First signs and symptoms of Alport Syndrome
As Alport Syndrome is usually hereditary, some people had family members with Alport Syndrome and were diagnosed at an early age without necessarily having any symptoms (see also: Getting a diagnosis of Alport Syndrome and What is Alport Syndrome?). Both Patrick and Kevin said they had Alport Syndrome for as long as they can remember. Kevin’s older brother was diagnosed with Alport Syndrome before him and Paul was diagnosed at birth as his brother had been diagnosed aged 4. Some people were diagnosed with nephritis (inflammation of the kidneys) or benign haematuria (blood in the urine) in their families or were aware of a family history of kidney disease or inflammation of the kidneys, even though this might not have been diagnosed as Alport Syndrome. Some people like Karen suspected they had Alport Syndrome in the family but this was not confirmed until genetic testing later on. Some people like Lucy were the first in their family to be diagnosed with Alport Syndrome (sometimes called ‘spontaneous’ Alport Syndrome). This sometimes led to other family members being tested and diagnosed.
Although experiences varied, nearly all the people we talked to said one of the first signs or symptoms was blood and/or protein in their urine. Sometimes this was picked up whilst visiting the GP for something routine or unrelated. Lucy went to her GP for reflux when she was little and it was then that protein was discovered in her urine. Sarah was having a check-up for being underweight when doctors discovered blood and protein in her urine. Jayne and her sister had blood and protein in their urine but had no other symptoms and were given a “blanket diagnosis of nephritis”. It wasn’t until Jayne’s son had hearing problems that she found out she had Alport Syndrome. Some of the women we spoke to said that problems were only picked up in pregnancy: For some, the presence of blood in the urine was very visible: People also recalled that they or their children had nappy “staining” (blood in the urine or haematuria) as a baby which then led to further checks. Urinary and kidney infections were also talked about. Many people recall frequent blood tests as a child and going to the hospital for regular check-ups (see also Getting a diagnosis of Alport Syndrome). Other symptoms people described experiencing before diagnosis included a “metallic taste in the mouth”, “leg cramps”, “not sleeping properly”, “nausea and vomiting”, “itchy skin”, “not much energy” and “tiredness”. It is unclear if these were signs or symptoms caused by Alport Syndrome or whether these were unrelated. For a few people, a definite diagnosis came about when they became ill with something else. Some people talked about experiencing kidney function “dropping” or getting “worse” or “deteriorating” over the years. Sometimes this was when they already had a diagnosis of Alport Syndrome. This was often after blood and protein had been discovered in their urine. Not everyone had a diagnosis of Alport Syndrome at this time and so sometimes renal failure was a sign which led to a diagnosis: Hearing loss was experienced by both the men and women we talked to. The loss of hearing and experiencing deafness was frequently talked about. This was sometimes the very first sign or symptom which led to a diagnosis of Alport Syndrome (see also: Alport Syndrome - dealing with hearing loss).For Jayne, it was her son’s hearing loss which led to a definite diagnosis of Alport Syndrome in her family. Sometimes hearing loss happened later on after a diagnosis of Alport Syndrome. However, several people, like Steve and Richard, haven’t experienced any hearing loss.
- Age at interview:
- Age at diagnosis:
- Richard X works full-time as a procurement manager. He is married with two children, a daughter the age of 14, and a son aged 11. Ethnicity: White British.
Okay, yeah so first of all it was probably my parents that found out quite early on that the first signs I showed was when I was at school and apparently the teacher called my parents in to speak to them because I wasn’t paying attention in class. and but they weren’t really sure why that was but they noticed I’d been lip reading so that was the first discovery that actually there was something wrong with my hearing because I was just naturally lip reading.
I’m not sure exactly how aware people were of Alports at the time. I think it was quite early on, I’m 39 now and that was probably when I was about six, so a good 33 years ago so I think it was probably, it was probably early stages in terms of you know, the knowledge about the actual Alports Syndrome.
But I think what happened in between that time and then they sort of put the pieces together as it were so I had, when I was eight, eight I think I had a biopsy on my kidney but I think actually there was something before that kidney related which was I was passing urine in my, sorry passing blood in my urine and that was what they linked the two, the hearing problems and also that symptom and linked it to Alports.
So I didn’t find out till, I knew I had kidney problems cos I was always in and out of hospital having blood tests from when I was a baby and I didn’t find out until I was about 16 that what it was and the extent of it and that eventually I’d have to have a transplant and go on dialysis first obviously.
- Age at interview:
- Age at diagnosis:
- Mariam had kidney failure at the age of 10. She had a transplant when she was 12 years old. She is currently studying for a Higher National Certificate at a local college. Ethnicity: Pakistani.
Well I remember when I was playing with my cousins, and also with my sisters. We usually play like games outdoor, like chase or just anything outside. And I remember there was a time where I had like trouble hearing what they were saying. And it really like freaked me out, because like before, I remember my hearing was perfectly fine and I could hear everything. And so when we were playing, when I had my Alports - well, I kind of - well, it became a bit difficult to play.
Well I remember in primary school that the teacher was telling everyone about me having hearing aids [laugh].
Yeah. So it was a bit embarrassing. But, oh [laugh]. But yeah, I just remember feeling a bit embarrassed about my hearing. But all the kids were really nice about it, so. Wasn't that bad.
Well afterwards, I remember that I had a lot of trouble with like conversations, and hearing what other people were saying. Like mostly in classes when everyone's talking over each other, I'm not really sure what they're saying. Sometimes I ask them can they say it again, but I remember they would get really annoyed with repeating themself.
I remember I had to have like an operation on my ear. Yeah. I think they were trying to put - I can't remember what they're called. Just like these things in my ear, to help me hear better.
But it wasn't working. And I just kept getting worse with my hearing.
And, I remember it took them a long time to figure out what was wrong with me. And then I think maybe when I was 10 or 11, they found out I had kidney failure.
Yeah. So it took them a long time to figure out what was wrong with me. And they were saying that they think the kidney was because of my hearing. And that's when I got transferred to like renal clinic, but for children.
So I remember we'd visit them like almost every week or two weeks. And I also remembered that I was put in a, up on a list for a transplant. So, but at the moment I had to be on dialysis, and these machines, to clean out my kidney and the bloods, and. I can't remember how many times I had to go, but I remember in [hospital 1] they didn't have one, so I had to go to [hospital 2].