Michael Y
Michael was diagnosed with X-linked Alport syndrome very recently at age 24. He has few symptoms and has recently started blood pressure medication. He feels overall that Alport syndrome is more of an “inconvenience” and doesn’t let it affect his enjoyment of life. He is looking forward to travelling and living abroad in the future.
Michael was diagnosed very recently with X-linked Alport syndrome. His mum who has Alport syndrome had been telling him to go to the doctors for some years but Michael put it off until he was 24. His twin sister and brother had both been tested and did not have the Alport gene and were “fine”. He also felt that he had no symptoms or that they were at most “invisible”. He went to his GP for a urine test which he remembers changed colour. He says he was “kind of surprised” but also had several members of the family affected by Alport syndrome and therefore had already had quite a bit of exposure to it.
Michael was referred to his local hospital, where he now has checks every 3–6 months. He takes blood pressure medication that has steadily been increased over the last year. He says that he has lost a bit of weight since starting the medication but doesn’t know if that is related to the medication. He looks up his results on Patient View which he finds useful. On this, he can see that the protein in his urine has decreased.
He says his kidney function is “still really good” and so he feels Alport syndrome is more of an “inconvenience” right now. He says it doesn’t affect him day to day except for remembering to take his medication. He says that he sometimes forgets to take his medication a few times every month. He has tried to cut out salt from his diet as a precaution. He sometimes finds dietary changes a bit difficult as a student. The thing he worries most about is hearing loss as he likes to go to music gigs and concerts. He thinks this would be more disabling than a decline in his kidney function.
When Michael was 5 years old, his mum had a kidney transplant. Several other members of his family have Alport syndrome and a few have had multiple kidney transplants. He says he looks to other male family members as a “benchmark” for what will happen to him. He feels lucky that Alport syndrome seems to affect his family “late in our lives”.
Michael says he would like to live abroad for a period of time in the future, perhaps in the USA although he is concerned about health insurance and healthcare as he “is used to the NHS” and “great free healthcare”. Overall, he feels that there is a lot of scientific progress and he supports research because “exposure and attention” of Alport syndrome “helps get funding”. He says he might take part in future research trials too.
Michael likes to read a lot and is into music and films. He is a particular fan of Poirot and spy thrillers from the 80s. He has a number of travel plans this year such as going to Sweden, Canada and New York. Last year he went Inter-railing around Europe with his partner. He feels his Alport syndrome has acted as a “catalyst” for doing more things now because he says that being on dialysis would make travelling a lot harder.