Ffion

A few months after her birth, Ffion was diagnosed with a life-threatening immunodeficiency called Omenn syndrome and had a bone marrow transplant at Great Ormond Street Hospital (GOSH). Ffion’s mum, Louise, talks about their time at hospital.

When Ffion was three weeks old she developed serious skin problems. “She would wake up wriggling and crying and wouldn’t sleep for more than about an hour at a time,” explains Louise. Ffion was in and out of hospital frequently until she was referred to GOSH at three months, after tests revealed her skin condition may be due to an immunodeficiency.

Omenn syndrome

Ffion was diagnosed with Omenn syndrome, a severe combined immunodeficiency (SCID) which meant that her immune system was not working properly.

“When she was poorly her skin would be her tell-tale sign, bright red and weeping. Her face was all blotchy. She had cradle cap all over her head. It was awful,” says Louise.

Unfortunately, Ffion had severely impaired liver function prior to transplant and had been on a ventilator, so she was too ill for a conventional bone marrow transplant.

A pioneering treatment

Ffion was given a new treatment using antibodies to prepare her for the bone marrow transplant, rather than undergoing chemotherapy as is the norm. Louise explains: “she was so poorly we just thought it had to be done.” The treatment involves using an antibody to wipe out patients’ diseased bone marrow tissue and create space for the donated healthy tissue to grow.

Dr Persis Amrolia, a consultant in bone marrow transplants at GOSH, led the research. “Because this technique gives us an alternative to intensive chemotherapy, the treatment we can offer is safer, and provides a greater chance of allowing these children to grow up to lead normal healthy lives,” says Dr Amrolia. “This represents a major breakthrough in how we treat patients who have primary immunodeficiencies (PID).”

Ffion

Ffion had her life-saving transplant at five months old, but there were some complications. Unfortunately she developed Graft Versus Host Disease (GVHD), which means the body attacks the new tissue or organ which has been transplanted. Ffion had to spend an extra three months at GOSH for her health to improve before she was allowed home.

Healthy and happy

Ffion has recovered extremely well and mum Louise couldn't be happier. “Now she's a completely healthy, happy little girl who goes to school. She's outgoing and bubbly and you'd never know she's been through all of this,” says Louise. “Things could have been so different if it hadn't been for the amazing work of the doctors at GOSH.”

Read about the plans for the new Centre for Research into Rare Disease in Children, part of the redevelopment programme, and the molecular immunology research facility it will host to enable pioneering gene therapy for patients with rare immune system disorders like Ffion.