Weʼre raising £220,000 to fund drug repurposing research to create a life saving treatment the TBCD disorder
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My son Leo
Hello, my name is Lucinda and I am Emilio's (Leo's) mum.
Leo was born in March 2021 with an ultra rare genetic disorder that affects his TBCD Gene. This presently incurable disease affects his brain, nervous system and muscles. As a result Leo suffers from epileptic seizures and has difficulty moving and breathing.
Due to the rarity of Leo's condition, specialists have voiced that there is nothing medically that can be done at this point and that Leo will lose the muscle strength to be able to breathe . Leo was the 16th child in the world to be diagnosed with this specific gene mutation that is so rare it doesn't yet have a name.
This diagnosis was completely unforeseen and something I never knew existed, until it did. As his mum I will never accept there is nothing that can be done to save him, I will do everything I can think of to fund a treatment to help all the children affected by this deteriorating disease.
For months I have sent thousands of emails and messages across the world in hopes I will find someone to help our children.....this morning (Sept 3rd), I woke up to an email from a US based Biotech corporation who facilitate breakthrough drug discoveries for rare diseases.
There are 2 approaches, 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 the TBCD disorder. The second is to increase TBCD gene expression. This means to get the 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 and all TBCD patients will no longer be dependant on a breathing machines and will learn to walk and talk.
Right now this is our only shot and I wouldn't ask if it was not important but unfortunately there are no private funding for ultra rare diseases that dont have pharmaceutical profit.
It truly does not come easy for me to ask for support but I cannot raise the funds otherwise. So I am reaching out to the public to ask for your help, to please please help me save my son Leo.
If there is anything you can spare, I would honestly be forever grateful. If you can't make a donation, just sharing Leo's story or www.aLifeForLeo.com website. Awareness is extremely important.
Thank you so so much,
Lucinda & Leo.
#aLifeForLeo #LiftingForLeo #WalkingAroundtheWorldforLeo #OurFightTogetherisStronger
More about Leo's story -
When Leo was born he couldn't move at all from the neck down, he had severe hypotonia (floppiness), which meant he had no muscle strength in his limbs or body and required non invasive ventilation 24/7. With the help of daily physio, exercises and massage classes taught by the specialist teams at St Thomas' hospital in London, Leo has shown some unexpected improvements. Leo is now able to somewhat support his head, move his arms and fingers. Even more incredibly Leo is now only requiring breathing support overnight.
Even though there have been some improvements in Leo's condition, he still requires 24 hour care and the fact remains that his health is expected to start deteriorating and no one can say how much time he has. I cannot accept this. As a mum I am instinctively trying everything possible to get the help Leo needs to save his life. Leo is everything to me, he is all I have and I will not lose him.
Thank you for taking the time to read Leo's Story.
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Jun 24, 2022
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Jun 20, 2022
Such a lovely boy, could not scroll past without giving. My heart aches for you ..best wishes
Jun 20, 2022
Having lost a grandchild with Spinal Muscular Atrophy, for which there is also no cure I feel your pain. Fight on Lucinda.x
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