A major global conference, Cystinosis Solidarity, is set to convene in Dun Laoghaire, Ireland, bringing together over 250 individuals from 22 countries. The event, hosted by Cystinosis Ireland in partnership with Cystinosis Network Europe, will focus on the challenges and advancements in treating cystinosis, an extremely rare metabolic disease.
Cystinosis is a genetic condition characterized by the accumulation of the amino acid cystine within the body's organs and tissues. This buildup leads to severe dysfunction, impacting kidneys, eyes, liver, muscles, and the central nervous system. The disease arises from a defect in the cellular mechanism for removing cystine, causing it to crystallize and reach toxic levels. Both parents must carry a faulty gene for a child to inherit cystinosis.
Lucy Beckwith, one of 23 people in Ireland living with the condition, described her daily life as a struggle with muscles and fatigue. "Daily life for me can be different every day," she stated. "I struggle with my muscles and my main challenges are doing a lot of physical movement. Fatigue is one of my consistent symptoms and this is something that I have to manage in order to keep up a good routine. I will plan my busy days so that I then have plenty of rest days afterwards."
Beckwith's experience includes a kidney transplant in 2018 and unrelated spinal surgery the same year to remove a tumor. She manages her condition with 30 pills daily, a regimen addressing cystinosis, her transplant, and high blood pressure. "I've had a kidney transplant, have had a tumour removed from my spine and I take 30 pills a day - and I still live with daily fatigue," she shared.
The conference, held from July 2-4 at the Royal Marine Hotel, will serve as a platform for the cystinosis community, clinicians, and scientists to share experiences and discuss progress in developing new treatments. Topics on the agenda include research updates, gene therapy developments, patient-friendly treatments, and the application of artificial intelligence in research. Breakout sessions will cater to different age groups, families, and specific aspects of living with cystinosis, such as eye health, fertility, and dietary management.
Early symptoms of cystinosis can manifest as excessive thirst and urination, feeding difficulties, and vomiting. A related condition, Fanconi Syndrome, impedes the kidneys' ability to retain nutrients, potentially hindering growth in children, who may also develop rickets, a softening of the bones. Crystal deposits in the eyes can cause light sensitivity and other complications.
Diagnosis typically involves a paediatric nephrologist, utilizing blood tests for elevated cystine levels in white blood cells, urine tests for high protein and electrolyte levels, and potentially genetic testing. While there is currently no cure for cystinosis, available treatments aim to slow the disease's progression, though they can be demanding. Patients often require additional medications and supplements to replace lost nutrients and electrolytes. Professor Atif Awan, a consultant paediatric nephrologist, noted that managing fluid and medications can be a significant burden, with affected children sometimes needing to take medications up to seven times a day and night.
"The work researchers are doing to make treatments easier to manage, more effective, and with fewer side effects is so important," Awan said. He highlighted medicated contact lenses as an encouraging development that could reduce the need for frequent, potentially painful eye drops. "Due to better management, children with cystinosis are growing better, doing better nutritionally, and are more independent adolescents and adults," he added.
Denise Dunne, head of operations at Cystinosis Ireland, emphasized the value of direct communication between patients and researchers. "It is a real privilege to be hosting this conference here in Ireland, bringing people living with cystinosis and their families face-to-face with clinicians and scientists to help shape the future of cystinosis care and research," Dunne stated. "It’s not only important for patients to hear first-hand about the development of new and better treatments, but it’s also crucial for the scientists to hear where they need to focus their efforts to help improve people’s lives."