"About two hours after he was born, Huw kept asking me if he was cold because he was shaking, or they call it jittering. He wasn't cold, so they took him to neonatal to check him over. I wasn't allowed to go with him - but he ended up being in there for three weeks,” Anna told the Mirror.
Despite Anna having a normal pregnancy and “beautiful” delivery, doctors were concerned about “Oshi’s” jitters and a purple rash on his body. Along with low platelets and calcifications on his brain everything pointed to “an infection in utero” – but they couldn’t find one.
“He was on antibiotics, the works, but every test came back negative, even when they did some of them twice," explained his mum.
The youngster was “breastfeeding fine” and with no oxygen requirements Anna and Huw were getting frustrated that they weren’t allowed take him home, thinking there was nothing wrong with him.
While the newborn also had abnormal movement and nystagmus, uncontrolled movement of the eye, his 27-year-old parents “were drawing the positives”.
"When they couldn't find anything, they went to genetics and they found nothing distinctive, so we were reassured again. We wanted to take him home and let him be who he wanted to be - I didn't want to take a baby home with a label, I just wanted to take my baby home and get to know him."
Eventually, doctors diagnosed Aicardi-Goutieres Syndrome, a rare auto-immune disease which attacks the body - the brain and skin in particular.
There are only 400 cases worldwide and symptoms include seizures, anaemia, shallow breathing and hearing impairment among others.
The diagnosis is still clinical as doctors have yet to isolate the gene, so Anna is raising money to take her son to a conference by Dr. Yanik Crow, a worldwide authority on ACG this year or next.
She has set up a GoFundMe page where her £5,000 target has already been exceed by over £3,000.
“Sometimes I look at him and think ' you're going to be fine' and other times I look at him and think, 'oh my god, how long have we got'. We've accepted him and we're trying to embrace everything about him, because it's not fair to him to not," Anna finished off by saying.
