Sophia lives in South Yorkshire, with her two sons, Xander and Max. Xander was 6 and Max was just 3 years old when they were diagnosed with Classical Homocystinuria. Today, Xander is 17 and Max is 14.

Both boys were born naturally following straightforward pregnancies. Early on, Xander was found to have an enlarged kidney and underwent pyeloplasty surgery at just 9 months old. At that time, there was no indication of Homocystinuria. Both children were already receiving early support, including speech and language therapy, and had EHCP plans in place.

Xander met his early milestones, but difficulties emerged with toilet training and behaviour. Max was delayed physically, moving by bum shuffling and not walking until two and a half, around the time his seizures began.

The seizures quickly escalated, eventually reaching more than 150 a day. Max was admitted to hospital for EEGs, blood tests, and epilepsy medication. During this time, he experienced status epilepticus, a prolonged seizure, yet remained conscious. Doctors noticed his blood was unusually thick, almost jelly-like

On 6 August 2013, while coming to terms with Max’s epilepsy, Sophia and her husband Lee received a call: Max had a metabolic disorder, and they should bring Xander to Sheffield Children’s Hospital. There, Professor Yap and the metabolic team explained the boys’ diagnosis of Classical Homocystinuria.

The science was overwhelming, but the family focused on what could help: a low protein diet. Sophia dedicated herself to making food that was not only medically suitable but also enjoyable for her boys.

Xander adapted easily to the diet and supplements. Max initially did too, but later refused his medication and supplements. In June 2014, Max had a gastrostomy tube fitted. It was a frightening and emotional decision, but it has supported him through many serious illnesses.

Max also has Lennox-Gastaut Syndrome, a rare and severe epilepsy. His condition became more difficult at puberty until March 2023, when cannabis oil alongside his medications brought a dramatic improvement. Max is non-speaking and attends a special school; Xander attends a speech and language school over an hour away each day.

Despite the challenges, the family have never let Homocystinuria and epilepsy define their lives. They travel together and are even going on a cruise this year. Sophia hopes for enzyme therapy in the future so people with HCU can eat a normal diet.

Nearly 11 years on, the journey has been far from easy, but through careful diet, hydration, and resilience, the family has achieved excellent control of the boys’ condition—and they are proud of how far they’ve come.