Deborah

Age at interview: 36

Age at diagnosis: 13

Brief Outline: Deborah has autosomal recessive Alport Syndrome. She doesn’t have any symptoms. To her understanding, even if her children inherit the Alport gene, they will only be ‘carriers’. Deborah would like to see more information on autosomal recessive Alport Syndrome and to hear about other people’s experiences.

Background: Deborah is engaged to be married. She works full-time. Ethnicity: White British.

More about me...

Deborah was diagnosed with Alport Syndrome through a kidney biopsy at the age of 14, after experiencing regular stomach cramps. At the time of her diagnosis, her hospital didn’t have the technology to discern the type of Alport Syndrome, but later a DNA test confirmed she had the autosomal recessive form. Deborah hasn’t experienced any symptoms so far. She goes for regular hospital check-ups, and is on blood pressure medication.

Two out of six of Deborah’s siblings carry the Alport gene. All of them have the autosomal recessive type, and are currently symptom-free. Other than that, Deborah doesn’t have a family history of Alport Syndrome. Her consultants explained to her that she didn’t have to worry about having children either because even if they inherited the Alport gene, they would only be carriers.

Deborah feels that being open and honest about her condition has been very important for her, especially at work. She feels that her employers are supportive and understanding with her.

Since autosomal recessive Alport Syndrome is relatively rare, Deborah would like to see more information on it. She would be particularly interested in hearing other people’s experiences. On the other hand, she feels that meeting people with Alport Syndrome in person would make her worry about her prognosis.

Deborah enjoys travelling. On long trips (i.e. a month), she carries with her a letter written by her doctor explaining why she is travelling with medication. She also likes going for walks with her fiancé, visiting different pubs, catching up with friends – she carries on and doesn’t let Alport Syndrome affect her.

Deborah went to the doctors with stomach pains and they noticed she had blood and protein in her urine.

I was just wondering whether you could maybe tell me your story, from the beginning, of discovering you have Alport Syndrome?

Yeah. It, it was actually by chance. I think I was about 12 years old at the time, and I was having really bad pains in my stomach. And so each time I was going to the doctors, they were making me do urine tests.

And they were noticing that there was a lot of blood and protein, and they referred me to [name] hospital. And again, to have more urine tests, and the same thing kept happening. And they noticed it was a regular thing. It wasn't - they didn't want to… in case it was to do with like periods or something like that. But it was every single time. And so I got then transferred to [name] hospital for like just day appointments. And whilst I was there, they did a biopsy on me, shortly before my - mmm, I think was it, around when I was about 13. And that biopsy revealed that I had Alports.

Although Deborah didn’t want to attend appointments in her late teens she realised they were important.

I don't remember being told much about it, other than I just had to go for check-ups to have my blood pressure and my kidney function checked on like at least a yearly basis.

And how did you feel at the time, hearing that?

When I got into my older teens I really didn't want to do that any more, I was fed up of it. And I suppose because I didn't really know any information about it, I wanted to stop. And I think I managed to postpone one appointment but then [laughing] still continued going. But I think then as I got older again, I just realised - you know - best to go get it checked. 

When you said when you got to your older teens, why was that then? Was that just because-

I think because I'd gone off to university. So like, and didn't really want that hanging over me, I just wanted to like think everything was fine. 

Yeah.

Yeah. But then one of my consultants once said to me "Don't ever let it affect the way you live your life." So I haven't, now [laughing]. Yeah.

Deborah feels she carries on living life normally despite having Alport Syndrome.

This may sound silly. I did actually ask the doctor, "Am I okay to drink alcohol with this, and taking my medication?" And they were like "Yes." So I do carry on socialising completely normally, like with all my friends. No one would ever look at me, I think, and go "Ooh, she might have some rare condition." But then again, you never know what anyone sort of like has. As long as you're going out there with a positive outlook. But yeah, I don't let it affect me. I went off travelling when I was younger. That was before I was on the medication [laughing]. I had a really good time there. The only difference since having, being on the medication is that when I then did like a month's travelling, is that I got a letter from my doctor to explain why I was carrying so many drugs on me [laughing]. In case I got stopped at border control or something.

Yes. Yeah.

But yeah, I don't let it affect me. I'm not going to sit at home and worry about, I'll carry on living life anyway.

Deborah’s previous boyfriend rejected her because of Alport Syndrome, but now her fiancé is fine about it.

Has it affected sort of relationships, and things like that? You mentioned -

Yeah. Just, it affected one relationship in the past. He basically made a comment - because he read up on the X-chromosome one, and said he didn't want to be with someone who could pass on something to a future son, who would then have kidney failure. And then I realised, you know, he's not a nice person really [laughing]. And when I started dating my fiancé, like and realised that I quite liked him, I was open and honest, told him about, and he was perfectly fine. And when I had my DNA tests, they've said to me in the past - when I meet someone, if I want them to have a DNA test as well, to see, in case they would be a carrier, I'd be more than welcome to have that. But, yeah. So I've mentioned that to him, but I'm not really too concerned about him having, having a DNA test, because I think it's so rare. And also I know with my own life, it doesn't really affect me - I have a normal life still. I don't think I have to sort of like worry about that [laugh].

Deborah would like more information about people with autosomal recessive Alport Syndrome and to find out what is happening to them.

And what message would you give to sort of healthcare professionals, if you wanted to give them a bit of advice or anything, or?

[Laugh] stop sending information about X chromosome [laughing] to everybody. I know it's the - almost like the default, because it's the most common version. But, unless everybody has the DNA test, I suppose they'll just automatically assume it is the X chromosome. And I realise that it's expensive to do DNA tests, but maybe like, yeah. Maybe a few more people need to have them, and then they can distinguish who has what type.

I've never read anything about someone with the autosomal recessive Alports. So I kind of think well you don't really know what's gonna happen until I get to that point in my life. I remember at one point being told that people with - I think when I was younger and they presumed it was the X chromosome, is that - you know - boys would have needed a transplant by the age of 30, but whether since then they've found out more research that that's not necessarily trued. Yeah. But, been and gone 30 myself and I know I'm not a boy, but [laughing]. But I've not had any, any - yeah - any like symptoms since. I still feel exactly the same as I was probably when I was younger and they stumbled across it, so.

So it'd be interesting to see other people who have autosomal recessive, and see what's happening with them.