Mum of Northampton baby with one-in-a-million genetic disorder plea for charity donations

Freddie Mason-Perkins, 19 months old, has an extremely rare genetic disorder called Trichothiodystrophy (TTD), which affects one child in a million. He was born prematurely at 28 weeks, weighing 2lb 5oz and has many complex health problems from his heart and lungs, to his brain, skull, skin, eyes, stomach and ability to eat. At 19 months old he weighs just 4.98kg

Last year Freddie was admitted to London’s Great Ormond Street Hospital (GOSH) for six months which meant his mum, Carlie Perkins, 34, was constantly by his bedside. Freddie was discharged from GOSH in May and now sleeps at NGH and comes home during the day.

In September, Carlie, who wants to eventually set up a charity for baby Freddie, is urging kind-hearted fundraisers to sign up for Jeans for Genes day on September 21 and to pledge funds to 500,000 children born in the UK with rare genetic disorders.

Mum-of-four Carlie described Freddie's birth: “I saw him briefly before he was whisked away to the special care unit. He was tiny and bright red with shiny skin. He was intubated to help with his breathing. He was born covered in a shiny membrane called collodion membrane – which led the consultant to initially suspect he had the skin disorder Ichthyosis.

“The next day he was transferred to Leicester Neo-Natal unit and I followed 24 hours later.

"Nobody could tell me why he was born so early."

Once home, Freddie was feeding but not gaining weight – he weighed just 3lbs. Carlie attended monthly outpatients’ appointments at GOSH for his skin and failure to thrive.

Six months later, while admitted to NGH with a chest infection, Freddie’s body ‘crashed’, and he stopped breathing.

He was resuscitated, a breathing tube was fitted, and he was transferred to Nottingham as it was the nearest hospital with available intensive care cots.

Now, Freddie has reduced myelin, the white matter in the brain, and craniosynostosis, a condition where part of the skull is fused, which changes the growth pattern of the skull, damaged lungs and chronic lung disease.

The poorly tot also suffers from problems with his bones, he can’t straighten his legs fully and has had two hernias corrected.

He still has skin problems, very low white blood cells, a condition called neutropenia, which lowers his immune system and has had EIGHT blood transfusions.

Carlie added: “The genetic disorder is so rare that nobody can say how badly affected Freddie will be in the future. It is just wait and see.

“Freddie is such a happy little boy – very sociable, he babbles and he’s always smiling.

"He loves interacting with people and he likes to play with his siblings. His favourite toy is a rattle, which he likes to chew on now that he has 12 teeth. He likes to go in a bouncer.

“I read to him, play him classical music, we watch TV together – his favourite show is Paw Patrol. With all he has to cope with, Freddie still smiles and laughs.”