Alport Syndrome

Getting a diagnosis of Alport Syndrome

The path to a definite diagnosis for people with Alport Syndrome can be complex. For some people, their family history and knowledge of other relatives with Alport Syndrome meant that they knew from an early age and were diagnosed quite quickly. Patrick felt he had a fast diagnosis and similarly Paul was diagnosed at birth after his brother was diagnosed before him aged 4. 

Frequently, the onset of signs or symptoms led to further tests and referrals (see First signs and symptoms of Alport Syndrome). People talked about getting referrals to kidney doctors and consultants and having a kidney biopsy. Alport Syndrome was sometimes suspected at these stages but not always confirmed. Some people were diagnosed with kidney problems before getting a diagnosis of Alport Syndrome. For Amanda her kidney biopsies were inconclusive and did not give her a diagnosis, but for Lucy a kidney biopsy at the age of 8 did give her a diagnosis. People spoke about experiencing a collection of symptoms or signs (sometimes experienced by several family members) which were then linked or pieced together. Sometimes this took several years.
For some women, it was only during pregnancy that they developed signs and symptoms like pre-eclampsia (high blood pressure, sometimes with fluid retention and protein in the urine) which were picked up by medical professionals.

People spoke about getting a diagnosis confirmed through genetic testing. For Michelle, it was only when her daughter went to a genetics appointment that autosomal recessive Alport Syndrome was explained to her for the first time. For some, the diagnosis provided some sort of relief and a confirmation of earlier suspicions. Karen said her family had always suspected they had Alport Syndrome in the family, but it was only through genetic testing that this was proven.
Some people had a delayed diagnosis. Karen recalls moving GPs and a letter about kidney disease in the family getting lost. Sometimes people were falsely reassured they wouldn’t experience symptoms. Richard said that at his initial appointment when he was diagnosed, he had been told that he wouldn’t expect to have any problems until he was 50 years old. Steve was told he had passed the “danger area” when he was seventeen.
People also spoke about delaying, skipping or missing appointments themselves. Michael Y said he put off going to the doctors until he was 24 despite his mum being diagnosed years before. He doesn’t know why he waited so long, “probably just laziness to be honest” (see also Check-ups, tests and appointments for Alport Syndrome). 

Several people we interviewed described how their kidney function deteriorated over time. Frequently going into renal failure was described as “a massive shock” and a “scary time”. Sometimes this happened when people knew they had Alport Syndrome, but other times this led to a diagnosis.
Learning about a diagnosis of Alport Syndrome was described as “overwhelming”, “awful”, “a surprise”. For others it was less of a surprise as they suspected it. For Amanda, when she got the letter saying her son had Alport Syndrome, she felt her “whole world had crumbled”.
A few people had very few symptoms that led to a diagnosis of Alport Syndrome. People also found it difficult to recall exact events or had vague memories of the signs and symptoms leading to their diagnosis, particularly if this was when they were very young.

Sometimes people’s experiences were different to what they had been told to expect by healthcare professionals. This was the case for those like Alison and Angela who had been diagnosed and labelled female ‘carriers’.
People frequently mentioned medical changes over time. Angela felt that when she got her diagnosis, medicine was not as advanced as it is today. Neil and Diane said that in the 1980s, test results would take a long time to come back and it was a “long process” whereas now with “modern techniques” they found results came back much quicker.
People said that they felt the treatment of Alport Syndrome was much better today than “years ago”. This often provided hope and a greater confidence in having the best possible care (see People’s attitude to Alport syndrome and outlook for the future). Several people were also hopeful about medical advances and research in the future, such as the use of blood pressure medication to prolong kidney life.

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