How Leeds tot Jack takes rare genetic condition affecting just 40 in the world in his stride

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Just like any other 18 month old tot, Jack Humphreys loves playing with his toy cars and dinosaurs, going to his childminder and his favourite treat is chocolate buttons.

But Jack is not like any other toddler.

18 month old Jack Humphreys from Morley, who has a rare genetic condition called Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD). 'Picture Jonathan Gawthorpe

18 month old Jack Humphreys from Morley, who has a rare genetic condition called Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD). 'Picture Jonathan Gawthorpe

He has a genetic condition that is so rare it still puzzles even the country's top doctors and means he will have to take medication for the rest of his life.

This time last year, Nick and Louise Humphreys, of Lewisham View, Morley had been left reeling in shock after learning, when Jack was just a few months old, that he had Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) - thought to affect just one other person in the UK and there are only 40 reported cases across the globe.

Due to an abnormality in a gene, Jack’s kidney doesn’t function correctly meaning his body holds on to too much water. His parents have to restrict the volume of liquid Jack can drink and he takes a special protein called urea that helps move more water from his kidney’s into his urine. If the levels of sodium in his body become imbalanced he could have a seizure.

From being diagnosed he was fed through a tube and had to have medication three times a day but in the last year Jack has come on leaps and bounds.

Jack Humphreys loves toys and books despite his rare condition.

Jack Humphreys loves toys and books despite his rare condition.

The tube was removed nine months ago and Jack eats solid foods, his medication is now three times a day and his hospital visits to the renal team at Leeds Children's Hospital have been put back to every six to eight weeks to have his sodium levels checked.

He goes to a child-minder twice a week now his mother Louise, 29, has gone back to work as a nursery nurse and last month the family - which includes Jack's two older sisters - went on holiday for the first time since he was born.

Mrs Humphrey's said: "We still don't know very much about it, the doctors are still trial and error with it. He is doing really well considering this time last year, we were getting our heads around it. The only scare we have had is when we went to two doses of medication. He did not react well, he was restless, could not stop crying and we had to give him medication.

"When I went back to work he came to the nursery I work at because I couldn't leave him with anyone and was panicking but he started getting very clingy so now he goes to a child minder."

The ball pool is one of his favourite places to play.

The ball pool is one of his favourite places to play.

Managing Jack's food and drink intake

On a normal day Jack will have a bottle in the morning and at night and is limited to 100ml of water during the day. He loves his food and has cereal or porridge for breakfast, a sandwich and a yogurt for lunch, which has his medication mixed in, and whatever his parents are having for tea.

He is allergic to milk and can't eat cheese or soya and his favourite foods are pasta and dairy free chocolate buttons - which means he won't miss out on Easter treats.

Jack loves to play outdoors, with cars and dinosaurs or in his ball pool and enjoyed his first holiday in March when he family went to Gran Canaria.

Jack pictured with parents, Louise and Nick Humphreys.

Jack pictured with parents, Louise and Nick Humphreys.

Mrs Humphrey's said: "This time last year we didn't think we would go abroad. We went with his grand-parents so there was a full haul of us. We found out where the nearest hospital was and had a letter from his consultant as we were worried we would get pulled at the airport because his medication is a white powder."

Future

Although Jack's speech is a little under-developed due to the time he has spent in hospital there is no reason why he can't have a normal school-life and it is hoped by then his medication can be dropped to two doses a day as his body gets more used to the condition.

And while information about the condition is still sparse, genetic tests on Jack and his parents revealed his mother is a carrier of the gene which caused the condition and it is generally carried by females.

She said: "I feel so awful about it but we did not know. In the future he won't pass it on but my daughters might so if they have boys they might get the same condition. But now we have got our heads around it and the treatment has been working for months and months we think Jack will go on to have a normal life."