My baby was born with disease so rare it doesn’t have a name – I’m desperate to find cure before he dies
A MUM has told how her baby was born with a disease so rare it doesn’t have a name – but she’s determined to find a cure.
Docs told Lucinda Andrews, 32, that they couldn’t do anything for her 11-month-old son Leo after the tot was born with a disorder affecting his TBCD gene.
Leo’s brain doesn’t send signals to his muscles, leaving him battling with seizures and struggling to move.
Eventually, Leo’s muscles will get so weak he can’t breathe – meaning the mum, Chatham, Kent, needs to hunt down a treatment “as quickly as possible”.
After countless pleas for help and endless online searches, Lucinda found a US Biotech company which facilitates new drugs for highly rare conditions.
She told the Mirror that the firm is Leo’s “only shot”.
Lucinda said: “He’s 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.
“When he smiles that’s what I need, that’s the motivation right there and the pick me up to keep going.
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“He is fighting and it motivates me to keep pushing.”
The tot needs a breathing machine at night – but proud mum Lucinda said he is now off his feeding tube and can eat three meals a day as normal.
The mum has launched a Just Giving page to raise money for research into Leo’s condition.
The site reads: “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 dependant on a breathing machine overnight and Leo could learn to walk and talk.”
Lucinda has launched a website to track Leo’s progress.