Jayne

Jayne only found out that she had X-linked Alport Syndrome when her eldest son started developing symptoms of hearing loss. She remains symptoms-free, but her main concern is her sons hearing.

When Jayne was around 9 years old, she was diagnosed with nephritis after the doctors found blood in her urine. Apart from annual hospital check-ups, the diagnosis didn’t have an impact on her day-day life. She didn’t developed any symptoms, nor did she have to take medication. Therefore, she didn’t feel the need to ask for her consultant’s advice when she decided to have children. When having her first son, she had high levels of protein and blood in her urine and her pregnancy was induced. However, it wasn’t until her first son’s hearing started to decline that she suspected there might be a link to her nephritis. Jayne pieced some of this information together and rang her doctors to ask about this. This is how she found out that both her and her sons had X-linked Alport Syndrome. Jayne thinks she would have been more cautious with family planning, had she known that she had Alport Syndrome. Yet, she feels that in some ways it was better not to know because she would have had doubts about having children.

At the moment, Jayne’s major concern is her children’s hearing loss. Although her youngest son doesn’t need hearing aids yet, Jayne feels that hearing loss affected her eldest son’s school performance. The hospital didn’t give her any practical advice on hearing aids or information on support groups, and she found that her son’s school was not particularly deaf-aware. For this reason, she joined a local charity supporting deaf children, which provided her son with a teacher of the deaf. This person set Jayne’s son up with a radio aid, so that he could hear the teachers better during class. Jayne is also concerned about her younger son’s kidneys, which the doctors are monitoring closely at the moment.

Jayne and her husband explained what Alport Syndrome was to their children right from the beginning. Jayne feels that their children accepted their condition. Hospital routines and the prospect of kidney transplantation have become perfectly normal in their family.

Jayne feels that the diagnosis has changed her perspective on the future, and she has learnt to appreciate things that are happening now more, rather than look too far in the future. She went to an Alport UK information day, where she saw how people who have been living with Alport Syndrome for decades were just living their life normally. This made her realise that maybe it isn’t that bad after all.

Jayne was unaware she had Alport Syndrome throughout her pregnancy.

Age at interview 40

Gender Female

Jayne said the general information she found online frightened her but that the consultant provided her with advice specifically about her son’s condition which was more reassuring.

Age at interview 40

Gender Female

Jayne says there is support out there for hearing loss but that sometimes you have to fight for it.

Age at interview 40

Gender Female

Jayne would have liked doctors to put two and two together and come up with her diagnosis. Instead she suggested that she might have Alport Syndrome.

Age at interview 40

Gender Female

Jayne talks about her worries for her sons who have hearing loss.

Age at interview 40

Gender Female

Jayne got help from the Deaf Children’s Society to get her son a radio aid at school.

Age at interview 40

Gender Female

Jayne’s sons have flecks’ but no problems with their vision and the consultant recommends they have annual eye tests.

Age at interview 40

Gender Female

Jayne says in the beginning you think everything’s bad but then you get used to it.

Age at interview 40

Gender Female

Jayne says her and her husband explained things in simple terms to their children from the beginning.

Age at interview 40

Gender Female

Jayne says she wants her children to enjoy life to the full now because she doesn’t know what the future holds for them.

Age at interview 40

Gender Female

Jayne explains how her diagnosis was made through putting two and two together

Age at interview 40

Gender Female

Jayne talks about feeling like she was taking up an appointment when she doesn’t have any symptoms.

Age at interview 40

Gender Female

Jayne says that after the genetic test results for her family, they try to live in the here and now.

Age at interview 40

Gender Female