LIVING WITH THE RARE NEURO-DEGENERATIVE DISEASE: FRIEDREICH ATAXIA

Warning this is Straight from My Heart <3 My mission is to put this out to the universe for my Gorgeous Son Jake as he has asked <3 It’s pretty heavy duty & might take you a few minutes to read, so if you don’t feel like reading it that’s cool but if you do you will have a greater insight into what we have been through & what we are about to face <3

My name is Jules & I am the very proud mum of Jacob (Jake as he is known) & we live on a large rural property in Western Australia in the Wheatbelt town of York approx. 120kms from Perth. Jake is 20 years now turning 21 this year.

Jake was diagnosed with FA in 2010 at the age of 13 going on 14 years. I knew there was something seriously going on with Jake from an early age, from the age of 9 he started losing co-ordination & was unsteady on his feet. School and being involved in sports was becoming very hard for Jake, as he was subjected to the cruel taunts from other kids for being clumsy and not being able to keep up. Even though he had a good network of mates, as this unknown force was becoming more apparent in his life it became harder.

Instinctively I kept persevering in trying to find out medically what was going on with my gorgeous son. I pushed the doors on so many medical professionals until finally after a few years I got an appointment for neurology at the Childrens hospital PMH in Perth. It took some time but eventually in 2009 our neuro who was a lovely lady and showed great interest in Jake, decided it would be a good idea to have a 10 neurosurgeon case conference at PMH with Jake (as the guinea pig so to speak).

Prior to this meeting I was tireless in trying to find my own answers. And watching Jakes co-ordination and mobility becoming compromised and falls becoming more frequent, it was like he would be standing in the kitchen next to me and all of sudden he was on the floor, like the signals from the brain were not getting to his feet. He also was struggling in himself and as his mum I was struggling myself watching this, knowing deep down there was something terribly wrong.

I Googled everything from motor-neuron (my cousin died from this condition at a young age of around 30ish), Marie-Charcot Syndrome, MS (Multiple Sclerosis) CP (Cerebral Palsy) and managed to find an off-shoot page to a rare neuro-degenerative condition called Friedreich Ataxia. I read and printed the page and the thoughts going through my head were I really really hope I am wrong, because this describes what is happening to Jake.

So the 10 neuro-surgeon case conference was upon us all and Jake, I & his dad Brad were there. Jake was struggling at this point to walk. We would help him by holding his hand, plus he was wall balancing.

This was a day that will stay forever burnt in my memory as they tested Jake with different neuro ways for around an hour. We were then led out of the room to the waiting room, while they discussed Jake.

Little did our neuro know that I was armed and dangerous with my medical research in my bag when she came out from the room and said that they dont know what is wrong with Jake and they need to do DNA testing which could take up to 2 months for the results. We agreed to go ahead with the testing, however I asked her “what are you testing for Dr?” and asked are you testing for MS, MN, CP, Charcot-Marie Tooth Syndrome? Yes yes yes she said, I then said how about Friedreich Ataxia. Her reaction was of surprise and she said yes we are testing that too, I was happy with that answer and said good because I have the research in my bag for that one.

Totally gobsmacked she said really show me, So I did!! She marched promptly back into the conference room closed the door and God knows what she said but once those 10 Drs came out the look on their faces was priceless. I did pray to my angels that I would be wrong. Please let me be wrong God.

Two months later Jake and I had an appointment with our neuro at PMH to hopefully get some answers and Jakes condition was worsening. There were no results to be given after our 2 hour roadtrip, however on the way home I got the phone call that was about to change Jakes and our lives forever.

The Dr called and asked if I was home yet, I pulled over and said no we are just going up the hill out of Midland we are about an hour or so away from home. It was a moment also embedded in my memory. The Dr didnt want to tell me as I had to drive a long way back home to the farm. I said well I am not moving until you tell me and it was a stinking hot January day, You have to tell me I begged, So she did reluctantly, Jacob has Friedreich Ataxia.

I was frozen and devastated. F*** I was right, I then burst into tears for a moment, knowing Jake was right there with me and I had to get us both safely home. I got myself together pretty quickly and our Dr made me promise to call her office once we got back to the farm safely. As we made our way up that hill Jake said these words I will never forget So Mum what is it? Am I going to die? Devastated I said sweetheart you know we all have to die right? Yes mum he said I know. I said well as long as I walk this earth I am going to do my very best that you will not die on my watch sweetheart.

I showed Jake the medical research I had on the rare condition Friedreich Ataxia and while driving I was watching his expressions. Priceless moment; Jake comes out with gee mum that sounds like me I always look drunk while Im walking and I dont even drink. We had a laugh and he continued to read it, without much emotion except that well if thats what it is it is and I will have to deal with it. So my next mission was to tell his Dad and his nan on the farm as well as my own family that was over east the devastating news. That wasnt easy at all but I did it.

Sadly within 6 months of diagnosis Jake was in his 1st wheelchair, he officially lost movement in his legs and that was a whole new place that we went to. Extremely heartbreaking.

So since then Jake has had a couple of trips to the FA Clinic in Melbourne and I would dearly love to take him every year but financially its a struggle and physically for Jake even worse.

Jake has had foot correction surgery which was a ride through hell and back, with 8 weeks’ elevated and plastered legs, then 8 weeks of intensive rehab, which was a lot of roadtrips to the city and back for me and Jake. But we got through it stronger & more resilient.

Jake has now got a Cert III in Fitness and loves fitness, I quit my job a couple of years ago due to several issues, I burnt myself out trying to work and got very sick, and Jakes care level shot up. So after getting myself back on track, both Jake & I religiously spend 2 hours a day doing workouts to help keep Jake fit and in a good head space and myself too, to continue this fight against FA. Jake has a much loved bar that he does pullups, chinups & weighted pullups with up to 15 kgs around his waist and 9 kgs on his ankles to do traction to stretch his spine out.

Now FA is wreaking its havoc on Jakes back with what became a 83 degree curvature to the right. Amazingly with all the hard work and stuff that Jake wants to do & me as his gym buddy & spotter he has managed to turn that around & back to 71 degrees. Our spinal surgeon who I also had to hunt out through other professional contacts in Melbourne was absolutely amazed with the videos and pictures Jake showed him and his registrar in Nov 2016. Surgery is highly recommended now in order for Jake to have a straight back but at what cost is our question.

We are now waiting for the next appointment for 2017 & at this point where Jake needs to decide if he wants to go through spinal surgery & as you can imagine it is not a decision to be taken lightly.

Jake has asked me to put this out to the universe & by telling Jakes story I hope that I can help Jake get armed with as much information as possible for his decision.

So you beautiful people out there in our FAmily if you can give me any feedback on your experiences or those of your loved ones with FA that have endured the absolute nitty gritty hard & unexpected experiences through having spinal surgery to such a degree please let me know anything for Jake. You can add comments below or on Facebook.

We want good bad & ugly so that opens the door massively.

Some of you know of my/our story but some of you dont so if you have read this to this point you will maybe have a better understanding of the struggles everyday that Jake & our FA family face whether you have FA or are watching someone you love suffer the relentless wrath that is FA. There is no mercy with FA.

Thank you for taking the time to read this.

Love & sunshine always to you all.

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