Simone’s daughter was born with “the worst disease you’ve never heard of”.

Epidermolysis Bullosa personal story

Warning: Graphic images.

I was introduced to the world of EB in 2000 when my daughter Eliza was born with Recessive Dystrophic Epidermolysis Bullosa (RDEB).

My husband and I started the journey of being first time parents in a state of sadness, desperation, frustration and a sense of being constantly overwhelmed.  In the years to come we welcomed our second child into the family, and along with the support of DEBRA Australia, family and friends, and support services we have lead a very fulfilling but restricted life which tragically came crashing down around us two weeks before Christmas last year, on December 12, 2017.

EB takes the utmost love, dedication and determination (and a sense of humour doesn’t go astray) just to name a few attributes to deal with new challenges that EB presents on a daily basis.

Everyone meets challenges in life – some things we have little or no control over – but it is how you deal with the challenges that counts.  When living with EB, it’s important to make each day count!

Imagine being given a gift… A gift of life, you are so excited to become a first time mother and all you can wish for is that your child arrives safely and as that time gets closer you can’t wait to hold them.

Who would have thought a mother’s touch would cause their baby pain? This was the reality I was hit with when our beautiful baby Eliza arrived on January 28, 2000. As soon as I held her in my arms it was very apparent that there was something wrong. She was born with large raw areas extending over her feet, right leg & knee, her hands and her mouth. She was born at a local private hospital and was immediately transferred to the Royal Children’s Hospital and after a terrifying and long 2 weeks, she was diagnosed RDEB. I still remember the empty feeling that took over my whole body.

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Eliza was going to be affected from a debilitating medical condition that became worse with life. It was one of the more severe types of EB and referred to as ‘the worst disease you’ve never heard of’.

Epidermolysis Bullosa personal story
Image supplied.

Doctors advised Eliza would be in constant pain, she required morning & evening dressing changes including salt & bleach baths which took approximately three hours, three times a week. Her fingers and toes would web and form strictures, the skin in her throat would become so tight from scar tissue that she wouldn’t be able to eat normal food, or at desperate times even be able to swallow her own saliva. Eliza would suffer from corneal abrasions which means her eyes would be closed for 3-5 days at a time, in a darkened room due to a tear on her cornea. Her mobility would be affected, she would require bandages and dressings all over her body every day of her life and she wouldn’t be able to wear normal clothes or undergarments because even the seams on the inside of the clothes would blister her skin. It was going to change our lives forever and it did.

Eliza screamed for her first 6 months, she failed to thrive due to blisters in her mouth and throat, she required various medications, up to 24 each day, and she required help throughout the night. She totally turned our lives upside down.

Severe EB requires many hospitalisations for various related complications. Eliza had over 100 general anesthetics and day admissions, and 60 admissions requiring lengthy stays.

One of many reflections of living with severe EB was on Eliza’s 15th Birthday, when she woke with a corneal abrasion. She was crying in pain, eyes were swollen & tearing, she couldn’t open them.

After she had some pain relief she settled down & sat in bed feeling her wrapped birthday presents, trying to guess what they were?

I watched & thought to myself how could life be so cruel? EB had taken away her independence, her mobility, she couldn’t eat or enjoy her birthday cake & if that’s wasn’t bad enough, it also took away the joy of opening her presents.

EB is ruthless, unforgiving, it has no boundaries and it’s sad to see how it robs individuals, especially children of a fair go in life.

Epidermolysis Bullosa personal story
Images supplied.

It was times like this that we were so thankful for our family & friends but especially thankful for the support DEBRA Australia offered. To have the support of an organisation who are with you 100% of the way, and pick up the pieces for families who fall through the cracks of the health system is an enormous comfort in itself. DEBRA is a small community that connects you to likeminded families who are going through the same journey.

Eliza was not your average adolescent in more ways than one. She was truly in a league of her own. The depth of her pain and suffering was surpassed only by her polite and gentle charm, attention to data and detail, thorough knowledge of her own medical history, humility, a cheeky smile and sharp wit, and her sheer grit and determination in everything she set her mind to. Eliza didn't see her EB as a burden - it was part of her, but did not define her.

On 17th August 2017, Eliza became unwell and was admitted to the Royal Children’s hospital with what was first diagnosed as a chest infection. Soon after it became obvious that Eliza had kidney impairment and over the next four months she spent majority of her life in hospital for renal treatment which consisted of being hooked up for many infusions lasting up to 10 hours each day. Eliza continued to deteriorate and sadly passed away on 12th December 2017, just 6 weeks short of her 18th birthday. We lay with her as she took her final breath and wished she didn’t have to suffer from this hideous disease.

As the Family Support Coordinator for DEBRA Australia, the battle with EB continues for many families across Australia. Especially for three new families, all from different states - three new babies, all equally as severe as Eliza and one copped a double blow, with also being diagnosed with not one but two serious illnesses.

These families are faced with the hourly torment of high medical needs. For one family there’s constant suctioning to clear mucus and saliva secretions, constant persistence of feeding, because their baby’s throat is severely damaged by torn lining and ripped skin. The sleep deprivation of attending to their crying child every 2-3 hours during the night, and to administer more pain relief, is exhausting.

Although Eliza has been the face of many DEBRA Australia campaigns, for me personally nothing changes. I continue to work on the front line with these families, with DEBRA Australia, and with help from the community we will continue to support them through their living hell.

With generous donations, we are able to place nursing support within their home, for daily dressings and wound care that lasts up to 3 hours.

We are able to link them in with our newly set up psychology program in Melbourne and Sydney, along with all the other support pathways we already have in place.

Our programs are expanding, and we will continue to provide support for EB families who at times feel as though all hope is lost.

I personally see the relief donations provide, and I can’t begin to tell you just how much of a difference they make.

It gives families hope, in a sometimes and all too often hopeless situation.  It lightens the load at times that seem almost impossible.

It’s vitally important to keep all our programs running for EB children, adults and their families and I hope the broader community get on board to support our PB4EB campaign which I personally will be a part of in tribute to my beautiful Eliza who lost her battle with EB.

Here’s how you can help: www.debra.org.au/how-to-help/

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