Meet Brooke

Published: April 21, 2019 ~ 0

Brooke’s FOP Journey…..

Most stories about Fibrodysplasia Ossificans Progressiva start from a young age, my story is different.

FOP for me, is only a relatively new “friend” since 2009 when I was diagnosed at the age of 29. My journey up to this date is different to many of the FOP stories for which I am very grateful.

I led a fairly normal childhood, I participated in sports such as netball and horse riding and as a teenager tried ice skating and ice hockey (which I hated!) Looking back there may have been signs that my FOP “Friend” was with me, such as my noticeable walk which included fast small steps with my head down, and my stiff neck, but as I have normal toes and no known flare ups as a child FOP went undiagnosed.

From my early 20’s when I first noticed lower back pain I found myself in the public and private hospital system. I was moved around from doctor to doctor all unsure of what exactly was the problem. It was clear that I had something going on but no one was quite sure what to do about it which lead to many years of misdiagnoses and unnecessary testing.

In 2009 I had what I now know as a significant flare up in my neck. The lump was biopsied in 5 different places and at the same time I had a CT on my neck, abdomen and pelvis. It was during the investigation of the CT that the radiologist suggested that maybe it was FOP, however, that would be rare given my age and my normal toes. After this I had genetic testing where the doctor also said it was highly unlikely it was FOP as he has seen a patient previously with the condition, the results came back and confirmed that indeed I had FOP but a variant form which had only been reported in one other patient at the time.

Since that time I have learnt what living with a progressive rare disease means, it is often very isolating, being diagnosed as an adult at a time when friends are planning their lives was and is a hard thing to cope with. The “P” in FOP stands for progressiva, meaning the condition will progress, I don’t know when but it will. Not knowing when and having this out of your control is extremely hard to deal with. One thing you don’t get told when you are diagnosed is that you will get a new family, your rare disease family. For me my family is spread far and wide, I have not met most of my family in person but they are always there for support and guidance on any topic without judgement, without them this journey would be immeasurably hard. There are only 17 people in Australia and 2 in New Zealand that have FOP, we are a small but close knit group who rely on each other for support, I am grateful for their help in times of need.

I am very lucky given my late diagnoses and unnecessary invasive procedures to be reasonably mobile. I am married to my husband Brendan and we live with our 2 pets Penny and Gracie. I currently work 4 days a week and I am a director of FOP Australia the charity founded to help people in Australia and New Zealand. I recently completed a Diploma of Business (Governance) under part scholarship from the Women’s Leadership Institute Australia and Institute of Community Directors Australia. I hope the knowledge that I have gained from this course will help FOP Australia and our community as we move forward towards a treatment for FOP.

Parents Dean and Jennifer at Brooke’s graduation (2009) – 7 months prior to diagnosis

Brendan, Rach, Brooke and Julie in Sydney (2010)

With Fred Kaplan at The University of Pennsylvania (2014)

Meet Jarvis…

Published: February 25, 2018 ~ 0

Meet Jarvis – a cheeky and funny six year old who loves to sing U2 songs and race around the park.

Jarvis is young and so when suddenly the simple things in life like running, swimming in the pool, or even getting dressed suddenly become harder, naturally he gets frustrated and it’s hard to explain to a child of four that somehow, randomly in the universe of life – he was given a rare disease to live with.

You see, Jarvis has FOP (Fibrodysplasia ossificans progressiva) – one of the rarest, most disabling genetic conditions known to medicine. FOP causes bone to form in muscles, tendons, ligaments and other connective tissues. Bridges of extra bone develop across joints, progressively restricting movement and forming a second skeleton that imprisons the body in bone. There are no other known examples in medicine of one normal organ system turning into another.

FOP affects approximately 800 people around the world, of which, fifteen are confirmed to live in Australia. The biggest indicator of FOP in babies is deformed big toes. Yet medical professionals are largely unaware of this warning sign given the disease’s 1 in 2 million incidence rate.

Jarvis was born in Brisbane, Australia and diagnosed at around 2 years old, nine months after he hit his head on some tiles. His head swelled so much he couldn’t open his eyes. After countless visits to the hospital, neurologist, paediatricians, plastic surgeons, he was finally referred to a geneticist for testing for fibromatosis. No-one even considered FOP.

Around this same time there was a segment on a current affairs program discussing another Australian patient – Zach and his mum Laurin. Lara didn’t see the program but her girlfriends did, and immediately thought Jarvis might share Zach’s condition.

“The next day I contacted the hospital only to be told it wouldn’t be FOP as it is such a rare disease. Unfortunately a lot of people with rare diseases face this initial response”, Lara recalls.

“Eventually, we found a specialist in Australia who was confident from photos I had sent – that Jarvis did indeed have FOP. Genetics Queensland then confirmed this. We felt numb and ignorant as to what this meant for our son” she says.

After working tirelessly to raise funds to allow them to travel with Jarvis to the 2014 Manchester FOP conference, Jarvis was seen by world-renowned FOP experts from the University of Pennsylvania, Drs Kaplan, Pignolo and Shore.

“We have learnt so much from other families on how they deal with their child having FOP and we have made lifelong friends who are providing a great support for us while Jarvis is going through his first flare up”, says Lara.

Watching Jarvis going through his first flare up is extremely difficult for his parents. He’s been suffering since September 2015 with moving masses of muscle in the upper body – restricting movement in his arms and neck.

“We thought we had time, we thought an approved treatment would be here before he had to go through anything”, sighs Lara. But that hasn’t been the case. “Our Jarvis is resilient, he’s funny, he loves U2 with a passion and we believe his love of music is really helping him. He has not let these flare ups stop him one bit. He has had them for nearly five months”, Lara explains.

“FOP is unpredictable and never the same in anyone and with no effective treatment – watching his little body be ravaged by this disease breaks our hearts”, Lara says sadly.

But despite this, the global FOP community has real hope of a treatment or cure – with several drug trials and studies taking place around the world. One of these includes a site in Brisbane under Professor Matt Brown of the Queensland University of Technology.

Jarvis’ experience prompted Lara and other Aussie FOP families to establish Australia’s first FOP not-for-profit organisation, FOP Australia, which has been up and running since May 2015 and hopes to raise much needed funds for medical research and patient support for Australian living with FOP.

“In just a few short months, Jarvis can no longer lift his hands above his head or bend down to pick something off the floor. It’s terrifying”, says Lara.

“We desperately need funding for drug trials, medical research and access to experts” Lara says passionately. “We’ve had so much support from our friends and FOP community so far, and we know there will be more now that FOP Australia is up and running” Lara says hopefully.

Written by inaugural FOP Australia board director Maris Stanley

28 February is Rare Disease Day, when activities are held around the world to show people living with rare conditions to know they have the support of a community behind them. Explore our web page to learn more about life with FOP by reading our other profiles, learn more about the disease, find out about the work and goals of FOP Australia. There are also links to many ways you can contribute to the fight to beat FOP – by supporting our fundraisers, joining our membership, or donating online. You can also show your support by liking our Facebook page.

Meet Derek

Published: April 15, 2016 ~ 0

I was diagnosed at the age of 5 and a half in Melbourne. After falling while playing chasy at school, I hit the back of my head on a pole where 2 lumps formed at the base of my neck. Nearly every department in the Melbourne Hospital didn’t know what I had, to the point they were making up names to give the disease. Until someone tried the Genetics Department where Dr. Rogers diagnosed me with Fibrodysplasia Ossificans Progressiva (FOP). My name is Derek, friends call me Dez and here are some parts and moments of my life.

This disease certainly is not an easy thing to cope with when you’re a young child without the knowledge of the fear of what will happen when you try things or fail. I still consider myself lucky compared to most others. I competed in Little Athletics as a child and did things I shouldn’t have, mostly without consequences brought on by FOP.

Until puberty came around most people thought I was faking a disease to get attention at school because it wasn’t really apparent that I was any different than anybody else. Then out of nowhere things changed so rapidly that it shocked my entire school, I had a growth spurt and I am approx 6 foot 3 inches tall. The Doctors recommended I use a kneeling seat rather than a conventional chair, what they didn’t expect was this was to cause my spine to keep leaning forward more and more as I grew older.

I was given a king single waterbed to sleep on to help with comfort since I was twelve. Any other bed since, has been too uncomfortable. After too many falls a mobility scooter was the only option at fifteen years of age. I wasn’t happy about it but understood none the less and my resilient nature got on with life and adapted as it always does.

At 19 I started a computer business which I ran for 3 years mainly to gain some experience. Due to requiring constant transport it was no longer viable for me to continue, so I closed the business down.

I taught myself scripting and began making websites and graphics in Photoshop to keep myself busy.

I have always refused to let FOP stop me from doing most things that I enjoy, even fishing. I went deep sea fishing and reeled in an 85lb black marlin, I also took family and friends out for another fishing trip and caught my first blue fin tuna. I took the 3 wheeled scooter onto the boat and it was quite a challenge to balance and fish at the same time.

Photography is another passion of mine that grew the moment I borrowed my sisters cheap little film camera, little did I know that later in life I would buy a camera and be good at capturing moments that caught my eye or my heart. My partner had a love for horses and I wanted to help support that. We bought our first camera and started going to horse shows and events to take photos for an online horse magazine. I’ve always had a love for animals big or small and taking photographs of them was another way to share that love.

We spent three years taking show jumping, cross country and dressage photos before taking the leap and buying our own horse for my partner to ride. Not just any horse, the one we chose was a horse that nobody really wanted. A horse that was saved from a slaughterhouse and later bought from a Horse Sanctuary, every owner just used her as a confidence horse before selling her on. So to me this horse never really had a home, until now. Without realising it I began to mentor my partner with her riding and boosting her confidence, along with that formed a very special bond with a very special horse called Millie.

Documenting my partner and Millie’s riding progress with photos and write-ups on a local horse forum we got to share our journey with a large portion of the horse world and give others confidence along the way to continue riding. I was able to teach Millie, give her confidence to try, and show her the love and respect she well deserved. I was told by a few professional riders that the close bond and trust we shared was something many riders strive for, considering I never rode her that it was quite unique.

We also started a local beginner’s horse riding club together, I took on the jobs of organising riders, the bbq for lunches and photographing riders during their lessons.

Millie was not a young horse when we bought her, unfortunately she died after 5 years from a suspected heart attack while running through the paddock. Her memory lives on in photos of some of the moments we spent together.

Her passing put an end to my photography of horses for over the next 5 years or more. My partner and I also parted ways. I was later to land myself a job in technical administrator role through one of the members of our riding club who suggest I apply for the position at the company she worked for

I began working for a Communications company and handling wireless internet customers, technical support, monitoring the company’s wireless towers and working with a great team of guys. FOP was determined to stop me from working, I fell in the shower fracturing my pubic bone and was involved in a bus accident coming home from work which both affected me but I refused to let that get in the way of a job I needed to do. I had a very busy job helping two companies with all things to do with wireless internet. Unfortunately the entire company was made redundant due to a buy out and we were all no longer needed after 4 years and a lot of hard work.

Currently I’m 44 and although quite restricted now and I no longer work, I still continue with photography when I get the chance. I did some charity working offering local families photo sessions in the park for a small donation to help raise money for a 3 year old boy with a brain tumour.

I still live independently with support workers coming and going to do the things I cannot. Mostly these days I am a keen PC gamer who takes life slow but I have learned to take each day as it comes, deal with things when they happen and not to stress too much about the “what ifs”.

Thank you for reading my story.