Michelle

Age at interview: 47

Brief Outline: Michelle has benign haematuria (blood in the urine) and is a carrier of the autosomal recessive inherited Alport gene. Her children were diagnosed with autosomal recessive Alport Syndrome. Although Michelle’s children don’t have severe symptoms, Michelle is worried about their long-term prognosis, especially since there is not much information on their type of Alport Syndrome.

Background: Michelle works part-time as a teacher. She is married with two children, a daughter and son, aged 21 and 13. Ethnicity: White British.

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Michelle’s daughter and son were diagnosed with autosomal recessive Alport Syndrome at the age of 14 and 7 through genetic testing. The tests also revealed that Michelle and her husband were both carriers of the Alport gene, something neither of them were aware of. Although the diagnosis explained her daughter’s chronic haematuria (blood in the urine), Michelle didn’t know what the diagnosis meant at the time. She feels that there is still little information available on autosomal recessive Alport Syndrome. Therefore, she worries about her children’s prognoses, which sometimes makes her think that not knowing about the diagnosis was easier. On the other hand, one of the consultants advised Michelle not to look up information online because the little information that’s available is predominantly negative. Michelle also found that going online makes her “worry unnecessarily”.
Michelle and her family have been to one of the information days of Alport UK, a charity and support network. Although she found it useful to talk to other people, she thought it was hard to see how other younger people were affected by the condition. 

Michelle feels that her children have not been severely affected by Alport Syndrome. Her daughter has haematuria but is not on medication. Her son is on ACE inhibitors and he is short-sighted, but Michelle is not sure whether the latter is Alport Syndrome-related. Michelle would like her children to be able to “live their lives, and do whatever they want to do”. She believes that it’s important not to let the diagnosis impinge on their family life, and to deal with any problems as they come along.

She is very happy with the medical care her children have received. She thought it was reassuring that the geneticist took her time to explain what Alport Syndrome was and encouraged her and her children to ask questions. However, she found that other health professionals rarely know what autosomal recessive Alport Syndrome is, so she often has to explain it to them.

Michelle’s daughter had recurrent tonsillitis infections and it was during this time that blood and protein were discovered in her urine.

She also had a tonsillitis type thing at the time. So they treated the tonsillitis and that cleared the urine problem. This happened quite frequently when she was younger. And in the end they decided there was something to do with her tonsils. So at 4 years old, they removed her tonsils and adenoids. But still there was [throat cleared] a presence of blood, and sometimes protein in her urine and they didn't know why. So eventually after lots of different consultants not really knowing why but she seemed fit and healthy, they decided to refer us up to [the hospital], to [the doctor], to the nephrology department to see if there was anything else.

And at 5 years old she had a biopsy, which told us that she had - well, they didn't really know what she had actually.

Ah, okay.

Something. And she - benign haematuria is what they called it to begin with.

And they thought it was a genetic thing. So then they took follicles of hair from various members of the family. Myself included. My father, my grandmother. And incidentally, my grandmother has had a kidney removed. My dad has traces of blood in his urine. And I do as well. So there is a link through the family with it all.

Okay.

Nothing really happened. We went up to [the hospital] annually, and they checked. They didn't really know what was causing it, but other than this traces of blood and protein in her urine, she was fit and healthy.

Blood tests didn't really show anything. But they wanted to keep, keep seeing her. Alport's wasn't mentioned at this stage, it was just benign haematuria but they needed to keep a close eye on it. And since she had her tonsils out, she didn't get the throat or infections, so it didn't seem to affect her. Then [my son] came along, and they wanted to see if he had it. And apparently he is more severe than her, and apparently that's common, that boys - it affects boys more than it does girls. And he didn't have to have a biopsy because he had exactly the same symptoms as [my daughter]. Slightly more blood sometimes in his urine than [my daughter]. They did a blood test on him but didn't do the, have the biopsy. And they did the follicles of hair, and they did that again on all of us, about - gosh, it must have been about five, six years ago. And [my daughter] then had the opportunity to go up to see [the doctor], into the genetics, to explain how it's all linked to the genetics etc. And it was then that - that was the first time that the word Alport's and autosomal recessive Alport, and it was [the doctor] that actually said that that was the condition that they both have. 

Michelle talks about her daughter’s experience of going to the adult nephrology department.

Well, apart from every time we go to [the hospital] she sees a different consultant that hasn't got a clue about anything. It's fine. At the moment it's okay, because I've still got that link with the nephrology at [the hospital]. When [my son]'s an adult and moves presumably to [the hospital], I don't know what - because they don't really have an awful lot of knowledge. They - all they know is they can't sign her off. Because she surprised [laugh] - one of the questions she has asked once, "Well, why don't they sign me off? All they do - I have to do, go with a urine sample, have to have my blood tests, three pots of blood, before - a month before I go, so they can check. They do my blood. I do a urine sample. And they do my blood pressure. And that's it. And they always say well we'll see you again in another year. If they're not going to do anything, why don't they just sign me off?" And I said "Because they have to keep checking that it is all still plodding along in the right way." 

And I guess it must be a relief though, hearing that everything is -

Oh yeah, absolutely. Yeah. Although they were really good, because her bloods had dropped, and she had a lot of trouble with her white blood cells. And they actually gave her some blood. She went in and they gave her a couple of pints of blood, to boost. Because obviously she was losing blood, as well, through her periods all the time.

And that's quite the nice thing actually, that - you know - although she said "What's the point? Just discharge me and take me off the books" Sort of thing. But actually it's quite nice going and having the blood tests, knowing that microscopically - and absolutely microscopically - your kidney function has dropped really, really microscopically, you wouldn't know, but that it's still okay.
So we know that it is having an effect, but it's so microscopic - so small - that it's nothing to worry about. But someone is checking that each year, to make sure that it doesn't suddenly become a problem with the kidney function.

Michelle talks about her children’s annual review check-up and feeling pleased that there’s been no changes.

How did you feel about the information that she [the nephrologist] gave you? And what did you think about the care, and things like that?

They're lovely. But you always feel - you know, it's a long trip up there. And they often have a scan, they'll have a blood test, you'll be in with the consultant for about ten minutes, if that. They check the blood pressure. Nothing else to tell. And you kind of feel 'I've come all this way and we've been waiting an hour to see you, and there's nothing else to tell me.' Which in a way is good, there's no changes to their health, and everything's carrying on normally. But are they going to be? And I suppose for any health condition, nobody knows, knows that.

Michelle felt that the geneticist explained things really well to her and her daughter.

Yeah, they gave us the diagnosis of autosomal recessive Alport syndrome. And that was through [the doctor] at the genetics.

How did you find the care there?

She was brilliant. And I can't remember what she - but she just drew us a picture. Because I went up, I went up with my Dad first, to hear it all. And then, then she drew a picture. And she was lovely. And really explained it. And then she said when the children are old enough, they could go up. And I came back and tried to explain it all to [my daughter], and she said "Well actually, I want to hear it as well." And so [my daughter] and I went up, and she again drew little pictures and explained it all to [my daughter], and gave [my daughter] the opportunity to ask questions as well. Which was really nice. Yeah, they were brilliant. And obviously they keep all your, all records. And she said at the time "Things are constantly, constantly changing." She linked it with cancer and said, "You know, ten years ago people were dying from cancers but now they're surviving, because of genetics and because of testing and research, etc., etc. Your information is really valuable, because it will help people, and help you, and help their knowledge and things."

Michelle’s son and daughter both have low blood pressure and her son takes his medication before bed.

They've tried my daughter on beta-blockers, because obviously if your blood pressure's raised it can affect your kidneys. But her blood pressure's quite low, and it just made her really dizzy, so she couldn't take them. But my son does take Lisinopril nightly, and his - although his blood pressure's quite low, because he's taking the tablet as he's going to bed, it doesn't really seem to have any effect on him. The only problem my daughter has now is that she's had to be put on the pill, because she constantly bleeds. And long term we don't know what the outcome of that will be, if they want to take her off as and when she wants to have a family whether she'll be able to, if the bleeding will stop. So that's the sort of, the next stage for her. But they both, they're both checked annually, and have their blood pressure, blood pressure checked regularly. Yeah, so that's our story, I think.

Michelle wants her children to live their lives to the full.

No, I just try to let them do whatever they want to do. [My daughter] went off to Kenya for a month.

Oh, wow.

And I had to let her go off and do voluntary work in the middle of nowhere. And then she went off to America for six months, to work in [corporation]. And I just ensured that she had all her medical information with her, so that if there was a problem - and that she had the right medical insurance. Think it's like anything, isn't it, you have to live - you either live life to the full and do what you want to do, or you sit back and let this whatever take over your life and rule your life. I don't want them to do that. Want them to live their lives, and do whatever they want to do. And if on the way we experience any problems, then we'll deal with them, I suppose.

Yeah, kind of. It's a bit of a balance, isn't it, this fear of the unknown, but then once you know sometimes too much knowledge - if you've got too much knowledge about something, sometimes it can be a bad, bad thing. It's trying to put it into perspective and think well they're both really fit and healthy, they're both enjoying life, living life to the full - you know, within their age group, sort of thing. Long may that continue, sort of thing.

There's no point worrying about something that never happens. That's easier said than done sometimes, but-. Yeah, you don't know what is round the corner. But no one does, really.

Michelle’s son is short-sighted so she says it’s important he is monitored regularly to spot any changes in his eyesight and hearing.

And so in terms of - so apart from the blood in the urine, there's not really many other symptoms?

No. No, they said to watch out for [my son]. With his eyesight, and his hearing. And he does wear glasses, he's slightly short-sighted. And they did say if he needed glasses that I needed to tell the optician. But they didn't have a clue what Alports was, and he was there googling on his machine. But he took a photograph of his eye as well, and said that it was healthy. 

And do you feel like you've got to monitor that? Or do you want your children to monitor themselves, or how do you fully manage - 

They're old enough now, that if they can't hear or see, you know, they would tell me. Because that was what happened with the glasses. He said "I'm struggling to read the white boards at school." And we hadn't said to him that, you know, "If you start not hearing things or not seeing things, you need to tell us." Because we've sort of played it all down quite low-key. So when he came and said, then naturally we took him to the opticians. And then obviously when we went up to the hospital, we said to them "He's now wearing glasses." And she made a note of that, because that is one of the things that can happen. 

Michelle says that it’s a balance between a fear of the unknown and having too much knowledge.

Oh, that was [the doctor]. Yeah, the nephrologist. She said, "You know, there's not a lot of information out there, what's out there isn't, isn't pleasant. And there are various different strains of Alport's. There's not enough information out there about each different strain. It's not tailored individually enough so, you know, it's not worth."

So when you said you had a quick look, what did you sort of find? What sort of stuff?

Kidney failure. You know, children or adults experiencing kidney failure. Not getting transplants quickly enough, and - you know - horrible. Horrible.

Yeah, kind of. It's a bit of a balance, isn't it, this fear of the unknown, but then once you know sometimes too much knowledge - if you've got too much knowledge about something, sometimes it can be a bad, bad thing. It's trying to put it into perspective and think well they're both really fit and healthy, they're both enjoying life, living life to the full - you know, within their age group, sort of thing. Long may that continue, sort of thing.