Steve

Age at interview: 37

Age at diagnosis: 3

Brief Outline:

Steve was diagnosed with X-linked Alport Syndrome at 3, but didn’t have any symptoms until his early 30s. He was on dialysis for 8 months, and he received a live kidney transplant from afriend. He has had no hearing loss.

Background:

Steve works full-time and has a daughter, aged 4. He is active in a national charity and support group for people with Alport Syndrome. Ethnicity: White British.

More about me...

Steve was diagnosed with X-linked Alport Syndrome at the age of three. Although initially he was given a bad prognosis and his parents were told that he was not going live long, he didn’t show any symptoms throughout his adolescence. Steve considers himself lucky that his hearing was never affected, therefore he felt he had a “completely normal childhood”. At 17, he was wrongly told he had passed the ‘danger area’, as he had not developed any symptoms. His nephrologist subsequently referred him back to the GP.

Steve didn’t worry about Alport Syndrome until his early thirties when he and his wife decided to take part in genetics counselling for their newborn daughter. It was the geneticist who noticed that Steve had most of the symptoms of final stage renal failure. Steve recalls experiencing signs like a metallic taste in his mouth, leg cramps, and itchiness, but he felt that none of them were severe enough to warrant a doctor’s visit. He had thought he was ‘safe’, but he found out later that his GP failed to notify him about the indicators of kidney failure from a blood test.

Steve found dialysis “awful”. He thinks there is “a common misconception that it kind of keeps everything fine like […] a cure when it isn’t”. He remembers feeling constantly weak and tired during those 8 months. He is thankful that his employer let him work from home, but he feels that his social life suffered. He also had to be cautious with his diet, but he was happy with the dietary information and practical advice that the hospital provided him. 

Steve received a live transplant from afriend, to whom he will remain eternally grateful. He recalls noticing the difference that the transplant made immediately, and only then he realised how sick he looked and felt while on dialysis. Although his recovery was set back by a muscle tear, he was so focused on getting better, he didn’t feel the passing of time. In retrospect, he thinks that this period was much more challenging for his wife who was taking care of Steve and raising their daughter at the same time.

Steve feels that although the hospital provided him excellent medical care, their mental health support was lacking. He remembers feeling extremely anxious after the transplantation. He was worried about how long his new kidney would last, and what implications another renal failure would hold for his family and his friend who was the donor. The doctors couldn’t provide him much reassurance apart from giving statistics on the longevity of kidney transplantations. It was talking to other people through Alport UK that gave him the hope and emotional support that he was looking for. 

Steve’s message to other patients is to “be their own experts” because doctors can make mistakes. He would also advise newly diagnosed people to “find other people in the same situation” because it’s a way of getting “realistic information, not just statistical information from doctors” and “also some understanding”.

Steve talks about his earliest memories of being diagnosed and how he was told not to worry about his diagnosis.

My earliest memory is of having blood tests as a child. My mum tells me that, that I took some tablets, or my parents thought I'd taken some tablets that belonged to my grandparent and they took me to hospital to get me checked. Turns out I hadn’t but I had some blood and protein in my urine, so they did some more tests and somebody at the hospital at the time figured out I may well have this condition and it took some time to figure it all out. But yeah they worked out that I had Alport Syndrome back when I was three. However they didn’t really know what that meant. They had like a really bad prognosis for my parents; they were told to expect that I wouldn’t like live for very long back at that time, so that was a bit of a nightmare. But, as it turned out, I did, you know I'm still here, and as the years went by that the prognosis would change. So, I was seen at the hospital every year for a blood test and then when I got to seventeen I was being seen by [name] hospital. The nephrologist there told me that I'd passed what they considered to be like the danger area. They said usually kidney failure happens in younger adult, like in, sorry like adolescence or teenage years and that as I was kind of coming out of that time I didn’t really need to worry so much about it and they discharged me to the doctor to have yearly blood tests. So, I never worried about it after that. I'd go and get my blood tests and then I'd just go about my normal life. It wasn’t until I was thirty, sort of thirty two/thirty three that, that I started worrying about it again and my, my wife and I had a child and she knew that I, my wife knew that I had the condition but never really understood what it meant and she would, she'd looked online and at the time the only kind of authority on Alports was an American website, they had a patient support group there, and it was a kind of a lot of worry around Alport Syndrome, a lot of bad stories, so naturally she was worried about our daughter.

An appointment with genetics prompted Steve to pay more close attention to his own health.

So we agreed to go and see geneticists at [hospital] in London, and we went there to see, to see the professor there – [doctor] – and she advised that my daughter would carry the condition because genetically it's linked for me to pass down to any daughters on the X chromosome. But she focused on me mostly because I was thirty three and I still hadn’t had a transplant and, so yeah it wasn’t until that time that I really started to consider the fact that maybe the doctors had been wrong and that perhaps I should have been looking more closely at my blood test results and really thinking about, you know, myself and my health as I'm going along. And it wasn’t until that evening that I went home and Googled for the first time the symptoms of kidney failure, and on the NHS website it gave a list of ten individual symptoms, and of the ten there I had eight. So, I went back to the doctors the next day and they did a blood test there and then, and the doctor rushed the test through because he looked at the previous two years results and saw that both tests had indicated that I was in like the end stage of renal failure and they just hadn’t really told me. So, yeah that’s an entirely different story.

Steve talks about ACE inhibitors and scientific progress for Alport Syndrome.

Yeah well I mean it's kind of from two different angles really. With Alports they're talking about using ACE inhibitor drugs, like a blood pressure tablet type things, to slow the progress of the damage to the kidney, which means it could last until much later in life. So, whereas the kidneys damaged and could fail at a young age, they can push that back so that they can get through school, build their social life, get through university without having to worry about missing out because of kidney issues which people generally do. They lose a huge chunk of their young adult life to it, or teenage years to it. So that, that, you know already there's, it looks like that can change. And from the other side of things, from the transplant side, there's so much work being done with organ donation, and it's in the news quite a lot more often these days than it, that it has been about successful tests in transplantation, you know in animals currently with a -. They're getting working kidneys that have been kind of made from, created in stem cells of animals to help them produce, you know artificial organs that work to a certain degree. But it's promising anyway.

Steve was rushed into hospital with six percent kidney function.

I went to my local hospital straight away. I was put into their emergency assessment unit and shortly after being there they, they performed like a, an emergency surgery to put a line for dialysis into my chest which kind of went up round the neck and down into an artery somewhere near the heart so they could take blood and clean it and put it back in. So, I went upstairs straight away and I did that three times a week for seven or eight months. So, I was lucky again; I had a friend come forward straight away; I had a few people come forward including, including my wife.

Steve was able to work from home around his dialysis and transplantation.

With the job that I do I normally I have to be in an office; normally I have to interact with people, well at least I did at the time, the general public. I was very, very lucky in that I'd just started a contract somewhere and it was the second day that I had the job that I was diagnosed and started hospital. So, I was a self-employed contractor at the time so, normally when… couldn’t work is they'd ask you to leave and they'd find somebody else to replace you. The place I was working for were very kind; they, they gave me a laptop and they said I'd be able to work from home. So I changed the nature of the job I was doing with them and worked from home for throughout the whole time. So it didn’t affect my work at all, through all of the dialysis and transplantation, I was working from home so that was really good. Socially it had a massive impact on my life. I moved a distance from where most of my friends and family are a number of years before I was diagnosed, and I would often go into London on a weekly basis, if not every other week, but I didn’t really have any energy for that at all – concentrate on driving and just kind of going out and about, it wasn’t really a realistic thing. It was, yeah it was tiring so.

Even though Steve said dialysis was necessary it felt like his body was running a marathon.

Dialysis itself you're on the machine for four hours; generally the whole segment takes about six hours to get done, so you turn up at the hospital. For other people they end up, you know they have needles in their arms and everything to, so the machines can do their job whereas I had a line in my chest with some tubes that they would plug into the machine. The whole time you're on it it's like your body's running a marathon while you're sitting still, so your blood pumps so much faster and you're metabolising at a far greater rate than normal. And for hours afterwards you could hear the sound of your blood racing behind your ears, and that makes sleep nearly impossible. Along with the, just the whole sensation, it's hard - , really hard to describe it. It felt - , it felt like I'd run a marathon, so my body was exhausted but my mind was really awake so yeah sleep became really difficult and so I -.

Yeah with dialysis they take fluid because you're not really going to the toilet as much as you should; some people don’t go at all. They take fluids, like excess fluid from your body, which can cause really severe cramping. Although for me that improved the cramps for a while because I had all these cramps before I had them because I had too much fluid in my body. So, once they kind of - , they get through and they get rid of it all. Eventually they can take a bit too much and that can cause the same problem. So, they try and kind of find a weight that they want you to be and take off enough fluid to keep you at that weight. But it -, my blood pressure increased so I had to have medication for that which caused various side-effects as well. Yeah so it's [sighs], it was difficult but it was necessary and it, it kept me going, but you could see, you could see that -. I'd do Monday, Wednesday and Friday, so every other day apart from Sunday I wouldn’t do, but the extra day between Saturday and Sunday and then having dialysis on Monday; Sunday you could feel the difference in not having had dialysis for that day. Yeah it would, it was pretty awful; your body kind of feels like it wants to shut down and I suppose that is what it was trying to do but-.

Steve’s donor lived in another country and things moved very quickly.

And so the transplant was, the testing was all rushed through because my donor lived in another country and he had to come over and so they managed to get that all done quite quickly and we were fortunate that a space became available for the transplant quite early on. So, it was supposed to be about a year I think they would have taken but yeah only, only seven months so yeah.

Well it's just the timeframe that it all happened really. By the time he could be arranged to come over and get tested; it usually takes about three months I think, but with him they managed to get all the tests done in the space of a week. 

Right

They gave us a window for, not sure when it was now, sometime in August I think and a space became available in May, so yeah it all kind of jumped forward, it was all very last minute but it, yeah but I'm fortunate again that I had a live donor. I've known people that are on dialysis for years, like many, many years that weren't fortunate enough to find a match.

How did you feel with the run up to the transplantation?

I, honestly I started to have doubts but only when my, only where my daughter was concerned. My grandfather died when my mum was very young and she grew up never really knowing him, and my daughter at the time was, you know she was one year old. So, I had the same fear that if there's something wrong with the operation that she might grow up never knowing me.

And but then you kind of look at the other side of things where I couldn’t stand dialysis forever and you can't have a like a normal life on haemodialysis really. So, it was the better option and yeah there was fear, but at the same time I was generally too tired to really let that kind of affect me and I'm glad for that I think cos once I had the operation immediately my mind kind of came alive again.

Steve describes what happened before his transplant and his donor going into theatre first.

Right, so my donor flew over from Sweden where he was living at the time and he stayed with us for a couple of days, and we went to the hospital the day before to have some more tests; I had to have a final dialysis as well which thankfully was the last one. They were concerned that, that my donor, [name], had had, he may have had a cold which would have just stopped the operation straight away.

Right

So they were keeping an eye on him because, you know his airways had to be clear for the operation and everything.

Yes yeah

So but yeah on the morning of the, so, we both stayed at the hospital the night before. I had one last dialysis which he sat through me with, yeah sat through with me. And we stayed on the ward which anyone that’s stayed at hospital, in a hospital knows that it's loud and bright. So, come the morning we were both quite grumpy. He went down before I did.

Because they do the whole job of kind of, you know getting him prepared, opening him up, see if the kidney's good, see if they can, you know just to make sure that it's removed OK and as they're doing that they then wheeled me down to the next theatre. Yeah so that was -. I should probably have felt scared but I don’t remember feeling scared. I think that the whole thing just happens really quickly.

They don’t give you much of a chance to kind of get into a really worried place. They're really reassuring and they kind of show up – there are half a dozen of them and then they just wheel you away and yeah so. Yeah they take you downstairs, they give you a couple of injections and I think they asked me to count ten maybe.

Is this the anesthetic?

Yeah

Yeah

And then nothing else. And then I woke up in a recovery room and apparently the first thing I asked for was a bacon sandwich, not how my donor was; not, not to tell my family I'm OK – can I have a bacon sandwich?

Steve had a lot of anxiety after his transplant and found it helpful to talk to others in a similar situation.

I got a lot of anxiety after the transplant. The doctors tell you numbers; they give you averages for what, how long a kidney should last once it's been transplanted, and they tell you know the average is five years which seems like a really short amount of time. But then, so you kind of fixate on how long the kidney's going to last you know, and looking for symptoms and, you know really worrying about how long you’ve got before you’ve got to start it all again and wondering whether or not putting somebody else through a transplant like my friend; him giving me a kidney, if it's worth his pain or his trouble, and it's not until I started talking to people in similar situations that I've met. I mean, last year from the transplant sports team went to celebrate a thirtieth anniversary of a kidney with someone. So, it's continuously being exposed to things like that that shows you -. Some of the doctors give you averages; it's just based on averages for everyone you know, whatever age, whatever condition the person's in before the operation, whatever condition the kidney's in. You don’t know how they have looked after themselves so they just give you the raw information. So, you know I look after myself as best I can; I eat the right things, I take my tablets and I'm meeting other people that do the same thing that have had kidneys for a very long time – it gives you a lot of hope that, that that would be the same for me, and in that regard I don’t really worry so much anymore.

Steve says that having a positive attitude is very important with Alport Syndrome.

Yeah I think as a person with Alport Syndrome, and transplant recipient, you have the choice to either let the worries wear you down and stress, or move on, you know accept what's happened and carry on and I think the positive attitude is the same for many, many illnesses. I think, you know if you're negative about it then, then it can actually affect, you know to, you know the attitude isn't, I think it has a physical aspect as well. So yeah I'm very positive about the whole thing; it's been rubbish and I certainly wouldn’t have wanted any of it to happen but I had no choice, so I can choose to dwell on it or I can get on with my life and that’s what I'm doing.

Steve’s workplace allowed him to work from home throughout dialysis and transplantation.

With the job that I do I normally I have to be in an office; normally I have to interact with people, well at least I did at the time, the general public. I was very, very lucky in that I'd just started a contract somewhere and it was the second day that I had the job that I was diagnosed and started hospital. So, I was a self-employed contractor at the time so, normally when… couldn’t work is they'd ask you to leave and they'd find somebody else to replace you. The place I was working for were very kind; they gave me a laptop and they said I'd be able to work from home. So I changed the nature of the job I was doing with them and worked from home for throughout the whole time. So it didn’t affect my work at all, through all of the dialysis and transplantation, I was working from home so that was really good. Socially it had a massive impact on my life. I moved a distance from where most of my friends and family are a number of years before I was diagnosed, and I would often go into London on a weekly basis, if not every other week, but I didn’t really have any energy for that at all – concentrate on driving and just kind of going out and about, it wasn’t really a realistic thing. It was, yeah it was tiring so.

Steve connected with others who had gone through similar experiences through the Transplant Games and says they are like his ‘transplant family’.

And with the post-transplant I got involved in transplant sports, so I've met dozens of other transplant recipients who have all been through the same thing; some of got better stories, some have got worst stories you know, they're, it's a big shared experience and that I think is the best support that I've had you know. It's really useful to have that place to go to find someone you can talk to.

I mean people do things they couldn’t do before, or they wouldn’t have done before. I've -, Transplant Sport is an organisation that raises awareness of organ donation about the country and about the world in fact as well, and once a year there's a big sports event where anyone that’s had a transplant can take part and you know do sports. So, it's like a mini Olympics for people that have had transplants. So, it kind of -. Every hospital that’s got a transplant unit has got their own team and they can go there and compete and, yeah it's a really, really good, good time; it's over five days and yeah I've, you know I've learned to play volleyball, I started doing archery; just things that I do now for myself, for fun, outside of the events. But it's also, it's a nice way of, you know spending some time with people, I consider them like my transplant family at the hospital, you know we meet up outside of that; we do other events about the place and really it's driven me to kind of get involved a lot more than I would have done before with sports.

Steve’s GP didn’t notify him about his blood test results which showed his kidneys were failing.

Well to be honest with, with the nephrologist, I'm indifferent because they didn’t know any better. When it came to finding out that my GP had failed to notify me of changes in my blood that showed that I was critically ill, I was very angry.

For quite some time.

But I managed to kind of channel that into something else cos I also had to be well – be a father - and you know actually get through the whole process of dialysis and transplantation which really were more of a problem than the anger I felt towards my doctor.

So yeah but nothing came of that. I made complaints to the correct authorities and, yeah nothing came of that in the end, so that is quite rage inspiring but not much can be done about that really.

Steve feels finding others in the same situation can be very helpful.

Well I'd, I suggest they look to find other people in the same situation. Alport UK, the charity, have brought so many people together, you know there's even a page on Facebook where people can go and ask questions but I mean they can match people in similar areas if they want to talk or meet. I've spoken to a few people on the phone that have had their children recently diagnosed, or they’ve been recently diagnosed themselves, or they're about to have transplants and, you know want to speak to somebody that’s had that experience. It's, yeah finding people with, with common ground is a really good way of, of getting information, realistic information, not just statistical information from doctors, and also some understanding.