Are You in Any Pain?

“Are you in any pain?”

We’ve all seen these faces when we take our Rare Disease children into their specialists. Each time we’d go, Lilly would be asked “Are you in any pain?”

She’d look at me, with no answer, and I’d know exactly why.

No, she wasn’t in pain now. It was daytime, the painful night has now passed. We could almost pretend it hadn’t even happened.

Six to eight times a night, her body would thrash, painfully, like someone was waving fire beneath her. She’d cry out for us, yelling for help, as her body convulsed and she endured the muscle spasms and cramping. Finally her body would relent and covered in sweat, she'd pass out again.

“No.” I’d watch her reply that no, she wasn’t in pain, not now, but she and I would both know that tonight would be the same as last night and the night tremors would return.

I would tell the specialist that although Lilly isn’t in pain now, in your office, her night was full of pain. Lilly would say “it was an eleven” noting that’s it’s off the chart pain. Literally.

In order to collect accurate phenotype data, should the question be “Have you experienced any pain in the last month, week, day?”

(Fortunately, through WGS, we found Lilly's ADCY5-related Dyskinesia diagnosis. Starting at the age of 15, she slept through the night for the first time. Since being diagnosed and treated, she now sleeps, peacefully through the night).