Frances

Frances was diagnosed with Alport Syndrome when she was 16 years old. She doesn’t feel like she has many symptoms. It was only when she was pregnant that she developed symptoms. She is most concerned about her son who has Alport Syndrome.

When Frances was 8 years old, her dad had sudden kidney failure and was diagnosed with Alport Syndrome. This led to many family members getting tested in the years that followed. Frances was told that she just had the gene but that she didn’t actually have Alport Syndrome. However, when she was 16 her doctor noticed something wrong with her blood test. She had a biopsy which confirmed she did have Alport Syndrome. She remembers telling her dad the news which she says was a ton of bricks on him. He felt completely devastated to have passed on Alport Syndrome to Frances. Her dad had a kidney transplant which she remembers very well. After the transplant family life changed and everything seemed to go back to kind of the way it was when I was wee again.

Frances is on six different medication including medication for high blood pressure and antidepressants. She started taking antidepressants when she was first diagnosed with Alport Syndrome as a teenager as she found it really hard to cope. She took them again when herson was diagnosed and says, that’s the horrible thing about hereditary illnesses, that it’s just a never-ending circle. She hopes for a cure someday for Alport Syndrome, but at the same time believes that everybody has different things, and you just get the cards you’re dealt with. She finds the best support has been connecting with people who have actually gone through the same kind of things.

It was only during pregnancy that Frances developed several symptoms. She had a lot more protein and blood in her urine and her blood pressure went up. With her son’s birth she had a caesarean section four weeks before the due date. She remembers she felt rubbish during this pregnancy. When she had her son, she had a strong feeling he would have Alport Syndrome and was expecting it. She recalls getting the letter in the post which confirmed her son had Alport Syndrome and feeling that this was a harsh way to find out. She would have preferred someone to tell her in person.

Frances son has yearly checks. Frances feels that the care he receives is brilliant and that the doctors are very child-friendly and approachable. She says that the doctor they see, talks to you like a human being and genuinely cares. She remembers when she was little how different this was, with hospitals feeling dark and clinical. She recalls having no idea what the doctors told her when she was little because they didn’t explain things in layman’s terms. Although she was devastated that her son was diagnosed with Alport Syndrome, she feels her son’s future is a lot brighter than her own dads because of all the medical advances.

Frances has yearly check-ups herself and feels that she doesn’t need to know too much detail as she feels fine. She feels this is a motherly thing to be more interested in what is happening with her son than herself. Frances does, however, remembers wetting the bed when she was little and this is something that has affected many of her family with Alport Syndrome. She remembers the stigma and embarrassment associated with bed wetting and says I never went on school trips, I never went on the overnight things with school. She says she felt terrible and couldn’t understand why it was happening to her despite going to her GP several times. It affected her until she was about 16 years old when suddenly, it just stopped. More recently she went on a weekend away with the Scottish charity Kidney Kids and found other families had the same experience. She found this very reassuring.
Frances feels that her family just gets on with life. Rather than worry about the future, she feels that nothing stops us and her son does football, swimming and all the sports. She says that you wouldn’t notice any difference between her son and his other friends, just because he’s got a genetic condition doesn’t mean that he’s different. She is also passionate about doing fundraising for kidney charities and likes to help others in a similar situation. Her message to others with Alport Syndrome is that it is not the end of the world and that the outlook is not bleak, it’s looking good.

Frances says she’s been advised to stick to a couple of alcoholic drinks if she goes out. She thinks that spirits are less harmful for her than beer and cider.

Age at interview 35

Gender Female

Age at diagnosis 16

When she was younger Frances found it hard to follow dietary advice because she felt nothing was wrong with her.

Age at interview 35

Gender Female

Age at diagnosis 16

Frances feels the outlook for people with Alport Syndrome is good.

Age at interview 35

Gender Female

Age at diagnosis 16

Frances isn’t on social media and would like to find other people with Alport Syndrome in her area.

Age at interview 35

Gender Female

Age at diagnosis 16

Frances remembers her dad being in hospital and how upset he was when he realised she also had Alport Syndrome.

Age at interview 35

Gender Female

Age at diagnosis 16

Frances vividly remembers a brilliant family holiday because her dad could also come too.

Age at interview 35

Gender Female

Age at diagnosis 16

The GP told Frances that her creatinine levels would need to be checked every week during the pregnancy.

Age at interview 35

Gender Female

Age at diagnosis 16

Frances describes her feelings as a teenager and how her dad’s positive attitude helped her.

Age at interview 35

Gender Female

Age at diagnosis 16

When Frances thinks about the future she looks to her aunt who was relatively healthy.

Age at interview 35

Gender Female

Age at diagnosis 16

Frances’ eyesight is fine although she previously worried because there are eyesight problems in the family.

Age at interview 35

Gender Female

Age at diagnosis 16

Frances finds she gets used to explaining Alport Syndrome because many people haven’t heard of it.

Age at interview 35

Gender Female

Age at diagnosis 16

Frances remembers the day she got the letter confirming her son’s diagnosis.

Age at interview 35

Gender Female

Age at diagnosis 16

Frances says everyone copes in different ways and although she worries about her son she is positive about the future.

Age at interview 35

Gender Female

Age at diagnosis 16

Frances felt it was useful seeking out others in the same situation.

Age at interview 35

Gender Female

Age at diagnosis 16