Being a female ‘carrier’ of Alport Syndrome
Karen developed stage 4 renal failure at the age of 24 and her kidneys failed when she was 39. Angela was also told by doctors that she was a 'carrier' and that it didn’t usually affect women despite getting kidney failure by her late 20s. Neil felt his partner Diane was unusual developing symptoms so early on. Mariam had kidney failure age 10 and a transplant at the age of 12. There were mixed feelings about developing symptoms as a female ‘carrier’. For Alison, it came “out of the blue” and was a shock, whilst for Diane it was a slow decline and only after her transplant she realised how ill she had been. For Mariam, the whole experience of going through a transplant at such an early age brought back many traumatic emotions for her. Donna felt angry that her GP had not informed her that her kidney function had declined over the years.
Lucy, who has few symptoms, was told by one doctor that as she was a ‘carrier’ and there was nothing to worry about. Later on when she changed hospitals, another doctor mentioned kidney failure in the future which worried her alot. Lucy’s mum was as shocked as she was after not realising that her kidneys could fail. Her parents genuinely thought it was not an issue as she grew up. Debra, said she is lucky because she is generally a “well person”. She was told she could be discharged because she had few symptoms, but she didn’t feel happy about this and keeps going for her annual check-ups. Emma has few symptoms with blood and protein in her urine, but has been told that she may have a chance of developing kidney problems when she is older. Some women that we talked to experienced hearing loss and sometimes this was one of the first symptoms they experienced. Diane remembers getting hearing aids when she was 17 years old. Karen lost about 50% of her hearing by the age of 25. Angela now has slight hearing loss whilst her sister has much worse hearing loss and wears hearing aids. Cynthia who has had three transplants lost her hearing when she was at primary school. Very few women we spoke to mentioned experiencing eye issues. Debra, however, said she had an eye condition called keratoconus which is when the cornea (the very front of the eye) becomes cone-like shape. Her eye doctor at the eye hospital believes this might be linked to Alport Syndrome (see Alport Syndrome and eyes).
Women spoke about ‘benchmarking’ their symptoms against other family members. Several men we spoke to also mentioned female relatives who were ‘carriers’. Alan said that Alport Syndrome hadn’t affected the women in his family. Steve said that although he was aware women could suffer symptoms he said that there were five female ‘carriers’ in his family with no real problems. Katie and Sarah said they looked to their mum who “hasn't got anything too bad” and believed they should be fine. Deborah who has autosomal recessive Alport Syndrome said she doesn’t have any symptoms. Michael said that some of the carriers in his family were not affected by Alport Syndrome although his mum had a transplant when he was 5 years old. Those women who had experienced kidney failure and hearing loss, said they hoped that their daughters would not have the same and in this way, be a ‘typical carrier’. Alison said that in the future, if she had a daughter she thinks she will be fine. Women we talked to discussed their feelings about medical treatment as well as medical changes and their feelings about the future. Karen said that there was more awareness of Alport Syndrome by the medical community generally, although she felt strongly that there was a lack of awareness on the specific details of female carriers. She felt that consultants were not experts in Alport Syndrome and that there should be a change to the label of ‘carrier’. Similarly, Alison said at a recent information day that she would have liked to see more information on the “female side of Alports” and more information on family planning. Debra said that although she has never found a GP who was particularly interested in her Alport Syndrome and feels frustrated by this, she knows “it's a rare condition, so you can't expect a GP to have huge amounts of knowledge” on it. Katie and Sarah said the geneticist, who explained the inheritance of Alport Syndrome to them, had said they could come back if deciding to get pregnant. Katie was only 14 at the time and felt this wasn’t particularly relevant to her. Paul, Christine and Emma felt that they have received a lot of support regarding reproductive choices.