Alport Syndrome

The invisibility of Alport Syndrome: few or no visible symptoms

Some of the people we interviewed said that at certain times in their life they had experienced very few or no visible symptoms either before or after getting a diagnosis of Alport Syndrome. Often people spoke about feeling that their Alport Syndrome was invisible to others. Some people described their childhood or teenage years as symptom free with “nothing”, “completely normal” and feeling “healthy”. For some, this continued into their early adult life: Karen said she didn’t have any symptoms until she was 24 apart from urine infections as a child. Even the blood in her urine was not visible to her. Jayne also said she wouldn’t have known she had Alport Syndrome “if it wasn’t for a dip test” whilst Richard Y said he felt as “fit as a fiddle” in his 20s despite knowing he had Alport Syndrome. 

‘Invisibility’
Sisters Katie and Sarah described having no outward difference which on the one hand meant their Alport Syndrome was not visible to others and having blood in their urine was “normal” for them, yet on the other hand they felt it was difficult to explain to other people because they didn’t “really understand what it means”:
People also spoke about not wanting to tell others about their Alport Syndrome. Debra said “I think people get quite uncomfortable when you start talking about illnesses”. Dee felt that she didn’t want Alport Syndrome to define her (see also People’s attitude to Alport Syndrome and their outlook for the future and Alport Syndrome - messages to others)
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Certainly, for many people, they wanted to normalise their everyday lives despite having Alport Syndrome. Many spoke about carrying on as ‘normal’ with work, relationships and social lives (see Alport Syndrome and work and Alport Syndrome - family life, hobbies and interests). Often parents who had Alport Syndrome themselves described feeling more concerned about their children’s health than their own.
Some people spoke about Alport Syndrome not really impacting their life and feeling well, even if they had annual check-ups and blood or protein in their urine. Lucy described going to hospital once a year to get her “leaking kidneys” checked but thought this was normal. Jayne said she didn’t take any medication nor had she made any dietary changes. Deborah says she feels “perfectly normal, perfectly healthy”. Lucy feels her Alport Syndrome doesn’t affect her daily life. Michael takes blood pressure medication but describes this more as an inconvenience trying to remember to take a pill each day.
Steve spoke about having no symptoms up until his 30s, when he developed renal failure. He considers himself lucky that he has experienced no hearing loss. People said that even when they developed symptoms, they assumed that this was their normality. When Diane’s hearing and kidney function deteriorated she felt that it was a slow decline and that, “whatever I went through, I just assumed was quite normal”.
Whilst many people experienced periods of time without any symptoms, some people had symptoms from an early age (see First signs and symptoms of Alport Syndrome and Alport Syndrome - dealing with hearing loss).

‘Benchmarking’
Those who spoke about having few symptoms currently, sometimes worried about how their health might deteriorate in the future. Frequently people looked to other family members who had Alport Syndrome as a ‘benchmark’ for their own health. This sometimes provided reassurance. Michael said that Alport Syndrome tended to take a while to affect the men in his family.
Alison and Lucy had no family history of Alport Syndrome (sometimes called a ‘spontaneous’ mutation; see What is Alport Syndrome?). Alison describes having no previous indication or knowledge of what to expect. She recalls having no symptoms and feeling healthy in her childhood and teens – she sees herself as “one of the unlucky ones to just pick it up”. 

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