Parents of Loughton girl, 8, with rare disorder, told she wouldn’t make it past two years old

A father of a ‘firecracker’ Essex girl, who is battling a genetic disorder, wakes up at least five times a night and has spent over £30,000 in a bid to save her life. Sophia Hart, 8, from Loughton was diagnosed with Type 1 Spinal Muscular Atrophy (SMA) before her first birthday and doctors said she would not make it past two years old MyLondon reports.

However, the strong youngster defied the odds and is still fighting with a new treatment helping her to stay alive. Father Gennadiy Ilyashenko, 43, has strived to save her as he took his daughter to Paris in February 2017 for her to receive Spinraza injections to her spine.

The injections, licensed by the European Medicines Agency, were not available on the NHS at the time. Despite the fact that the therapy was free in France, Gennadiy had to pay more than £25,000 for the life-saving journey.

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When Gennadiy ran out of money and had to return Sophia to the UK, he showed the doctors at Bloomsbury’s Great Ormond Street Hospital Sophia’s improvement and launched a campaign to get the drug used there. The medication was ultimately approved for use by the NHS in May 2019, and the health system called it a “silver bullet” for those with SMA.

Sophia’s treatment was not finished, however, as she still needed an “unpleasant” lumbar puncture every four months to administer the medication. Sophia attempted gene therapy in September 2022 as they explore different options, but the high viral vector dose caused her immune system to attack her liver and caused it to fail.

She was confined to a hospital bed for three months without being able to use her core muscles, which are already diminishing. Now, she needs physiotherapy for £12,000 a year just to be able to sit up.

The treatment also meant Sophia can attend school and she recently started modelling. “She’s an absolute firecracker, she’s not just laying there being inactive, she does a lot of things,” Gennadiy added.

But the cost of progress is high. Gennadiy part-funded a £25,000 wheelchair and just paid £7,000 for its 200kg replacement. Faced with more costs, the salesman with a scientific background is taking on extra work during the day to fund his daughter’s needs through commission, while waking up throughout the night to care for her.

Gennadiy and his wife Victoria – who is Sophia’s full-time carer – have tried their best to learn about her treatment, but he says becoming physios is one step too far. “There comes a point where you can’t know everything,” he explained. “We just have to put our hand up and say it’s beyond what we can do at home.

He added: “We do our best as a family, but if I am honest we are struggling, not just financially. She can’t turn herself during her sleep. I have to turn her in the bed at night and I have been doing that for five years. Imagine being woken up five to eight times a night. I have to go to work in the morning.”

The family’s GoFundMe is still short of its £4,280 target, so Gennadiy said he will have to take on more work to make ends meet. “The fundraiser is where it is, I will just have to work harder and longer hours to get what she needs,” he said.

Writing on GoFundMe, the family said: “Our long-term plan is to offer Sophia at least a weekly session with private physio (more if funding allows) to enable the best possible rehabilitation process. In addition to that, we will also have to purchase physio equipment, hydrotherapy, and wheelchairs and build a dedicated physio space. With £80 per physio session (one hour), we cannot maintain physio independently in the long term.

“As much as it embarrasses us, we are asking for help once again from the community. We realise that the cost of living has impacted everyone in many ways, so please do not feel bad if you are not able to assist financially, all we ask is that you share this fundraiser so we can reach as many people as possible.”

You can support Sophia’s fundraiser here.

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