“I first noticed something wasn’t right with Piper when she was two weeks old,” says Jade. “She didn’t seem to be tracking or focusing on anything. At first, it was hard for our local GP and midwives to determine whether these symptoms were down to Piper’s age and developmental stage, but eventually, at 12 weeks old, she was referred to an eye specialist.
“The following week, after an emergency appointment, Piper was diagnosed with optic nerve hypoplasia (ONH). In simpler terms, this means that Piper’s optic nerves didn’t fully form during pregnancy and are over 50% smaller than they should be. The optic nerves are the pathway that lets your brain see what your eyes see.
“At six months old, Piper had an MRI scan on her brain, which eventually confirmed that she had ONH and septo optic dysplasia (SOD), the name given to group together two or more conditions that are present: ONH, midline brain abnormalities and pituitary gland abnormalities. In Piper’s case, it was the combination of all three. SOD is a rare condition that affects around 1 in every 10,000 births. Rarer still, only one-third of these children diagnosed will have all three features, like Piper.”
“Writing has helped me come to terms with Piper’s diagnosis,” says Jade. “My blog, Through Piper’s Eyes, documents her condition. She’s also such a happy baby, which helps too. She loves music and spending time in her sensory space, a cosy and quiet place that my partner, Stevie, and I built for her, painting and adding lights and making a sensory wall that she can explore. Having a big family with four children, we thought it was important that Piper had a place she can go to for some quiet time.
“Our three other children have adapted to Piper’s condition better than we could have ever expected. They each spend time alone with her in her sensory space, using their hands and Piper’s hands so that she can feel what they’re talking about or playing with. If she gets upset, they sing to her, which instantly soothes her. I’m so grateful that Piper has older siblings, it gives me such peace of mind that throughout her life she will have the most loving and caring siblings to watch out for her.”
“Arriving at GOSH was very surreal. I’d heard so much about this wonderful hospital, but I never expected I’d take one of my own children there. It was bittersweet in a way, as we didn’t want to have an unwell child, but we were so grateful she was being cared for at GOSH. So far, the reputation of the hospital has lived up to our expectations. In fact, we couldn’t ask for more support than we already get from GOSH.
“Piper’s consultant, Professor Dattani, who specialises in SOD, is the most wonderful man. He’s unbelievably knowledgeable and he makes us feel safe when we see him. He runs an SOD group for all the parents and carers of children with the condition, which is also attended by different professionals, to talk to us about the condition and any progress they are having in looking for future treatments.
“The endocrine nurses are also the best nurses I’ve ever come across. Sally Tollerfield, Abigail Atterbury and Jessica Batterbee have all gone above and beyond with their care and help. They’re always on the other end of the phone and they’ve fully involved me in all the decisions made regarding Piper so far. If there was a medal for ‘best nurses’, they would win it every time.
“Piper also sees the developmental vision team at GOSH, a team of paediatricians and people who specialise in children with sight loss. They interact with Piper and speak to us about her development. They do a few tests themselves to check her sight, her muscles and body, then use this information to score her on the Reynell Zinkin Scales (developmental scales for visually impaired children) and then advise us what we should work on at home so she reaches her full potential.”
Dr Jenny Sloneem, Piper’s clinical psychologist, speaks about the developmental vision team, and how funding for a new Sight and Sound Centre will support patients like Piper.
“Our service is to support children with severe or complex sight loss. We provide guidance from the earliest days post-diagnosis and help parents to interact with their babies and young children to ensure they reach their full potential. We undertake play based assessments of development including the Reynell Zinkin Scales for babies and young children with severe vision impairment. The Reynell Zinkin Scales are standard assessments that cover early developmental steps of non-verbal understanding/cognition as well as language comprehension and expression.
“Children like Piper will benefit greatly from state-of-the-art facilities and teams at the new Sight and Sound Centre, supported by Premier Inn, as well as having the multidisciplinary supports that include our developmental vision team. The new centre will raise the profile of the needs of children with sight loss nationally and internationally, and we are delighted that GOSH Charity is giving such support to them.”
“GOSH Charity has been fundamental for our team through also helping to joint-fund a research project into early intervention. It is now available nationally after results prove it to be more effective than other routine care. After receiving early diagnosis at the new centre, parents will be informed of the programme so that they can get early intervention from their local services.
To help families like Piper’s, we’re building a state-of-the-art Sight and Sound Centre at GOSH. Set to open in 2020, the centre will be the first dedicated medical facility for children with sight and hearing loss in the UK. Learn more about the centre here.