Michael Y

Age at interview: 25

Age at diagnosis: 24

Brief Outline:

Michael was diagnosed with X-linked Alport Syndrome very recently age 24. He has few symptoms and has recently started blood pressure medication. He feels overall that Alport Syndrome is more of an “inconvenience” and doesn’t let it affect his enjoyment of life. He is looking forward to travelling and living abroad in the future.

Background:

Michael was diagnosed with X-linked Alport Syndrome at the age of 24. He is currently a full time student. Ethnicity: White Scottish.

More about me...

Michael was diagnosed very recently with X-linked Alport Syndrome. His mum who has Alport Syndrome had been telling him to go to the doctors for some years but Michael put it off until he was 24. His twin sister and brother had both been tested and did not have the Alport gene and were “fine”. He also felt that he had no symptoms or that they were at the most, “invisible”. He went to his GP for a urine test which he remembers changed colour. He says he was “kind of surprised” but also had several members of the family affected by Alport Syndrome and therefore had already had quite a bit of exposure to it. 

Michael was referred to his local hospital, where he now has checks every three to six months. He takes blood pressure medication that has steadily been increased over the last year. He says that he has lost a bit of weight since starting the medication but doesn’t know if that is related to the medication.  He looks up his results on Patient View which he finds useful. On this, he can see that the protein in his urine has decreased.  

He says his kidney function is “still really good” and so he feels Alport Syndrome is more of an “inconvenience” right now. He says it doesn’t affect him day to day except for remembering to take his medication. He says that he sometimes forgets to take his medication a few times every month. He has tried to cut out salt from his diet as a precaution. He sometimes finds dietary changes a bit difficult as a student. The thing he worries most about is hearing loss as he likes to go to music gigs and concerts. He thinks this would be more disabling than a decline in his kidney function. 

When Michael was 5 years old, his mum had a kidney transplant. Several other members of his family have Alport Syndrome and a few have had multiple kidney transplants. He says he looks to other male family members as a “benchmark” for what will happen to him. He feels lucky that Alport Syndrome seems to affect his family “late in our lives”. 
Michael says he would like to live abroad for a period of time in the future, perhaps in the USA although he is concerned about health insurance and healthcare as he “is used to the NHS” and “great free healthcare”. Overall, he feels that there is a lot of scientific progress and he supports research because “exposure and attention” of Alport Syndrome “helps get funding”. He says he might take part in future research trials too.

Michael likes to read a lot and is into music and films. He is a particular fan of Poirot and spy thrillers from the eighties. He has a number of travel plans this year such as going to Sweden, Canada and New York. Last year he went Inter-railing around Europe with his partner. He feels his Alport Syndrome has acted as a “catalyst” for doing more things now because he says that being on dialysis would make travelling a lot harder.  

Michael Y: explains his family history of Alport Syndrome, and how he finds it sometimes easier to just call it ‘kidney disease’.

Well when I was 5, and my sister was 5, and my brother must have been about 8, she was getting her kidney transplant. So, I mean, that's simple enough to explain. But Alport syndrome isn't something really that's - it's quite complicated. And it's easier just to say sort kidney disease, kidney transplant. My [clears throat] Mum has it, my cousin has it, my Mum's cousin has it. And then there's also a couple of carriers with it, who aren't affected by it, in the family. So it's very sort of popular [laugh] and known in the family. So when I was diagnosed, I understood what it was, but-. That's only because, such exposure to it from pretty much [laughing] my family or so. I’m not sure.

Michael Y describes putting off getting tested and his surprise at being diagnosed.

So it was early September last year. So, 2015. And I actually should have been diagnosed pretty much when I was born, because - well not when I was born, because my Mum was diagnosed in 1996. So, since it's hereditary, the process should have started, where it's like "Okay, your kid should probably be checked now" [laugh]. But obviously I put it off until I was 24. And it was after years of my Mum being like, "Go to the doctor, go to the doctor, go to the doctor." And then I finally went. I don't know why I took so long, it was quite foolish, but-. And then it was just the dip test that they do, to test for it. So the stick changed colour, and it was like nine in the morning or something, and then that was just like [groan] [laugh]. Like not speechless, but just kind of surprised. I knew it was hereditary but I kind of thought - because my twin sister got diagnosed a couple of years earlier, and she was fine. So I was like [groan] [laugh] my twin is fine then, I was just - my brother got diagnosed as well, and he's fine. But-. 

So, yeah. I got a dip test done, it was nine in the morning. My doctor was like "Oh. Can you come back in a couple of hours, or an hour? Because that's when I'm free for an appointment, and we can do blood and urine samples." So I just went away, started drinking lots of coffee in between the wait. Didn't realise that that would just shoot my blood pressure up as well, which is not something you want to have as soon as you get tested for an illness. But after the diagnosis I was referred to the hospital and the renal facilities there, where I met [doctor], and he sort of - it's who I see now every, pretty much every three to six months, I guess. So they, they got me started on the Lisinopril. Was it 2.5mg first? And then 5mg, then 10mg. And now I'm on the 20mg, and I think I'm on that, and I don't know if they'll put the dosage up or anything. But I'm reacting fine to the medication. I lost a bit of weight since starting medication but I don't know if that's relevant. 

Michael Y got a phone call from his consultant to tell him about his genetic test results.

Like if when I got my genetic test done, I knew it was gonna be three or four weeks until I get the results. You know, as soon as he got them back, he sort of called me. Even though it's eight in the evening, or something like that. He didn't want to sort of wait for our next appointment. He phoned me and asked, you know, "I've got the results, do you want them now? Or do you want to wait?" So, yeah. It's a pleasant experience.

I was in my partner's flat, just about to eat dinner [laugh]. And then [doctor] just phoned me. Which is fine. I mean, I'm not one for drama or anything like that, so. And I didn't want to wait until - I think this was in November, and the next appointment was sort of in December, end of December, so I didn't want to wait until then.

My surprise lasted about sort of a couple of hours from the initial urine test, which is completely instant, to just going back to doctors, getting blood and urine done, sort of going home and just being like 'ah, crap' [laugh]. And then sort of levelling out from there. Yeah. So my surprise was very short-lived.

Michael Y says having children is far down on the list of things after travelling and living abroad.

Yeah. It's made me think about the future a bit, in terms of having children. It's not putting me off having children, if I want to have children in the future. Anything like that. I went to Copenhagen at Christmas time, and as soon as I typed in Alport syndrome on like the travel insurance, I just noticed the price of insurance go up, like quadruple what it was, or something like that. And I kind of want to live abroad for a decent amount of time, so. That's probably the most annoying thing about it, that health insurance if I go live in America or something is gonna just cost me more than it probably - I'm used to the NHS. So I'm used to being provided with great free healthcare [laugh].

Well I don't know if I want children yet, or plan to have children, I guess. Neither does my partner, so. Because we're kind of - we're both at uni and we're both, well 25. And there's stuff we want to do, like travel, and things like that. And so it's far down on the list of things to sort of do, or anything like that. But I don't think Alports would prevent me from wanting to have children or anything like that.

Michael Y says that he wants to do lots of things before dialysis or a transplant.

Just oh yeah, in the future I'll probably need to go on dialysis or get a kidney transplant, so. Because it's not physically there yet, I think we're both sort of just trying to get as much stuff done now, as well. Just because travelling will be a lot harder then than it is now [laugh].

Is that because of the Alports in the back of your mind? Or is that -

It's kind of like acted as sort of a catalyst to it, I think. It's kind of just been like 'well, this is gonna catch up with me eventually, so might as well do the things I want to do before I'm sort of not able to for a while, if I'm on dialysis or if I'm - have a transplant', and things like that.

Michael Y feels hopeful about the future because of scientific progress.

As soon as I got diagnosed, that's when I started diving right into all the research and stuff. And because it's kind of on a case by case basis for each family, it was kind of like - you know - one thing was like you'll be dead by 40, sort of thing [laugh]. Which was like, looking at my family, no one really dies at 40 in my family especially. Because if you get diagnosed, there's at least some form of treatment, and things like that. Also the progression of gene therapy as well, that's something that's interesting, and is coming up time and time again on the news and stuff, where mainstream bodies are getting funding and permission to carry it out. Lots of gene therapy, so. I don't think the future's bleak or anything like that, it's always gonna progress scientifically, and. I think my Mum's a bit too optimistic about it happening in sort of my timeline, for it to be really preventable, but. It's why I'm fine with doing all this research stuff, because exposure and attention sort of helps get funding, and so on and so forth.

Michael Y is most worried about hearing loss because of the loss of communication but hasn’t asked yet for a hearing test.

One of the things that is worrying about Alports is the hearing loss. My cousins had some hearing loss, and has had, has to wear, wear a hearing aid now. Because I like music, and like going to gigs and stuff. Like I went to my first gig after I was diagnosed, just a couple of months ago, and I was very conscious about how loud it was, and how I probably shouldn't be standing right next to the speaker. And kind of like two days after, my ears were just ringing [laugh], so. That's probably the thing I'm most worried about, I think, hearing loss.

Have you had your hearing tested at all, or?

No, I've not had it tested, but I've not noticed any differences in hearing loss. When I was talking to [doctor], my partner made a joke about just sort of hearing what I want to hear. And I think he took that on as something to keep track of, so. In my little medical letter that I received, it was like keep an eye out on like hearing loss and stuff like that, but. Well I've not been tested, and I'm just assuming that nothing's changed since I was young, but.

Yeah. I think so. Just because I think that's in some ways more disabling than what will eventually be kidney disease, because it's just a sort of loss of communication. I know they can balance it out with hearing aids, but it's because I consume a lot of media and things like that, it's - it is what I'm most worried about, yeah.

Michael Y’s partner wanted him see a doctor and get a diagnosis.

She - once she sort of knew the family history of Alport Syndrome, she was like same as my Mum, just [laugh] telling me to go to the doctor, and stuff like that. I don't know why I didn't, probably just laziness, to be honest [laughing]. Which in hindsight is so, so stupid and terrible of me. But at least I, I did get diagnosed. But my partner's been supportive. She obviously read everything as well, once it happened, but. I mean, I think everyone's got something wrong with them they need to monitor, and things like that. So it's just, just a hoop you need to sort of jump through, and that we need to remember. Just oh yeah, in the future I'll probably need to go on dialysis or get a kidney transplant, so. Because it's not physically there yet, I think we're both sort of just trying to get as much stuff done now, as well. Just because travelling will be a lot harder then than it is now [laugh].

Michael Y says that he got some dietary advice from PatientView and is cutting down his salt.

And once you click on that, it brings you to links that, like dietary information and things like that, which is useful, but I'm not at that stage of kidney disease yet, where I need to keep to a strict diet or anything yet. I've tried to cut a lot of salt out of my diet, as much as I can, so. Just as a precaution, sort of thing.

Yeah, have you made any - so you've made an adjustment, slight adjustment to your diet. Have you done anything else, is there any other impact that the diagnosis has made on your everyday life?

Not really. I just am conscious not to salt my food. And I don't really buy like the ready meals or anything like that, because of the high salt content. So they put the fear of god of salt into me [laugh]. But trying to eat a bit healthier. Although living as a student I get - quite difficult, so. As healthy as I can.

Michael Y wanted more information after diagnosis and now looks up internet information to find out about other people’s experiences of Alport Syndrome.

As soon as I got diagnosed, that's when I started diving right into all the research and stuff. And because it's kind of on a case by case basis for each family, it was kind of like - you know - one thing was like you'll be dead by 40, sort of thing [laugh]. Which was like, looking at my family, no one really dies at 40 in my family especially. Because if you get diagnosed, there's at least some form of treatment, and things like that. Also the progression of gene therapy as well, that's something that's interesting, and is coming up time and time again on the news and stuff, where mainstream bodies are getting funding and permission to carry it out. Lots of gene therapy, so. I don't think the future's bleak or anything like that, it's always gonna progress scientifically. 

If there's something - or just, you know, if I forget anything to do with Alport syndrome, or just want to try and find other people's experiences of it, then yeah. I still google at least sort of a couple of times a month. I saw in the United States there was two twin boys maybe, who were both diagnosed with Alport syndrome, but had been misdiagnosed with whatever illness the doctors believed they had, for a number of years. And it wasn't until they were I think in their late teens when they started going through kidney disease. So I still Google, just to make sure like, to look at the differences between my family, how it affects us and how it affects other people's family. Because as I said, I think we're quite lucky that it's quite late in our - well not late in our lives, but later than some other people, when it starts affecting us. Because I think my - I think it was my Mum's grandad who was a medic in World War II, and he died when he was 30 from it. So I think that's sort of our benchmark of treatment. Like in you have to get treatment before you're 30, or else - that's when it might kick in. But I think my cousin's been on the same - I think the same sort of ACE inhibitors as me, for a long time. And I think [doctor] has used my cousin's sort of data in his research. And it looks as if the medication is sort of prolonging the time between well, the initial diagnosis and when your kidney functions start to fail further.

Michael Y feels his nephrologist is very knowledgeable and really likes him.

Well he knows my cousin, because he's who he sees at the renal unit, I think. So he also knows my Mum, I think, just because our family's so well connected within the Alports world [laugh]. But he's very lovely, he's very knowledgeable about it all. He seems quite excited by the new drugs and everything. It was his sort of typing up of Alport syndrome on the hospital website that I read. And then I saw him, so I was like 'oh, I can put a face to like the research that I've read, and things like that'. And I think he does do a lot of the Alports days things around the UK, so. It's quite nice, because Alports was discovered by an Edinburgh uni graduate, I can't remember when, in -

Cecil Alport. 

Mmm, yeah. In 1927 or something like that. So, coming from Edinburgh and being diagnosed with Alport syndrome, it's kind of like you know, a little bit of history [laugh] in itself. But [my doctor’s] really nice, I really like him.

Michael Y says that he appreciates his doctor’s knowledge and openness.

Obviously knowledge of whatever you specialise in. I've had GPs in the past who are pleasant enough, and know what they're doing, but it's always kind of seemed like a business meeting, and not really like a patient-doctor experience, sort of thing. And my partner, when she was growing up in [suburb], which is a slightly more deprived area of [place], she was saying - and she's moved now, but she was saying how the doctor care there was really quite terrible, compared to the middle class areas she sort of, sort of lives in now. Like they were wanting her to do like pregnancy tests when she was like 16 and things, when she had things wrong with here, just in case she was pregnant. And things like that. Whereas in the new doctors surgery where she goes, it's very nice and pleasant. I think it makes a big difference to appointments and going to see your ,your doctor, and things like that. Because if [doctor] wasn't as lovely as he is, I wouldn't sort of [laugh] - be like, 'oh I don't want to go', or anything like that. Or 'I don't - wouldn't really enjoy our meetings'. But I do enjoy our meetings, he's very knowledgeable, as I said.

So, sort of knowledge. But like more than that. Approachability, sort of.

Yeah. And he's very open. Like he has my phone number, and like I said, yesterday he just texted me out of the blue saying, you know, "Do you mind if I call?" And things like that. He's very attentive. Like if when I got my genetic test done, I knew it was gonna be three or four weeks until I get the results. You know, as soon as he got them back, he sort of called me. Even though it's eight in the evening, or something like that. He didn't want to sort of wait for our next appointment. He phoned me and asked, you know, "I've got the results, do you want them now? Or do you want to wait?" So, yeah. It's a pleasant experience.