Alport Syndrome

Alport Syndrome and reproductive choices

As Alport Syndrome is usually inherited; many people talked about children, their reproductive choices and thoughts about inheriting or passing on the Alport gene. Talking about whether a child may inherit Alport Syndrome often raised a number of emotions. People spoke about the real (and often painful) difficulty in making reproductive choices and the impact of their personal decisions. Genetic testing and counselling were taken up by some people before having children. Some younger people we spoke to had been for genetic counselling. Sarah had genetic counselling when she was 14 but felt “it was quite a lot to think about” back then. Katie similarly isn’t thinking about having a family now. Emma went for genetic counselling in her teens but now, age 22, has decided to go back to look at her options. Some people decided not to have children, sometimes this was because of Alport Syndrome but sometimes for other reasons.
People spoke about the ‘elimination’ of the Alport gene and their feelings about this. Michael X said that the choice of genetic selection was a very “complicated and difficult area”. He felt it was ultimately a personal choice made by the people involved. Lucy said there were two sides to the debate; “not creating a child who's going to become ill; but then there's the, the opposing view which would be the sort of playing God”.
Many people considered prenatal diagnosis (PND) and pre-implantation genetic diagnosis (PGD) through IVF. If the mutation causing Alport Syndrome is known in a family then prenatal diagnosis can be offered by Genetic services at 11-12 weeks of pregnancy, or couples may elect to have pre-implantation genetic diagnosis (PGD) which involves biopsying and testing embryos that have been obtained by IVF (in vitro fertilisation). The people we interviewed often mentioned sex selection. However, Professor Frances Flinter says that sex selection is often not needed, because genetic services can offer more targeted testing during PGD which looks for the precise mutation involved. Male embryos are only excluded if the familial X-linked mutation has been inherited.
Many people opted to have children naturally without any intervention. The sex of a child, was often discussed as people said they believed girls would have less severe symptoms and be a ‘carrier’. Karen said she thought PGD was going to be a long process for her as the hospital required a blood sample from a male relative. Jayne was unaware she had Alport Syndrome and gave “no second thought” to having children. Michelle said that at the time of having children she didn’t know she had Alport Syndrome and feels it wouldn’t have stopped her. Lucy and her husband decided to leave it to fate whilst Neil and Diane “went in knowing that there was a fifty-fifty chance”. Richard Y, Paul and Christine and Robin all had genetic counselling before having children naturally.
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Diane and Richard Y had transplants before deciding to have children. Angela said her sister was told to have children at a young age while her kidney function was still good although Angela had a kidney transplant before having children and waited three years before having her second child so that her kidneys could recover. Deborah says that in the future when she wants to get pregnant, she will have to change her blood pressure medication. Diane and Frances similarly said they had to change their medication before trying to conceive.
Debra said she felt very lucky as her son did not have Alport Syndrome. She says that if her and her husband decide to have another child they will not do it naturally again as she worries that their “luck will run out”. Despite this, she feels that PGD through IVF will be an invasive process with no guarantees. Robin who has X-linked Alport Syndrome had two sons naturally and as there can be no male to male transmission, described this as a “good feeling” because “the issue ends with me”. Amanda felt that she wouldn’t want to risk having another child with Alport Syndrome. Deborah, who has autosomal recessive Alport Syndrome, believed that any children she has in the future would not likely be seriously affected.

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