Go-ahead for next phase of rebuild
CONSULTANTS AT a West Yorkshire hospital have been liaising with fellow medical experts in London over a seven-month-old baby who has been diagnosed with a rare genetic disorder that affects just one other person in the UK and 40 people worldwide.
Jack Humphreys has stunned doctors at Leeds Children’s Hospital and his parents with the 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.
Medical teams in Leeds and at London’s Great Ormond Street Hospital for Children have been in discussions over the diagnosis as the only other known case in the country is being treated in the capital.
If untreated, the condition can cause seizures, so Jack’s parents, Louise and Nick Humphreys, must restrict the volume of liquid he can drink and he will need medication for the rest of his life.
Mrs Humphreys, said: “He is loving life and has always been happy – he takes it all in his stride. When we go for blood tests now he does not even cry because he is used to it.”
Now Mr and Mrs Humphreys, of Morley in Leeds, are hoping to raise awareness of the rare condition, which affects mainly males.
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 it has happened to us.”
Jack, who has two older sisters – Olivia, aged seven, and threeyear-old Niamh – 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. He was subsequently referred to Leeds Children’s Hospital for tests.
Most of the tests were negative 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 did not 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.
The amount of fluids Jack takes on has 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, a 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 fewer than 40 reported cases worldwide.”
Mr and Mrs Humphreys have already 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.
The next stage of a multi-million-pound redevelopment of Bretton Hall has been approved.
Bretton Hall Partnership Ltd can now create six two-storey office pavilions as part of the £5m regeneration of the former student accommodation block at the Yorkshire Sculpture Park.
The renovation will see the historic Grade II*-listed mansion house in West Bretton extended and turned into a 120-bed hotel with restaurants, a bar and a spa, as well as wedding and conference facilities.