable progress in identifying many
of the genetic mutations responsible for
epilepsy that can result in a similar
electroclinical syndrome (Vollmar, 2012)
The main objective of this study was to
know the experiences and conditions of people
living with epilepsy and how they are coping
with this kind of genetic diseases. Thus the
research question was formulated: What is the researchers were able to gain ideas
nature and history of an individual living with regarding the life of an epileptic person.
epilepsy? Before the tests were conducted, the
permission of the school authority was asked
METHODOLOGY first. The research data was conducted and
gathered from the information given by the
Case study was applied on this
person with an epileptic disease with relevance
qualitative research in which it focuses on the
to her way of living.
life of a person with regards to his/her genetic
disease he/she possesses in life. Connecting
RESULTS AND DISCUSSION
from the previous chapter, this study was
pertaining to investigate the life of a person
A sixteen year old girl was the
with an epileptic disease. This type of research
respondent of the study due to her availability
that was a case study for it actually investigated
and the criterion set by the researchers that she
the nature and history of the person with
was met. She was interviewed by the
epilepsy. This study was exploring the in-depth
researchers in a natural setting way where in
description of experiences with the stated
the conversation flowed smoothly.
disability.
The interview begun in conversational
Researchers were solicited the
way where the interviewer asked the
participation of one (1) epileptic person. An
respondent about her condition then the
epileptic person met the standard or criterion
respondent started to narrate it.
of this research for it is relating to the topic and
At the first part of the interview, the
this participant was the needed person to
respondent mentioned the history of her
conduct this research.
genetic disease and traced where she inherited
The method that was employed to the
her epileptic disease. She stated,
participant was non-probability purposive
“Sa father’s side kasi sabi ni mama sa
sampling. Non-probability sampling selects the
father’s side raw dun sa part ng pinsan ni papa”
people relating to their characteristics that
Minassian (2010) reveals that epilepsy
relates to the topic. This type of non-probability
often runs in families. If a parent has idiopathic
sampling that is purposive sampling technique
epilepsy, there is about a 9% to 12% chance
was also known as judgement technique that
that the child will also have epilepsy.
sets a particular criterion in able to meet the
That is why the respondent’s statement
desired outcome when it comes to selecting the
proved that in the third generation, she was
units of the participants that are to be studied.
one of the affected person by that disease.
Subject was selected because of some
She even mentioned when she was first
characteristic.
experienced her epileptic disease and that was
For this technique, the researchers
when she was nine years of age. She narrated
were seeking for the data needed in this study
that it was late midnight when she was got the
were gathered through a triangulation method
first attacked with blood in her mouth, foaming,
which refers to the combination of the three (3)
while she was sleeping. She was able to hear
methods to gather data: 1) Observation, 2)
her relatives panicking while looking at her that
Interview, and 3) Questionnaires. Semi-
time.
structured interview was used that include
“Tulog ako nun mga 12 midnight nang
ready-made questions that were relevant to the
marinig ko sina mama na nagpapanic at
study and gave prior to the participant classified
nagsasabing, ‘hala bakit bumubula yung bibig
as: A. Experience Questions, B. Opinion
niya at may mga laway na may dugo dugo na
Questions, and C. Feeling Questions. With this,

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lumalabas’ Wala akong malay nun, basta black
out pero naririnig ko sila.”
This statement made the researchers
understood the nature of the respondent’s
illness. In addition the respondent was also
asked if she knew the type of epilepsy that she
experienced then she added,
“Di ko sure pero isang beses lang kasi
nangyari yung attack tapos wala nang
sumunod”
In idiopathic generalized epilepsy, there is
often, but not always, a family history of
epilepsy. Idiopathic generalized epilepsy tends
to appear during childhood or adolescence,
although it may not be diagnosed until
adulthood.
“Yung mga nafefeel ko nalang nun is
ano nalang, parang yung feeling na ayun baka
atakihin naman ako kasi nga nahihilo, parang
ganon”
According to the study of Shorvon,
Andermann, and Guerrini (2011), idiopathic
generalized epilepsy is the most common form
of idiopathic epilepsy. The clinical presentation
is distinctive. In the core syndrome, seizures
take the form of eye deviation, nausea, retching
and vomiting, with subsequent evolution into
impaired consciousness and then clonic
hemiconvulsions in 25% and convulsions in
20%. They are often nocturnal and awareness
may or may not be altered. Other autonomic
features occur including incontinence of urine,
pallor, hyperventilation and headache.
Typically the seizures are prolonged,
often lasting several hours. The syndrome is
often misdiagnosed as a typical migraine, but a
careful history will usually make this distinction
clear.
In able to lessen the severity of this
epileptic disease, the respondent mentioned
some of her antiepileptic drug that she intake
during that time and the two most common of
her medication was the trileptal (500 mg) and
phenobarbital. She stated the in phenobarbital
medicine, she achieved the epileptic free
condition.
4
In terms of diagnosis of her epileptic
disease, the respondent mentioned that as they
arrive in the nearest hospital of their
community, the doctor tested her with EEG and
MRI to know what type and how severe her
epilepsy is. Since the doctor found out that it
was an idiopathic generalized types of epilepsy,
certain epileptic testing was performed to her.
“Wala namang surgery, tests lang meron, bali
dalawa yon. Yung unang test na binigay sakin is
EEG, tapos doon kinakabitan ng wire sa ulo.
Basta ganon, tapos after nun, malagkit sa ulo
sobra. Tapos papatulugin ka kasi titignan yung
mga electric shocks sa utak. Ayun, ilang beses
akong naganon. Yung isa naman, isang beses
lang, yun yung MRI. Nag test ako nun para
makita yung, yun nga na baka may something
sa utak ganun na bukod sa epilepsy or seizure
baka may iba pang cause.”
In this type of epilepsy, no nervous
system (brain or spinal cord) abnormalities,
other than the seizures, can be identified on
either an EEG or imaging studies (MRI). The
brain is structurally normal on a brain magnetic
resonance imaging (MRI) scan, although special
studies may show a scar or subtle change in the
brain that may have been present since birth.
People with idiopathic generalized
epilepsy have normal intelligence and the
results of the neurological exam and MRI are
usually normal. The results of
electroencephalogram (EEG- a test which
measures electrical impulses in the brain) may
show epileptic discharges affecting a single area
or multiple areas in the brain (so called
generalized discharges). (Steinlein, 2004)
CONCLUSION
Epilepsy syndromes are recognizable
clusters of signs and symptoms with a
predictable prognosis and, sometimes, a
defined cause. The researchers learned that
there are types of epilepsy that can be inherited
and this is called Idiopathic epilepsy. The
researcher focused on this type of epilepsy and
gained knowledge about Idiopathic Epilepsy.
 The researchers attained a lot of
knowledge about the experiences of a person
living with epilepsy. Also, the researchers
learned how to handle the people with this
disease, how they must be treated, and how to
respond on those cases. The prerequisite for an
accurate assessment of the prognosis of treated
epilepsy is the inclusion of patients at the point
of treatment initiation with prospective follow
up.
The obtained insights of the researchers
from the respondent gave and created an
impact which implies to the experience of the
participant having the disease. Relating with the
experience of the participant, when she had an
epileptic incident, she was required to go
through lots of tests that would be processed
and diagnosed in which could possibly be
dangerous when done from the basing of the
results, especially for this kind of person that is
younger. This research would most likely alter
the thinking of people relating to a person that
has an epilepsy.
www.aboutkidshealth.ca/En/ResourceC
entres/Epilepsy/AboutEpilepsy/AnOver
viewofEpilepsy/Pages/Genetics-of-
Epilepsy.aspx
Shorvon S., Andermann F., and Guerrini R.
(2010). The causes of epilepsy: common
and uncommon causes in adults and
children. Cambridge University Press,
Cambridge 2011.
Steilein O. (2004). Types of Epilepsy. Nature
Reviews Neuroscience 5, 400-408 doi:
10.1038/nrn1388 retrieved from http://
www.nature.com/nrn/journal/v5/n5/fu
ll/nrn1388.html
Vollmar, C., Koepp, M.J., (2012). Frontal
lobe function and structure in juvenile
myoclonic epilepsy: a comprehensive
review of neuropsychological and
imaging data. Epilepsia 53, 2091–8.
doi:10.1111/epi.12003

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