A woman from the UK has emotionally described her experience of caring for a son who was born with a genetic condition so rare that it doesn't even have a name.
Lucinda Andrews' 11-month-old son Leo is only the sixteenth child in the world to be diagnosed with this particular life-limiting condition.
Lucinda spoke to Moncrieff about Leo's condition and her efforts to find a treatment for her young son.
She explained: “When he was first born, the way he clinically presented himself… the official term is hypertonia, which essentially means floppiness. We noticed that straight away - but I was told by the doctors that sometimes babies can be in shock.
“When it got to him being about four hours old, he didn’t gain any strength - so they thought it might be something more.”
Leo was transferred to St Thomas’ Hospital in London for further testing. Specialists initially thought it could be a condition called spinal muscular atrophy, but when his genetic test results came back several weeks later it showed a mutation in his TBCD gene.
The TBCD gene typically creates a particular protein called myelin - but with this condition, there’s not enough protein being made.
As a result of this condition, Leo could only move his head - from his shoulder down there was “no strength in his arms, legs or chest… he was just really floppy”.
It has also led to difficulty with breathing, as his chest muscles are too weak to take strong enough breaths.
Lucinda has been doing a lot of physio and exercises with Leo, and that’s helped strengthen up his core and chest muscles.
She observed: “His breathing has improved a little bit, just because the muscles are assisting him a little bit more now.
"But he does require a breathing machine… when he goes into a deep sleep, he’s not breathing properly himself.
"He also suffers from epilepsy as a result of the effects the mutation has on his brain.”
Eating was also initially a major problem, with Leo needing to be fed through a nose tube.
However, they’ve been able to trial other foods more as Leo has grown older.
Lucinda explained: “At around 5-6 months old, I started trialing him on a bit of pureé food and working our way up.
"He now can eat breakfast, lunch and dinner - he’s doing fantastic with that, and that was something I never thought would happen for him.”
Research and treatment
Lucinda has contacted many experts in a bid to find out more, but so many of those haven’t come across this particular condition before due to its rarity.
There's been no luck in finding any type of treatment in the UK or EU, and the family's current best hope rests with a biotech company in California.
Lucinda explained: “They have technology there… that has been used for other genetic disorders. They’re going to develop the technology so it’s specific to the TBCD gene.
“What it essentially does is gets Leo’s partially functioning copy of the gene to compensate - so it’s going to work harder to compensate for the dysfunctional copy.
"That’s as far as we’ve really gotten the wheels in motion so far… they are currently investigating and researching. The end goal for us would be a gene therapy.”
They're hoping now to have phase one research results by mid-2022, followed by phase two results by the end of the year - although the pandemic has delayed the process somewhat.
As part of the research, they’ll be looking at whether any existing medications can be repurposed to help treat this particular condition.
For now, Lucinda is looking to raise awareness of Leo’s case through a website sharing his story. A research fundraising campaign is also underway.
She admitted there are days when the challenges of caring for Leo really hit her, especially amid warnings from specialists that her son's health will deteriorate further if the condition is left untreated.
She said: "Having that fear of losing him... it's daily. It is hard."
However, she said it’s Leo himself and the progress he’s made that give her the motivation to push forward and work towards finding a treatment for her son’s extremely rare condition.