"Cooper was a happy baby and in the first six months of his life, his only fear was being smothered by kisses and hugs from his big brother, Harrison", says Cooper's mum, who recently shared this story with us.
"By about eight months of age, Cooper had just about mastered the art of sitting. But one day he lost his ability to sit. For no apparent reason, he became irritable and started suffering high temperatures. He developed a tremor in his foot and spasticity crept into one side of his legs and eventually into all four limbs. He regressed and lost skills, including head control.
At 11 months, Cooper's MRI showed slightly delayed myelination. Further testing showed raised neopterin levels in his CSF indicating a CNS low-level condition. We were then referred to a new neurologist at Westmead Children's Hospital.
Dr Russell Dale initially treated him with a high dose of steroids for a potentially acquired autoimmune infection. This gave him a lift in skills which he'd lost in the past eight months, but they regressed again when we weaned him from the medication. We also tried IVIG for three months with minor change.
Dr Dale then suggested Aicardi-Goutieres Syndrome as a possibility, although Cooper did not have calcifications on the brain (as is often associated with the condition) and his cognition was good. But he did have high levels of interferon and neopterin in his CSF. He decided to test gene #7 specifically by sending his samples to the UK for testing by one of the world-leading researchers into the disease, Dr Yannick Crow. He found a variation in his IF1H gene straight away. The diagnosis came 14 months after his symptoms began.
With no treatment for such a rare disease, Cooper was faced with limited options for managing his condition. Ruxolitinib is a JAK inhibitor which has been used against some forms of cancer and for adults with rheumatoid arthritis and Cooper was the first kid at Westmead Children’s Hospital to try it.
Amazingly, it quickly lowered the neopterin levels in his CSF – in fact, it nearly quartered them. It has not lowered his interferon levels, but as time has gone on we have seen great clinical improvement. Cooper has not had high temperatures; he is happy, and he is progressing with skills rather than regressing. Spasticity has decreased a little in some limbs, and his latest MRI shows myelination has improved with no atrophy.
Now nearly four years’ old, Cooper has the opportunity to put in a lot of hard work in physical and speech therapy and to relish in everything he conquers. He has gone from limited head control to rolling, commando crawling, independent sitting, navigating an iPad, using a Hart walker and smiling while he learns more every day".