Baby boy born with disorder so rare it doesn’t have a name with mum in race to save him

A mum has said she is in a race against time to save her son who was born with an ultra rare genetic disorder so rare it doesn’t yet have a name.

Lucinda Andrews, 32, had her son Leo in March this year after a ‘perfect’ pregnancy, MyLondon reports.

But when doctors noticed Leo had no muscle strength at all in his limbs, Lucinda knew something was wrong.

Leo is 1 of 16 in the world to be diagnosed with a TBCD gene mutation that affects his brain, central nervous system and muscles.

Leo spent nearly four months in the ICU at St. Thomas’ hospital in Lambeth, before being discharged as doctors didn’t know anything more they could do to save him.

Lucinda, who now lives in Chatham in Kent, said: “It was completely unforeseen. When he was born, I was in complete shock. The severity of it didn’t really sink in.

“I don’t think it really did until I saw him in the incubator with all the tubes and wires. I just burst out crying.

“Nothing that could be done because of the rarity of the condition. Even specialists out there that haven’t even heard of this disorder.

“Then he was discharged. I was told to enjoy the time that I have with him.”

Leo requires round the clock care as he suffers with has epileptic seizures and low muscle tone, which means he has difficulty moving and breathing.

Overnight he requires ventilation, which kicks in when he stops breathing when is in a a deep sleep.

Lucinda previously worked in hospitality while working abroad in Canada, but came back to the UK have Leo and now is a full-time Mum to him.

Despite doctors presenting the option to turn Leo’s life support machine off in the beginning, Lucinda chose to fight for Leo.

While she praised doctors who did their best for him, Lucinda says she “just couldn’t accept” that there was nothing that could be done for her son.

“I have sent thousands upon thousands of posts and emails all over the world to try and find someone who knew more and could help.” she said.

“It’s a deteriorating condition – he will get progressively worse. It could get to the point where he’s too weak to breathe. But I want to get help before his health declines. He is definitely defying the odds right now – I hope he continues to.

“I’ve helped him with physio somewhat – I can get him as strong as physically possible, but without medical help, there’s only so much I can do.”

Due to the rarity of Leo’s conditions, there are very few medical experts on the condition. This also means she is left in limbo, with no one being able to say for sure how long Leo has left.

But, despite having no medical background, Lucinda says her fight for Leo engulfed her in research in a bid to do anything that will help him.

She said: “I had no medical background before this, but you do become an expert in your child. I have sat down for hours and looked at medical results. I would google each word I didn’t understand and try and put it together in a simplified form to understand what it actually means.

“I would research how a specific diet might help him, or supplements to make him stronger.

“But I get days when I just feel like I’m losing the fight for him. I’ll pick him up from his cot and hug him and cry. But I use that for my motivation to keep going. I put all that negative stuff to the back of my mind. “

Lucinda has found some hope in a US biotech company who can research ‘drug re-purposing’ for Leo – whereby drugs to treat other conditions might have unintended benefits.

They can also undertake revolutionary treatment to change Leo’s failing gene to produce the protein that he is lacking.

But the treatment costs £220,000 – so she relying on fundraising.

“He is my motivation to keep going,” Lucinda added.

Lucinda has also managed to connect with some of the other parents whose children have the same condition – of which there are only 16 in the world.

She said: “They are mostly in the States but there’s one in Peru, a couple in Turkey. One mum in particular I became very good friends with and we bounce ideas off each other. She’s been a real rock.

“You hit so many brick walls when you’re trying to find a specialist or raise funds to help. She’s been a real pick me up to me.”

You can donate to Leo’s fundraiser and read more about his story here.