Saturday, May 18, 2013 is Friedreich's Ataxia Awareness Day

Today, Saturday, May 18, 2013 is Friedreich's Ataxia Awareness Day for our brothers and sisters across the big pond in the USA. Please take a few minutes of your time to read up on this and help us to Rise Awareness for Friedreich's Ataxia. Thank you.

Today, Saturday, May 18, 2013 is Friedreich's Ataxia Awareness Day, which is recognized each

year on the third Saturday in May. Beginning a dozen years ago, various members of the U.S.

Congress and various state legislatures have proclaimed and marked the

third Saturday in May as

the day on which we annually recognize the increasing importance of building awareness and

understanding of Friedreich's ataxia and committing ourselves to treating and curing this disease.

Friedreich's ataxia is a rare, life

-

sho

rtening neuromuscular disorder that is usually diagnosed in

childhood. It is one of the 7,000 rare diseases that afflict a total of about 30 million Americans.

Friedreich's ataxia causes muscle weakness and loss of coordination in the arms and legs;

impair

ment of vision, hearing and speech; scoliosis, diabetes; and a life

-

threatening heart

condition. Most patients need a wheelchair full

-

time by their twenties.

There is currently no

treatment for this devastati

ng disorder.

In those early years when Friedreich's Ataxia Awareness Day was first proclaimed, far fewer

people were aware of the disorder, much less was known about it and hope was hard to come by.

Now, although there is still no treatment available at

this time, Friedreich's ataxia patients and

families have more and more reason for real hope and even confidence. An extraordinary

explosion of research findings followed the identification of the Friedreich's ataxia gene in 1996

and, since that discovery,

research scientists have learned a great deal about the disorder. We

now know what defects in the gene cause the disease, what protein the gene produces, what that

protein is supposed to accomplish, and why a shortage of the protein results in the cell de

ath that

leads to the disease symptoms. Scientific investigators are increasingly optimistic that they are

drawing very close to developing effective treatments.

In the United States and around the world, clinical trials in Friedreich’s ataxia are being

conducted on drugs that hold real promise. Intensifying collaboration among scientists and

medical care professionals, patient

-

advocacy organizations, government agencies and the

pharmaceutical industry provides powerful evidence of the tremendous progre

ss being made and

the growing hope, confidence and determination to conquer Friedreich's ataxia. There is a

growing conviction that treatments can and will be developed for this disease and that the

resulting insights will be broadly applicable across a w

ide range of rare and common

neurological disorders.

As in each of the last dozen years, multiple events will be held in communities across our

country this month to increase public awareness of Friedreich's ataxia and to raise the funds

needed to suppor

t the research that is so promising of effective treatments for this disorder. We

ask you to join the Friedreich's Ataxia Research Alliance (FARA), Friedreich's ataxia patients

and families across the country and around the world in recognizing May 18, 20

13, as

Friedreich's Ataxia Awareness Day and to show our concern for all those families affected by

this disorder and to express our support and encouragement for their efforts to achieve treatments

and a cure.

Thank you very much.

Now this video is from FARA its a few years old but its very moving and its powerful i am 25 and it  brought tears to my eyes the first time i saw it. http://www.youtube.com/watch?v=dBKEz952RY4 please watch it and check out my other stories on my blog.

Many thanks Justin

No more being Accident Free

Up till about 1 hour ago I was like Bruce Banner from the 2008 film The Incredible Hulk I was so many days accident free. I don’t know how many but I was on good run, until today I went in the shower. Everything was going good, when in the shower I use a shower chair. So I was just finishing up and I put too much weight on my left side and my arm rest on the shower chair popped out. Witch meant I went flying out and spiked my head on the floor, and I ended up on my back like a flipped tortoise unable to move. And I started shouting for my mum but I didn’t know she had the radio on and was in the garden, I had music playing on my phone in the bathroom. So no one could hear me but my dog Oatis did and started barking, and then my brother and his friend rescued me, and my super dog Oatis. So I am no longer accident free, but I am all fine just a bump on my head and a little graze on my back. I’m going to put it down as another day in the life of living with FA. And here’s to starting a new run of being accident free.

My Story

My Story

 My story in my own words…

Hi I’m Justin Damien Scrimaglia and I was born on 31^st 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 14^th 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 11^th 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 18^th 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 2^nd of October 2011 on the 3^rd 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 3^rd 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. 

If  you have any questions or feedback please sound off in the comments or tweet/follow me on twitter @JDScrimalgia of facebook me Justin Scrimaglia or email me justinscrimaglia@hotmail.com

 Thanks for reading.

  Justin Scrimaglia