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'Only 60 people in the UK have our daughter's genetic condition'

Seb Cheer, Oliver Day & Georgey Spanswick
BBC News, Yorkshire
BBC/Seb Cheer A man and woman sit on a sofa, with their three year old daughter between them. They are all smiling at the camera.BBC/Seb Cheer
Three-year-old Autumn is "one in a million" because of her rare genetic condition

The family of a three-year-old girl with one of the UK's rarest genetic conditions are faced with the prospect of relocating to another city in order to get treatment for her.

Autumn, who lives near York, has Hyper-IgE syndrome, which affects her immune system and requires daily antibiotics.

The toddler must spend six months at the Great North Children's Hospital in Newcastle from October, to receive a bone marrow transplant.

She has been told that Father Christmas will deliver her presents in hospital, but knows that after the operation, she will no longer have to take daily medication.

BBC/Oliver Day This is an image of a smartphone on a table. On the smartphone screen is a baby girl, Autumn, with flared-up eczema on her skin.BBC/Oliver Day
Severe eczema and increased susceptibility to infections are among the most common features of Hyper-IgE syndrome

Doctors first noticed something was wrong when Autumn was born, as she had raised levels of white blood cells, indicating an infection.

However, no infection could be found, and over the next 18 months, the family were "in and out of hospital with various different things", her father Matt says.

It was only during a visit to Harrogate District Hospital when a consultant, Dr Alexandra Hardisty, mentioned she had previously seen a case of Hyperimmunoglobulin E (Hyper-IgE) syndrome.

"It's needle in a haystack stuff - only 60 people in the UK have been diagnosed with this," Matt adds.

Genetic testing confirmed the suspicions, but also found neither of Autumn's parents carried the gene.

"It's a genetic mutation," her mother, Louise, explains.

"It's like a spelling mistake in her genes and it just means that her immune system – although it produces white blood cells so they can go fight the infection - they don't actually know where they're going.

"So they just run around her body and they might stumble upon it, but she needs extra help to get rid of infections."

According to the charity Immunodeficiency UK, common features are "severe eczema, increased susceptibility to infections and markedly raised levels of immunoglobulin E (IgE)".

Isolation period

Autumn's treatment will involve eight days of chemotherapy to destroy existing cells, before they are replaced through a bone marrow transplant from a donor in .

After the eight days she will have "no immune system whatsoever", Matt says, meaning there are strict rules to control any infection risk.

Autumn will spend three months in an isolation room with a carefully-controlled oxygen level, with only one of her parents allowed to sleep there at a time.

Every time they enter, they will need to scrub down and discard any outdoor coats or clothes.

Autumn's pyjamas and teddy, Mrs Pink Bunny, will have to be washed every morning, she will use a new toothbrush every day, and can only eat food provided by the hospital.

"There's a period of time when there's a line in the room and she's not even allowed over the line in the room," Matt adds.

"The hospital say that they expect her to be a bit more resilient than we would even be, because of her age."

Meanwhile, they will "press pause" on family life, Louise says, as she prepares to temporarily close her yoga and personal training business.

The hospital provides accommodation for whichever parent is not sleeping on the ward, but she says they will be "very much ing ships".

Autumn's parents say their biggest fear is that her "playful and sociable" personality deteriorates during treatment

The family has already visited the team of medics in Newcastle and "completed the hospital", Matt says.

After visits to "dentistry, CT scans, X rays, the play team, consultants, research teams, professors", he says all three family had a blood test.

Autumn says she went first to show her parents how "easy" it was: "I got a sticker - I was very brave."

Louise says: "You think, 'how are we going to do this"Amilah wearing a puffer jacket and rollneck jumper, with her dark hair tied in bunches, grins at the camera while standing on an ice rink with other skaters behind her " class="sc-d1200759-0 dvfjxj"/>

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