RARE DISEASE DAY 2025: A patient story – failed kidneys, new transplants and hope
Noah (aged 24 years), Ariel (aged 20 years) and Casper (aged 16 years) are siblings from Hexham, Northumberland, UK. Their kidney journey began in 2016 when Ariel, then 11 years old, was discovered to have reduced kidney function. Over the course of the next few years this was monitored and her function gradually declined, but the family received no official diagnosis until 2019, when Noah, then 19, crash landed unexpectedly with kidney failure.
His DNA sample was then added to the Genomics England 100,000 Genomes Rare Diseases Project, where Ariel’s DNA samples had been sent, along with her parents, three years before.
This, in time, enabled the family to receive a precise molecular genetic diagnosis – a homozygous deletion of the NPHP1 gene indicating a condition called nephronophthisis. Casper’s DNA analysis also showed the same condition, meaning all 3 siblings had inherited this rare kidney disorder which typically leads to kidney failure in teenage years.
Noah was treated with dialysis, including both haemodialysis and peritoneal dialysis.
Ariel’s kidney function declined further and led also to her requiring haemodialysis. Ariel received a live kidney transplant from her mother in June 2022, and 3 months later, Noah also received a live altruistic donor kidney.
Kidney transplants are life saving, but the kidney transplant journey was not straightforward. Immediately after transplant Ariel experienced kidney rejection and this effected the long term function of the transplanted kidney.
Noah’s journey was also tough. After his kidney transplant, he experienced several episodes of kidney rejection and this resulting in the kidney failing and he restarted haemodialysis in February 2024, less that 2 years after his transplant surgery. Despite this, he gained a place at University and began a course in animation in September 2024. He fits in his haemodialysis around his studies.
Casper is currently being monitored regularly by the paediatric nephrology team. He currently has about 20% function. We know that he will need a kidney transplant sometime soon, and his father is planning to donate a kidney via the kidney organ sharing scheme when the time comes. Because Noah and Ariel’s kidney transplants haven’t been straightforward there is a certain level of anxiety over Casper having a transplant, and Noah going through it again. As a family they have asked the question whether it is something related to their particular condition that has meant the kidneys haven’t done as well as they should have. This is an important area for future research.
On a positive note, the family have taken part in the British Transplant Games each year since the kidney transplant, and in 2024 Ariel won a gold medal in archery! They plan to compete again this summer in Oxford.
They all remain hopeful that future research will help provide answers, that eventually they may all receive kidney transplants that have greater longevity and give them confidence in their future health and wellbeing.
-Sarah, mother to three amazing kids with nephronophthisis