Hemel parents raise awareness of rare genetic skin condition after losing their son

Parents from Hemel Hempstead are raising awareness of a rare genetic condition after losing their son Dylan when he was three months old.

Simon and Karen Talbot are sharing their story to raise awareness of Epidermolysis Bullosa (EB) and DEBRA, the national charity that supports individuals and families affected by the condition.

Epidermolysis Bullosa (EB) is a group of genetic skin conditions that cause the skin to blister and tear at the slightest touch.

Simon and Karen lost their son Dylan to Junctional EB aged 3 months and 1 day.

When he was born in June 2017 he was rushed to the Special Care Baby Unit and his parents were told he had EB and they were unable to hold him, in case they caused his skin to blister.

A skin biopsy was taken and EB specialists contacted Simon and Karen from Great Ormond Street Hospital to give them the terminal diagnosis of Junctional Generalised Severe EB.

They said: "Our entire world then fell apart. They explained the body needs a certain amount of protein to heal - Dylan had none. His blisters were both external, on the skin, and internal.

"As parents we had to make some difficult decisions about end of life care as well as managing his deteriorating condition.

"This involved the loss of skin, managing open wounds and pain medication. DEBRA introduced us to a Community Support Manager called Rowena who provided us with vital emotional support for us as a family.

"Rowena made detailed notes during medical appointments so we could just listen to how we could care best for Dylan."

DEBRA also sourced and helped fund medical equipment (specialised nappies, EB friendly baby clothes and air cushions) which took away the additional stress and meant Simon and Karen could spend precious time with their son.

They said: "Despite the pain he was in, Dylan was an amazingly calm and happy baby and brought so much joy to our lives. He was with us for three months and one day before he passed away – every day he was with us was so special.

"DEBRA continues to support us today. After Dylan passed away we were offered bereavement counselling and have taken respite in a DEBRA funded holiday home."

In 2018, Karen found out she was pregnant. EB is inherited and both parents were carriers of the gene and this meant it was likely their baby would have the same type of EB Dylan had.

Thanks to advances in EB research and funding from DEBRA, they were able to test their baby for EB before she was born.

Their baby girl was born on November 4, 2018, EB free.

Simon and Karen said: "We named her Katie Rose Talbot after the EB Nurse Specialist at Great Ormond Street Hospital – Katie Plevey.

"She was such a big part of our family life with Dylan that we wanted her to be forever part of our family. Rose is also Dylan’s birth month flower, so her name is very special.

"We promised Dylan before he passed away that we would always continue to #FightEB so we do all we can to support DEBRA.

"We will always remember Dylan and treasure the memories we had with him. Research into EB is so very important and gives us hope that one day there will be a cure into this devastating condition. Together we can #FightEB."

This week is EB Awareness Week (October 25-31) and the charity patron is Tom Holland.

At DEBRA, their work is focused on funding research for treatments and ultimately a cure, while also supporting people and their families living with EB to enhance their quality of life through improved healthcare, access to information and respite care.

To make a donation to the charity, visit: www.debra.org.uk/get-involved.