Acromegaly: My DIY diagnosis

When Jon Danzig fell ill, doctors were baffled. Why had his nose, forehead and feet started getting bigger, and his voice deeper? Eventually, he found the answer for himself

Something strange started happening to me about 10 years ago. My shoe size grew from 9 to 11+, my income dried up and the girlfriend I was going to marry left after we stopped having sex.

It wasn't just the sex, or lack of it. I also changed dramatically, both personally and physically. My nose grew bigger, my forehead enlarged and my face and hands became puffy and coarse. But these were gradual changes, as I realised in retrospect.

Some friends noticed more acutely. One, who hadn't seen me for four years, looked shocked: "You've re-arranged your face," he blurted. My younger sister was blunter: she said I looked like I'd been in a fight.

I went from being dynamic and creative to apathetic and exhausted. My moods became widely variable. I was more anxious. My voice grew deeper. At night, I had weird out-of-body experiences, and I'd wake up sweating, scared and gasping.

I'd been a successful freelance journalist and film-maker, but things began to go wrong. Increasingly I went to the office late, or not at all. Often I did little or nothing at work. Then I'd go home and do nothing there. I'd fall asleep at inappropriate times, at my desk or while having a cup of tea.

Sometimes I tried to snap out of it by starting a grand new project, but it didn't work. I soon ran out of steam and mourned the loss of my former vibrant self.

From 1997 to summer 2001, I saw all manner of medical experts. My GP had almost 100 pages of notes about me. The doctors found nothing fundamentally wrong. I came to think it was me. I must have just "lost it".

My GP sent me to the practice counsellor. I told him I was worried that I'd stopped being creative. He said I had got to an age when I couldn't expect to be creative any more. I was only 42.

An opportunity to discover what was wrong came and passed. A small lump grew in my right breast – gynaecomastia is the medical term. "Stop taking vitamin pills," said one consultant. "Have surgery," said another. Neither, though, arranged hormone tests to determine the cause. A fortnight before surgery, the lump disappeared. Later, it reappeared in my left breast. Ignore it, advised a GP.

My dermatologist missed the diagnosis by not discovering the true cause of painful and chronic mountainous acne on my back. My orthopaedic doctor lost an opportunity by not finding the reason for joint pains. My dentist didn't recognise the gaps appearing in my lower front teeth and the development of a lower jaw overbite.

GPs failed by not understanding the combination of all my complaints, including depression, apathy and snoring. When my testosterone was discovered to be substantially below normal, one GP told me to come back in 12 months' time.

So I struggled for years, undiagnosed. Even when at last I was referred to an endocrinologist, he was unable to make a timely diagnosis. It was only by becoming a more informed patient that I eventually added up the sum of all my symptoms and discovered for myself what was wrong with me.

I had acromegaly, a complicated, potentially life-shortening illness. It's caused by a non-cancerous tumour of the pituitary gland, lodged at the front base of the brain behind the eyes. The tumour causes a massive overdose of human growth hormone and it can also displace other vital hormones. My suspicion that I had such an awful illness sent me into deep shock.

My endocrinologist, however, failed to confirm a diagnosis of acromegaly in the six months I was his patient. Only belatedly was I sent for a special test to check growth hormone levels, but by the time the results were ready, my endocrinologist was on holiday. I asked my GP's receptionist to get the results for me, but she seemed reluctant. I became exasperated and said: "This could be a life-threatening illness." Eventually a GP phoned me back but said: "Your growth hormone levels are completely normal. This is hardly a life-threatening illness."

I felt disappointed. Maybe my suspicion was completely wrong. "I thought my growth hormone levels might have been too high," I said. She read out the results to me. "That's high above normal!" I exclaimed. "Surely it means I have a condition known as acromegaly?"

"I'm afraid you're now talking beyond my depth," admitted the doctor. "I think it's best you wait for your endocrinologist to come back from holiday."

I didn't want to wait. Instead, I wrote to an acromegaly expert, Professor John Monson at St Bartholomew's Hospital, London. I enclosed my test results and told him I had acromegaly. The next day he phoned back to ask: "Who made the diagnosis of acromegaly?" I paused and said: "I did," somewhat hesitantly. "Well," said the professor, "you're absolutely right."

When we met a few days later, in August 2001, Professor Monson said he could tell that I had acromegaly just by looking at my face. The test results confirmed that my growth hormone levels were around 2,500 per cent above normal. There was no doubt that I had acromegaly.

The diagnosis at last provided an explanation for all my strange and debilitating symptoms, which was a huge relief. I also felt let down. Surely any one of my doctors should have been able to recognise what was wrong much earlier? Apparently, the typical delay in diagnosis for acromegaly is 10 years or more. Isn't this a failure of medicine? The challenge for doctors, and patients, is to catch the illness early, years before the damage and deformities occur.

I wanted a cure, but I knew that, with a large tumour, my chances were low. I was determined to find the most experienced neurosurgeon. That led me to Professor Rudolf Fahlbusch at the University Hospital in Erlangen, Germany. He'd performed more than 4,000 pituitary tumour operations, more than anyone else in the world. I needed two operations, and afterwards Professor Fahlbusch wrote that the neurosurgery on me was "one of the most difficult and risky of my surgical life".

After the operations, my face started going back to normal and my testosterone levels increased. My sleep improved and the out-of-body experiences stopped. The cystic acne on my back disappeared. Most important, the growth hormone levels also went down considerably, but alas, not by enough. Blood tests showed I still had acromegaly.

I sought the help of the leading acromegaly expert Professor John Wass at the Churchill Hospital, Oxford. He fought for me to be treated on the NHS with a special injection I have every six weeks, costing almost £1,000 a shot. My growth hormone levels are now in the normal range.

I feel I've made considerable progress, although I'm still not back to my work. I have my good days, but I still get easily and unpredictably fatigued. After my second op, I developed deep headaches that visit me most days. Joint pains have required surgery to my knees. Clearly the years of untreated acromegaly did damage, not all of which can be undone. Nevertheless, I'm an optimist and I hope to resume my career and life plans.

My relationship with my GP, Dr Stephen Cohen, the senior partner at the Nap Surgery in Kings Langley, Hertfordshire, is greatly improved. It's now a true doctor-patient partnership and he's become my strongest ally through the medical maze. Recently, all the doctors at the practice met to try to learn from my case. That, I applaud.

Jon Danzig was an investigative journalist on Roger Cook's BBC consumer programme, an award-winning medical journalist, and the owner of a successful media business, Look-Hear.com, before he was incapacitated by acromegaly.

Why did I develop acromegaly?

Nobody has yet found a cause for acromegaly. It's not hereditary, nor is it infectious. Anyone can get it, men or women equally. Untreated, it can cause severe morbidity, disfigurement and premature death.

The annual incidence is supposed to be only three in a million, but research indicates this may be a gross underestimate. The condition may not be so rare, but simply rarely diagnosed.

Acromegaly is caused by a non-cancerous tumour of the pituitary, causing excess growth hormone. If developed in teenage years, it's called gigantism. Acromegaly is the same condition but forming in adulthood, when the bones have set and so the body can't grow taller.

The excess growth hormone can dangerously enlarge soft tissue, such as the heart and colon. It can distort bone structure and cause growth of the hands, feet and head. Once suspected, the diagnosis is simple, involving tests to check growth hormone levels.

Acromegaly doesn't impair intellect, so I could research my symptoms and challenge the doctors.

Groups: www.acromegaly.org; www.pituitary.org.uk; email: jondanzig@aol.com