A RARE DIAGNOSIS
Of course, it’s every young physician’s dream to nail the big diagnosis that has eluded peers. Patients like being a medical mystery too. Well, we all like to feel a bit special. So, if a doctor can solve baffling symptoms by coming up with a rare, remarkable, and relatively harmless condition, preferably named after a famous foreign physician, well, everybody’s happy.
The nearest I ever got to scoring a triumphant elusive diagnosis was as a GP trainee. The patient, a teenager with foot pain, had over a period of 6 months seen four different GPs and even one (not the most gifted, mind you) orthopaedic surgeon. In an act of desperation his mother turned to the trainee.
As I examined the boy’s foot, for some reason a page from an old edition of Bailey and Love’s Short Practice of Surgery I once bought second hand as a medical student came to mind. It carried a photo-plate of a foot X-ray and described the singular condition of avascular necrosis of the second metatarsal head: also known as Freiberg’s disease.
‘You know what,’ I said, ‘I think you may have Freiberg’s disease.’
‘What’s that?’ his mother asked.
I couldn’t quite recall; I just remembered the picture.
‘Oh, it’s a … very rare foot condition’, I bluffed. ‘Let’s just get the X-ray done and we’ll see.’
I packed them off with an X-ray request form labelled ‘? Freiberg’s disease’ (I may have written ‘Frieburg’), making a mental note to look it up. I lost the mental note.
WHAT NEXT, DOCTOR?
A fortnight later, they sat in front of me as I opened an X-ray report that read:
‘Right foot 2nd metatarsal head shows characteristic features of Freiberg’s disease?!’
Osteonecrosis of 2nd metatarsal head (Freiberg infraction). Case courtesy of Dr Maulik S Patel, Radiopaedia.org, rID: 9792.
The excitement in the room, from all three of us, was palpable.
‘At last! At last! Oh, thank you, Dr Scanlon. Thank you’, gushed the grateful mother.
‘No, it’s … my erm … job. I’m just glad we got to the bottom of it’, I replied, basking with false modesty in the warmth of their admiration and thinking, ‘Wait till my GP trainer hears this one.’
‘Why is it called Freiberg’s disease?’ asked the inquisitive young patient.
‘Oh, err. Famous German physician.’ I didn’t know. ‘He err, invented, err, discovered it.’
After a smiling pause of congratulation his mother continued, ‘So … What next?’
‘Oh, err,’ I thought, ‘yes, what next? I meant to look that up.’ Where was Google when you needed it? Only about 20 years away. With this realisation, my heart sank. My glorious victory was to be snatched from me, even before it could be more widely broadcast. I suddenly felt resentful. What sort of gratitude was it to ask ‘What next?’ Hadn’t I given them an obscure and, in all probability, harmless disease — and with a German name? What more did they want from me? I inhaled deeply through my nostrils, still trying to carry the air of the medical sage.
‘Needs a specialist opinion’, I nodded.
I sent them back to that dodgy orthopaedic consultant. Fat lot of good it did them too.
Fast forward 30 years on the last day of a locum stay, and as I cleared my desk a GP colleague entered, carrying an X-ray report.
‘I thought you’d like to see this before you go, Tom’, she said. ‘It’s that young lad you saw with the foot pain.’
‘Oh yes, I remember. What does it say?’
She wrinkled her eyebrows quizzically. ‘Freiberg’s disease?’
‘Freiberg’s disease! Of course!’ I exclaimed.
‘Avascular necrosis of the second or third metatarsal head.’
‘Gosh, you really know your stuff’, she said with genuine admiration as she walked back out. The wave of adulation that had so nearly bathed me three decades previously lapped the shore once more. ‘At last,’ I thought as I dipped my toes in its soothing waters, ‘the recognition I deserve’.
Then it suddenly occurred to me. The treatment, I still didn’t have a clue. I never did look it up, and my colleague might be back any second to ask. Stuffing my medical gear into my bag, I legged it for the car, leaving a skid mark as I screeched out the car park. I wasn’t about to have my triumph snatched from me a second time. Bloody Freiberg’s disease. Must look that up some time …
- © British Journal of General Practice 2019
