Lily was born in May 2017.

Three years after her birth, we suspected that Lily might have autism and consulted our local paediatrician. The paediatrician suspected the presence of other underlying conditions, such as biotin-responsive Basal Ganglia Disease, and referred us to the Evelina for further testing. During their evaluation, they observed alterations in Lily’s MRI brain scans and subsequently recommended genetic testing at Guy’s Hospital.

In January 2024, after an extended period of waiting, Lily received the diagnosis of Mitochondrial Disease MT-ND1. This had been passed down through the maternal line. The characteristics of Lily’s mutation are consistent with Leigh Syndrome.

Currently, Lily attends a special needs school, where she has received unwavering support since her diagnosis. Additionally, she undergoes weekly physiotherapy sessions at school.

At The Evelina Hospital in London, she is required to have her organs monitored regularly, including her kidneys, liver, heart, hearing, sight, and more. We have recently been referred to the Rare Mitochondrial Diseases service at Oxford University Hospitals for even more thorough monitoring.

We have observed several concerning symptoms in Lily, including rapid fatigue and slurred speech, and to assist with her gait, she uses a walker in school. She relies on a wheelchair for most outdoor activities. Her mobility deteriorates as she becomes increasingly fatigued.

Despite these challenges, Lily remains remarkably resilient. She never moans, complains, or becomes upset about her illness. Everyone consistently expresses their admiration for her positive attitude.