The little boy who captured our heart
When Kylie and Todd were told their newborn baby had a skin condition, they asked if there was a cream they could use. Little did they know what would lie ahead for their son, Joshua.
As with any family, we were excitedly anticipating the birth of our second child. Well, come 12 January, 2002, the day finally arrived. I went into labour and as the baby was breach, a C-section was performed. As the baby was born, I heard the doctor say, “I didn’t cut the baby?” amongst all the chatter. An odd thing to say, I thought.
Like our first son, Samuel, born three years earlier, Joshua was given a great Apgar score and was a healthy weight. The paediatrician mentioned he had skin missing on some of his fingers and the back of his hands. He mentioned the words “epidermolysis bullosa” (EB). We asked if there was a cream or medication he could take. We were just told that if it were EB, we would need to speak to specialists. Within hours of Joshua being born he was transferred to Westmead Children’s Hospital. My husband, Todd, went with Joshua. When he came back, he was crying – saying the skin on his legs was blistered and peeling off from the knees down. My mind was racing. What was happening to our baby? I had only seen him for about five minutes since he was born. Everything seemed out of control. I finally got to see Josh two days later. In that time he had rubbed his face, leaving open wounds on his cheeks and mouth. We were told he was being transferred to Sydney Children’s Hospital, where there was a specialist EB team. Joshua had a skin biopsy done. It showed he had recessive dystrophic epidermolysis bullosa – one of the more severe forms of EB.
Over the next three weeks, we learned EB was a rare skin condition where the skin is missing the protein that holds the skin layers together – making the skin very fragile. It meant any friction, knock or bump would render the skin with blisters or completely shear the skin off, leaving open wounds on his body. We learned it affected Josh’s internal linings too – his oesophagus, intestinal linings, his eyes and inside his mouth. In those three weeks we learned how to care for Josh, how to pick him up, how to feed him, how to bathe him, how to lance and drain blisters, and how to do wound care and dressings. Joshua was bandaged from head to toe to protect his wounds from getting infected and also to protect him from the everyday knocks and bumps of life.
Todd and I were found to be carriers of the gene that causes EB – we were told we could be at a whole football field of 100,000 people and there might only be one person there with that gene. We were also told Josh was only likely to live to be about 25-30 – a concept we had to get used to.
Taking him home was the scariest time. There we were, alone with our newborn with no medical help around. Luckily, family stepped in to help with bathing and dressing changes. Just the simple act of Josh kicking the side of the bath would result in blistering. I only had Josh home about a week when I thought I would research EB. Well, after a couple of hours, I don’t think I have cried so much. I read words that I didn’t understand at the time; words like contractures, webbing, strictures, corneal abrasions, anaemia, skin cancers … no wonder the doctors didn’t want us to research EB initially. It was a devastatingly bleak outlook.
I looked at my sleeping baby and wondered what his life would be, a life of pain and debilitation. From then on, I decided we just had to take it day by day and deal with issues as they came up. Well, it only took two weeks before Josh had his first serious EB issue. One morning after feeding, Josh began gagging, throwing up blood and skin. As we had never experienced anything like this, we rushed him to the hospital. We were told there must be a blister in his oesaphagus causing this. While it healed, Josh was fed via a nasal gastric tube. This same thing would happen many more times over the years. The days and months passed; we got into a routine. Josh would scream the house down at bath/dressing time, but all in all he was a good baby, despite his EB.
Every step of Josh’s life was a hurdle. Learning to crawl would bring blisters to his feet, knees, elbows and wrists. Walking caused sore feet. If he fell over you could see where he had contacted the floor, as the skin would shear off. Just wearing clothes could hurt him – seams could rub blisters, tags were cut out and covered with soft material, buttons were a no-no.
We were careful cleaning his teeth so as not to cause friction inside his mouth. Every aspect of his life was affected. Over the years, Josh got a feeding tube to help with nutrition (and to administer medications). He would have regular iron infusions to help with anaemia (due to blood loss from wounds) and dilatations to keep his oesaphagus open. When he was still a baby, his tongue became fused to the bottom of his mouth, making eating hard. Josh’s toes and fingers began to fuse together, due to the skin constantly breaking down. He got contractures (permanent shortening of the muscles) behind his knees and in his mid-section, making him walk like a little old man. He had chronic wounds on his torso that didn’t heal. EB was relentless, it never gave up.
As Josh got older and with dressing changes taking at least two hours, bath time became a dreaded time as the pain of his wounds would become unbearable. The screaming and crying was heartbreaking; pain medications didn’t seem to help. He would constantly ask me, “When can I get good skin like you and Dad?” My response was that doctors the world over were fighting the good fight trying to find a cure. Unfortunately to this day, there is no cure.
I became involved with the charity DEBRA, and met other families living with epidermolysis bullosa. It was a godsend to know other families existed and we were not alone in our journey – we could ask questions, ask for help, and be shoulders for others to cry on. We made many friends in this amazing community. I would give talks to small community groups, attend cheque presentations, and hold fundraising events to raise money and EB awareness. Josh would often come with me and tell his story.
Despite all his health issues, Joshua had the cheekiest personality. He loved The Wiggles, Thomas the Tank Engine and – later on – WWE. Joshua loved to take sneaky videos on his iPod, he would scare the hospital nurses with his ‘undertaker’ look, and he loved listening to his favourite band, Green Day. He had dreams of becoming a train driver or a policeman, he loved writing stories with his vivid imagination, and told me he was going to live in a granny flat out the back. He loved his school friends, hanging out with family, and just generally being a chatterbox to anyone who would listen.
In 2010, when Josh was eight and Samuel 11, we went to Disneyland. The boys had an amazing time and a lot of wonderful memories were made. Josh was having a great year healthwise, as well as he could living with EB. At the end of October, I noticed Josh was breathing a little too fast for my liking. Like many times before, I took him to hospital to be checked, despite Josh telling me he was fine. By the end of the day, we were told he had pneumonia, although he had no real symptoms. The plan was he would have I/V antibiotics and come home in a few days.
“The screaming and crying was heartbreaking; pain meds didn’t seem to help.”
But the news quickly turned grim. “Josh’s heart is failing, there’s nothing we can do,” the doctor told us. Josh became more and more subdued and his breathing became laboured.
Surrounded by love, our little boy gave up the fight. We were in disbelief. We thought we’d have him for many more years yet. He was still just eight and 10 months.
I am still involved with DEBRA Australia. Every year in October is EB awareness week, and every year I do my best to raise awareness for the ‘worst disease you never heard of’. More information: debra.org.au