Chronic Granulomatous Disease: rare genetic disorder leaves boy, 5, with just one working lung

A five-year-old boy has been diagnosed with a rare genetic disorder which means playing outside in the fresh air could kill him.

Albie Tilford’s family were told last month that he has Chronic Granulomatous Disease (CGD) - leaving him in need of a life-saving bone marrow transplant.

CGD is a disorder which prevents white blood cells from killing bacterial or fungi infections.

As a result of his diagnosis, Albie has developed pneumonia on his left lung - an infection which the body is unable to fight.

With just one working lung, his mum Rebecca Tilford, 34, has been warned by doctors exposure to bacteria or fungi could be fatal.

‘Every day we live in fear’

His parents say it means he can only go outside “a little” - but they have to avoid crowds, water, grass, wood chips, loose soil and building work.

They are forced to carry masks in case someone starts mowing on his rare trips out, and if he’s playing in the garden and they hear a lawnmower, he has to come in.

Rebecca, a teaching assistant from Preston, Lancashire, said: “Everything’s a danger to Albie now.

“Every day we live in fear of him breathing in something or coming into contact with bacteria which could quite literally kill him.

“He does go outside a little but we have to make sure he doesn’t go near crowds of people or near stagnant water.

“He also can’t go anywhere the grass is being cut, where there are wood chips, anywhere soil is being kicked around or anywhere building work is being done.

“The medicine he is on makes his skin super sensitive to the sun so he always needs factor 50 and a hat on if we do venture out.

“He’s still only got the one lung so we’re super cautious at the moment but as a rule people with CGD can go outside but have to take a lot of precautions.

Rebecca said among the measures they take are carrying high protection face masks, saying: “We do carry FFP3 masks every where with us in case anyone starts mowing, and if he’s out in the garden and people start mowing we bring him inside and close the windows.”

‘The diagnosis shocked us to our core’

Albie first became ill in November last year after he began struggling to breathe at home.

Rebecca rushed him to hospital, but he gradually improved and was discharged a few weeks later.

When Albie returned home, it wasn’t long before he started having trouble eating and walking without becoming breathless again.

This became worse and worse, before Rebecca decided to take him to hospital again to identify the problem he was having.

She was told at first his struggles were simply anxiety related and nothing more, but, unsatisfied with this diagnosis, Rebecca sought the opinion of another doctor.

And, as Rebecca expected, after being examined a third time, it came to light that Albie was suffering from pneumonia on his left lung.

He was referred straight to Blackpool Victoria Hospital where he was put on antibiotics to fight the infection.

But, after finishing the course, there was no improvement and Albie was still extremely weak.

He was then referred to Manchester Children’s Hospital, where he underwent lung physio and was put on a ventilator to assist his breathing.

They conducted a lung biopsy, which tragically revealed he was living with CGD.

This explained why Albie’s body was not responding to treatment, as CGD sufferers are unable to fight off bacterial and fungal infections - such as pneumonia.

Rebecca, a mum of two, said: “The diagnosis shocked us to our core.

“Up until last November he was a happy healthy boy with bundles of energy - everything was fine.

“When he started struggling to breathe I immediately knew something was wrong but we were assured it wasn’t anything to be worried about.

“But in April his breathing got so bad I had to take him again, and that’s when, on the third time of asking, we found out what the root of the problem was.

“At that point though, we still felt everything would be fine.

“We thought he’d respond to the antibiotics and be up and active again in no time.

“But he didn’t - and that’s because of this genetic disorder he was born with which has only started to effect him over the last year.

“CGD prevents his body from fighting bacterial and fungi infections, and as he’s got older he’s been playing more and more outside where bacteria is everywhere.”

Albie needs a bone marrow transplant

The only chance of survival Albie has is to undergo a bone marrow transplant which, if successful, will rid him of CGD and enable his white blood cells to work properly.

But the transplant comes at a huge risk, and doctors have told Rebecca and Albie’s father, Alan Robinson, 40, he will have a 70 percent chance of survival.

Albie will also have to isolate for a year after the transplant in which time Rebecca will be his 24/7 primary care giver and therefore unable to work.

The family are concerned about their financial situation as Rebecca hasn’t been in work since April.

Alan is working 60 hour weeks, but the income is barely covering their bills and mortgage - leaving them worried they’ll soon lose everything.

Before the transplant, Rebecca and Alan want to take Albie and his sister, Jessica. eight, on holiday one last time in case their precious son doesn’t make it.

They are currently bracing themselves for the winter where bacterial infections are at their peak - but are hoping Albie can undergo the transplant before then.

The riskiest environment for Albie is when there are large crowds of people and areas with stagnant water or freshly cut grass.

‘It’s so difficult to see him like this’

The tot does go outside occasionally when it is deemed ‘safe’ but Rebecca and Alan are extremely cautious.

“We want to take Albie away before the transplant to spend some time together in case the worst was to happen,” Rebecca said.

“I can’t believe in less than a year things have got to this, but they have, and we need to find ways of dealing it.

“The hospital visits are £30 in petrol and £15 for the car park.

“That combined with me not working, and the days off Alan has to come with us, is making us worried we will lose everything.

“He will be on immunosuppressants to prevent GVHD so can’t go into school or around big crowds for around a year after.”

“I’ve set up a go fund me to help with the cost of tutors for Albie after the transplant.”

“He’s the sweetest boy and the best son a mum and dad could ask for - it’s so difficult to see him like this.

“The care at Manchester has been amazing and we’re grateful for them diagnosing him and offering him treatment so quickly.

“We’re holding out for a bone marrow transplant in the next few months which will hopefully cure him for good.

“But until then we just need to focus on doing whatever it takes to keep him safe.”

Albie’s fundraiser can be found on the following Go Fund Me page.