Thor is 1 of just 3 peo­ple in world with rare con­di­tion

Leek Post & Times - - NEWS - By Laura James [email protected]­

BRAVE tot Thor Scragg needs 24-hour care – af­ter be­ing di­ag­nosed with an ex­tremely rare meta­bolic dis­or­der.

The 18-month-old was rushed to hos­pi­tal by his fran­tic par­ents in Au­gust when his body ‘went floppy.’

But as his con­di­tion de­te­ri­o­rated he was taken into re­sus­ci­ta­tion and in­ten­sive care with sus­pected liver fail­ure – and his mum and dad were told to pre­pare for the worst.

The Leek tod­dler spent three weeks in hos­pi­tal – both at the Royal Stoke and Birm­ing­ham Chil­dren’s Hos­pi­tal – and had

250 blood tests be­fore he was even­tu­ally di­ag­nosed with an ex­tremely rare dis­or­der called PEPCK De­fi­ciency.

It is be­lieved only three other peo­ple in the world have been di­ag­nosed with this con­di­tion. Thor is the only one in the UK.

Mum Jemma, aged 27, said: “We ini­tially thought it was be­cause he was teething, but when he started to go floppy we knew some­thing wasn’t right. When we got to the hos­pi­tal he was un­re­spon­sive and he had sep­sis in his blood.

“When he was in in­ten­sive care the nurses told us to sit down be­cause they didn’t know whether he was go­ing to make it. I don’t think ei­ther of us re­ally knew how poorly he was un­til that point.”

Dad Chris said: “We were told we needed to stay by his side be­cause doc­tors just didn’t know what was go­ing to hap­pen.” A PEPCK de­fi­ciency causes an ex­cess of acid in the cir­cu­lat­ing blood, re­sult­ing in low blood sugar, low mus­cle tone and liver im­pair­ment.

It also pre­vents a child’s abil­ity to grow nor­mally and in­creases the risk of them need­ing an or­gan trans­plant in the fu­ture.

Thor has also started to suf­fer from seizures brought on by the con­di­tion – mean­ing he now needs round-the-clock care.

Jemma, who is a care as­sis­tant, said: “Thor has a re­ally ex­treme case which is dif­fi­cult be­cause it is such a rare dis­ease that not many peo­ple know about.

“We have been told it’s main­tain­able but not cur­able.”

Thirty four-year-old Chris, who works as a plas­terer, added: “For­tu­nately, kids are very re­silient and Thor is tak­ing it all in his stride. Our other chil­dren know that he’s not very well and he needs to be looked af­ter.”

Ear­lier this month the cou­ple – who live in Frith Street and have four chil­dren to­gether – staged a fundraiser in aid of the Birm­ing­ham Chil­dren’s Hos­pi­tal which raised more than £1,300. The event, at The Bri­tan­nia Inn, in Leek, in­cluded a darts knock-out com­pe­ti­tion, live bands and an auc­tion.

Mick Pratt, co-owner of The Bri­tan­nia Inn, or­gan­ised the event. He said: “When we heard about Thor we wanted to raise some money for the hos­pi­tal.

“I raised some money for char­ity in the past for my son who had can­cer. Un­for­tu­nately he didn’t make it but we still wanted to help.

“The peo­ple and the busi­nesses in Leek have been so sup­port­ive and gen­er­ous.

“They were happy to donate some re­ally good prizes for the auc­tion and raf­fle.”

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