This week, after several weeks of uncertainty, we have learned that the boys and I have a rare genetic kidney disorder called Alport Syndrome. At this stage, the doctors are going with a "probable Alports" theory, which will be finally confirmed (or not) once we've had genetic testing.
Alports is caused by a mutation in the genes responsible for building the basement membrane within the kidney. The membrane is made of collagen and acts like a sieve, filtering the blood. In some people, the genetic code for creating and maintaining this membrane gets mixed up and the result is (doctors think) a poorly constructed membrane and one that is easily broken down by the body's natural processes. Similar collagen structures are also found in the inner ear and the eyes and in Alports patients, also tend to degrade over time.
In Alports, the membrane in the kidney starts to leak; subtly at first, but later more dramatically. One of the earliest signs of the disease is blood in the urine. Typically this is in microscopic quantities, but occasionally (in particular when someone has a cough or a cold) it's visible to the naked eye. As the disease progresses, the membrane continues to leak, eventually to the point where the kidneys fail and the person needs dialysis and / or a kidney transplant.
Our story has been textbook so far. My eldest son Joseph, who's 10, has been becoming progressively deaf, something we initially attributed to the fact he'd had lots of ear infections when he was small. His hearing had been tested age 5 and we'd been told it was slightly below average but still within normal range. We were reassured he'd grow out of having ear infections and his hearing would be ok. Since age 8 though, his hearing seemed to get worse and in the last few months he'd started needing subtitles when watching telly.
In amongst all this, in October my youngest son (8) was sent home from school feeling poorly. Nothing specific, just obviously not his usual lively self. The following day, he'd forgotten to flush the toilet and I noticed his wee looked like coca cola. Off we went to the doctors, he was given antibiotics and we were asked to drop off another urine sample once he'd finished the course. He was well again soon after starting the medicine, so we dropped in the sample, thinking that would be the last of it. We got a call from the surgery later that day; his wee had been tested and whilst free of infection, there were other "abnormalities." Could we make an appointment the following week? So we did. Lo and behold, blood and a trace of protein in his wee. "I'm going to refer him to a specialist as a precaution" our GP said. "I'm sure it's nothing to worry about but these infections are rare in little boys and we need to know why he's got the blood and protein in his urine."
The first specialist ran some tests on Evan and a few days later, rang to say his tests had been broadly normal, aside from the blood in his wee. Then he said "this is just a theory, but with your renal history I think we should have your other son tested. Two of you, different ages and sexes might be a coincidence. Three of you might mean something else. Can you drop off a urine sample at the doctors?" Which we did. And that was how it started; the journey from healthy family to...well, something else.
The renal nephrologist started to piece together a jigsaw. In Alports, a diagnosis is usually reached after first excluding everything else because lots of things can cause blood in the urine. Protein is more unusual, especially in children, but progressive sensorineural deafness is something of a smoking gun; it simply isn't a feature of other renal disorders. The disease is much more serious in males, it's a bit like haemophilia, where women carry it and typically have milder symptoms, but their sons get the full blown disease. In 100% of male Alports patients, the kidneys will fail. The question isn't if, it's when. Genetic testing will tell us whether we are in the 80% of families where the kidneys fail in early life (typically starting in the teens, shortly after the hearing loss becomes noticeable). In some variants, kidney failure is delayed until middle age.
The future we had in mind as a family is now in question as we have no idea whether the boys will be having dialysis during their teens. Obviously this would have all sorts of implications and perhaps understandably, we are hoping they'll be in the lucky minority who are able to live a healthy life for longer. Even if they are in the majority, there seems to be quite a lot of variation between patients.
Sadly there is no cure for Alports, although the disease can be slowed with the use of ACE inhibitors (which I'm on to protect my kidney function.) Hearing aids will help and we will all be monitored regularly.
It's now all about living life and enjoying it. None of us know whether we will be in good health next week, next month or next year but the boys are healthy, for now. I predict an ongoing series of adjustments as things gradually start to progress. At the moment for us though, Alports is more of an idea than a practical reality. My kidney function is stable for now, although I'm having another operation in March to correct a related issue.
It's been a worrying and frustrating time and even once we found out what was going on, we struggled to believe it was true. I think we are still in shock at the moment. Definitely a useful reminder that you never know what people have going on in their lives!
