A TODDLER with a one-in-a-million genetic disorder lives in constant darkness after the condition left him allergic to sunlight.
Freddie Mason-Perkins was born with trichothiodystrophy (TTD) which means that if the 19-month-old is exposed to sunlight his skin will burn.
The condition also means his skin’s cells are unable to repair themselves so Freddie is at high risk of developing infections.
Mum Carlie has to keep the curtains at their home Northampton drawn at all times.
Carlie, who also has three other children and is separated from her partner, said: ‘When damage is done by the sun his body doesn’t repair.
‘He got quite burned last year, just from being in the car when it was sat on the motorway in traffic for about half-an-hour.
‘His legs and arms flared up. He has got really burned like that twice before.
‘Now we keep him out of direct sunlight. UV comes in through the windows, so we have the curtains shut.
‘We will get special UV film put on the windows at home. He needs to be under his cover in his pushchair. It’s quite hard.
‘As he gets older, things will get a bit more difficult when he becomes aware of why he can’t go outside.
‘The condition is a degenerative condition. Lots of children don’t make it to adulthood.
‘I have spoken to other people around the world with children with same condition, and one child has lived to 30 with it because they avoided sunlight.
‘One of the main things that can kill children is respiratory infections.
‘Freddie likes being around people — he is very sociable.’
Freddie was born prematurely at 28 weeks weighing just 2lb 5oz and was transferred to Great Ormond Street Hospital where he has spent most of his short life.
Tests revealed Freddie had ‘tiger tail banding’ — where the hair looks stripy under a microscope — a positive test for TTD.
It is so rare there are only thought to be 100 cases worldwide.
TTD is a DNA repair disorder, where UV damage to DNA can’t be repaired so sufferers can’t go out in the sun at all.
Freddie was finally allowed home at the end of last month but his complex health problems mean he is unlikely to survive to adulthood.
Carlie added: ‘This the longest he has been at home for almost a year.
‘Because we have been in hospital for so long, I am like a nurse because of everything I have had to take on board. It’s now normal for me.
‘Freddie had a gastrostomy [a feeding tube put into his stomach] and I feed him his milk through this.
‘When he goes to sleep I connect him to his oxygen and his monitor to check he is doing OK.
‘He has to have creams because of his skin condition, and I do his eye drops and his teeth.
‘Medicine needs to go through his tube twice a day including antibiotics three times a week.
‘My friends will see me doing all the medical stuff for Freddie and they are shocked.
‘Freddie might not live a long time because he has a lot of serious problems. But for us, Freddie is just Freddie. I don’t think about what will happen down the line.’
Carlie is urging fundraisers to sign up for Jeans for Genes day on September 21 and to pledge funds to help the half a million children born in the UK with rare genetic disorders. For more visit jeansforgenesday.org