Ollie was only a few hours old when his parents and hospital staff realised there was something wrong. Just six hours after he was born, during his first bath, baby Ollie’s skin began to peel away.
Ollie was taken to the neonatal intensive care unit of the maternity hospital and then transported to a children’s hospital the same day for further investigations. He spent two weeks in hospital, where his condition continued to baffle medical staff. Initially it was believed he may have a skin infection such as staph. The experience was traumatic for Ollie and his first-time parents, who had to witness their son being bathed in a solution of bleach and salt to prevent infection of his fragile skin.
Ollie’s mother Gemma had to learn how to hold her boy in a particular way while breastfeeding, and inserting an IV drip for antibiotics was challenging given bandages could not be applied to Ollie’s sensitive skin. He was unable to be swaddled like other newborns and also couldn’t be under heat, which could aggravate his inflamed skin, which was also blistering.
Ollie was included in Melbourne Genomics’ Complex Care Flagship and had his DNA sequenced in an attempt to find a cause for his skin condition. Just before he turned one-year-old, genomic sequencing gave a very precise diagnosis of a rare genetic skin condition called Epidermolytic hyperkeratosis. This affects an estimated 1 in 250,000 births.
Today, Ollie’s skin is fragile all over, blisters and is thicker around the hands and the feet. However, some symptoms including peeling skin will improve with time. His skin is also prone to infection so at age 21 months, Ollie still needs to have daily bleach and salt baths and be moisturized heavily. His parents need to carefully think about what clothes, nappies and shoes he wears.
Gemma says having an answer to what was causing Ollie’s condition allowed her and her husband to have an idea of their son’s long-term health and medical care, connect with others for support, and plan their family.
Both Gemma and Ollie’s dad Chris were tested and were not found to carry the same gene change that caused Ollie’s condition.
There may be issues with Ollie’s hands due to skin thickening in future, which the family can now plan for.
“It was a highly traumatic experience for us and the hardest year of our life. But from a genetic perspective, it opened our eyes. There is so much we can do with genetics that we are just not doing,” Gemma says of the first year of Ollie’s life.
Gemma says despite his condition, Ollie is a happy little almost two-year-old.