Alport Foundation of Australia
 
           ALEX’S STORY

Alex was in his early teens when he first became unwell. He recalls starting to feel generally unwell, nauseated, and falling asleep on the basketball bench when waiting his turn to go onto court. “I thought it was just me, I was tired and not getting enough sleep. I was hungry. I was being sick when I finished football training. I would just go into the footy sheds and guzzle the cordial. I’d go home and say I don’t want any tea, I’m going to bed. I’d get up in the morning and go again. So it was just push push push.”
His hearing loss also started to become a problem. “In the classroom all the tough boys used to sit up the back. So I used to sit up the back.”  He would rely on his classmates repeating what the teacher said. “Even though I knew I was hard of hearing, I didn’t like admitting it.” Things were also difficult on the football field. “Someone would yell out - and he’d come up to me later, my teammate, and say ‘Are you bloody deaf or something?’. I said no, no, no.” At home the hearing loss became harder to hide and frustrating for the family.  So Alex was taken to an Ear Nose and Throat specialist. He was diagnosed with industrial deafness due to competition clay target shooting and working in the family sawmill. His doctor told him to avoid both. “I said to him ‘You can’t do that, you’re taking my life right away from me’.”  
In his final year of school Alex was captain of the football team. Struggling to finish running cross countries and laps of the oval Alex would continue training with the seniors after the juniors went in. “I thought, ‘I’m not fit enough, I just have to train harder’. I pushed myself to the limit.”
At 17 years old Alex was sitting his secondary school exams. Unable to hear, terribly fatigued, nauseated and vomiting, Alex struggled. “I’d look at the exam papers and it was just blank – there was no concentration factor there at all.”  Thinking it was exam stress he refused to see his doctor.  But one morning Alex vomited getting into the car to go to school and his mother insisted on taking him. “My blood pressure was I think 290 on 190, and the doctor said I was going straight to the hospital.” He was unable to produce any urine for testing. “Back then, to be aware of your body functions – it didn’t happen. OK, so I’m not passing much urine, so what? It didn’t mean anything to me.”
Alex was diagnosed with chronic renal failure and started on dialysis at 17. He was reluctantly fitted with a hearing aid (he refused to have two). A few years later his eyesight began to decline and he started to wear glasses. Dialysis continued for four years before he received his first kidney transplant. It failed. After another two years on dialysis he received his second transplant which struggled to work but gave Alex a reprieve from dialysis. But after five years the transplant again failed and another 12 years of dialysis followed.  
Working around dialysis is not easy but Alex’s family business meant he could tailor his work around the dialysis schedule. “There was no pressure on me to go and have a job anywhere else. I’ve had really magnificent support from my family over the time that I’ve been crook.”  Alex’s mother was diagnosed as being the Alport carrier. One of his two sisters is a carrier and bore a daughter with gender-selective IVF.  Following this she accidentally conceived naturally and now has a young son with Alport Syndrome. He had a 50:50 chance of having Alport disease.  “We were all a little bit disappointed, but anyway that’s what happens. You have to deal with it.”
Alex’s third transplant has been working for 6 years. “Third time lucky I think.  I’m currently very happy and very healthy.” He is now in his early 50 ‘s and has recently travelled Europe and the UK. He has always been a strong supporter of research studies, and he generously gives his time to talk to dialysis and transplant patients and sufferers of kidney disease.

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          PETER’S STORY

In October 2007 Peter, a regular blood donor, was told his blood pressure was too high to give blood and that he should see his doctor. Like most young men he didn’t think much about it and didn’t mention it to anyone. But fortunately at this same time he was seeking a scuba diving certificate as a requirement for a Marine Studies course, and so off to the doctor he went for what he thought would be a routine physical.
The GP was alarmed by Peter’s very high blood pressure, visible blood in the urine and an obvious loss of hearing. He ordered a renal ultra-sound for Peter. When Peter presented the doctor’s referral to his mother she became very concerned. She had been aware of traces of blood her urine since her early twenties, and at 21 years old a kidney biopsy concluded that Glandular Fever had caused minor damage to her kidneys. But that wasn’t all that concerned her. Her sister also had blood in the urine, which they had always understood was the result of a severe attack of nephritis she had suffered as a young girl. Their father and uncle had died of kidney failure. For years the family had put all this down to an unfortunate coincidence. Alarm bells began to ring, phone calls were made to family members who were medical practitioners and Peter’s appointment for an ultra-sound quickly became an appointment with a renal specialist who ordered and immediate biopsy.
The results concluded Alport Syndrome. At last an explanation to something that for years had puzzled the family. The disease had been inherited by Peter’s mother and aunt from their father. Sadly the sisters, not knowing that they had a genetic kidney disease, passed it on to their children, Peter and his cousins Edward and Alison.
Peter’s Alport Syndrome had gone undetected for years. He was active, played basketball regularly and never suffered from anything more serious than a bad cold. His gradual loss of hearing had not been noticed by anyone - not even Peter. While Peter thought people should speak up, his family just thought he was becoming quiet and a bit anti-social, not unusual for a teenager. His teachers and parents assumed he was losing interest in school rather than losing his hearing.
Peter was prescribed a range of medications to treat the symptoms of Alport Syndrome. A diet low in salt, protein, phosphates and potassium replaced the favourite foods that most young men enjoy. Regular check ups with his specialist and GP monitored the progression of the disease. 
In October 2010, just 3 years after his diagnosis, Peter was given the news that dialysis was imminent. His filtration rate had deteriorated to such an extent that it was time to prepare both physically and mentally. In November 2010 he had a successful fistular operation, and in July 2011 he commenced haemodialysis 3 days a week. Due to an ocular abnormality caused by the disease (lenticonus),  he had the lenses in both eyes replaced in 2012.  Dialysing at home proved to an isolating experience, and after a few months Peter became depressed and very ill. When it became apparent he was experiencing signs of heart failure he was hospitalised for a short time. The decision was made to return to a dialysis centre rather than home dialysis. Peter’s health improved, and the regular interaction with other patients and staff soon lifted his spirits. 
In 2015 Peter was well enough both physically and emotionally to be place on the list for a kidney transplant. In October the happy phone call arrived and Peter received a donor kidney. His surgery was a great success, thanks to a wonderful team of doctors and nurses.
Peter is now 30 years old and looking fit and healthy. He has a positive attitude and life is looking good!
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