Before Alport Syndrome was diagnosed (only last year by kidney biopsy when I was 30), I had for many years experienced a bizarre number of apparently unrelated health problems, which I had put down to bad luck. I had hearing loss since childhood, which became noticeable to others when I was about nine. (Hearing loss associated with Alport Syndrome usually develops in affected males by the age of fifteen). Tests showed my hearing loss to be unusual in that it was initially not across the whole frequency range but dipped substantially in the middle. Since then, it has deteriorated to affect the entire range. During adolescence, very painful sores began to develop overnight at the front of my eyes, resembling severe conjunctivitis. Every doctor had a different explanation for this ranging from severe allergy to house dust to scratching the cornea while I was asleep. It turned out that this was something called 'recurrent corneal dystrophy' in which the membranes at the front of the eye would regularly breakdown but would heal quite quickly leaving some slight scar tissue each time. At the same time I also started to become more and more short-sighted and this progressive myopia is associated with a distortion in the shape of the lens, known as a 'lenticonus'. (Ocular lesions as well as hearing loss occur in about 15 to 30% of patients with Alport Syndrome). Routine medical examinations at my work suggested that something was amiss with my kidneys in that there was a continuous abnormally high content of protein in my urine ('proteinuria') and, more seriously, the continuous presence of microscopic traces of blood ('persistent microscopic haematuria'). The last symptom is a very important finding as most Alport individuals have persistent microscopic haematuria. Finally, about a year ago, after I had been in cardiac arrhythmia for three months (continuous heart palpitations), I went to my doctor who was worried enough by the presence of malignant hypertension, to send me to hospital where my blood pressure was measured at 180/140. (To put this into some sort of perspective, a healthy, resting adult normally has a blood pressure of 120/80 and the borderline for hypertension that requires treatment is 140/90, so this was very high!). Increasing hypertension with age is also an important symptom of the condition. A subsequent renal biopsy confirmed Alport Syndrome. My blood pressure is now controlled by a high daily dose of blood pressure medications.
Upon reflection, I can see why no one ever diagnosed Alport Syndrome before, because I wouldn't normally associate kidney problems with hearing loss or eyesight problems. In addition, neither of my parents appears to have any kidney or obvious hearing problems although the medical history of their parents is not fully known. I do know that my grandfather on my father's side died in uremia (accumulated waste products in the blood, which is indicative of end stage kidney failure) and a number of his relations also died very young at around 30-40, although the same was true of my mother's family in the early part of this century when life expectancy in Britain was generally much lower than it is today, but 20% of cases of Alport are new mutations anyway.
In terms of the day to day irritations of the illness, my hearing loss is by far the biggest nuisance and has severely restricted what I can do work-wise and socially and is getting worse. Originally, I wanted to study medicine, but it is impossible to get into medical school with a 50% hearing loss and so I became a biochemist instead, which is an allied biomedical subject. I also find that the condition completely exhausts me some days probably due to anaemia because of compromised kidney function as well as giving me back pain. As the condition is progressive, I must accept that end stage renal disease will inevitably occur sometime in the future and therefore this will mean dialysis on a regular basis, probably followed by a transplant. However, I still consider myself lucky compared to some sufferers. At the moment, I am still only mildly affected by declining renal function in the third decade of my life. Juvenile onset Alport Syndrome can be much worse and can cause accelerated renal failure below the age of thirty in some cases. At the biochemical level, the condition itself is caused by an unusual form of collagen (a structural protein molecule) that is present in kidney cells, lens cells of the eye and sensitive hearing cells of the cochlea in the inner ear as well as a number of other organs. In this respect, Alport Syndrome is a particularly interesting condition as it shows just how many problems can arise in different parts of the body if you are unlucky enough to have drawn the short straw and ended up with a faulty version of the collagen molecule.
I'm now looking through the Delphi Alport syndrome message boards which are very good. (I'm still not up to speed with all this new technology yet but I'm getting there slowly!) My health has undergone a spectacular trajectory of decline in the last 12 months and I will lose all remaining kidney function early in the New Year by the shape of the curve. The doctors in London tell me that I've already lost ca. 94% of renal function but I'm still not on dialysis yet. I learned something interesting recently; Lord Alport (who died here several weeks ago),who was once member of Parliament for our town and a retired diplomat, was also the Chancellor of the University I work at (I presume he was the son of A. Cecil Alport who first described the condition in the signal family). The university flag was flown at half-mast last week as a mark of respect after his funeral. It remains a surprising small and interconnected world!