A MUM has feared every day was her son’s last after doctors gave a premonition about his death.

Ruth Dalton’s boy Samuel, 24, was born with a brain that failed to form properly and was “shrivelled”. 

Doctors were baffled as to the cause of his mystery condition, which has left him unable to walk, talk or have any mental capacity.

They chillingly told Ruth that Samuel wouldn’t see his third birthday.

It wasn’t until Sam was 17 years old – after more than a decade of worry – that he got a diagnosis of Bainbridge-Ropers syndrome. 

But being only one of 300 worldwide known to have his disease, only discovered in 2013, Ruth was no closer to any answers.

She doesn’t know how long Samuel will live or whether she’ll ever hear the words “mum”.

Ruth, 56, told The Sun: “He's got what's classed as no mental capacity, which means that he doesn't really understand much at all.

“He can't talk, he can't walk, he’s incontinent. 

“I feel like I’ve missed out on a lot of things. But I had other milestones to celebrate, like the first time he laughed or smiled.

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“The first he held his arms up to me, that was amazing. He would have been about eight or nine years old at that point.”

When Samuel was born in 1998 he was a lot smaller than expected, had a club foot, and wasn’t able to breastfeed.

He stopped breathing due to a lack of nutrition, and from then, doctors believed he simply had a feeding problem.

That was, until Samuel was four months old, Ruth trusted her gut instinct and got a second doctor’s opinion.

After seeing a GP, Samuel was sent almost immediately for tests at the hospital, where a CT scan found something worrying.

Ruth, who works for a mental health charity, said: “It showed that he has some cerebral atrophy, which means his brain is shrivelled. 

“It hadn't developed properly above his right eye and the whole structure of his brain looked abnormal.

“It was my first child, I didn’t know what the hell was going on and was terrified. They’ve basically just told me my child is going to die.

“I was told by the doctor that it was unlikely that he would live past three years old.

“I didn't know which day was going to be Samuel’s last.

“Every single night when I put him to bed, I said ‘Mummy loves you’ because I wanted that to be the last thing he heard if he didn't survive the night.

“I did that for years and years, never knowing if it was going to be his last day.

“You have got no idea what the future holds, and that was really, really difficult.”

BABY STEPS 

Ruth hoped her son would start walking, talking and reaching other toddler milestones, but she soon got used to the fact his progression was “slow and sporadic”.

“I looked forward to Samuel's first steps, first words and my first cuddles but they didn't come,” she said. 

“I realised that he wasn't sitting up when normal children of his age would sit up. He wasn't trying to.

“He was so small and they actually cast him as having what's called ‘failure to thrive’, where his body just wasn't improving."

When Samuel reached his third birthday, the family celebrated – but it didn’t take Ruth’s fears away.

She said: “I didn't know if he was going to live till three and a half, or four or five. The uncertainty didn’t go away.”

As Samuel grew, it was realised that he had orthopaedic problems beyond his clubbed foot, as his “legs were a funny shape”.

He has had major surgeries to straighten his spine and his hips completely reconstructed with bone grafts and pins.

But Ruth said doctors were perplexed as to the cause, and he was classed as ‘undiagnosed’.

That was until geneticists got in touch with Ruth and told her of a new study that they believed Samuel should be involved with.

The study started in 2013 and it took around two years for experts to piece together what conditio Samuel’s had.

Ruth said: “A lot of people couldn’t understand why we wanted a diagnosis or a ‘label’. 

“The reason we wanted a label is because we want to know what to expect. 

“We want to know what they can and can't do, what's an impossible task, are they going to improve and is it terminal?”

Bainbridge Ropers Sundrome occurs due to a fault in the ASXL3 gene, and most patients have intellectual disability, feeding difficulties, growth problems, absent speech and special facial features.

Ruth said: “When I didn't know what was wrong with Samuel, the doctors said 'the chances are of you having another Sam are very high'.

“As it turned out, the faulty gene wasn't passed down from me, it was completely random.”

Unfortunately Bainbridge-Ropers syndrome (BRS) is so rare that Ruth wasn’t able to find the answers to her questions on Google, and doctors were still "baffled".

She was determined to understand more, and contacted one of the researchers who discovered the condition, herself.

Ruth said: “The problem was that the condition is so rare that we still had no idea what the future held, or if Samuel would ever have any possibility of improvement or even cure.

“Samuel was only the 12th person in the UK to be diagnosed, and there are 300 worldwide.

“For about a year, I felt very alone and maybe even more worried about the future than I was before. 

“I had read somewhere that there had been fatalities from the condition but didn't know any more than that."

Ruth's breakthrough was finding a Bainbridge Ropers Syndrome page on Facebook.

“From that day, Samuel and I became part of a new, extensive family," she said.

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Ruth focuses much of her time trying to organise funding so that families across the world affected by BRS can meet up and support each other, and is involved with Genetic Alliance UK.

She would be on “cloud nine” if her son ever spoke words – even if it was a swear word.

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