Mum’s agony as baby with incurable condition so rare it has no name in race against time

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Lucinda Andrews, 32, says her 11-month-old son Leo was born with a rare genetic disorder – she has found a company which helps with breakthrough drug discoveries for rare diseases and says this could be Leo’s ‘only shot’

Lucinda Andrews and baby Leo, 11 months old

A single mum whose baby is the 16th in the world to be diagnosed with a rare condition is in a desperate race against time to fund research that could treat him.

Lucinda Andrews, 32, says her 11-month-old son Leo was born with a genetic disorder that affects his TBCD gene and means his brain doesn’t send signals to his muscles.

This presently incurable disease affects his brain, nervous system and muscles, leaving Leo suffering from epileptic seizures and with difficulty moving and breathing.

As Leo’s condition is so rare, Lucinda says specialists have said there is nothing that can be done at this point and warned her that her precious Leo could eventually lose the muscle strength to breathe.

“That’s why we need to act as quickly as possible,” she told The Mirror.

Leo was born with a genetic disorder

Leo was the 16th person in the world to be diagnosed

“There are days when it hits home and it’s hard. Because at the end of the day, if he is not treated, he is terminally ill.

“Just knowing that, there’s no way to explain – it’s heart wrenching.”

Lucinda, from Chatham in Kent, says only a few months ago she didn’t have anywhere to turn to and began sending out thousands of emails reaching out to experts.

Eventually she came across a US based Biotech company which facilitates breakthrough drug discoveries for rare diseases – and says their research could be Leo’s ‘only shot.’

Lucinda wants to share her story to raise awareness of Leo’s condition and fund the research to help him and other children in his position.

She says “he is the 16th child to be diagnosed with [the condition] worldwide so it hasn’t yet been given a name – and he is the only one in the UK to be diagnosed as far as I’m aware, but I believe there are more children out there.”

Lucinda has to juggle doing Leo’s physiotherapy and caring for him with doing the research and fundraising.

Lucinda wants to share her story to raise awareness of Leo’s condition

Leo’s mum says his condition doesn’t have a name yet because it’s so rare

“I get mum guilt that if I’m doing stuff with him I’m not doing stuff for him,” she said.

She added: “When he smiles that’s what I need, that’s the motivation right there and the pick me up to keep going.

“He is fighting and it motivates me to keep pushing.”

Although Leo has developmental delays, he has also surprised her by hitting certain milestones she thought he wouldn’t.

“When he was first born he couldn’t feed and had to be tube fed. I thought he would never be able to eat but he is now eating three meals as normal and only has his fluids down his tube.”

And the proud mum says Leo is a ‘happy and chilled baby’.

“I just watch him sleep and want him to wake up so I can hold him,” she told.

Lucinda says they got Leo’s diagnosis when he was just six weeks old.

Leo can now feed without a tube

Leo’s mum is trying to raise awareness of his story

Describing how the condition affects him she said: “He has low muscle tone and epilepsy, weak chest muscles which causes breathing difficulties.

“When we were discharged from hospital it was with the message of enjoying the time with him – because of the rarity [of his condition] there was nothing that could be done.

“But I was not going to accept that. I sent thousands of emails all over the world.

“Any article that was written about the gene I would write to the author and find more information.”

She continued: “So many doors have closed in my face, it gets to the point it’s so disheartening.

“But it gives me the drive to push harder the next time.”

The research could help Leo’s quality of life

Eventually through research, she came across the US based Biotech company and Lucinda says their research is in two phases.

On a Just Giving page to raise money for the research, she explains: “The first is drug discovery. This means researching every FDA approved drug that currently exists to test if one or more can be repurposed to treat Leo.

“The second is to increase TBCD gene expression. This means to get Leo’s functional gene copy to compensate for the dysfunctional one. They will create cell models direct from Leo’s blood samples in order to test these therapeutic approaches.

“This is life changing research and could mean Leo will no longer be dependent on a breathing machine overnight and Leo could learn to walk and talk.”

Lucinda has teamed up with mums of other kids with Leo’s condition and says they have already raised funds needed for phase one.

But Lucinda needs to raise the money for the second phase of the research by July.

To donate to Leo’s fundraising page click here and if you want to help with fundraising events you can contact Lucinda via Leo’s website here.

You can also visit Leo’s Instagram page here.

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George Holan

George Holan is chief editor at Plainsmen Post and has articles published in many notable publications in the last decade.

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