Meet the Leeds boy far too special to be just one in a million

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Meet smiley Jack Humphreys - a little boy who is far too special to be one in just a million.

This adorable seven-month-old has a rare genetic condition which is thought to affect just two children in the UK - and there are only 40 reported cases across the globe.

Jack has stunned doctors with his condition, which is called Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD), because it is so rare.

It means his kidney receptors are overactive and he retains too much fluid in his body.

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If left untreated it can cause seizures so his parents, Louise and Nick Humphreys, must restrict the volume of liquid he can drink and give him medication four times per day.

Mrs Humphreys said: “He is loving life and has always been happy - he takes it all in his stride, bless him.

“When we go for blood tests now he does not even cry because he is used to it.”

Jack was diagnosed after a series of tests by doctors and consultants at Leeds Children’s Hospital. It is likely he will have to take medication for the rest of his life.

Now Mr and Mrs Humphreys, from Morley, are hoping to raise awareness of the rare condition.

Mrs Humphreys, 28, said: “We didn’t know what it meant so it was a bit of a shock. We find it a bit mad how rare it is and that is has happened to us.”

Jack, who has two older sisters - Olivia, seven, and Niamh, three - who are both healthy, was born on September 2 after a routine pregnancy and birth. It was only when he was a few weeks old and not putting on weight that his parents and a midwife realised something was wrong.

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Families are usually discharged two weeks after birth if everything is well but at five weeks old he hadn’t been because of his weight. He was subsequently referred to hospital for tests.

Most of the tests returned fine but one revealed he had very low sodium levels resulting in his blood being diluted and his urine concentrated.

Eventually in November a hormone test confirmed the genetic irregularity.

Mrs Humphreys said: “He was born perfectly fine and looked healthy. Doctors were baffled as they hadn’t dealt with it before and we are still waiting for results of genetic tests to find out whether it is from me or a mutation that is just really random.

“He will have to take medication for the rest of his life but it is all a learning curve for us at the moment.”

Jack was first prescribed medication to take orally but he didn’t respond to the treatment. He was then given a powder to take four times a day but after catching a sickness bug he now has to be administered medication via a tube through his nose.

Despite his condition, Mrs Humphreys said Jack is still an active baby going through the usual milestones of early childhood.

She said: “He loves being in his Jumparoo. The one thing we do worry about is him pulling his tube out.

“It is quite distressing for me and his dad because the nurses have to put it back in and in the last two weeks he has taken it out four times.”

The amount of fluids Jack takes on have to be limited so Mrs Humphreys was unable to breastfeed, but says as he gets older the condition should be easier to manage.

Dr Kay Tyerman, Consultant Nephrologist at Leeds Children’s Hospital said: “Jack is a lovely, smiley little boy.

“He was diagnosed with an extremely rare condition called Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) at three months old.

“He is only the second child in the UK to be looked after with this condition and there are less than 40 reported cases worldwide. Due to an abnormality in a gene, Jack’s kidney doesn’t function correctly meaning that his body holds on to too much water.

“Jack has responded very well to treatment and is thriving. He is currently looked after by specialist doctors, nurses and dieticians in the kidney and endocrine teams at Leeds Children’s Hospital.

“His parents have to restrict the volume of liquid that Jack can drink and he takes a special protein called urea that helps move more water from his kidneys into his urine.

“NSIAD is a life-long condition and Jack will always require treatment but we expect him to do very well and will continue to work closely with his parents throughout his care here in Leeds.”

Mr and Mrs Humphreys have already fund-raised £800 for L40, one of the wards at Leeds Children’s Hospital where Jack is treated and will be taking part in a fun run in July to raise money for Kidney Care UK.