Copyright birminghammail
A tot has been diagnosed with a condition so rare it remains unnamed, making him the only known case across the UK. Amanda Thomas, 35, is desperately searching for other children like Jack, aged one, as doctors believe he may have just a year left to live. However, there are merely 16 recorded cases globally. Amanda has revealed the initial warning signs that her baby was unwell. Read more Midlands mum who had scalp ripped off in horror work accident wins seven-figure payout She realised something was seriously amiss when little Jack couldn't make eye contact, reports the Mirror . Her baby's right eye subsequently turned outward and became fixed, before he suffered a life-threatening seizure. Medical professionals were unable to identify the cause until discovering it was a mutation of the PPFIBP1 gene – making Jack the sole known case in the UK, amongst 16 worldwide. At present, his condition remains without a name, and with virtually no information available, there's neither treatment nor cure. Doctors expect Jack may only have a year remaining to live. "No parent wants to be told that they will outlive their child," said Amanda, a former social care officer, from Glamorgan. "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 and her husband, Nicholas, 44, were informed at their 12-week scan that there was excess fluid at the back of Jack's neck, giving a 25% chance of survival. The couple chose to undergo additional tests, including blood work and amniocentesis, which returned clear results. Nine weeks after his birth, the baby became lethargic and stopped feeding. Amanda initially thought he was coming down with a bug, but her instincts told her something was amiss. When the baby's right eye turned outwards, she and Nicholas rushed him to A&E, only to be sent home by doctors who reassured them that newborns often do "weird" things with their eyes. However, later that evening, the baby suffered a seizure. Amanda recalled: "I screamed for help and two nurses came in, with one calling for the crash team. "He had been taken back into hospital for investigations, as his eye went funny again before putting him to bed. "Suddenly, there were loud alarms going off and dozens of people rushing to his side. "I could see them resuscitating him; I truly thought he was slipping away from me." Following this, a series of CT and MRI scans revealed calcification on the baby's brain. The couple agreed to genetic testing, which found that both Amanda and Nick carried faulty copies of the PPFIBP1 gene. Their son had inherited both mutated copies, resulting in a neurodevelopmental disorder characterised by seizures, microcephaly – a small brain –and abnormalities. Their three other children, whose names have been withheld for privacy reasons, did not carry the faulty gene. Jack now endures frequent seizures that resist medication, and doctors believe he will never manage to sit, walk or speak. He has also lost his sight completely. Amanda revealed: "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." Jack is currently undergoing physiotherapy and occupational therapy to help build up his core strength. However, as he develops, larger equipment becomes necessary and the family are hoping to raise £20,000 to support this, with more than £1,210 donated so far. The situation has taken an enormous toll on the couple, including their other children. She explained: "We have to keep going each day to ensure that Jack is safe, and knows how loved he is, but our other children also need us. "It's hard to stretch ourselves to make sure they are all having their emotional needs met. "His brothers and sister absolutely adore him; they know that he is different, and they do worry when he has his seizures. "They help us when Jack is unwell, and they can even recognise a subtle seizure when it's happening. "I am so proud of them – but this is something they should not have to be dealing with. "One of us needs to be with Jack at all times, as no one else can administer his medication and pump feeds, plus the risk of him having a seizure is too great for us to leave him with just anyone. "So I've had to give up my job, putting a strain on our income. "And our relationship is a challenge, as we're only able to have the odd hour separately, never together." Amanda is working to raise awareness of Jack's unnamed condition, whilst also seeking out others facing similar circumstances. She has been documenting his case across social media platforms and has managed to connect with one woman from Georgia, US, whose daughter battled the same condition before passing away at just two years old. For the time being, however, they're treasuring every precious moment they have with him. The mum continued: "We just enjoy him. We celebrate those little milestones that may not mean much to others. 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."
