Reach Out April 2019

TSA News
Everolimus has given us so much.
The reduction in Emily’s seizures has
given her cognitive awareness, and the
reduction in her tumours has increased
her life expectancy and we expect that
it will have reduced her chances of
developing lymphangioleimyomatosis
(LAM) as she gets older.
Emily picking up her script for everolimus with her mum Dawn
Emily had side effects, both positive and negative, from being
on the medication. This included mouth ulcers, a common side
effect of the medication, which we managed with frequent teeth
brushing. Emily also had poor healing, frequent infections and
constant hay fever. I think her system became hyper-vigilant to
anything that might cause infection. Taking a break for around five
days helped with infections or when Emily needed to have surgery
for something else. Emily’s white patches also started to shrink and
her angiofibromas started to disappear. Her MRI showed that her
kidney and brain tumours were shrinking.
We’ve seen Emily’s awareness increase, which has been great,
but it has also brought a few new issues. Because Emily is having
less seizures we’ve seen her speech develop and she’s also started
communicating her needs and choices using her iPad. We’ve seen
even more of her dark sense of humour as she’s emerged from
what, I imagine, was a fog of seizures. She’s always had echolalia
and echoed unusual accents. Now she’ll comment directly on
funny accents and even refers to one special doctor as “funny
doctor”. She’s even learning to read. Everolimus has given us so
much. The reduction in Emily’s seizures has given her cognitive
awareness, and the reduction in her tumours has increased her life
expectancy and we expect that it will have reduced her chances of
developing lymphangioleimyomatosis (LAM) as she gets older.
The flipside of Emily’s increased awareness is increasing
anxiety, which has introduced new challenges and
medications into the mix. We continue to face huge
challenges finding mental health services to help
Emily with these issues and, as she is getting
bigger and stronger, this can lead to others
being hurt when she isn’t coping.
We’ve gone from yearly MRIs to only
needing to wrestle her down for this once
every three years. I am 150% happy with
what we have done. Even though it meant
we have had to experiment on Emily, for us the pros outweighed
the cons. Emily will never go to university to get a degree, but she
is a pioneer in medical research for TSC and this is her professional
contribution to our society.
It is a difficult decision for any TSC family to make to try
this medicine. I would encourage others to make the decision as
a whole family and with the help of professionals. Consider the
possible outcomes for your family member with TSC. We felt we
didn’t have a choice as Emily had no other options. We also sought
the help of a counsellor to help our family make this decision.
I think it is wonderful that we don’t have to find the money to
pay for this medicine ourselves. I think the majority of Australian
families would really struggle to cover the cost of the medicine. It
won’t work for some people but I’m sure it will improve the quality
of life for the people it does work for. The federal government’s
decision to include this medicine on the pharmaceutical benefits
scheme (PBS) says to me that they want the best outcomes possible
for Emily. Emily is so lucky to have TSC in Australia.
Without TSA’s representation and advocacy in the PBS listing
process, I am not sure if a decision would ever have been made.
There are thousands of genetic conditions and we need TSA to
get behind the issues that affect the Australian TSC community
and change lives for us and also for the Australian children
children yet to be born with TSC.
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