Ruairi’s story

Like most 28-year-olds Ruairi Corr wants to live an active life, travel independently and enjoy new experiences. Ruairi loves swimming, hiking, mountain climbing and has even been sky diving – all incredible as Ruairi has the rare genetic condition adrenoleukodystrophy (ALD) and is registered blind, hearing impaired and has epilepsy.

Despite his complex needs, Ruairi, who lives with parents Deirdre, 62, and Aaron, 61, in Exmouth, Devon, was eager to go away on a holiday without his parents. The family applied for the Sandcastle Trust’s programme Sandcastle Memories, which offers respite for families living with a rare genetic condition, in the form of UK breaks and days out.

The Sandcastle Trust was delighted to be able to grant Ruairi a trip to Center Parcs Longleat Forest, where – always accompanied by two carers – he had a fantastic time in the swimming pool, the spa and walking in the forests.

“Ruairi absolutely loved Center Parcs,” says his mum Deirdre. “He enjoyed the swimming so much and went up and down the rapids repeatedly. He had massages, which relax him and loved the spa and jacuzzi hot tub. He did so much walking his carers kept getting lost, which he thought was very funny. His favourite place to eat was the Pancake House, where he had fabulous pancakes filled with cream and chocolate. He also did an ‘escape room’ activity. It is all brilliant for his fitness and he thrives on being active and busy. We can’t thank the Sandcastle Trust enough.”

Ruairi’s diagnosis came at the age of five when the family received the devastating news that not only Ruairi, but also his younger brother Tom, who was four, had ALD.  ALD is a very rare, inherited genetic condition that causes the build-up of very long chain fatty acids in the brain. This build-up destroys myelin, the protective sheath that surrounds the brain’s neurons, which are the nerve cells that allow us to think and to control our muscles.

Only boys are affected, with mothers often carriers, as was the case for Deirdre, who has mobility difficulties herself. The first sign is that healthy boys start to regress, followed by deafness, blindness, seizures and loss of muscle control. For Ruairi the first signs came around the age of five when he developed processing issues, was diagnosed as being on the autistic spectrum, and was then hospitalised with adrenal problems.

“When the boys were diagnosed we were living in Ireland and we were told it was a terminal illness,” explains Deirdre. “I started researching ALD and found a specialist doctor in Bristol and found out a bone marrow transplant could halt the symptoms. We were initially refused the transplant for Ruairi, when he was six, whereas Tom, then aged five, was at the right stage. We persuaded the doctor to repeat the tests for Ruairi and the consultant agreed to the transplant, whilst warning us the future could be bleak and we had three other young children to look after.”

The bone marrow was donated for transplant by big sister Aisling, who was aged seven. It saved the boys’ lives, but it took 12-18 months to take effect and, in that time, Ruairi lost his sight and his hearing. The treatment was successful for Tom and he is healthy.

When Ruairi was seven the family decided on a major life change, moving to Exmouth so Ruairi could attend a school for the blind in Exeter. Over the years his brother and two sisters went on to live independent lives, something Ruairi found difficult to cope with. With lots of energy and physically fit Ruairi was eager to enjoy new experiences, including going on holiday.

Deirdre says: “Ruairi has carers 24/7 and can’t do anything alone. He says he’d love to be able to walk out the front door on his own and say, ‘see you later’. He is so aware of what is going on and it makes it difficult for him. He thrives on being busy. Ruairi volunteers once a week at a horticultural centre and he has turned our back lawn into a mint garden, which he loves as he has a heightened sense of smell. His carers have become friends of the family; he bakes with one, one carer does woodwork and another is a yoga teacher. He uses an adapted bike to take part in virtual cycles; he has climbed the Three Peaks and Carrauntoohil, the highest mountain in Ireland, a real challenge as streams and rocks are hard when you can’t see. For his 21st birthday he did a sky dive, accompanied by his sister who is a nurse!

“Going to Centre Parcs has had a huge impact on Ruairi’s wellbeing. He came back so happy and wanting to tell us all about it. He gets on so well with his carers – they can have a laugh. The break really lifted his mood and had a positive effect on his mental health. He looks a lot better for the break; brighter, happier and a better colour. It makes him feel like he has an independent life like his siblings.”