A mother whose baby son was treated for his extremely rare genetic condition at St Thomas’ is raising money for possible treatment in the US.
Single mum Lucinda Andrews’ son Leo was born in March this year with a problem affecting his TBCD gene – a condition that only sixteen people in the world are thought to have.
The condition is very complicated and affects the development of Leo’s brain, central nervous system and muscles. Eight months after birth, he is still learning to support his own head. It is unclear what Leo’s life expectancy is.
The condition is so rare that even the specialists at St Thomas’ were left baffled – and Lucinda said that she was told “to enjoy the time she had left with Leo”. There is no treatment available on the NHS.
“But as a mother, I couldn’t accept this,” said Lucinda, from Chatham in Kent. “I took it upon myself to become an expert in his condition. I scoured the earth to look for someone who could be helpful for him.”
Eventually she found a biotechnology company in the US who said they could try adapting different medicines to see if they would work on stabilising Leo and even possibly fixing the genetic problem. This approach has reportedly worked on other genetic conditions.
But this treatment would come at an extraordinary cost – £220,000. Lucinda has raised just over £13,000 but says fundraising efforts have stalled recently. She is also working to register a charity, which would allow her to apply for grants from larger organisations.
Leo spent three and a half months in St Thomas’ after “taking a bit of a wobble” when he was two weeks old.
“We were brought into a side room in the hospital and given the option to remove him from the supportive machines that he was on. It was put to me that if he had deteriorated this month in two weeks, that he didn’t have much time. They told me that I could take him to a children’s hospice rather than take him home.”
Lucinda decided to take Leo home instead, where he is doing much better, she said. Although he takes in liquids through a tube, he is able to eat without one, which was a surprise to his specialists.
But taking care of Leo has still taken over Lucinda’s whole life, she said.
“It’s extremely difficult doing day-to-day things – we have to plan everything around Leo’s sleeping because he stops breathing when he goes into a deep sleep.
“I have to take equipment with me when we go out. He’s always hooked up to machines to check his heart rate.”
Lucinda’s respite comes at night, when dedicated carers come to watch over Leo and give her a chance to sleep.
She said she “couldn’t fault” the staff at St Thomas’, despite the fact that they cannot cure Leo’s condition.
“The whole time after he was admitted, the day-to-day care they gave – you can see they just loved him.
“They were also a great help with the biotech company, our neurologist here really got the ball rolling. There was a whole other side of things that I wouldn’t have been able to get done without them.
“The condition is just so rare. Even people that specialise in ultra-rare disorders don’t know about it. It’s not anything against them at all – just as his mum I couldn’t accept that.”
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Read more about Leo here.