Alfie’s story

Alfie in the Disney Reef

When Alfie was two days old, his mum and dad, Kelly and Tom, noticed that something wasn’t right with their son’s eyes. The family were referred to Great Ormond Street Hospital (GOSH), where Alfie was diagnosed with Norrie Disease – a genetic disorder that primarily causes blindness as well as progressive hearing loss and learning difficulties.

Kelly shares her son’s story: “When Alfie was two days old, we noticed something wrong with his eyes. We checked in with the midwife and she did some tests; she wasn’t too concerned until Alfie’s pupils started looking very dilated. The doctors at our local hospital thought he might have cataracts, so we came to GOSH.”  

“Four weeks later, we travelled to GOSH from our home in Essex. I remember the night before we left, Alfie’s eyes looked quite sore. It was comforting to know that we’d be meeting with such a specialist ophthalmology team the next day. They did a full day of tests and booked us in for genetic testing, which would confirm Alfie’s diagnosis months later.”

A life-changing diagnosis

“The staff at GOSH we’re amazingly sensitive and kind. There was one point in the day when the consultant told us that they thought Alfie had something more than cataracts. But before sending us to the next specialist, he told us to go out for a nice lunch. He knew then that the news would turn our lives upside down, but he wanted us to have just two hours where things were still normal. It was lovely of him to do that for us.

“Later that day, we were told that our son was born blind. Alfie had Norrie disease and glaucoma. We got a prescription for eye drops to treat the glaucoma, but Dr Henderson told us that there’s no treatment for Norrie disease. It was all very factual, but looking back, I’m grateful he didn’t tell us everything about the condition all at once. It would have been too much to handle. Paula, who works in the eye clinic, was also there. She made sure we knew that Alfie would be able to go to the same school as his brother, which was comforting.”

Looking for answers

“Over the next four weeks, we learned as much as we could about Norrie disease. It’s a genetic condition that mostly affects boys. The blood vessels in the eye don’t develop properly, causing blindness. It also leads to hearing loss in teenage years and learning difficulties.

“The first thing I thought: what kind of life was Alfie going to live? I questioned whether I had done something wrong and how we were going to cope as a family. I had never met anyone who was blind and knew nothing about what life was like without your sight. Not knowing what the future would hold, as well as the word ‘disease’, made me think the worst.

“I also contacted another mum, Wendy, whose son also has Norrie disease. Wendy told us that her son goes to mainstream school, which gave us hope. We also spoke about how little information there was for families like ours and how there didn't seem to be much research into the condition. So together, with another mum Theresa, we decided to start the Norrie Disease Foundation.”

Ongoing support from GOSH

“Being at GOSH brings back a lot of difficult memories, but we love going back. I honestly don’t know where we’d be without them. We first came to the hospital because of Alfie’s eyes, but we now only go to ophthalmology once a year. Alfie’s eyes don’t change very much, but their Dr Wong monitors their size and condition to make sure they’re comfortable for him.

“Our more regular appointments at GOSH are with audiology. As far as we can tell right now, Alfie’s hearing is okay, but it’s really important that it’s monitored regularly.

“We also see Dr Sargant who specialises in neurodisability and the developmental needs of children with severe sight loss. She’s amazing. She also put us in touch with Erica in our local Specialist Teaching team who has been Alfie’s qualified teacher of children with vision impairment (QTVI) ever since. She supports us as a family as well as Alfie’s teachers, and attends Alfie’s appointments at the Developmental Vision Clinic. We would be totally lost without her and Dr Sargant’s support.”

Overcoming challenges

“As well as being born blind, Alfie’s development is also delayed. He really struggles with his speech and was very late walking, not taking his first full steps until he was nearly three years old. He gets frustrated with his lack of speech sometimes, but it doesn’t really stop him. He just wants to learn and work things out for himself. He's very determined to do anything he’s sets his mind on, and he will do it.

“Alfie also has very low muscle tone. When he was younger, he really struggled with his weight. He’s still underweight, but he now has a massive appetite. Trying new foods and getting enjoyment out of eating is such a positive sensory experience for him.”

A big brother’s love

“When Alfie was first diagnosed, I worried whether my boys would play together. I feared that Harrison, his brother, would miss out on a relationship with his brother, but they’re amazing together.

Harrison has taken it on himself to find different ways of communicating with Alfie. He describes everything to him, sometimes better than his dad and I do, and he loves reading to Alfie. He’s also teaching him how to play football with a ball that has a little bell on it.

A promising future

“Alfie is very cheeky. He’s a clever boy that teaches us every single day. He used to get so frustrated when he was younger, but as he’s grown, he just gets on with it. He’s always had his brother who he loves, and we’ve never treated him any differently than Harrison. I wouldn’t want him to ever think that there’s anything that he can’t do. And he copes so well. He’s starting to find his voice and be more confident in his environment.

“We’ve been really lucky. Alfie has been going to a mainstream pre-school that’s on the same grounds as Harrison’s school. I was terrified to leave him on his first day, but school has opened up a whole new world for Alfie. Now Alfie is preparing to move to the same school as his big brother in September. We are really looking excited for his new adventure.

“Our hopes for Alfie’s future are for him to continue to be happy and gain independence. I also pray that he can continue to enjoy his love of music by not losing his hearing. He had already been robbed of one sense; I will do everything I can to stop him loosing another.”

Hopes for the new Sight & Sound Centre

“We hope the new Sight and Sound Centre will have spaces that Alfie can explore while we wait for his appointment. Having these new outpatient facilities, designed with children with hearing and sight loss in mind, will mean that Alfie will have more concentration for his tests and his specialists will get more out of him. He’ll be more focused, and less likely to get bored and want to explore all the cupboards in the consultation room!

Disney Reef

Alfie’s dad Tom says: “Normally, Alfie doesn’t cope well with his visits to GOSH, but today was amazing. I would go as so far as to say it was easy! When we arrived, we took him to visit the Disney Reef before his appointment.

“After a two-hour journey, Alfie instantly knew where he was. He spent ages exploring all the tactile fish and objects. He climbed and was free to explore in a safe environment. It was quiet too, which made him instantly a whole lot calmer than when we first arrived.

“When we went to Alfie’s appointment afterwards, he let the consultant examine him with no fuss for the first time. Usually, Kelly and I have to hold him, and he cries. It’s a huge stress for all of us. But visiting the Disney Reef beforehand made this process a lot easier. I think because it’s quiet and lots of tactile parts for him to feel. He was also able to burn off some energy and any anxiety he had about being at the hospital was instantly lifted.”