"As someone whose daughter has Alport syndrome, it has been amazing connecting with other families."
Hannah: "I am Hannah, and I work for Alport UK. I have a six year old daughter with Alport syndrome. She became unwell at three, with blood and protein in her urine, and after a biopsy she was diagnosed with Alport syndrome."
Susie: "I’m Susie and I also work for Alport UK. My mother was diagnosed with Alport syndrome over 50 years ago. I grew up as a child carer, with a mum on dialysis and many other members of my family impacted. Thankfully Alport syndrome is on a spectrum, but two of my three boys have it, I have a cousin who has had two transplants, my sister and aunts have been impacted, and I have it and I’m partially deaf."
Hannah: "We recently hosted a social weekend in Cardiff and over 60 people living with Alport syndrome attended, along with their families. Having a rare disease can be very isolating and lots of those who came had never met anyone else with Alport syndrome. Many people arrived nervous, sitting alone, but as the weekend went on there was a powerful transformation. They would relax, sharing stories and making new friends.
"About 20 of those who participated in the weekend were young adults. They shared their experiences of kidney failure, things like deafness and eye abnormalities, and how challenging it was to balance kidney failure with work, relationships, university, starting a family, and transitioning from paediatric care into adult care. It is so difficult to face all these obstacles as a young adult while also having a rare disease and we find peer support is so important."
Susie: "The young adults also shared their experiences with the parents of the younger children. Around 15 younger children and their families attended, and the parents were amazingly positive. The parents were asking the young adults about Alport syndrome and listening to them talk about dialysis, transplantation, and combining a normal life with kidney failure. For the parents of kids newly diagnosed, seeing the young adults living successfully with Alport syndrome was inspirational. Alport syndrome affects hearing, and it can be difficult to get children wearing hearing aids and the young adults talked candidly about things like that. They are real ambassadors, and they are honest about their challenges."
Hannah: "One really moving moment was when one little boy was taking his daily medicines and the other younger children saw him. They all had experienced those feelings of isolation of being a child with a rare renal disease and were amazed they weren’t alone. When the boy took his tablets, all the children cheered and said: 'Well done!'. Two of the older children told me they’d made friends for life. It was really uplifting. As someone whose daughter has Alport syndrome, it has been amazing connecting with other families."
"One of the greatest challenges is misdiagnosis."
Hannah: "Information about Alport syndrome can be limited and not always accurate. One way we address that are the patient days – in Cardiff, we had a consultant nephrologist and a researcher who shared updates about research and answered people’s clinical questions. One young adult had had an appointment that week and was prescribed a new flozin/SGLT2 inhibitor to help protect kidney function. He received much needed reassurance about his new medication, with an explanation about how it could make his kidneys work longer."
Susie: "Because Alport syndrome is rare, most clinicians might only see one or two patients in their career, so they don’t necessarily have the latest information. This is by no means a criticism, they do an amazing job identifying Alport syndrome, but it is inevitable that there would be a lack of experience. One of the greatest challenges is misdiagnosis – there are lots of conditions that are similar but different (for example, focal segmental glomerulosclerosis (FSGS) and Alport syndrome can both be caused by mutations in the same gene). It can be a tricky journey before diagnosis.
"We try to promote the idea that a patient has to partner with their clinician and find out information together, from a reliable source like Alport UK. Every case is different, so it is vital they work with their kidney team."
Hannah: "At Alport UK, we collaborate with Alport expert clinicians and researchers in the UK and across the world to help accelerate research. We’re very in touch with latest treatments and their potential for patients. A lot of young adults go into kidney failure with Alport syndrome and don’t realise they’ve got it – they are treated for kidney disease, not what caused it. We’re trying to encourage people to really understand what caused their kidney failure."
Support from Alport UK for people living with Alport syndrome
Alport UK is a patient-led organisation which offers support and information network for all those affected by Alport Syndrome.
They offer:
- A Facebook page
- An Instagram
- A Twitter
- Videos on their YouTube channel, ‘Alport Workshops’
- Further information on the Alport UK website
- Young adult WhatsApp group
- Email at: [email protected]
