Jacob (17 months old) was born with no skin on his left leg and blisters in his mouth. It only took doctors a night to suspect he had EB and we were lucky to receive his official diagnosis via genetic testing a week later as some families have to wait for up to a year. He was diagnosed with severe Recessive Dystrophic Epidermolysis Bullosa (RDEB).
We had never heard of the condition and I was scared to touch him at first from fear of causing him harm. My husband was more confident and by day 5 took over from nursing staff to do his daily dressings because some nurses couldn’t cope doing it. I cried more than ever when we had to get a nasogastric tube inserted because he was unable to feed well enough – I thought that meant he wouldn’t survive.
But Jacob is tough – despite having a very severe form of RDEB he is one of the happiest babies I have ever seen. He smiles and laughs quickly and enjoys cuddles with pretty much anyone.
His daily life is challenging. Due to how fragile his skin is, he requires dressings from his toes to his fingers – basically everything but his neck and head are covered in dressings. He has to lie still for hours every day while parents and support workers poke and prod him and hold him down. Pretty tough on a 17 month old. Some days he screams the entire time and we have to go as fast as possible, it is heartbreaking. I often question if he will grow up to hate me.
Even with such extensive dressing protection, blisters and wounds still occur every day. As parents we constantly question what we did wrong or could do better to protect him. Because Jacob has RDEB his mucosa (internal skin) is also affected and can blister and tear. He has severe reflux which causes vomiting every day and night, and for Jacob this also means injury and pain from the friction caused by his reflux. If he was not on regular pain medication he would be in constant pain. When he cries we have to figure out whether he is crying from normal baby problems or if he is in sore. We are trying to teach him baby sign language just so that he can tell us what hurts.
EB is a constant battle – weighing up pros and cons of managing a disease that currently has no cure. Will this help more than it hurts? There is never a right solution, only multiple options with different risks. EB is so rare that many things are unknown, and doctors are often guessing. As parents we have to become the experts to advise doctors and suggest solutions ourselves. It is not a job any parent wants to do and we constantly worry about his future.
EB desperately needs a cure so babies like Jacob don’t have to live a life of pain from birth. So parents don’t have to torture their children every day. So siblings can play with their brothers and sisters without worrying about hurting them. EB sucks. Please help us fight it!
~ Lauren, proud mum of Jacob