This is the story of our inspiring boy, Cooper. Despite battling a rare neurological disease resulting in profound motor and speech delays, he continues to rise to the many challenges thrown at him - all with a gorgeous and infectious smile. He is a true crusader - nothing is going to keep him down!
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. It was love at first sight for Harrison, who just wanted to hold and touch and wake his brother all day long. Just 19 months between them, they became best friends straight away.
the start of something not quite right
Just before 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.
At 11 months, Cooper's MRI showed slightly delayed myelination. Further testing showed raised neopterin levels in Cerebral Spinal Fluid (CSF) indicating a Central Nervous Systtem (CNS) low-level condition. We were then referred to a new neurologist at Westmead Children's Hospital in Sydney, Australia.
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. AGS is a degenerative disease so it wasn't good news. To say we were devastated was an understatement.
With no treatment for such a rare disease, Cooper was faced with limited options for managing his condition.
A stab in the dark
We decided to try a trial medication, knowing it had not been tested widely and therefore side effects and impacts were unknown. Ruxolitinib is a JAK inhibitor which has been used against some forms of cancer and for adults with rheumatoid arthritis.
But we were the first kid at Westmead Children’s Hospital to try it. When the pharmacist Sophie first gave it to us, it came with a long list of instructions: dissolve the tablet in a syringe wearing gloves, don’t touch the tablet, dispose of the syringe in a sharps bin, if it spills wipe it and throw the paper in the sharps bin too.
unknown side effects
Why? Because not enough is known about its long-term effects. I burst into tears at the thought of putting this unknown substance into my two-year-old baby.
But we had no option – other than to watch him continue to deteriorate. I’m not a risk taker, but this is without a doubt the biggest stab in the dark I’ve ever agreed to.
Amazingly, it quickly lowered the neopterin levels in his CSF – in fact it nearly quartered them. It has not lowered interferon levels, but as time has gone on (it is now 12 months since he started it), we have seen great clinical improvement.
Since then, Cooper has not had high temperatures; he is happy; and he is progressing with skills. Spasticity has decreased a little in some limbs, and his latest MRI shows myelination has improved a little, with no atrophy.
one day at a time
For how long we don’t know. But it’s ok because we’ve learnt to live one day at a time and fully embrace and love that day, not worrying about what is going to happen tomorrow. If today Cooper was happy and smiling (and this is the one constant you can be assured of with this beautiful soul), then we’re all happy. Tomorrow’s problems can wait till then.
Now 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 is a champion crusader against an unrelenting challenger, but he tackles the challenge head on every day – with a gorgeous smile to boot.