A mother is begging doctors to do more research into treatment for her son’s genetic condition which is so rare it does not have a name.
Lucinda Andrews, 32, from Chatham, Kent, had baby Leo on March 5 at Medway Maritime Hospital, after a normal pregnancy.
Soon after his birth, doctors realised he was not moving his arms and legs. He was floppy and was not moving his head from side to side.
Further exams found that Leo suffers from a genetic condition which affects his protein coding TBCD gene and is so rare, it doesn’t have a name yet.
Lucinda said she wants doctors to do more research in order to treat Leo, who can’t cry, has epileptic seizures, and breathing issues due to the mystery illness.
Lucinda Andrews, 32, from Chatham, Kent, shared her anguish as her six-year-old son Leo pictured, was born with a genetic condition so rare, it doesn’t have a name, a set treatment plan or a known cure
Leo was shortly moved to a neonatal intensive care unit (NICU) after his birth.
Doctors then moved him to St Thomas’s Hospital on March 11 for specialist care. There, they realised that Leo may be suffering from a genetic condition, which led to more tests.
Doctors found Leo has a genetic condition which affects his TBCD gene, one of the protein coding genes.
Lucinda said: ‘They [the doctors] told me what kind of condition it is but the condition is so rare it does not actually have a name yet.
Leo, pictured, was born after an uneventful pregnancy, but soon, doctors realised her had no lower limb mobility and sent him to the Neonatal Intensive Care Unit
‘They told me a lot of things that could potentially happen and it was just awful.
‘At certain points throughout our stay in hospital it was really touch and go and the doctors thought he might not make it.
‘So many people came round and said “he keeps surprising us”.’
His condition means that Leo has breathing problems and cannot cry. The six-month-old’s brain is also affected by the condition, and he’s started having epileptic seizures.
For now, the infant’s main treatment is physiotherapy, which he performs at home with Lucinda on a velcro mat she bought for him to encourage motion.
Leo also visits the pool on Monday for daily hydrotherapy exercises with his mother.
Leo, pictured when he was five months, is a happy baby who loves Toy Story and going out on walks in his pram
The TBCD gene and its role in creating our cells
The TBCD gene is actually named Tubulin Folding Cofactor D), a protein coding gene.
Diseases linked to the TBCD gene have to do with the development and functioning of the brain.
Tubulin is a protein which plays a pivotal role in the formation of cells.
Little is known on Tubulin because it was only discovered after 30 years of research in 1998 in California by scientists with the U.S. Department of Energy’s Lawrence Berkeley National Laboratory
Source: Berkeley Lab and Gene card.
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Lucinda said she wasn’t told what Leo prognosis could be, and that no ones knows how life-threatening the condition is, because it is so rare.
With her son being treated in hospital, the mother-of-one has been focusing her time on research, emailing specialists from around the world every week.
Little is known of Leo’s condition on Google, and Lucinda said she is learning as she goes along.
Her hope is for more research to be done into the condition so others like Leo can be helped and treated.
‘It gets to the point where I just do not know what to do anymore to help him. I cannot fault any of the people at St Thomas’s,’ she said.
‘They have all been great. The follow up care we have received – they could not do any more. It is just because of the condition there is nothing medically that exists that they know of,’ she added.
After sharing her story on social media, Lucinda found six other families who have children with the same genetic condition.
It has helped her feel supported and carry on looking for specialists to treat Leo. She believes that scientists can develop a treatment for her son and others like him.
Lucinda, who had been contacting specialists from all over the world, revealed Leo suffered breathing issues and seizures due to his rare condition
Lucinda said she isn’t sure what Leo’s life expectancy was, and that she takes life day by day in hopes someone will find a cure
‘There are already gene therapies that exist for example the SMA infusion that is available on the NHS since March this year.
‘I have been in contact with molecular biologists as well because molecule drugs exist and could potentially be repurposed to create a treatment,’ she added.
‘I think the science exists it’s just finding someone to develop it to treat the TBCD gene specifically.’
Despite everything, Lucinda says Leo is a very happy baby who loves Toy Story: ‘He loves Toy Story. It is the only thing he will watch.
‘Whenever Toy Story is on he is glued to my iPad. In general he is a really happy content baby. He loves going for a walk in the pram.
‘He loves staring at the trees and being outdoors. He is very easily entertained.’
Lucinda wants someone to advocate for Leo or have specialists look into the condition.
She is also organising ‘Walking Around the World for Leo’ to raise awareness of his condition and help other families affected by the TBCD gene mutation.
Take part in the walk here.
You can follow Leo’s journey here.
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