Alport Syndrome

Check-ups, tests and appointments for Alport Syndrome

People said that before getting a diagnosis of Alport Syndrome signs and symptoms such as blood or protein in their urine, often led to a referral for further testing and checks, such as a kidney biopsy or ultrasound and genetic testing. 

For those already diagnosed, the frequency of routine appointments was often annually or six-monthly. These usually happened at a hospital, occasionally at a specific ‘Alport clinic’ in an adult or children’s nephrology department. For children and teens, paediatric appointments were often every 3 or 6 months. However, people said the frequency changed over time, with hospital appointments becoming more or less regular depending on their results and health. Jayne mentioned getting discharged as she had no symptoms and was told to get in touch only if she had any problems. Lucy said that despite being discharged with no symptoms, she asked to maintain her annual appointments. Blood tests and a urine or ‘dipstick test’ were the most frequent procedures at check-ups or annual reviews. People also mentioned having their blood pressure, weight and height checked. They did not always get told the results but assumed everything was fine if they did not hear from the consultant.
People mentioned that their care sometimes changed when moving hospitals or clinics (for example from paediatric to adult nephrology). For Michelle, her daughter had moved to adult nephrology where she felt there was a lack of knowledge on Alport Syndrome, so she maintained links with her daughter’s old paediatric department where her son received care. Some people with other family members with Alport Syndrome compared their care to their relatives. For Kevin this was helpful when he had missed a few annual appointments and his brother’s health deteriorated – prompting him to re-attend his clinic.
People described their appointments and feelings about them in different ways. They were described as “pretty routine”, a “bit of an inconvenience”, “slightly annoying” to “normality”, “no big deal” and a “day out”. Lucy said that she went to her appointments with questions she wanted to ask her consultant. Often appointments required time off (usually a day) from work or school. Some younger people enjoyed the opportunity for a shopping trip while others found missing school difficult. Michelle said she got her son’s appointment only two weeks in advance and this made it very difficult getting time off school, so she often had to try and get appointments in the holidays. Several people said that although their appointments appeared to be ‘pointless’ as their results were very stable or they had few symptoms, they acknowledged the importance of still attending. Katie and Sarah felt they were being taken “seriously” and said that although Alport Syndrome didn’t affect them right now, it could in the future. At the same time, some people dropped off attending appointments for a period of time. For Richard Y, “life took over”.
For those who experienced kidney function loss, their check-up test results started to indicate a slow decline or “tapering off”. Kevin said that it was when his check-ups became more regular, dialysis was mentioned for the first time.
Aside from appointments which looked at people’s blood and urine, hearing and eye tests were also talked about. Lucy said that her children went to audiologists, and an eye clinic as well as paediatrics. Diane and Neil said that they expected their 4 year old son to start have hearing checks in the next few years. Some parents said they would monitor their children’s hearing in the future. Jayne said that her son wears hearing aids and also gets eye checks because he has eye “flecks” (see also 'Alport Syndrome - dealing with hearing loss' and 'Alport Syndrome and eyes').

Some people spoke about their own or their children’s anxieties and strong dislike of blood tests. For some, this became an issue at annual check-ups. Amanda’s son has a needle phobia and so check-ups every six months felt “horrendous” because she had to hold him “to get his bloods taken”. Some people described needle phobias and anxiety when starting dialysis and getting access points (like a fistula- a special blood vessel surgically created to connect an artery to a vein for haemodialysis).

For those who were post-transplant, hospital appointments were much more frequent, at least initially. People stayed in hospital for a period of time immediately after transplant, then if recovery was good, check-ups were weekly and then less frequently. Richard X and Alison said that they now have check-ups every 3-4 months after their transplant. Alison who had her transplant the year before said she was also encouraged to ‘self-check’ her new kidney. She said at night she often checked the feel of it, which she had been taught to do by the transplant unit.

Several people said that they themselves monitored or checked their own results. Debra said she pays more attention to her results as she gets older. Angela said that she was less likely to cancel appointments as she felt “less immortal” now as she gets older. People also spoke about looking up their results online using ‘Patient View’ (see Resources) or finding information about Alport Syndrome online.

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