Leicester couple take on London Marathon for hospital that saved their niece’s life

An aunty and uncle are running their first ever marathon for Evelina London Children’s Charity so that other families can benefit from the hospital's life-changing care.

Sarah and Danny Singh from Leicester, were inspired to put on their running shoes for their niece Sophia Singh-Chauhan. Seven-year-old Sophia had life-saving brain surgery at Evelina London Children’s Hospital when she was four-years-old.

At 18-months-old, Sophia was diagnosed with GNA01, a neurological development disorder that causes seizures and continuous involuntary movements (dystonic-choreoathetosis). At its most severe, the rare genetic condition caused Sophia to experience life-threatening movements, known as movement 'storms' (status dystonicus), that require treatment in intensive care.

Danny, brother to Sophia’s mum, Sima Singh-Chauhan, said that when these 'storms' first started happening they were in despair: "We were calling 111 and an ambulance, we didn’t know what to do or enough about the condition."

In 2021 Sophia, who is non-verbal and communicates through gestures, smiling and eye pointing, was referred to Evelina London, a leading centre for GNA01 research. This followed a period of induced comas at a Leicester hospital, where Sophia was cared for in consultation with Evelina London. Sophia’s clinician, Dr Jean-Pierre Lin, warned Sima that without deep brain stimulation (DBS) surgery Sophia would need to be continuously sedated, or the movement 'storms' would continue and worsen until all of Sophia's muscle tissue was used up.

After the family weighed up all the information, Sophia had deep brain stimulation surgery in August 2021 at Evelina London. The surgery, which is performed by a specialist multidisciplinary team including paediatric neurosurgeons from King's College Hospital, involves fine electrodes being implanted deep into the brain to target areas that control coordination of body movements and posture, acting as a 'pace maker' for the brain. Following the six-hour surgery, led by consultant paediatric neurosurgeon Mr Harutomo Hasegawa from King's, Sophia spent two months recovering in Evelina London. During this time, she celebrated her 5th birthday, and the team at the specialist children's hospital made the day special for her.

Sima, Sophia's mum, said: "It is one thing accepting your child having special needs, but a condition that is so volatile and life threatening if uncontrolled is a lot to come to terms with. Sophia continues to have her ups and downs but her life is now far better having had the surgery."

Two years after her life-changing surgery, Sophia is able to enjoy being a seven-year-old – she loves swimming, reading, cooking, and cheering on her football team, Leicester City. Although she continues to have much milder involuntary movements, these are less frequent, and she no longer needs continuous sedation medication.

Danny, an IT infrastructure engineer, said:

Sophia is an amazing little girl – she has the most wonderful smile, is always happy to see people, and laughs at things that we find funny but she can't tell us. She has a heart of gold and lights up any room.

Without the referral to Evelina London, Sophia's family say they don't know where they’d be. Sima said:

When we stepped into Evelina it was a whole different world – calm, assuring, so specialised – and we cannot thank the team enough.

In April, Sarah and Danny, 44 and 40, are taking on the 2024 TCS London Marathon to raise awareness of Sophia’s condition, whilst raising money which will enable children, like their niece, to get the incredibly specialist care and support that they need. The whole family, including Sophia and her 4-year-old sister Savannah, are travelling from Leicester on 21 April to cheer on the couple.

Sarah, a health and safety officer, said: "From a medical point of view there is nothing we can do for Sophia, so it’s great to be able to do something for the hospital that has given her so much."

Sarah and Danny, who have been married for four years, have been training together and motivating each other. They said:

We want to run it within five hours – we are determined to get that medal and get over the line for Sophia and Evelina.

Evelina London's deep brain stimulation programme began in 2003 and received funding from Guy's & St Thomas' Charity to expand, treating over 250 patients to date. The specialist multidisciplinary service includes dedicated paediatric neurologists, clinical nurse specialists and therapists and paediatric neurosurgeons from King's College Hospital. Thanks to the team’s work there is now a greater understanding of childhood movement disorders, and better standards of care for children like Sophia.

Dr Jean-Pierre Lin, consultant paediatric neurologist, said:

It is wonderful to see Sophia so happy and enjoying life. At Evelina London we are always looking at new ways to collaborate and spearhead research so that we can improve care and the quality of life for children with GNA01, like Sophia, and many other rare genetic disorders. 

Evelina London Children's Charity helps support the compassionate, trailblazing care of Evelina London, and fuel incredible moments, every day. This includes training for play specialists that help ease anxiety by bringing joy to the bedside, and helping push boundaries with ground-breaking equipment to improve treatment.

Barbara Kasumu, Executive Director of Evelina London Children's Charity, said: "It is thanks to our inspiring fundraisers, like Sarah and Danny, that we’re able to support Evelina London to provide incredibly personalised and innovative care. We are all cheering on Danny and Sarah, and know they will make Sophia so proud."

To support Danny and Sarah's fundraising, visit their respective fundraising pages.