The Australian Cystinosis Foundation

21/08/2026

We are deeply grateful to the family of the first child transplant patient for their courage in paving a path toward a cure for our entire cystinosis community. Their strength, and especially their daughter’s strength, has opened a door to possibilities we’ve dreamed about for decades.

With her parents reporting that early results indicate her cystine levels have decreased by nearly a factor of 10, we are overwhelmed by the hope this brings to every family affected by cystinosis. Though the trial has only just begun, we feel are filled with optimism for the future by this encouraging progress.

This milestone is more than a data point — it’s a powerful reminder of how courage, science, and community can come together to change lives. We are honored to walk beside them.

👉Read the family's full statement: https://www.cystinosisresearch.org/a-historic-clinical-trial-update-from-the-family-of-the-first-child-transplant-patient/

19/08/2026

12/08/2026

https://www2.fundsforngos.org/cat/open-call-find-for-rare-research-grant-initiative/amp/

Deadline: 31-Oct-2026 The Find For Rare Research Grant Initiative provides grants of up to €50,000 for original research on Fabry disease, alpha-mannosidosis, and cystinosis. The programme supports eligible researchers and academic organizations outside North, Central, and Latin America, with fund...

06/08/2026

With 16,000+ submissions each year and an acceptance rate of just 5%, The New England Journal of Medicine is one of the most prestigious and influential medical journals in the entire world.

Dr. Stéphanie Cherqui’s publication, "Hematopoietic Stem-Cell Gene Therapy for Cystinosis," places her among the most distinguished researchers in the world—a testament to her brilliance and to the unwavering support of the CRF community.

Together, we’re proving that “Where cures begin” is more than a tagline—it’s the result of years of dedication to building a better, brighter future.

Read the article: https://www.nejm.org/doi/full/10.1056/NEJMoa2506431

05/08/2026

📱If you are 20-28 years old, live with a diagnosed rare disease and use social media, you may be interested in sharing your experiences and needs. Researchers at Fondation Ipsen are looking for people in this cohort to help shape future digital support resources through a research study. If you are interested, please email: [email protected].

Fondation Ipsen is a non-profit foundation under the aegis of Fondation de France that focuses on advancing the needs of people living with rare diseases.

For more information about things to consider before participating in health and medical research, please visit the Considerations for Participating in Health and Medical Research page on the RARE Portal: https://www.rareportal.org.au/participating-in-health-and-medical-research/

05/08/2026

https://pharmaphorum.com/news/uk-postcode-lottery-ends-life-changing-cystinosis-drug

Patients in England with rare disease cystinosis will soon be able to access a drug that has been available in other UK nations for up to three years

02/08/2026

Jordan has come full circle working as an emergency nurse at The Princess Alexandra Hospital (PAH), the same place he received a life-changing liver transplant at the age of 16. 😮🏥

Jordan's mum was prematurely induced when the doctor noticed he was growing slower than his twin brother. Not long after, he was diagnosed with a rare, inherited condition called Alagille syndrome.

Alagille syndrome is a genetic disorder where bile builds up in the liver or other organs in the body.

Jordan said the disease, which affected his heart and liver, meant things like high-contact sport were out of the question due to his brittle bones. 🦴

'When I was five, I fractured my femur just by stepping off half a step … twice!'

As the years went on, frequent checkups and hospital admissions started taking their toll on Jordan's education and attendance.

He said there were no more 'fun' days off school with his mum.

'I was at home, in bed feeling nauseous, lethargic and sleep deprived from many nights attempting to control the unforgiving itch that comes with liver disease.' 😔

By the age of 14, Jordan raised the question of being put on the liver transplant waitlist at a regular check up with his paediatrician.

'It turned out to be the biggest pitch for being waitlisted any 14-year-old would ever make because my requirement for transplant wasn't emergent, it was for quality-of-life purposes.'

Once consented and signed, Jordan's wait began. 22 months later he received a call in the early hours of the morning that would change his life—he had a transplant offer.

For Jordan, the PAH now holds a special place in his heart. It was during his long recovery there, after experiencing a rare transplant complication, that he decided to become a nurse. 🥰

'Up until that time, I was thinking I’d pursue a career in teaching, perhaps as a performing arts teacher.

'But then things got really rough with my recovery. I’d just been given the best gift of my life (my transplant) and I didn’t really think I was going to live much longer, to be honest.

'It was the nurses who really got me through.'

Jordan is now celebrating 10 years post liver transplant. 🙌

Before his transplant he said he was never able to plan his future or even foresee what it would hold.

'Thanks to my donor and their family, not only can I plan for the future, but I now can't wait to see what it has in store for me.'

What an incredible story, Jordan! Thank you for sharing it with us. 🫶

29/07/2026

The Forbidden Pharmacy has closed its doors. The fight is just beginning.

Over 1,500 people walked through. The media watched. Politicians came.

They saw the medicines New Zealanders are being denied. They heard directly from the patients who need them.

Now we hold them to it. This election, unlock the medicines New Zealanders need.

Sign the open letter calling on political parties to commit to funding the medicines New Zealanders need. Link in comments.

25/07/2026

https://www.kidneyresearchuk.org/2026/07/24/patients-and-families-with-cystinosis-in-england-to-access-to-life-changing-treatment-procysbi/

Patients living in England with the condition cystinosis will have access to life-changing treatment following decision by NHS England.

25/07/2026

Rare disorders can be difficult to diagnose and navigate, and many people and whānau experience long and complex journeys to get information, care and support.

The Ministry of Health has published the Rare Disorders Strategy Implementation Plan 2026/27.

The plan sets out practical actions' agencies will take over the next 12 months to help improve support for people and whānau living with rare disorders.

It focuses on areas such as better coordination across agencies, stronger clinical advice, clearer information, improved data, and ongoing involvement from people with lived experience.

It is an important first step under the Aotearoa New Zealand Rare Disorders Strategy 2024–2034, with progress to be reviewed and reported each year.

Find out more on the Ministry of Health website below (link in the comments).