A mother has spoken of her devastation after finding out her baby son only has years to live.
Little Jack Shaw, who is one-and-a-half, was diagnosed with a rare condition called MPS Type 1 Hurler syndrome, which affects around one in every 100,000 people in the UK.
His mother, Nadine Turner, of Keymer Close, St Leonards, said the toddler’s family are now battling to raise money and awareness of the life-limiting condition.
The disease is a genetic disorder in which the body lacks an enzyme called alpha-L-iduronidase.
Without this enzyme, the body cannot properly break down long chains of sugar molecules called glycosaminoglycans.
As a result, these molecules accumulate in the body, causing numerous health problems, which get progressively worse over time, such as heart disease and mental disability.
Nadine, 24, said: “Jack was diagnosed with the syndrome on August 1. He went into the Conquest with a chest infection and doctors knew there was something wrong.
“Part of me knew there was something not quite right, as Jack had hearing loss in both ears from birth, he wouldn’t eat properly and struggled with food.
“Doctors thought it was Cornelia de Lange Syndrome (CdLS) but tests revealed it was Hurler’s, which is even rarer.”
Jack’s family saw a specialist at Guy’s Hospital in London, who knew instantly what the toddler had.
Nadine added: “I was devastated when first told the news. My first reaction when I was told the news was that Jack had it mild. But the doctor said it was quite severe. I said: ‘Just tell me he’ll live a healthy life’.
“But I burst into tears as I was told Jack’s life expectancy could only be 11 and a half years.
“Jack’s dad Kieron has always said to me that Jack will be fine, as he’s strong. Kieron has been very supportive.”
Jack is currently undergoing 12 weeks of enzyme replacement therapy and went to Great Ormond Street hospital this week.
He will also need to have chemotherapy and a bone marrow transplant, which his family are trying to find a match for.
Jae Cookson, Jack’s uncle, is growing all his hair and facial hair for The Society For Mucopolysaccharide Diseases and will cut it off when Jack starts losing his hair. So far he has raised more than £200.Full details and how to donate can be found at https://www.justgiving.com/Jaes-Head-And-Beard-Shave/?utm_source=Facebook&utm.
For more information on the charity Jae is raising money for visit http://www.mpssociety.org.uk.