mentioned since 2008 I’ve had to do it
differently because I’ve got a medical
condition that was inherited called
acute intermittent porphyria so I was
once described by pain specialist has
been having dealt a really bad hand of
cards but that was doing the very best I
could with the hands that I’ve been
dealt and I think that this kind of my
approach to things comes from the fact
that I’m a firm believer in that if you
want to do something you can do it if
you try try and try and I don’t know if
anybody’s heard have kind of Robert the
Bruce and if first you don’t succeed
then try try trying and you might do it
was kind of something that was said
quite a bit in my family when I was
younger I also think that the difference
between success and failure is that if
you fail at something or the difference
between people who succeed is that you
will keep trying until you get there and
you don’t mind if you fail you’re going
to get where you want to be so what I
want to give you an idea of is I’ve got
a really rare medical condition and I am
one in 9,000 people
Wembley Stadium on a match day has nine
thousand people in its crowd I’m just
that one person with this condition I
really am a needle in a haystack
bro which think of not just 90,000
people not 180,000 not 270,000 not 360
but 450,000 people I’m one of only four
hundred and fifty thousand people in the
UK who was affected as severely as I am
so what is porphyria
it is a medical condition that
predominantly is inherited there are
eight different types of porphyria
classified as acute porphyria cutaneous
Porfiry’s which also affect the skin and
a mixture of both I’m just going to talk
about acute intermittent porphyria which
is the type of porphyria that I have so
I’m going to give you a very kind of
condensed insight into what the triggers
are what the symptoms are and how I’m
affected with the condition so the
differ a lot of different triggers and
once you’re triggered with the condition
an acute patient you then go on to have
more symptoms so I had genetic testing
when I was only 15 but didn’t develop
symptoms till I was age 27 so what are
these triggers they involve various
things from unsafe medications alcohol
so I can’t drink lots of other things
from stress fatigue viruses other
illnesses anything really that puts the
stress or a strain on your body can have
an impact on me so what are my symptoms
I suffered with acute pain quite a lot
of the time I’ve got pain now even
standing here in front of you all I
suffer with nausea and vomiting and any
pain medication sickness medication to
manage this there’s also the things I
get weakness I get confused at times and
when if I have a severe attack that goes
untreated I would get permanent nerve
damage that would cause paralysis and if
a series of attacks went untreated it is
life-threatening so one of the things
which I think it’s interesting to kind
of mention is I’m stood here before you
and I probably looked perfectly fine to
all of you it’s also known as an
invisible disease so really sorry to do
this but this is sort of my urine
both of these samples were taken at
exactly the same point sample a was
protected from light and put in the
freezer you can see it already has a
slightly peachy pinky hue to it but the
poor friends which are present in my
urine when exposed to light they change
color and it’s just quite a nice visible
it’s kind of sign to kind of show you
that it there there are some signs even
though you might not sort of be able to
see them so in terms of my medical
history I’ve ended up in the early
stages I used to have to go into
hospital very regularly for treatment so
every kind of four weeks than every two
weeks and I spent a lot of time going in
and out of hospital which was really
difficult I now I’m really lucky that
I’m under the National acute porphyria
service and I have an excellent medical
care of something called port cath which
is fitted under my skin which means I
can get treatments really quickly rather
than them having to use intravenous
lines on my veins on my arms which are
now quite damaged over the years of
intravenous use of medication so I saw
with pens I said regularly
I suffer with sickness but this
intravenous treatment that I have I can
now do at home and I have treatments
every seven to nine days I did an
infusion last night after the dinner
that we had here so it means that I’ve
got a lot more control of my condition I
really wanted to kind of also talk a
little bit about my sister Liz who has
one of the even more severe forms as
myself because they really struggle to
diagnose everything the early stages
because it is so rare and she was
completely paralyzed by the time of
diagnosis her and she’s been completely
paralyzed on numerous occasions and has
had to even relearn to walk had lots of
physio so I affectionately referred to
her by the Chumbawamba song from the
nineties if anyone remembers them took
something I get knocked down I get back
up again you’re never gonna keep me down
and that song really summarizes the kind
of person that she is and that has kind
of stuck with me because I’ve made about
try try and try and in my early days at
Koenig University I was 18 19 she was a
few years older than me and she was
experiencing this and I thought if she
can do that if she can relearn to walk
and deal with these challenges I really
couldn’t do anything I shouldn’t be
scared of the exams I’ve got so on my
way to my exams at university I would
sing the Jimmy Cliff song you can get it
if you really want but you must try try
and try and this badge is something that
my sister gave to me on my first
graduation and to say that I did it and
I did it good and I’ve kept it all of
these years or so I also think the
thought comes a little bit from the fact
that my family have always said that all
my mum’s always said was you know it
doesn’t matter where what you do in life
as long as you work hard I’ll always be
proud of you and I think that ethos has
stayed with me throughout my work life
and my career and academic life as well
that was always described as being
conscientious I’m trying so I now want
to talk to you a little bit about kind
of what it’s like to have
porphyria and I’m jumped ahead I’m so
sorry so I never thought as a result of
my condition I would have to change the
way that I worked from a really good
career that was developing nice
to be million redundant to then have to
go onto benefits to then own to be able
to work part-time in a self-employed
capacity I never thought that I would
have to go into a wheelchair I never
thought that I would have to have
something called a podcast I never
thought that I’d be strong enough to
access this podcast myself I never
thought that I would have to campaign
for rare diseases and research and to
condition that I have I never thought
that would have to have IVF to become a
mummy and I honestly never thought that
I might be able to become a mummy so in
terms of my work I was made redundant
but I took some time out and a retrained
to be proofread a copy editor I also
have a very small photography business
that developed more out of a hobby and I
now I’m privileged to say that I work
for the British Porfiry Association
which are volunteered for in 2009 and
now work in a part-time capacity I
really love what I do we work supporting
other patients with a condition we
helped support education and research
and I really feel that I’m actually
giving back and doing something to help
people who were experiencing what can
only be described was a terrifying time
when you’ve been newly diagnosed I also
had to go in a wheelchair after her
series of bad attacks in 2008-2009 I
couldn’t walk very far at all because of
weakness and nerve damage so I had to go
in a wheelchair and I found that really
hard mentally to do but I want you to do
things so in order to do them we did it
and I’m pleased to say that I did and
that I managed today and build my
strength back up I’m now kind of back to
full strength again so I never thought
I’d have something called a port calf
and this is a picture of the day that I
had my pata capitaine and then a few
days later I do bruise like a peach but
I thought include the pizzeria it really
wasn’t as bad as it looks so this means
that I can then have direct access to
the treatments that I need and it’s so
much less painful than with them having
to try and find veins I thought I’d
explain a little bit about what a
treatment is like so this is me my
living room creating a sterile field
because it’s got to be done in a sterile
ware and then with me cleaning the poor
area and then me once I’ve put my needle
in which is called a gripper needle
then drawing up the he margin which is
the treatment which I have every seven
to nine days and which keeps me well and
it’s black in color and my mom calls it
miracle juice because it’s kept her dude
two daughters well and then we sat in my
living room having my infusion you know
do it so I really wanted to also talk to
you a little bit about rare diseases so
I now comparing for rare diseases and
research because it’s so important as
part of the condition that I’ve got on
the 28th of this month so in only four
days is national rare disease there and
as part of the work that I do for the
charity will be helping to campaign help
with promoting that have been here
talking as well because collectively
there were more than six thousand rare
disease diseases but individually
porphyria is just one of them and most
of you in the room probably never heard
of porphyria so together we’ve got a
much stronger voice I’m also campaigning
for research because ultimately cure
will help make my life and my family’s
life so much different so I also
mentioned that never thought I’d have to
have IVF and never thought that I’d
become a mommy so in 2013 my husband and
I embarked upon what can only be
described as a positively grueling and
difficult journey to go on but we had an
amazing doctor fertility doctor and my
porphyria specialist that worked
together to develop a series of forms of
natural IVF because I can’t have any of
the normal medication routes that you
can normally have as a result of my
condition devastatingly the first
attempt of IVF failed but on our second
round of IVF I’m really pleased to say
that we the wife jumped too far
I’m so sorry I would just said that as a
result of email to access my own podcast
I can now travel and I can do things I
want which has given me the freedom to
do things like go snowboarding again go
on holiday to places like for our
honeymoon Las Vegas in America I’ve done
my treatment in tents in France and in
other places like Amsterdam so this is
just before our first and we had the
opportunity to go for an embryo transfer
and the phrase never putting all of your
eggs in one basket has never room to
true so few weeks later my husband was
ecstatic to be able to finally arouse to
the world be a baby and real very at our
12-week scan we obviously got the great
news that everything was going fine so
we were nervous throughout the pregnancy
because I’ve got a health condition we
had close monitoring but I am really
delighted to say that my little baby
daughter who was born at 5-pound 2-ounce
on the 11th of January 2017 three weeks
early and here we are as a family as
well I really am the proudest mummy in
the world I’m so lucky so I only say
that I never thought I would be on my
way
I really didn’t it was such a difficult
time to be going through and my heart
truly breaks for all of those people who
were embarking on that journey or who
were really struggling those couples
like going through things so what I
would really like to do now is do my
call to action if there is something in
life that you want to do or even that
you have to do because you’re facing
something truly on one things we’ll try
and dig deep and think you can get it if
you really want to think back to the
song which I said you can get it if you
really want but you must try even if
it’s completely unthinkable or too scary
to contemplate this belief in the
ability to succeed has fueled me through
out living with a rare disease like
acute intermittent porphyria ultimately
I’m motivated to campaign for rare
diseases and research because it isn’t
just me who’s affected there’s also my
sister and my gorgeous nephew Thomas my
beautiful daughter
Abbey who all have this gene as does my
brother
I was pictured my mom there as well with
us all we all have this gene and I’m now
compared in with the work that I do as a
charity but also selfishly for myself
because it isn’t just about me it’s
about my nephew and my beautiful
daughter I want to make sure that
they’ve got every opportunity in life
and that they don’t need to adapt in the
same way that I’ve had to follow their
dreams
not that I’d really change anything
really I am where I am and I do what I
do with the charity as a result of the
gene that I’ve been given and I really
wouldn’t be here talking to you all if
it wasn’t as a result of this poor fairy
gene I have had to do it differently as
a result of the condition but I’d like
to say that don’t be afraid to do it
differently I’ve had to and I will
continue to do so
so I’d like to say whenever you think
that you can’t run that mouth and turn
it on its head think you can think
instead as well I will pass that exam
and I will get that job that I want even
if you have to do it differently you can
get it if you really want but you must
try you’ll succeed at last thank you
very much everybody [Applause]