Today the 28th of February is the 2nd
annual Rare Disease Day.
What is Rare Disease Day?
Rare
Disease Day is an annual, awareness-raising event co-ordinated by EURORDIS at
the international level and by National Alliances and Patient Organisations at
the national level.
The main objective of Rare Disease Day is to
raise awareness amongst the general public and decision-makers about rare
diseases and their impact on patients’ lives.
The campaign targets primarily the general public
but it is also designed for patients and patient representatives, as well as
politicians, public authorities, policy-makers, industry representatives,
researchers, health professionals and anyone who has a genuine interest in rare
diseases.
Since Rare Disease Day was first launched by
EURORDIS and its Council of National Alliances in 2008, more than 1000 events
have taken place throughout the world reaching hundreds of thousands of people
and resulting in a great deal of media coverage.
The political momentum resulting from the Day has
also served for advocacy purposes. It has notably contributed to the
advancement of national plans and policies for rare diseases in a number of
countries.
Even though the campaign started as a European
event, it has progressively become a world event, with over 70 countries
participating in 2013. We hope many more will join in 2014. Our objective is
for the WHO to recognise the last day of February as the official Rare Disease
Day and to raise increasing awareness for Rare Diseases worldwide.
About our partners
Use the link and GET INVOLVED http://www.rarediseaseday.org/
15,000 People Worldwide Have
Friedreich's ataxia. I am 1 of them Move YOUR Way for Rare Disease Day
My Story
My story in my own
words…
Hi I’m Justin Damien Scrimaglia and I was born on 31st
August 1987 in Bournemouth. I don’t really remember much of being a baby but
hearing the stories and seeing the pictures, I was a fat little lazy baby that
liked to sleep a lot. I looked like a Buddha, and this is how I found Enlightenment
I’m 25 years old and I have been living with FA for over 10
years now but I was born with it.
Early days…
When I was 2 we moved to Wales (we being my mother, step
father, older brother and younger sister) we moved to this little village
called Ffarmers. It was a fantastic place to grow up but quite early on as
child I knew within myself I was very different to other children. As a child
all the signs and symptoms of FA were there, just no one picked up on it. My
family just thought I was a clumsy kid because my mum was like that as a child,
clumsy and always dropping things. My
mum doesn’t have FA but she and my real dad are both carriers of the FA gene
that’s how I ended up with it. I think I was around 7 or 8 and it was Christmas
time and the lights on the tree at school led me to have a fit, my mum said I
had one as baby and I went all stiff like a rock. So as a kid in Wales I was
going to hospital a lot and having tests done to find out if it was Epileptic
fits I was having. I used to have wires glued to my head and I had to do memory
tests and things like that. Those doctors in Wales said yes it was Epileptic
fits and wanted to diagnose Epilepsy, they wanted to prescribe medication but
my mum wouldn’t agree to the diagnosis. Knowing I have FA and not Epilepsy nor
was it Epileptic fits that I was having they was very strong muscle spasms. We did find out that I am highly dyslexic,
just one more thing to add to the list.
At this point I should add my older brother who is almost 4
years older than me and we share the same dad, he doesn’t have FA well he’s not
been tested but will most likely be a carrier of the gene. And my younger
sister by 18 months who has a different dad, she did get tested and doesn’t
have FA or carry the gene. The reason I say this is because they become key
parts of the next part to my story.
School…
So I had just started secondary school and my older brother
(Marcus his name is) was a fantastic runner smashing records that had been set,
and my younger sister (Danielle) who wasn’t even at the school yet was a
fantastic gymnast, and where we lived
wasn’t a big place so everybody knew everybody. So with me coming up the sports
teachers were like’ a brother and sister like that he’s the middle child he’s
got big shoes to fill’. And with me being very clumsy and very much
uncoordinated I was really bad at sports even though I tried my best. I
remember this one time we had to run cross country and like most running I
would come in last and on the route back to the sports gym we had to run up a
bit of a hill, well I wasn’t running I was walking up it, and at the top
outside the gym stood were all 4 of the sports teachers just staring at me and
saying ‘well your nothing like Marcus or Danielle are you’. I just looked back
and said I don’t want to be like them I’m me, but it really hurt me that did,
and as I was changing from my sports clothes into my school uniform I even had
a cry. I remember going to my first parents evening with my mum and we sat down
to the table with the P.E Teacher, (the main sports teacher). We sat there and
he started talking about Marcus but my mum stopped him and said ‘I’m not here
to talk about Marcus I’m here to talk about Justin’ and then he just looked at
me, and said ‘what can I say he tries’
It wasn’t all doom and gloom living in Wales; I had some
good times in the 11 years in Wales. We returned to Bournemouth just before I
turned 14, as my mum and step dad split up. I guess things with FA were really
starting to show by now as a few of the kids in my old school in Wales had
started to call me penguin because I waddled like a penguin when I walked. And
I should say my Nan and Granddad lived in Wales too and they moved back to
Bournemouth about a year before we did, so it was only right that we would
return to where our family was.
Back in Bournemouth just before my 14th birthday
and I hadn’t seen my Nan in over a year and it was her that took my mum aside
and said ‘you need to take that boy to see a doctor something’s not right’, and
that’s what we did.
Diagnosis…
It took about a year of seeing doctor’s and having tests
done and blood tests, and then we got to
see the Neurologist Dr Neil Thomas who told us ‘we are going to
find out what’s wrong with you’. September 11th 2002 I was
diagnosed with Friedreich's Ataxia I had not long just turned 15.the I
remember walking into that room Dr Neil Thomas was behind his desk, and there
were other doctors in the room too who were part of his team, so we got to know
each other and then he began to talk, and they said ‘we have the results back
we now know what it is, you have Friedreich's Ataxia’. I was like ‘wow what the
bloody hell is this’, then he started going into it with all the doctor terms
and using big fancy words, which I then I stopped him and said can you explain
it in a way that I can understand please, and he looked at me and said ‘I won’t
lie to you but by the time your 18 you’re going to be in a wheelchair’. That
news broke my heart I began to cry I got up and walked out, in the car I was in
bits crying and sobbing, my mum was there giving the old ‘everything going
to be ok’ speech, but I was having none
of it. As far as I felt my life had ended that day, I saw Dr Neil Thomas a lot
after that but I had a huge grudge against the man not for telling me I had FA
but for the way he told me. Looking back on it now I guess he was just doing
his job, and I guess he thought I could handle the direct
route but I wasn’t like other 15 year old lads, I wasn’t mature enough or ready
to have the truth bomb dropped on me like that at that age.
Life
with FA had Began…
The early days of having FA were very hard
for me; I was seeing so many doctors, having to go to Southampton every 3
months to see the spinal specialists and heart team. See FA comes with added extras like scoliosis
which I have and heart problems which I have, I have Cardiomyopathy which means
my heart muscle is thicker and that’s what leads to heart disease. Heart
disease is the number one killer for
FA’ers, so at 15 I had a lot to take in and deal with which I can say I didn’t
do, what I did in those early years was hide away from FA. I felt like whatever
direction FA was heading in, I was running in the opposite direction. I put a brave face on for all those around me
but on the inside it was my own personal hell, I kept a lot of the things
bolted up and would tell anybody anything about me having FA, I just acted as
if I was normal and everything was fine, but it was far from fine and I was
anything but normal.
I gave up on school, just didn’t see the point in it as I
thought that nobody would give me a job when I was older and I missed a lot of
school as I was at hospital 3 sometimes 4 times a week. I became very depressed with having FA , but
on the inside I never showed it, I use to think loads of times about ending my
life, I gave it a shot once I had a glass photo frame in my room and I put my
knee threw it and took one of the Sharpe broken bits and began to cut into
wrist. Silly I know luckily it hurt way
too much and I didn’t go too deep. After
that I felt really stupid and my mum saw what I tried to do and I’m not sure
what she thought of it but she was like ‘your silly’ and yes I agree with her
now, it was silly.
Every cloud…
And then I fell in love with Rock N Roll and Metal music
probably because of how I was feeling at the time, but to me it felt like
home. I found a place where I belong,
the music really helped me out as I didn’t speak to people about how I was
feeling , so if I was feeling angry I would
put on some Slipknot or something heavy and it would just help. My very first gig I went to was Motorhead,
super heavy and a great night.
At this point in my life I had finished with school and done
my GCSE’s ,not that I passed any of them with great grades, as I said earlier I
gave up on school. I did a bit of
college after school but I didn’t stick to it, being dyslexic I really
struggled with learning new things.
The doctors told me by time I was 18 that I’d be in
wheelchair, well I had my 18th birthday and it was wheelchair free,
I held on and went into a wheelchair full time at 19. I held on just so I could
stick it to the doctors, even though I should have gone in a chair sooner. That
last year was a tough one I was falling over a lot twisting my ankles cut knees
and lots of bruises. I always knew my walking was bad by the amount of staring
and looks I got when I was out, one day when I was in Sainsbury’s supermarket
looking at the magazines, and the store security guard came over to me and
asked me if was drunk. I said no I have this illness and walked off, I was out
shopping with my mum at the time and I told her and she wanted to knock the
security guards head off, my mum was really mad and upset that he would ask
such a thing. My first wheelchair was a big NHS tank really heavy, blocky so my
mum and her friends set up a fund raiser Jump4Justin where friends of ours did
a sky dive to raise money to buy me a lightweight wheelchair, which was
achieved I got the lightweight wheelchair when I was 20. I am now 25 and I am
what you call a late bloomer because I am still growing and that lightweight
wheelchair is too small now and I have had 2 operation’s on my feet in the last
year and a half and I can’t use my lightweight chair anymore. I am back in a
NHS tank but it’s only temporary while I heal up from the ops.
I found out I had FA at 15 but I’d say it wasn’t till I was
21/22 that I became really comfortable with FA. And now I can talk open and
freely to anybody it, how this happened was one day out of the blue I picked up
a copy of Ataxia UK magazine which my mum has been subscribing to since we
found out I had FA. And before this day I had never read it I’ve flicked
through old mags and had my mum and Nan show me things, but this was the first
time I sat down probably and read it for myself. And it had this guys story in it I forget his
name but I remember reading his story and it just spoke volumes to me, I was
like this is how I want to live my life. I wish I could remember his name and
meet him as I would shake his hand and thank him for changing my life. I remember
it ending with so you have FA but there is life after finding out you have FA.
So after that it was big wake up call for me and I started reading more of
Ataxia UK and I started reading about people with FA training to become doctors
and things and it’s was like ‘wow some hope’.
After I had my life changing experience I decided to get a
tattoo to complete the journey. I have a left sleeve tattoo which is a phoenix
starting at the top of my arm and then going down my arm and joining
the words ‘Family’ which I have inked on the inside of my forearm, I also have
5 cherry blossoms. It’s a Japanese style sleeve so it’s big, bright and very
colourful. It was done by the amazing Emma Garrard right here in Bournemouth,
she is a very talented tattoo artist. So the reason behind my tattoo of a
phoenix is that it signifies my new life by arising from the ashes of its
predecessor, so I got a phoenix to represent my old life ending and my new life
just beginning. The words Family and the 5 cherry blossoms, are there for my
Family who have stood by me throughout all my ups and downs in life, and
without them I don’t know where I’d be. And the 5 cherry blossoms are for the
most important people to me; my mum, nan and granddad, brother and sister. It’s
one of those wear your heart on your sleeve tattoos and is also mixed in with
the meaning of change in life.
I am a big believer in when there is will, there is a way.
For example back in 2011 I got ask if I would like to a skydive to raise funds
and awareness for Ataxia UK. And I said yes I was well excited for it, and then
we ran into some roadblocks. See I was going to do the jump as part of a group
and we were going to do the jump from this airfield up north it was up near
Manchester and I live south in Bournemouth. I remember talking to the skydive guy on the
phone and as I am in wheelchair and lived so far away problems got in the way,
they said they would take me but I would have to travel up there, only they
could say no if I didn’t meet all of the conditions. So I was not willing to
risk going all that way just on a maybe. I have to say I was pretty upset I was
really excited on the possibility of doing a skydive. Remember I said friends
of ours did a skydive to raise money for me for a wheelchair, well my mum said
let’s start looking into where they did it and see if they will take disabled
people. And that’s what we did Skydive Netheravon: Home of ARMY parachuting (http://www.netheravon.com). We spoke to
them and they said they would take me, if I could get a doctor to sign off on
the medical form, at this time I was taking a long needed break from seeing my
doctors, I was hiding from them. Netheravon said a GP doctor would be fine. So
me and mum got an appointment set up to see the GP and when we saw him he said
‘how can I help’, we explained and he looked over my notes and saw I was under
a big team of doctors. And was like so is the spinal and heart team all fine
with this and me and we were like yes they said you only live once make the
most of it. Even though we had not even seen another doctors about it so we
blagged it. I got to do a tandem skydive on the 2nd of October 2011
on the 3rd time of going to Netheravon the first time got called off
due to bad weather. The second time my 75 year old granddad who jumped with me,
the doctors messed his paper work up they said I could still jump but I turned
it down as I wanted to do it with my granddad. So 3rd time lucky and
we both got to jump it was a lovely, clear and sunny day that we got to jump
on. It's a hard thing to describe a skydive it’s a rush and amazing it’s just
one of those things you have to experience you have to try for yourself. I
loved every minute of it and I have said ever since if the opportunity comes knocking
again I’d be there in a heartbeat.
I’m lucky really because with FA comes is a lot of big
operations like the metal rods in your back, some FA people have ribs removed
the list goes on. That’s where I am
lucky I have been diagnosed with having FA no for over 10 years and So far I
have had 2 op’s I have Spoke to much younger people with FA who have already
had much more operations. It’s sad but that’s
how FA works it effects every person differently yes if you are a FA
member we will all have very similar symptoms but FA will affect us all in
different ways.
Feeling positive
I guess I was always destined to go down this path in life.
It’s my destiny to take this journey, I’m like Clark Kent in the TV show
Smallville and his journey to become Superman. OK so I’m not saying I am
becoming Superman, but I do feel strongly that this is what and the way I was
always met to be. I was manufactured this way and going through life has helped
and shaped me to become the person I am today, and for that I wouldn’t change
anything throughout my life, not even having FA.
For my future I’m not sure what it will hold for me or what
FA has in store, I will cross that bridge when I get to it. What I want to do
is to get into is counselling/mentoring, so I can try and help people who
struggle with FA to get from where I have been to where I am now feeling good
and positive about life with FA. Hopefully I can get that started this
September I’m looking to go to back college for it.
So I guess that will
wrap it up for my story I hope you enjoyed it.
So it’s going to have to end with a To BE Continued........... Keep it
locked here to find out how I get on with everything else in my life.
Thanks for reading.
I know it’s a long
but if you have read all this and you’re still with me then a massive THANK YOU
to you, together we have just raised awareness for Rare Disease Day and FA.
Now please go and SHARE the Hell out of this on All social
media outlets and Together lets Raise some more Awareness.
Many thanks
Justin :-)
