The relief of diagnosis

My recent diagnosis, at the age of 44 by two doctors in Singapore brought with it an enormous sense of relief and an explanation which I have sought for so long. To finally know that my weakness is not just laziness, a pathological aversion to exercise or simply a negligent attitude to fitness is solace. Diagnosis also brings with it, since the disease is hereditary a fear that my three children may suffer similarly, although at least if they do we will now understand why.

They disease is supposed to be auto-recessive meaning that both parents need to be carriers for a child to be affected. It is clear that my eldest two children are not impacted- my son has the energy at any sport that I have always longed for - my youngest complains of aching legs, which makes me wary and is a symptom we will have to watch out for.

My final diagnosis came courtesy of the alertness of Dr Ng a Singapore cardiologist and his attention to both patient notes and a chance remark. I had first visited his clinic in March 2005 when early morning chest pains caused me sufficient concern to seek medical attention. Thankfully the blood test and ECG showed no heart problems( although the blood test provided Dr Ng his first clue). A treadmill test confirmed this but revealed me to be“surprisingly unfit” (not to me) as the increase in speed led me to have to give up half way through the test.

A routine cholesterol test revealed a sufficiently high count for Dr Ng to recommend statins, which he warned me may cause muscle aching. I jokingly said that was something I was used to and after further questions Dr Ng decided to check my CK (Creatine Kinese) level. I left his practice and returned to the office and was surprised to receive a call a little later requesting I return to the hospital immediately and check in for observation. My CK level, which indicates muscle breakdown was over 3,000 - 3 days on a drip and a muscle biopsy was scheduled, which gave the conclusive diagnosis.