When I was born in 1994 in Brisbane, the obstetrician noticed I was missing skin on my feet, the front of my legs and the inside of my arms. I was losing skin at a concerning rate with every touch and movement. In a hurried effort to preserve my skin, my limbs were wrapped in plastic-wrap, and I was rushed to a larger hospital where doctors began testing for a diagnosis. Within my first week, I was diagnosed with Epidermolysis Bullosa (EB). There had been no history of EB on either side of my family, so it was determined that the likely cause of my EB was a ‘fresh’ gene mutation (typically affecting 1 in 360,000 people). At the time, there was little known about EB, and the doctors were unsure of what this would mean for me. Medical professionals couldn’t give my parents much insight into what life and my future might be like.
During the first six months of my life, a nurse visited three days a week to assist with my dressings, lancing blisters, bathing and splints which were used to prevent contracture (a condition of shortening and hardening of muscles, tendons, or other tissue) from scar tissue. During these first few months, my skin would blister or lift with the slightest touch; this is why people living with EB are commonly referred to as ‘Butterfly Children’ as their skin is as fragile as butterflies’ wings. As I grew, the condition of my skin slowly improved, however, dressings were still a daily requirement. When I was about three years old, testing identified my EB subtype as simplex Dowling Meara.
By the time I reached primary school I was very independent, managing my own dressings and care. Although my dressings became less difficult, school became a challenge. Kids can be cruel, and I experienced bouts of bullying during my primary school years, with a fellow student deciding they could not be near me because they believed they would ‘catch’ what I had. I have carried the pain of bullying into my adult life, and it has taken me some time to heal myself.
The occasions when I require dressings are rarer now; although, I still experience issues with my feet when wearing shoes, or at times general clumsiness. As a result of my EB, I also experience hair loss. I have been gradually losing my hair most of my life, with the assumption that scarring has damaged my hair follicles. This has progressed over the past couple of years, and I was diagnosed recently with Alopecia. I must admit, experimenting with wigs and toppers has been a bit of fun!
Last year, my husband and I decided to begin genetic counselling, so that we could potentially start a family. Previous genetic testing for my condition came back inconclusive, but this time the ‘gene fault’ was found. This was great news for us, because it meant that health professionals can use this information for in vitro fertilisation (IVF) when we were ready. The geneticist advised me that the specific gene fault that caused my EB was also associated with Dilated Cardiomyopathy, a heart disease that affects the left ventricle which does not contract properly, and subsequently dilates. Testing found I had in fact developed dilated cardiomyopathy in addition to considerable scar tissue around my heart. I was advised I had mild mitral valve regurgitation because of the cardiomyopathy which was stabilised when I started taking heart medication. In June 2022, I had a procedure for an Implanted Cardioverter Defibrillator (ICD) because of the risk of malignant arrhythmias combined with the scarring around my heart. If my heart falls into an arrhythmia or stops, the ICD will be put to work. Whilst Cardiomyopathy is not rare, the reasons I developed the condition is due to my primary rare disease, EB. Following my ICD procedure, my husband and I hope to start a family, with the help of a team of specialists.
My experience with medical professionals and specialists has been mostly positive. They have supported my health and goals throughout my journey, and I am grateful for them. The issues I have experienced in relation to my rare disease have been based on a lack of awareness and limited medical resources, which are issues that have largely improved over the years thanks to organisations such as Rare Voices Australia (RVA) and RVA Partner, DEBRA Australia. My hope for the future is to use my experiences growing up with a rare diagnosis, to be an advocate for the rare disease community. I have read the stories of people living with a rare disease, and what stands out to me the most is how unique we all are. It is our uniqueness that unites us as one community.
Renae is one of our RVA Ambassadors!
