A one-year-old boy from Glamorgan, Wales, has been diagnosed with a condition so rare that it has no name and he is the only known case in the UK. Jack Thomas, whose full name has been shared by his family, is one of just 16 known cases worldwide. His mother, Amanda Thomas, 35, is desperate to find other families affected by the same genetic mutation, as doctors have warned Jack may have only a year to live.
Amanda first noticed something was wrong when Jack could not make eye contact. His right eye then turned outwards and fixed, before he suffered a life-threatening seizure. Medics eventually discovered a mutation of the PPFIBP1 gene, which Jack inherited from both parents, who each carry a faulty copy. The condition causes a neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities. Jack is completely blind and likely will never sit, walk, or talk.
Amanda, a former social care officer, said: 'No parent wants to be told that they will outlive their child. Having to plan for that eventuality is heartbreaking. I sometimes think there’s no way I can cope; but I have to, for Jack.' She and her husband Nicholas, 44, have three other children who have no trace of the faulty gene. The couple have had to give up work to care for Jack full-time, as he requires constant supervision and specialist medication.
The family is now raising £20,000 to buy larger equipment for Jack’s physiotherapy and occupational therapy, as he grows. Over £1,210 has been donated so far. Amanda added: '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.'
