Tuberous Sclerosis Australia Reach Out Magazine October 2016

Personal Stories
Personal Stories
Sophie’s Story
Georgina Schilg, Sophie’s Mum
Ariela’s Story
Chelli Edri, Ariela’s mum
Ariela was suspected of TSC at birth due to multiple white
patches (hypomelanotic macules) on her skin. She wasn’t
presenting with any other symptoms and TSC wasn’t even
mentioned until she was about eight weeks old. It was really just
a waiting game to see what would present.
When Ariela was three months old her kidneys were checked
and all was fine and talk of multiple birth marks started. At six
months, a heart tuber was found. I sought a second opinion on her
skin and consulted a geneticist on the possibility of TSC. Because
Ariela seemed perfectly healthy, I had to wait until she was over
two for an MRI to confirm if it was in fact TSC or not. At 2.5
years, the MRI confirmed tuberous sclerosis complex with the
presence of a SEGA and tubers.
One of the hardest things I have found with TSC is not knowing
how things will play out, and at the same time, knowing I am
making potentially life changing decisions for my child. It’s a huge
responsibility. I have to weigh up impacts on her quality of life with
potential benefits of treatment.
For any parent with a child presenting minor or occasional
seizures who meets all their milestones it is hard to know the best
course of action and even harder for specialists to advocate one
option over another. While medication was presented as a possible
option as soon as the SEGA was discovered, at the time it was a
borderline option due to minimal symptoms; so at that point, I
chose to protect her quality of life.
From the very day Ariela was formally diagnosed, I stopped
leaving her in the care of paid babysitters and became extremely
careful who, out of my close family and friends would mind her
when I wasn’t around. Having a child who may be having seizures
is a massive responsibility especially as some of the seizures are
hard to identify. This puts a lot of pressure on any carer.
As Ariela has gotten older, she has developed mild autism
yet seizures are rare. For this reason, I still feel as if I am in the
calm before the storm and we are waiting for our next EEG to
see if there is new seizure activity or not. I say we, as when you
are a parent, what happens to your child is actually happening
to you at the same time.
TSC also becomes tricky when considering how much
information to disclose to daycare providers. I still remember
One of the hardest things I have
found with TSC is not knowing how
things will play out
the day I explained to the staff at her current daycare what
TSC was, what a possible seizure might look like, and that
they could call me any time if they suspected anything. The
Director initially was quite concerned and, as a result, I spent a
lot of time being available and around when she first stated to
make sure the staff were ok with her. I still spend time there on
a regular basis.
Ariela is a very happy little girl who is always laughing
and really enjoys life. She is not old enough to know about
her condition, so for now I’m just thankful hospitals have
such great play areas and toys. I hope we never get to the stage
where we need to consider medication or surgery however as
optimistic as I am, I realise if seizures become frequent or if
our next MRI shows her SEGA has grown, we will have to. So
right now we are in the calm before the next TSC storm, and
have no idea what the future holds.
Our Sophie is eight years old and began having seizures at
nine months of age. These were our first indication that
something was wrong and so began our journey into the world
of Tuberous Sclerosis Complex and Epilepsy. Since then Sophie
has been on several different medications to control her seizures,
had multiple EEGs, done several video EEG stays and has had
neurosurgery to remove several tubers.
We live in northern Tasmania, where there are no resident
paediatric neurologists. For the past three years we have gained
the services of a paediatric neurologist based in Hobart who
travels to Launceston every so often, and prior to this we relied on
neurology clinics at Royal Children’s Hospital Melbourne. Thus
we have made many trips to Melbourne for various appointments,
reviews, tests and surgery.
Sophie is aware of her seizures
and has an aura before the onset of her
regular seizure type.
Sophie suffers complex partial seizures. Medications control
her seizures quite well at present, and she is lucky in that she
does not suffer too much from the potential side effects of these,
although it is something that we continue to observe for. In
particular we continue to have regular ophthalmology reviews
and yearly electro-retinography to monitor any decrease in her
visual fields as a result of one of the medications she takes, called
Sabril (vigabatrin).
Epilepsy is something we live with every day. We are very
thankful that Sophie is happy to take her two medicines twice
each day. We talk to her younger brother about Sophie’s seizures,
about seizure safety and how he can help her if need be. Sophie
is aware of her seizures and has an aura before the onset of her
regular seizure type. Sometimes when tucking her into bed, she
will ask if she will have a seizure that night, and comment that she
does not like seizures. These questions are hard to answer – there
is no knowing when the next seizure will be, or how long it will go
for, and yet she remains brave and simply gets on with life.
Sophie’s epilepsy means that I am extra cautious about
leaving her places, as I need to ensure the other responsible adults
are aware of the potential for a seizure, and to ensure that they
are confident in managing this. It also means I am particularly
cautious with activities such as swimming. However, Sophie’s
epilepsy and TSC does not stop her from trying most things.
She loves riding her bike and scooter, enjoys dancing and
running and will give anything a go.
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Reach
Out
OCTOBER 2016 ISSUE 104
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