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Lucinda Andrews makes her emotional plea for little Leo on Rare Disease Day today. Just a week away from his first birthday, Leo is among fewer than 20 people in the world with a gene mutation condition affecting his brain, nervous system and muscles.
Brave Leo, whose full name is Emilio Luca, has made great progress thanks to hydrotherapy and physiotherapy treatment.
But he still has seizures and finds it difficult to move and breathe.
The muscles around his lungs will get weaker over time as the signals telling them to breathe eventually stop.
Last summer, Lucinda, 32, contacted more than 800 experts around the world to try to find a treatment for the TBCD gene disorder.
California biotech firm Rarebase is now carrying out a painstaking search for a drug Leo could trial by the end of the year – but it carries a price tag of £220,000.
Experts are searching databases of existing drugs already approved by the US Food and DrugAdministration (FDA) to identify any that could be used to treat Leo.
Lucinda, of Chatham, Kent, has sent blood and biopsy samples which the firm will use to create a disease model and lab-test possible drugs.
If one is identified, Lucinda hopes Leo’s UK doctors will be allowed to prescribe it for him to trial.
Lucinda said: “Every day I have the fear of something happening to Leo.
“If he’s not supporting his head as much one day because he’s tired, I start thinking the worst – is this the beginning of him starting to deteriorate? I can’t put into words what it is like to constantly have that in the back of your mind.
“I would never put Leo in danger, but if it is already an FDA-approved drug, I’m hoping that with the right dosage, it would be safe to try to administer to improve his life.”
Lucinda has already raised more than £25,000 by climbing Mount Snowdon and holding events like pub quizzes.
She has been helped by friends, family and often people she has never met before.
She added: “I’ve been very fortunate in that people who were complete strangers are now a part of mine and Leo’s daily life.”
After months of desperately searching for a medical intervention, Lucinda says the Rarebase research has given her and Leo a lifeline.
She said: “To have a hope of a future with my son, it’s incredible.”
- To make a donation, visit justgiving.com/crowdfunding/mysonleo
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