Teen's life transformed by gene editing

ByJoanne Writtle

West Midlands health correspondent

A teenager has revealed how her life has been transformed thanks to pioneering gene editing, which reversed symptoms of a crippling blood disorder.

Vian, 16, was born with thalassemia, a condition that affects haemoglobin - used by red blood cells to transport oxygen around the body. It left her short of breath and with no appetite.

Her own stem cells were edited and she no longer needs the monthly blood transfusions she endured for most of her life.

"My whole life's different now. It's changed so much," she said.

The treatment, for patients with thalassaemia or sickle cell disease, is offered to young people at three children's hospitals in the country.

Vian, from Coventry, was one of the first to have it.

Her edited stem cells were returned to her last December, following chemotherapy, and she has now recovered well.

"It's much easier for me now. I always have energy to do stuff," Vian explained.

"I'm like, ‘mum let's go out’. Before, I would just sleep, always tired."

She has started studying health and social care at college, with ambitions of becoming a nurse, having spent most of her life surrounded by medical staff.

"I have more options now. Before, I couldn't do most things other kids could," she added.

"I usually sat out of PE. I really love PE, but I couldn't do that."

Consultant haematologist Dr Sarah Lawson describes the treatment as a "functional cure" - the disease doesn't go away, but the aspects that caused problems are removed.

"We collect the stem cells. They are sent off to a manufacturing laboratory where they are edited...and that changes how those stem cells work and it makes them produce more foetal or baby haemoglobin," she said.

"And in a patient with thalassaemia, that allows them to be transfusion free, and [in] a patient with sickle cell disease, it gives them a high baby haemoglobin level, which then negates the problems with the sickle haemoglobin.

"When I was at medical school, which was a long time ago, I remember learning a little bit about gene therapy and it being talked about then. And for it now to be a reality 20-odd years later is incredible."

JoelSamuel, 14, from Oldbury, is at the start of his journey.

His sickle cell disease leaves him in excruciating pain.

Like thalassemia, the disease also involves red blood cells and is usually a lifelong condition, affecting patients' joints and leaving them feeling weak and tired.

JoelSamuel's stem cells have recently been collected at Birmingham Children's Hospital.

They will be edited and in six months he will have chemotherapy before his edited cells are returned to him.

He dreams of being able to enjoy sport. Attempts to do that now make him ill.

"I get tired and then the next day I get sick and I won't be able to go to school," he said.

He explained that he was initially nervous about having the treatment, but also feels hopeful.

"I think it's good to make me better, so I can go and do stuff that takes my energy," he said.

JoelSamuel has suffered a lot. His parents say they are praying the treatment will help him.

His father Alfred, who is 47 and runs a logistics company, said: "There are a few patients that have been on it, mainly with thalassemia instead of sickle cell. So we are hoping that we might get the same effects from it.

"Hopefully he might be able to play football after all."

JoelSamuel's mother Juliet, a 41-year-old seamstress, said: "I just can't wait to see him doing the normal things that everybody does at his age."

Vian has now been discharged from hospital.

We asked her if she had a message for JoelSamuel at the start of his treatment journey.

"Imagine all the things you can do while being healthy again.

"I think you can do it, I did it and so can you. I know it's going to be really hard and the trauma and everything, the nurses, the medicine, everything, but it's worth it."