Maisy's story dystrophic epidermolysis bullosa (EB) - Jeans for Genes

Maisy's story

Eight-year-old Maisy was born with the genetic disorder recessive dystrophic epidermolysis bullosa (EB), a painful skin condition that makes the skin very fragile, causing agonising skin blisters from contact as minor as clothing seams. The condition gets progressively worse with age, and Maisy uses a wheelchair as her mobility is limited.

Maisy’s condition was noticeable from birth – her hands looked purple and the skin was raw. A paediatrician who saw her at birth thought she had EB, but needed confirmation from specialists at Great Ormond Street Hospital and genetic testing before making the diagnosis that would change the family’s life forever.

When Maisy was just five days old the results came back positive for EB, but her mum Amy had no idea at the time the severity of her condition. Some people are mildly affected, while for others it can be very severe. For some children the condition is so severe it is fatal in early childhood.  It has been a steep learning curve for Amy, who also has a son, Harry, who doesn’t have EB.

‘I felt terribly guilty that the condition is genetic. Did I do something wrong in the pregnancy? Why has this happened? Why didn’t I know? But you can’t feel like that for the rest of your life. You have to do the best you can.’

Any touch, knock or rubbing on the skin tears Maisy’s skin, leaving open wounds. Each wound then has a high chance of infection, even inside her body on her oesophagus, tongue and mouth. As a baby Amy had to bathe her in an inflatable bath as knocking against the side of the bath damaged Maisy’s skin.

These days Maisy has carers to stay with her when she’s at school to keep her safe as even the slightest knock at school can result in painful blisters. EB is very painful and Maisy needs strong painkillers, from morphine to tramadol, every six hours to cope with the pain. She is constantly bandaged but it can still be devastating if she knocks. The dressings and bandages need changing daily, which takes hours. Blisters have to be lanced, which is painful, and they are slow to heal. One blister took 18 months to get better.

Maisy can walk, but not very far, so she uses an electric wheelchair to get around. EB also affects internal organs, and Maisy has regular scans to monitor her heart and other organs.

Her fingers are crooked over and her toes are fused, although toe surgery has corrected a problem where her toes pointed down like a ballerina. But Amy is determined to help Maisy have as normal a childhood as possible.

‘She loves playing with her cousin Eva. She is a very girly girl, she likes make-up and Littlest Pet Shop. She is like any other child but she is just very delicate and fragile.’