Just hours after Osian Liddlell was born, his parents’ joy turned to fear, as their precious baby boy was transferred to the neo natal intensive care unit. A rash had spread across his face and body and doctors immediately started carrying out tests to find out why. The next few nerve wracking weeks saw Osian’s mum Anna and dad Huw becoming increasingly anxious as each test eliminated any suspected infections one by one, and doctors concluded that the cause must be genetic.
Anna explained: “We took Oshi home with a list of symptoms and waited for confirmation of his suspected condition. When the results of their investigations came back, the doctors put a journal in front of us, pointed at an article and said “we think it’s that”. No one had heard of it. Our world descended into chaos”.
Osian was diagnosed with Aicardi-Goutieres Syndrome 1, a genetic degenerative autoimmune disorder, causing brain damage, seizures, respiratory and heart problems. It’s so rare that only 400 people in the world have ever been known to have it, and around 40% don’t survive past the age of five.
Anna added: “There was no research base to inform any treatment, no answers, no comparisons, and that’s still the case now. We can stabilise Oshi’s symptoms with medication and make him as comfortable as possible, but every single medication has a side effect, so it’s a case of suck it and see. We just take Oshi for who he is, and if the meds work, they work.
“As well as medication, they give cuddles and love, which is just what Oshi needs”
The family now has 20 hours per week of respite care at their home in the Vale of Glamorgan, which has helped take some pressure off. But Osian still needs round the clock care for medication, syringe feeds, physiotherapy and management of his respiratory regime.