A mother says that her baby has a health condition so rare that it doesn’t even have a name.
Amanda Thomas, 35, from Glamorgan in Wales, is the mother to one-year-old Jack, who lives with a condition that has no cure.
Doctors told Amanda her son had a mutation of PPFIBP1, a gene that acts as an instruction map for nerve cells in the brain and nervous system.
He is one of 16 other known cases worldwide.
They also warned Jack may only have one year left to live and he could soon be unable to sit, talk or walk.
The mutation can also cause microcephaly, a condition where a baby is born with a head that is smaller than usual.
Jack is now blind and lives with frequent, drug-resistant seizures, which Amanda described as ‘heartbreaking’.
‘No parent wants to be told that they will outlive their child,’ she said.
‘Having to plan for that eventuality is heartbreaking. I sometimes think there’s no way I can cope, but I have to, for Jack.
‘As a family, we’re just enjoying each moment we have with him; taking it day-by-day.’
Amanda, a former social care worker, noticed her son couldn’t make eye contact.She found his right eye turned outwards and became fixed before he suffered a life-threatening seizure.
She and her husband, Nicholas, 44, took their son to A&E, but were sent home by doctors initially, after they said all newborns do ‘weird’ things with their eyes.
Amanda recalled blaring alarms and nurses rushing to tend to Jack.
She said: ‘I could see them resuscitating him; I truly thought he was slipping away from me.’
The couple agreed to genetic testing, which found they both had a faulty copy of the gene.
The couple was prompted to take the test after doctors found fluid in Jack’s neck during their 12-week scan.
The parents were told Jack would only have a 25% chance of survival.
Amanda added: ‘I felt shocked and numb. I had so many questions, but couldn’t speak.
‘All I wanted to hear was that he was going to be OK – but no one could tell us that.
‘The hardest part was being told that sufferers usually pass away during childhood.
‘It’s a grey area; he could have one, five, or 10 years left. No one knows.’
Although Jack currently undergoes physiotherapy and occupational therapy to help strengthen his core, Amanda has since set up a GoFundMe to raise money for his treatment.
The family have so far raised £1,280 of their £20,000 target, which could help towards a specialist wheelchair, a sensory room for Jack, a bigger car and money towards treats for Jack’s siblings.
She wrote on her fundraising page that Jack’s three other siblings, who do not have the faulty gene, are ‘incredibly strong but feeling the emotional strain’.
She also hopes to raise awareness about Jack’s unnamed condition and hopes to find others who have been impacted by the disease.
By posting on social media about Jack, she met a woman from Georgia in the US, whose daughter died from the disease, aged two.
Amanda hopes to enjoy every moment with her family.
‘We just enjoy him. We celebrate those little milestones that may not mean much to others,’ she said.
‘We do enjoy days out and have managed a little caravan holiday so far – which was challenging – but we made lovely memories.
‘The joy he brings us is amazing, and we are so proud of him.
‘I used to think the house not being tidy and the washing piling up was so important.
‘Now I’m realising the most important thing is that our son is still with us. And right now, that’s all I could ask for.’
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