Michael X

Age at interview: 82

Brief Outline: Michael’s first wife was diagnosed with X-linked Alport Syndrome, and his daughters and two of his grandsons also carry the Alport gene. Michael finds that renal failure is the most serious aspect of Alport Syndrome, yet he is hopeful that transplantation will develop significantly in the near future.

Background: Michael is a retired consultant surgical gastroenterologist. He is married with two daughters and has three grandsons. Ethnicity: White British.

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Michael’s wife didn’t know she carried the Alport gene when they got married. She developed renal failure within the first couple of years of their marriage and went on home dialysis three nights a week. She had two kidney transplants. She received the first one 10 years into the dialysis, and it lasted 10 years. Her second kidney transplant lasted for 6 years, but when it started failing, her general health also declined. She passed away soon after due to cardiovascular complications.

Michael’s wife’s family history revealed male relatives who died from pneumonia at a young age, but Michael suspects it was caused by undiagnosed renal failure. However, Michael’s wife only got the definite diagnosis once their children were confirmed to have Alport Syndrome. The diagnosis confirmed that both of Michael’s daughters and two of his grandsons had the gene. Michael feels that the family members’ diagnosis is “a horrible thing to have hanging over you in your life, even if you remain quite well”, but “you have to get on…and make the best of life”.

Michael doesn’t find that Alport Syndrome as such affects his family. He finds that it is rather the prospect of kidney failure that impinges on their day-to-day life. On the other hand, he remains positive because he believes the biotechnological developments in organ transplantation will provide a real hope for people with Alport Syndrome. 

Michael feels that the medical care his family members received has been “astonishingly good for what is a very rare disease”. He doesn’t expect health professionals to know everything about Alport Syndrome, but he thinks improving the management of renal failure would benefit not only people with Alport Syndrome, but also others with similar kidney-related health issues. He would also like to see more engagement between people with Alport Syndrome and other rare genetic conditions that lead to early onset renal failure. 

Michael’s advice to young people with Alport Syndrome is to “live life to the full” and to make use of the information provided by medical professionals and peer support networks.

Michael X who cared for his late wife Sal with Alport Syndrome, remembers the first home dialysis machines and early treatment for Alport Syndrome.

When I married my wife, all those years ago now, we had no idea that she was carrying the Alports gene. Because the only evidence for it came from not her mother, who had no sign of the disease but was obviously a carrier, but from the male antecedence of her mother. And when we subsequently discovered that poor darling Sal, my wife, Sally had got the disease, we obviously looked back at the family history. And my mother's male relatives - several of them, quite a few - had died in their teens or early twenties. And the diagnosis at the time was pneumonia.

Ah.

And when you look back, okay it probably was pneumonia, but it was caused by renal failure, which nobody knew anything about, you see. That's our guess. So it as quite a shock to discover within a couple of years of marrying my wife, dear now departed Sal, that she had this dreadful disease. And it was right at the beginning of the development of both dialysis and later transplant. And she had to undergo dialysis in [hospital], for the whole of the first year of her renal failure. And I drove over from [place], because I was a very busy young, new young consultant, fully occupied on-call every other night, and quite often every night [laughing]. So I couldn't come, except to come quickly and then go back , with the registrar treating the patients meanwhile, and see her. Because it was agonising. And I had the two young children, which had to be looked after. They were aged I think 5 and 3, or something like that, when she developed renal failure. So for a year I had various lovely assisters - my mother, helpers, nurses, coming in, because I was totally busy being a surgeon, but coming in and helping both at night and at home. Whether I was there or not, to look after these two young children. So it was a difficult few years. And then after one year, a difficult first year - after one year, very happily they had begun to develop - and we were one of the very early ones, probably not the first, to have a home dialysis unit. Which we had installed. And I think it was very experimental in those days, but the wonderful [place] renal team came over with a van filled with stuff, which they installed in our attic, in our home in [place] in [county], where - which was my first home with Sal. Which is an old [place] house, but the attic was just an open space. And we had to insulate, and various tiles used to drip water so we had to get it properly lined inside [laughing] to keep the water out when it was raining. And we had one bit of the attic made into an upstairs home dialysis unit, where they installed a mobile kidney. And the first one was a kidney which Sal and I used to make. It was in the days before there was a chuck-away artificial kidney unit. You had to put together the cellophane sheets on a plastic sheet, and you had the patient's blood come from a, short-cut between the artery and the vein, where you put the dialysis needles in, and that blood went out into the machine and then came back to the, through the, to the venous end. And at the other side was the dialysis machine putting in the dialysis solution against the blood. And that was in a giant - have you seen them? The old-fashioned kidney? Yeah?

One of those in our home. And we did that three nights a week. So we'd get the children fed, and get them to bed at - well, we hoped by about seven or eight, or something like that. And then get Sal upstairs. And I used to put the needles in. Which meant that happily the one - and I think she only ever had the one - what's the word for the short-cut?

Fistula? 

Fistula. AV fistula. And so being reasonably surgically competent [laughing], I did the bit of local and put the big needles in. And we were always able to use that same one fistula, because I used different bits of it and was careful with it, and all the rest of it. And so it went on for ten years, which was simply wonderful. And then along came the first family transplant. Whereby from a donor, I can't remember the detail now. She had her first transplant, which was an absolute dramatic and wonderful breakthrough. And it lasted ten years. So she had ten years dialysis, and ten years single transplant. But it failed at the end of that, and she had another six years. So we're now at twenty six years, the second transplant shrivelled and failed. And it was sort of alright, and it was sorted out, but her general health rapidly declined. Particularly from a cardiovascular point of view. And not too long after that she died of cardiovascular complications. So that we - that became the end of her life, which was sad and troubling.

Michael X says that he admired his late wife Sal’s attitude and ability to cope.

I think only to say how immensely grateful we as an Alport family are to the services that have provided the stunning treatment for a) first in my poor darling Sal, who got many years of happy wonderful life, partly because of her super personality, her ability to cope with renal failure, and to appear as if she had no disease. She was totally, totally [laughing] actively normal in her look, her dress, her behaviour. A lot of people had no idea that she was in renal failure.

Really?

Even when she was dialysing. Unless they knew her well, then they couldn't avoid finding out. And never mind when she was transplanted. I mean, then it was much easier of course.

So was life very normal then?

Absolutely. And that's very much an amazing part of her character. Far from being, being oppressed or depressed by it - of course there were times of those feelings, but she never, ever showed them. And to her friends, she was a bubbly cheerful totally normal person, with two small children [laughing], and on dialysis, or going to the operating theatre and having to have a second transplant, or whatever. It's not easy. So I couldn't admire her ability to cope with it more. And it's not given to everybody, so it was an astonishing characteristic, that people didn't even know she was ill, a lot of the time. 

Michael X says that it’s a balance between living life to the full and taking care.

Yes. Well, you've got - you must live life to the full. And you must do the things that make your life worth living. But balance it against some care. There has to be some care, there has to be. And the medics and scientists will give you advice about that, as to what you can and can't do. Can't eat, for example, what drugs you can and can't take, for example. So it's important to be - to get advice, and to get management advice to young people with this awful threat of renal failure.