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July 2002
Three-year-old Broderick runs into the house crying with a broken and bleeding blister for his mother Susan to tend.
It wouldn’t be such an unusual family scene except this is only one of the many blisters that Broderick will have in any given day. Like his four-year-old brother, Samuel, and his mum, he suffers from the rare genetic disease epidermylosis bullosa (EB). What many of us know as ‘cotton wool’ babies.
‘Samuel has a mild form and I’m moderate to severe. Broderick has it severe,’ says Susan Hirst.
‘We all have the simplex version and we have it without scarring, which is lucky. If you scar you can end up with cancerous lesions.’
The disease has a significant impact on the family’s life. ‘Every night is sleepless. We are up five or six times a night because Broderick wakes up crying with the pain. We have to lance the blisters and drain them.’
If the blisters are not broken as soon as they form, they grow bigger, and when they finally burst, they leave more exposed sore tissue with the increased chance of infection. Broderick is often on antibiotics for these infections.
‘There is no specific treatment for the condition. We have to be careful about what we wear on our feet. Wool socks are best because they absorb moisture, and we have to buy leather shoes. We’ve had a lot of trouble buying shoes for Broderick and many have been no good.
‘In mid-summer I avoid shopping in town or go into air-conditioned stores, otherwise we won’t get our shoes on the next day. The cooler weather helps because there’s not so much heat friction,’ says Susan.
Because of the Australian climate, she and her husband Andrew – general manager of a local pig company - often think of moving from their small farm in Young back to her home country, Canada. Andrew himself is English and the two met in 1990 when they were backpacking in New Zealand.
In spite of her EB, Susan loves walking and climbing, describing herself as a risk-taker and a total extrovert. Perhaps it is even because of the condition that she feels the need to push herself. ‘Maybe I do those crazy things to prove something to myself.’
‘In New Zealand I managed to climb Mt Egmont and then I couldn’t get down. It took me all day to make my way back and then I had to stay in bed for six days. My feet were raw.
‘EB has had a huge impact on my life. I’m so used to suffering that I’ve got this incredible pain threshold. I did everything as a child, playing all sports, though they would often put me in as goalie so I didn’t have to run around. Samuel always gets blisters when he plays soccer. And when he’s old enough, I’ll let Broderick do whatever he wants to do.’
For the moment though, Broderick is so sensitive that his parents even carry him in and out of childcare when he goes.
Susan’s own mother realised there was a problem when she was still a baby. ‘In my cot I would get blisters on the back of my head or on my shoulders or heels. It must have been so hard for my mum. She didn’t know what to do. I know when my kids should come in and soak their feet and cool down.’
Susan only realised the extent of her condition when, as an adult, she made contact with her birth mother. While Susan had been adopted and knew this from an early age, she was not aware of her family’s genetic history.
‘My birth mother has it, her mother has it and her grandfather had it. Two of my mothers other four daughters have it. It is caused by a dominant gene and there’s a 50-50 chance a child from a carrier will get it.’
That’s a sobering thought for Susan who is pregnant with her third child, due in October. She knows it will be another brother for her two sons. She just doesn’t know if he will have EB.
Even though she claims to be ‘pissed off’ some days because of the condition, she is happy most of the time – a trait she believes is common to EB sufferers. And she knows it could all be a lot worse.
‘We all have the simplex version of EB. Others have the dystrophic or junctional variety. And they die. That’s when you get blisters on the lining of the stomach which ulcerate and you bleed to death, or you get bleeding blisters on the throat and you starve.’
The Hirsts are great supporters of Jeans for Genes Day, realising the importance of medical research in understanding genetic illnesses such as theirs. Susan will give tell her story at the Jeans for Genes art auction on July 4 at the Art Gallery of NSW.
You can help support the work of the Children’s Medical Research Institute by wearing your jeans on Jeans for Genes Day – Friday August 2 and buying a badge or making a donation. For badge outlets phone 1800 677 260 or visit www.jeans4genes.com.au
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