Caudal regression syndrome

When Ruth gave birth to her third child, Luis (pictured below right with Ruth), she knew something was wrong straight away. Within hours, they were transferred to Great Ormond Street Hospital (GOSH) for Luis to have a specialist operation. Here, Ruth talks about how far they’ve come since Luis was born.

"Luis was my third child – I already had two healthy boys. Before the birth, our local hospital told us that he may have fluid on his kidneys. They told us not to worry, he might just need antibiotics when he was born. 

"The first time I knew something was wrong was after the delivery, when the midwife lifted him up. All I could see was the back of him, and he had no anus, no bottom. You could see straight away and I just kept asking, 'What’s wrong with him?' It was such a shock. 

"Within hours, we were dashed to GOSH in an ambulance. His bowel hadn’t grown properly so we couldn’t feed him and he couldn’t go the toilet. Instead, he needed an operation straightaway to create a stoma (an artificial opening constructed by stitching the bowel to the abdomen to allow faeces to leave the body). That’s when our journey started.

The road ahead

"We were home a week later and to be honest, after that first operation, I thought that it was straightforward. But then, as details of our next appointments came through and the doctors at GOSH tried to establish the extent of Luis’ problems, other things began to unfold. 

"He had a lot of examinations and X-rays, and we began to learn more about what was happening. It wasn’t just his bowels, he also had other problems. He was late to walk and when he was still a baby, we realised that he wasn’t emptying his bladder. That’s when we understood things were a lot more serious than we’d anticipated. 

"Luis was diagnosed with caudal regression syndrome, also known as sacral agenesis. It’s not very common, and affects one in 25,000 births. It occurs when the sacrum - at the base of the spine - is underdeveloped in the foetus. It can have minor effects or, as in Luis' case, cause much more adverse problems. 

"As a family, the news knocked us for six. You never think it’s going to happen to you so when it does happen, you ask yourself why. It took a long time for us to get our heads round it. 

"Sometime you feel as though you're on your own, but we have a fantastic family behind us. You need that when you’re going through this. My sister regularly fundraises for GOSH, because it has been such an inspiration and the amazing work they have done has had such a positive impact on Luis’s life.

"Luis has two older brothers, they have been great, and I’ve since gone on to have another child - another boy, who’s very lively!

Ongoing treatment

Photo of Ruth and Luis
Ruth and Luis were dashed to GOSH within hours of him being born

"Luis is 14 now, and looking at him, you’d think he was fine. But he’s had a lot of surgery and faced so many hurdles. He’s so strong though, he just bounces back every time. I am so proud of him and the strength he has shown, he is amazing.

"The biggest thing for him was accepting his condition. He hated coming to hospital at first but over time, he’s realised that getting treatment does help him.

"He’s incontinent and has a Mitrofanoff, a channel into the bladder through which a catheter is passed to empty out urine. We did hope to get rid of his stoma, but even though he had the ACE procedure (to enable him to wash out the bowels instead) he couldn’t get on with it. He was in primary school and was really struggling. He was really unhappy with it. He said, 'This isn’t the life for me mum' so he went back to the stoma. It was his decision.

Coping with school

"Luis’ had a lot of time off school and faced some really big hurdles. He also had counselling. Physically, he’s not on par with others his age. His left side is more affected than the right - he’s got little muscle in his left leg, and he’s very thin and short in stature so needs to take growth hormones.

"Recently, Luis got bladder stones and that caused a lot of problems. He could hardly move and couldn’t do a lot of things he enjoys, like sport. Once they were removed, he was so relieved. Luis has now been referred to the Royal National Orthopaedic Hospital in Stanmore. One of his legs hasn’t grown as much as the other and he has scoliosis (curvature of the spine). We’ll be bouncing between there and GOSH for the months ahead.

"The team at GOSH really spoil Luis when he’s in the hospital. Before his most recent operation, we bumped into one of the nurse specialists who has known him since he was a toddler. As soon as she saw him, she flung her arms round him, gave him a big cuddle and said ‘I know them curls!’ 

Looking to the future

"We went to the Paralympics last year, and that’s inspired Luis a lot. We’re now looking for an athletics coach so he can try and do something at his level. If you ask him what he wants to be when he grows up, it’s either an aspiring athlete or a chef. He’s doing a GCSE  in cooking and has actually taught me quite a few recipes!

"I would say to any parent in a similar situation that it is a journey you embark on. There are ups and there are downs, but we’ve come out of this experience quite positively thanks to the strength that we get from GOSH.

"When asked for his thoughts on his experience, Luis says, 'As a child you would never ask to be in this position, but I was very lucky to be treated at GOSH. They have changed my life. It’s been really hard at times, but I wouldn’t have wanted to be anywhere else. Thank you.’

"The nursing staff, the doctors - they are amazing. Without the support of GOSH and our local doctor, I don’t know where we’d be today. From the bottom of our hearts, we say a huge thank you.”