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Growing up and living with HADDS: Insight into a subjective experience

Back-to-back therapy sessions (PT, OT, ST) and specialist appointments were much of the daily routine during my early childhood. I grew up in a small town situated 60 minutes away from the Children's Hospital and 30-40 minutes from the Therapy Centre. If therapy or a doctor appointment did not make me tired, the long car journey surely would! My therapy began at Woody Point Special School, and later, the Cerebral Palsy League. Mum often reminded me of where I was going the next day or even the next hour, and all I could remember is how incredibly exhausting the experience was going to be. Don't get me wrong - therapy was designed to be fun and rewarding, while inherently engaging the participant to achieve desirable outcomes. My favourite part was Mum rewarding me with a toy matchbox car from the Hospital vending machine or something yummy from McDonald's. Around two decades later, I can still recall aspects of my physio, occupational, and speech therapy. I can remember activities that targeted my weaknesses, such as balance – balance beams, coordination – throwing and catching balls, fine motor skills – threading beads onto a string, and low muscle tone – playing with playdough or shaving cream. Mum meticulously kept records of different therapy techniques and these remain in my possession today. Indeed, Mum was incredibly determined and made sure I received many years of suitable therapies and supports.

The year was 1999, long before the advent of whole-exome sequencing and some years before the completion of The Human Genome Project. As my therapies continued, so did investigations into the cause of my very evident symptoms. All the standard tests were performed – an MRI scan, a full blood count, genetic testing for Prader–Willi syndrome and Angelman syndrome, all of which returned normal.

In October 1999, a muscle biopsy on my left quadriceps was performed, which was abnormal. Dr Anthony Tannenberg, Director of Neuropathology in Brisbane for more than 14 years, had not seen this abnormality before. The muscle biopsy material was sent to Dr Xenia Dennett, a well-known muscle and nerve specialist at The University of Melbourne. There were numerous unusual-looking 'cylindrical spirals' inside of my muscle fibres. The significance of these abnormal structures is unclear, but it was recently hypothesised by Western Australian researchers that my EBF3 mutation has led to their development. I received a diagnosis of 'Cylindrical Spiral Myopathy', of which most of my symptoms were mistakenly attributed.

"I became stronger and met expectations"

Therapies and specialist appointments continued throughout my childhood and well into my schooling years. I was placed into a mainstream school for Year 1, and I received additional support on the side through the Special Education Department. Physio, occupational, and speech therapies gradually became less necessary as I became stronger and met expectations. Unfortunately, I did not receive much psychological support in my early childhood. I struggled socially to make friends and form relationships with others, which still rings true today. Over time, I developed strabismus, or more specifically in my case – esotropia, where both of my eyes turned inwards. Professor Glen Gole surgically corrected my eyes twice, and they have remained straight for many years, although I am told that my left eye remains slightly crooked. As a result, I cannot correctly experience things like 3D imagery. I was also required to wear specialised orthotics on both of my feet to correct improper positioning - I can vividly remember the warm plaster mould that was sculpted around my feet. During any sporting events, I was required to wear protective headgear in the case of an accidental fall. At this age, it was quite apparent to me that I was markedly different from my peers. Bullies relentlessly targeted me, and as a result, my behaviour deteriorated quite significantly at home and school. I missed out on a lot of my schooling, both primary and exceptionally high school, because of medical problems, refusal to attend school due to the bullying, or because the workload was getting too much. I was probably not receiving enough support at school.

My spinal column was monitored for several years during my childhood, and in March 2010, I underwent a 7-hour spinal surgery to correct a 57-degree scoliosis curve. Two titanium rods, 12 screws, and donor bone graft were placed from T3-L3.

"Much love & support from my Mum, Dad & Brother"

I have always had much love and support from my Mum, Dad and my brother. Throughout my life, my brother saw me as an average person and treated me as such, while also pushing me outside of my comfort zone. I fiercely value independence, so when I turned 16, I immediately knew that I wanted to get my driving license; however, Mum was not too keen on this idea. I had access to an old, beat-up car that I would drive around our paddock since we lived on some acreage. I spent many hours per day doing this and enjoyed learning about the car and how the different gears worked. As time went by, I became more familiar and confident behind the wheel, and my brother convinced my parents to let me get my learner license. I needed to gain 100 hours of on-road driving experience before being eligible for my driving test. Like many other things I faced – this too was a challenge. I had some barriers; however, these were overcome.

When I was 18 years of age, I successfully passed my driving test with minimal errors, and I could drive a car independently. Maintaining concentration and monitoring fatigue has been a significant focus because distraction and fatigue can easily result in a fatality.

Since leaving high school, I have continued to struggle socially. I have trouble with interpersonal skills, namely knowing what to say and what not to say and some difficulty interpreting non-verbal cues. Despite this, I have been described as a kind, laid-back person who has a quirky sense of humour. In addition to that, I would say that I am sensitive to other people.

Throughout my life, I have had a love for technology and fixing things that are broken. In 2019, I completed an Information, Digital Media and Technology degree at College in Brisbane. I have extended this interest to offer computer services to people who need their computer repaired or maintained. In addition to this, I have also provided an analogue to digital video conversion service, where I take old videotape and transfer it onto a digital medium. I am also a student pilot, having gained some hours in a recreational aircraft.

Gaining employment has not been easy - applying for numerous positions and being rejected every time without any valid explanation is not good for your self-esteem.

"I am becoming increasingly happier with the person I am"

As the years progress, I am gaining a lot more confidence because I am becomin increasingly happier with the person I am, and I realise that I can do amazing things even with a condition like HADDS. Since finding the community on Facebook, I have met some lovely people interested in me and are happy to spend their time chatting with me. I have made it my mission to meet in person as many people as I can who are affected in some way by HADDS, and thus far, I have met a Mother and HADDS Foundation Board member who travelled from Texas in the United States to my home to meet my family. In addition, I have also travelled independently to places that I have not visited previously, across two Australian states, and met two HADDS families who welcomed me into their homes. In many ways, HADDS has been a real blessing – new opportunities have arisen, and I have travelled to recent locations and experienced a wide range of different scenarios, and in one case, a different culture and their excellent Portuguese food.

Next year or so, I would like to take the next step and move out of home and into my own place. I feel like this would be a huge achievement and something that will make me feel good about myself, in addition to improving my long-term mental health. I want to find a partner who will spend the rest of my life with me and support me through thick and thin.

Ready for the next steps...
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