{"id":1756,"date":"2026-05-07T13:52:33","date_gmt":"2026-05-07T13:52:33","guid":{"rendered":"https:\/\/fund.southampton.ac.uk\/innovation\/?post_type=case-study&p=1756"},"modified":"2026-06-01T14:16:38","modified_gmt":"2026-06-01T14:16:38","slug":"from-fear-to-hope-one-familys-journey-with-childhood-albinism","status":"publish","type":"case-study","link":"https:\/\/fund.southampton.ac.uk\/innovation\/blog\/case-study\/from-fear-to-hope-one-familys-journey-with-childhood-albinism\/","title":{"rendered":"From fear to hope: One family\u2019s journey with childhood albinism"},"content":{"rendered":"\n

When most mothers gaze into their newborn\u2019s eyes, they feel a sense of wonder. But Carly Thorpe was filled with fear. As she looked at her baby daughter Nevaeh, she noticed something unsettling – her tiny eyes quivered and darted from side to side. <\/p>\n\n\n\n

\u201cCall it mother\u2019s instinct, I just knew something wasn\u2019t right,\u201d Carly says. \u201cI could see her eyes were moving from side to side really fast. I was told it was simply her eyes developing, but deep down, I feared she was blind. I was so worried.\u201d <\/p>\n\n\n\n

At the time, Carly and her partner James were living in Dubai, thrilled to become new parents. Nevaeh arrived healthy and beautiful, but by the time she was eight weeks old, Carly could see her eyes were not as they should be. <\/p>\n\n\n\n

\u201cIt was like there was nothing there \u2013 she couldn\u2019t focus. It was incredibly worrying. I just kept thinking \u2018what if she is blind\u2019. It was the pandemic at the time, and I was very alone. I didn\u2019t know anything about sight conditions, so I started to research. I was told that it could be ocular albinism, but we didn\u2019t have any albinism in the family and didn\u2019t know we could carry the genes. We were able to get her glasses, but she couldn\u2019t be in the sun, we had to stay indoors all the time, which was really isolating.\u201d <\/p>\n\n\n\n

By 2023, Carly and James had moved back to Jersey, where Carly grew up, so they could be surrounded by family. Nevaeh was referred to the island hospital, where clinicians helped the couple understand albinism better.  <\/p>\n\n\n\n

Albinism is a genetic condition where individuals have a reduced amount of melanin, resulting in pale skin and hair. Many people don\u2019t know that it can severely affect the eyes, but it happens because melanin is involved in the development of the retina, the thin layer of cells at the back of the eye. A common feature of albinism is nystagmus, which causes rapid, uncontrollable eye movements \u2013 up and down, side to side, or in a circular motion \u2013 and can result in problems with balance and coordination. There\u2019s no cure, but there is a range of supportive treatments, for example, wearing glasses, taking certain medications and even eye surgery.  <\/p>\n\n\n\n

\u201cWe started to understand more about albinism and how it will affect Nevaeh. For example, she won\u2019t be able to drive\u201d, Carly explains. \u201cBut we still didn\u2019t know what she could see. We received a lot of support and continued to do our own research.\u201d <\/p>\n\n\n\n

Carly then became pregnant and was told there was a 1 in 4 chance the new baby could be born with albinism.  <\/p>\n\n\n\n

\u201cI wasn\u2019t too worried because I thought she couldn\u2019t be worse than Neveah, but she is.\u201d <\/p>\n\n\n\n

Novah was born in 2024, and both James and Carly knew she had albinism straight away on account of her white hair \u2013 Nevaeh\u2019s hair is red. It\u2019s become very clear that Novah\u2019s eyesight is worse than Nevaeh\u2019s, which has been a real challenge for the family.   <\/p>\n\n\n\n

\u201cFor the first six months after Novah was born, I was a mess. We were so concerned she was blind. She couldn\u2019t register anything. She has now been prescribed glasses, but it\u2019s so hard for her to get her to wear them. We always have to have the hood on her buggy or need the shade all the time. We miss out on a lot of outdoor activities with friends.\u201d  <\/p>\n\n\n\n

Novah was referred to University Hospital Southampton after she became severely constipated. It was thought she might have Hirschsprung’s, a condition that affects the large intestine (colon) and is associated with mutated genes, just like albinism.  <\/p>\n\n\n\n

During Carly\u2019s research into albinism, she discovered Dr Jay Self, a Consultant Ophthalmologist at University Hospital Southampton and Associate Professor of Paediatric Ophthalmology at the University of Southampton. Jay is one of the UK\u2019s leading experts in vision disorders affecting children, and when Carly was liaising with doctors about Novah\u2019s tests for Hirschsprung’s, she copied in Jay in the hope he might be able to help with her albinism.  <\/p>\n\n\n\n

Jay got in touch and invited both Novah and Nevaeh for tests in Southampton. \u201cI was delighted when Jay emailed me back. It felt like someone was on our side and we could start to help our daughters navigate what is going to be a tricky life.\u201d <\/p>\n\n\n\n

Tests have confirmed that Nevaeh has oculocutaneous albinism type 2, and Carly is expecting Novah\u2019s results in the autumn, but she thinks it will be the same diagnosis. Both girls have nystagmus and astigmatism (blurry vision) and have been prescribed glasses to improve their eyesight. Novah cannot see more than one metre away and has an astigmatism score of -4.75. Nevaeh\u2019s astigmatism score is -2.  <\/p>\n\n\n\n

To check if treatments for nystagmus and astigmatism are working, doctors have to rely on standard vision tests, such as static letter charts and field of vision tests. But these don\u2019t represent real-life situations and can overestimate how good a patient\u2019s vision is. For example, when crossing a road, everything is moving, and we need to see and recognise things quickly.  <\/p>\n\n\n\n

Jay and a team of computer games experts and mathematicians have teamed up to design and test prototype games to measure if a patient\u2019s sight has improved after one of the treatments. The games \u2013 called NystagME and Amblios \u2013 allow doctors to measure how quickly someone can see, as well as how clearly. <\/p>\n\n\n\n

Nevaeh has been trying the NystagME games for a few weeks to assess whether the glasses she has been prescribed are really helping to improve her eyesight. <\/p>\n\n\n\n

Carly adds: \u201cWe\u2019ve been helping her get used to the games and it\u2019s been going well. I want her to be able to use technology. She\u2019s going into year 1 and the access and reliance on technology will grow as she gets older. We don\u2019t want her to be held back.  <\/p>\n\n\n\n

\u201cIt\u2019s been incredibly difficult, but I\u2019m now full of hope that both girls\u2019 sight can be improved. When someone like Jay is on side, it is incredibly reassuring. The whole team have been amazing. We were at a loss at the beginning, but now things feel brighter for both girls.\u201d <\/p>\n\n\n\n

Jay says: \u201cThe idea is that the games test a more realistic level of vision under time pressure, as the eyes are asked to move quickly around the screen. Once we have refined the games based on the feedback, we are aiming to use the games in clinical trials, so that as a research community, we finally understand which potential treatments actually work.\u201d <\/p>\n\n\n\n

\"\"<\/figure>\n\n\n\n

Jay and the team have also created smartphone games to help improve treatment for children with amblyopia, known as \u2018lazy eye\u2019. \u202fThis causes sight loss in young children and occurs when one eye doesn\u2019t develop a strong enough link to the brain. It\u2019s usually treated by covering the unaffected eye with a patch for a few hours a day for several months. This forces the \u2018lazy\u2019 eye to work. \u202fBut it\u2019s only successful in around half of children because experts say busy households \u2018giving up\u2019 due to the time and effort involved is a leading cause of failure. Amblyopia is far more common, and treatment is also much more likely to fail, in children from lower socioeconomic backgrounds.\u202f <\/p>\n\n\n\n

\u201cThere’s a lot of research showing that children from the lowest socioeconomic groups have access to smartphones, so using the technology people have in their hands every day makes the games accessible for everyone,\u201d says Jay.\u202f\u201cWe have a wide range of sight loss research taking place in Southampton. We\u2019re developing treatments for albinism for the first time and hope to have a clinical trial opening this coming year, with other drugs being patented by the University, which are aimed at rescuing the sight of young children. It\u2019s a very exciting time.\u201d <\/p>\n\n\n\n

Pioneering sight loss research will be one of the main focuses of the new Institute for Medical Innovation (IMI), a joint initiative between the University of Southampton and University Hospital Southampton NHS Foundation Trust. <\/p>\n\n\n\n

The \u00a3100million facility will bring together the greatest minds in medicine, computer science and engineering in the fight against devastating diseases such as cancer, dementia, infectious diseases, respiratory and allergic conditions, and sight loss. The IMI will be funded through investment from the University and a significant fundraising campaign to be launched in the next year. <\/p>\n\n\n\n

Carly fully supports the IMI, saying, \u201cWe need more research into these conditions, so to hear that the new research centre in Southampton will focus on sight loss is incredibly encouraging for me as a parent.\u201d  <\/p>\n","protected":false},"excerpt":{"rendered":"

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