Rett Syndrome: Somerset mum's 'survival mode' as girl regressed

Alice said as a mother she went into "survival mode" for several years when Niamh was first diagnosed

Everything about Niamh was normal - she could play and run just like other three-year-old girls.

It was only when her mum, Alice Dolan, noticed her daughter was choking on food that alarm bells started to ring.

Then Niamh stopped making eye contact with her mum and she started to lose her abilities to do even simple things.

Eventually her daughter was diagnosed with Rett Syndrome, a rare genetic neurological disorder.

Niamh has Rett Syndrome, a rare neurological disorder

The syndrome is a severe, life-limiting genetic neurological disorder and causes profound learning disabilities.

It mainly affects females, one in 12,000 compared to one in 40,000 males, according to Rett UK.

Ms Dolan is to run the London Marathon in aid of the charity on Sunday, the same day her daughter celebrates her seventh birthday.

Although present at birth, the condition is usually undetected until a major regression occurs at around two years of age, when children lose acquired skills and the complexity of the disability is revealed.

Niamh, from Treborough, near Dunster, is now unable to speak and requires constant care.

She has just learnt to walk again and communicates via a machine, which can track her eye gaze.

Remembering when Niamh began to deteriorate Ms Dolan, 34, said: "She started not being able to chew and choking on food - turning blue.

"She then started to hold her breath and stopped looking at me in the eye. Eventually she stopped doing anything."

What is Rett syndrome?

• It is a rare genetic disorder that affects brain development and results in severe mental and physical disability.

• It mainly affects girls and impacts about 1 in 12,000 births each year

• It is present from conception but usually remains undetected until the child - often from the age of one - starts to regress

Source: NHS

After a visit to the GP, Niamh was referred to a neurological specialist in London, where her diagnosis was confirmed.

With her holding her hand in the room was Yvonne Milne MBE, whose own daughter was one of the first to be diagnosed with Retts in the UK.

Ms Milne founded Rett UK in 1985 round her kitchen table.

The charity now has a national helpline, co-ordinates Rett specialist clinics in conjunction with the NHS, offers support groups and has a dedicated parental contact network.

"When it all started it was shock and panic, as a mother you're just in survival mode, so much adrenaline keeps you going for years," Ms Dolan continued.

"It's only been in the last couple of years that I've started to process it all fully - that this isn't going away, it's incurable.

"Then it's about the process of making sure she is as healthy as possible for as long as possible.

"We are doing everything possible to give her the best life possible."

Niamh communicates via a machine which tracks her eye gaze

Ms Dolan is determined to raise awareness about the condition and Rett UK, which she says has provided "amazing" support.

The full time carer has so far raised over £6,200, during her training for the marathon.

"I've never been a natural runner but in lockdown I started running," said Ms Dolan.

"When something like this happens, it changes your perspective, to live life better - there are no excuses."

Robert Adamek, Rett UK's CEO, said: "We are delighted to have Alice in our London Marathon team this year in honour of her daughter.

"Alice has worked so hard over the past several months, balancing being a mum and carer all while undertaking marathon training for the big day.

"Reading the positive comments on her fundraising page from family, friends and the Rett community, shows the enormous support she has."