Alport Syndrome

Experiences of genetic testing for Alport Syndrome

Many people we spoke to said that they had gone for genetic testing and genetic ‘counselling’. Testing and genetic counselling were talked about interchangeably. Genetic tests included giving a blood sample, as well as a discussion of family history and previous test results (e.g. kidney biopsy results). Genetic counselling usually was a discussion with a geneticist or genetic counsellor about the inheritance of Alport Syndrome – the likelihood of passing the Alport gene onto children – and also, for some people, finding out where the Alport gene came from. Most people were referred to genetic services by their kidney doctor or consultant. People said that going for genetic testing and considering the genetics of having children was emotional and sometimes very difficult. Neil and Diane, and Lucy said that they were pleased to find out the facts at their genetic counselling appointment. Sarah, Katie and Karen said that when they went a family tree was drawn and explained.
For many people, talking about family planning decisions at genetic appointments brought up a range of emotions and moral dilemmas (see Alport Syndrome and reproductive choices). Michael X felt that the area of genetic research gave a lot of hope to people making choices about children although he also felt it was a very difficult and complicated area when medicine “meddles” with conception. Richard X felt strongly that he couldn’t understand arguments about “designer babies”. Others said they found such decisions tough and difficult and it was a very personal choice or decision to make. 

Genetic testing and counselling happened at different times for different people. Michael’s diagnosis spurred his siblings to be tested and finding out they were “in the clear”. For Dee, similarly, her son’s side of the family were given the all clear. For Karen, genetic testing confirmed her suspicions that Alport Syndrome was in her family. For Jayne and Steve, genetic testing was offered after they both had children. Jayne’s consultant thought she had Alport Syndrome, and genetic testing confirmed this. Dee had genetic testing after her diagnosis to find out where the Alport gene had come from. Paul and his brother, were part of the very first genetic studies of Alport Syndrome families in the UK. Alan had his genetic testing in the 1980s which gave him (and his family) a diagnosis of Alport Syndrome.
Genetic results were often sent by letter. People said this frequently took 3-4 weeks to receive from the time of testing. However, some were told it would take longer; Michelle was told she might not know anything until the following year as the samples needed to be “cultured”. Alison felt it took forever to get her results back. Some people like Michael Y received their results by phone call. Jayne received a phone call at work from her consultant who was “quite abrupt” on the phone when telling her the diagnosis. Frances would have preferred a meeting face to face rather than the letter she got confirming her son’s diagnosis. For many, the results of genetic testing brought up different emotions and feelings. For some people the results were confirmation of what they already knew and, as Karen said, “not a big thing”. Jayne she said she cried and was in shock.
People spoke about learning more about their family history and finding out where the Alport gene came from. Richard X said that Alport Syndrome was traced back to his mum who was probably the first one in the family to have a spontaneous mutation. Dee went to her genetic appointment with her whole family. Michelle and several family members gave samples including her grandmother. People recalled distant family members and how they might have had Alport Syndrome but perhaps there wasn’t the medical knowledge at the time (see Getting a diagnosis of Alport Syndrome). Steve said that his grandfather died age 27 of “renal failure” and had a diagnosis of “Bright’s disease” which he says would have been Alport Syndrome. Similarly, Alan said that his grandmother caught scarlet fever and he wondered if this was where his Alport Syndrome stemmed from. Dee, who found out in her late 40s that she had autosomal dominant Alport Syndrome, said her dad had gone deaf and passed away in his early 60s and she wondered if he had had an underlying kidney issue. 

After having genetic testing, people talked about how they dealt with the results. Michael Y said his surprise was short-lived and there was a “levelling out”. Many people talked about resuming as normal a life as possible. Amanda says that she tries to take one day at a time (see People’s attitude to Alport Syndrome and their outlook for the future). Richard X said that he felt there were worse conditions than Alport Syndrome to live with. Michael Y says that in his family Alport Syndrome is a “family legacy”. For Angela, who has autosomal recessive Alport Syndrome, going back to get more genetic tests now for her children is a consideration. Debra also thought about getting her son (who doesn’t have Alport Syndrome) re-tested.

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