AKU patient, Judah, tells the story of his journey to diagnosis.
My name is Judah, and I live in India. The lovelorn damsel in the Song of Solomon was surely exaggerating when she gushed “My lover is dark and dazzling, better than ten thousand others!” Ah, were my wife ever inspired to make a similar claim of me being one in a million, she wouldn’t be wrong – I have Black Bone Disease.
Knowledge about this medical rarity wasn’t widespread some sixty years ago. Even at the renowned Christian Medical College & Hospital in Vellore (India) where I was taken as a year old baby in the year 1953, the doctors were initially puzzled by the strange phenomenon of the nappies turning blackish brown when wet. However they quickly determined this to be a case of a rare metabolic disorder.
Since it wasn’t clear at that time as to what other abnormal effects would be manifested by the condition, I grew up like every other kid in the neighbourhood, blissfully unaware my urine colouring was unusual. I took part in a fair bit of sporting activity and was a passionately active oarsman while in college.
It was only when I reached the age of 35 that I began to experience some difficulty in bending down to tie my shoe laces. The pain was significant enough for me to consult a physician who put it down to Lumbago. About this time, my left shoulder joint also started acting up, making it impossible for me to reach overhead straps while standing in buses and trains.
It was only in the early nineties when I was nearing 40, that an orthopedic specialist in Madras (now Chennai) gave the problem a name, following a routine urine analysis. He called it Ochronosis.
By this time I was unfit for the 100 m dash in any category. There was persistent pain in my ankle causing me to drag my left foot as I walked. This meant I couldn’t walk fast or bend down easily to lift things. Knowing there was no real cure to this condition, I endeavoured to exercise regularly, thereby keep the joints supple.
About this time I learnt that consanguineous marriages could be one of the causes, and indeed my parents were first cousins. Such marriages between close cousins was not uncommon in our traditional south Indian community.
Newer manifestations of my condition surfaced as years went by. Whenever I bent my right knee, there seemed to be some unusual activity happening – like some loose bodies running up and down around the joint. I began to anticipate and experience this every time I put on trousers, and one fateful morning, the right knee just locked. The pain was excruciating and it took an emergency Arthroscopy to take out the offending little balls made up of bits and pieces of cartilage. I have also had operations to remove kidney stones, and had both my hips replaced.
Now both my hips are fine, I can stand straight with the legs together but since the knees are week, I use a stick to walk around. Thankfully, driving is not a problem.
Thanks to Google, a couple of years ago I became aware of the AKU Society. I was quick to volunteer for SONIA 2, but it turned out the funding wouldn’t extend beyond Europe. But I had the opportunity to attend a seminar on AKU at CMC, Vellore and listen to encouraging presentations on the effectiveness of nitisinone by Prof. .Ranganath and also participate in the awareness campaign launched by Nick Sireau.