Freddie's story - Jeans for Genes

Freddie's story

Freddie Mason-Perkins really is a one in a million child. He was born with the genetic disorder Trichothiodystrophy – so rare it affects just one child in a million. Trichothiodystrophy affects so many parts of little Freddie’s body – from his heart and lungs, to his brain, skull, skin, eyes, stomach and ability to eat. At 15 months old he weighs just 10lbs.

Freddie has been in hospital since November 2017, transferring to London’s Great Ormond Street Hospital that December. Freddie’s mum, Carlie Perkins, 34, hasn’t been back to her home in Northampton since. Mum of four Carlie says: “Freddie went into hospital on November 11 and I haven’t been home since. My children come to see me in hospital when they can. It is difficult, but you have two choices. You either go crazy or you get on with it.”

In January 2017 Freddie was born extremely prematurely at 28 weeks, weighing 2lb 5oz. He was delivered by emergency caesarean section as he was too small and weak for doctors to risk a normal delivery. Carlie recalls: “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. In his first week the collodion membrane peeled off and he looked normal with just a bit of dry skin on his back. He had very dark coarse hair on his head – unusual as my other children are fair. That hair then started to fall out.”

Freddie had a specific care plan from GOSH for Ichthyosis. He slept on silk sheets and had to be creamed all over every hour. He was feeding through an NG tube and had a breathing tube. He spent two weeks in Leicester and six weeks in Northampton hospital’s neo-natal units, until he was feeding independently and able to go home. 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. The paediatricians were at this point still following an action plan for Ichthyosis. A nasogastric feeding tube was fitted again in April to allow Carlie to top up his breastfeeds with a high calorie formula.

Then in May Freddie had a sickness bug and was admitted to GOSH. His skin was very dry, his eyelashes and eyebrows had fallen out and he was still under 4lbs in weight. “The doctors thought he had Netherton Syndrome, a rarer form of Ichthyosis that also affects growth,” says Carlie. “It’s a disorder which affects new-born’s hair and skin, but a skin biopsy came back negative. However, he did have a severe zinc deficiency, the lowest the doctors have ever seen. If you are zinc deficient it affects the skin and hair, so it seemed logical. He was given supplements and reflux medication and started to improve. I took him home feeling so positive that we had found the reason.

“He was happier and healthier, but he was still growing at a very slow rate. I used to dread going to the baby clinic every Monday to get him weighed, because the weight gain was so minimal, often just 5g a week. Then I’d speak to the GOSH dietitian on a Tuesday. It was so frustrating as I was breastfeeding and topping up with formula little and often and then introducing solids, and still no improvement.” Six months later, whilst admitted to their local hospital 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. It was the nearest hospital with available intensive care cots. Since then, Carlie’s three other children –  Alfie Mason-Perkins, three, Ella and Phoebe Perkins, 10 and seven – have been looked after by their grandparents during the week, with the girls going to their Dad’s house at weekends.

Freddie had a pneumothorax (a collapsed lung), bronchiolitis and several viruses in his lungs. He was back on a ventilator. Carlie explains: “At first he was intubated again and on steroids as his throat was so swollen. The doctors tried to take him off the breathing machine, but he was struggling to breathe and screamed the whole time, so they suspected his reflux was bad. By now he had lost so much weight and was weak. It was all a mystery why he was so ill. A few weeks later he was able to come off the ventilator and transferred to GOSH, where he has been ever since.

“There the geneticist went through all the conditions he had. Heart, lungs, eyes, skin, hair, hernia, developmental delays, skull, brain and his low weight. “The geneticist took a hair sample. The results came back on New Year’s Day 2018, that he had tiger tail banding – where the hair looks stripy under a microscope. It was a positive test for the genetic disorder trichothiodystrophy (TTD).” TTD is a DNA repair disorder, where UV damage to his DNA can’t be repaired. It is so rare there are only thought to be 100 cases reported worldwide. It is a complex condition with a wide spectrum of health problems, affecting many parts of the body. Initially, babies are born very small and slow to grow. They suffer from skin problems and their hair falls out. When it grows back it is often coarse, wiry and breaks off. Eye conditions are common plus abnormally ridged fingernails and toenails.

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. His lungs are damaged and he has chronic lung disease. He has feeding problems and such severe reflux he is now ‘nil by mouth’ and receives nutrition through an intravenous line into his veins. He has the eye condition nystagmus and mild cataracts. He has problems with his bones, can’t straighten his legs fully and has had two hernias corrected. He still has skin problems. He also has very low white blood cells, a condition called neutropenia, which lowers his immune system. He’s had eight blood transfusions.

Photo sensitivity is a large part of Freddie’s condition. He must avoid direct sunlight and if he is in strong sun for any time his skin goes red, sore, tight and shiny and peels off. Carlie, who is separated from Freddie’s father, says: “Freddie’s needs are so complex. It was a relief to find out there was a condition that tied it all together. I’ve managed to connect through social media with families across the world and I found the spectrum of the condition is so broad. There are children who have sadly passed away, there are children who are very affected and others who are less so.

“Freddie looks like a normal baby, just like his big brother, but he is very tiny. He is only 10lbs. Freddie is developmentally delayed, he’s just about sitting up unaided. That could be partly because he was so premature or the genetic disorder, we don’t know. He has been in GOSH waiting for a Mic-Key gastrostomy button and Nissen fundoplication, which will prevent further damage to his lungs from the gastric reflux. Now he has had this, he can soon start being fed through his stomach and orally too.

“We have just found out that he has a heart valve problem and his heart is weakened. He will need an operation to fix the 6mm hole in his heart, which he was born with, but he’s not strong or big enough to go through it. He needs to be 6kg in weight first.”Carlie adds: “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.”