Lucy Beckwith is one of only 23 people in Ireland who live with a rare condition.
‘Daily life for me can be different every day,’ says the Castlebar, Co. Mayo native.
‘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.’
This is because Lucy lives with cystinosis, an extremely rare metabolic disease with life-long effects.
It is characterised by an accumulation of the amino acid cystine in the organs and tissues of the body, leading to severe organ dysfunction, including the kidneys, eyes, liver, muscles, and central nervous system.
It is caused by a breakdown in the mechanism for removing cystine from the cells, causing it to crystallise and reach toxic levels.
Lucy Beckwith, who lives with cystinosis
Cystinosis is a genetic disease meaning both parents must carry a faulty gene for it to be passed on to a child. People with one copy of the faulty gene are carriers but will not have cystinosis themselves.
And Lucy’s condition means she has to take 30 pills a day and struggles with movement.
‘Due to my cystinosis, I had to have a kidney transplant in 2018 and I also had an unrelated spinal surgery the same year to remove a tumour. I now take 30 pills each day which are all different drugs to help manage aspects of cystinosis, my transplant, and high blood pressure. I am very grateful for all of the support that I had during that time and, despite it being extremely challenging, I came out the other side.’
Cystinosis Ireland will be at the heart of a major global gathering devoted to an extremely rare disease that affects 2,000 people around the world and 23 people here in Ireland.
The conference, Cystinosis Solidarity, is being presented in partnership with Cystinosis Network Europe, and is set to welcome more than 250 people from 22 countries to the event which will take place in the Royal Marine Hotel, Dun Laoghaire, from July 2-4.
The gathering will provide a forum for the cystinosis community, as well as for clinicians and scientists, to share lived experiences, the challenges people face and progress in developing new treatments.
Among the topics being featured at the conference will be research updates from around the world, including the latest gene therapy developments, more patient-friendly treatments, and the use of AI in research.
There will also be breakout sessions for different age groups and members of the family, such as parents and partners, as well as on aspects of living with cystinosis such as eye health, fertility and following a ketogenic diet.
The earliest symptoms of cystinosis can include excessive thirst and urination, feeding issues and vomiting. A condition called Fanconi Syndrome, caused by cystinosis, leads to the kidney’s inability to retain nutrients and children may fail to thrive.
They may even be diagnosed with rickets—a weakening and softening of the bones. As crystal deposits build up in the eyes, this can lead to sensitivity to light and other eye complications.
Cystinosis is typically diagnosed by a paediatric nephrologist using a blood test to identify elevated cystine levels in white blood cells. In addition, a urine test can show if there are high levels of protein and electrolytes. Finally, a genetic test may be offered in some situations.
At present, while there is no cure for cystinosis, treatments are available that slow the progress of the disease.
However, these can be difficult for patients to take. Additional medications and supplements must be taken to replace the nutrients and electrolytes lost due to excessive urination.
Professor Atif Awan, consultant paediatric nephrologist at Children’s Health Ireland, says research is making the condition easier to manage for those who have cystinosis.
‘Cystinosis is a hereditary condition mainly affecting the kidneys, causing the body to lose important salts and a lot of water,’ he says.
Denise Dunne of Cystinosis Ireland
‘This can lead to malnutrition and make it hard for children to grow and thrive. To manage the condition, salts have to be replaced every single day. Managing fluid and medications in cystinosis is a very demanding treatment routine. Affected children have to take a lot of medicines 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. One really encouraging development, highlighted at the conference, is medicated contact lenses for the eyes.
‘This could replace the need for frequent eye drops, which can be both painful and inconvenient throughout the day.
Due to better management, children with cystinosis are growing better, doing better nutritionally, and are more independent adolescents and adults.’
At the conference scientists will hear directly from people with cystinosis.
For Denise Dunne, head of operations at Cystinosis Ireland, the conference is an opportunity for scientists to hear directly from people on life with cystinosis.
‘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,’ she says.
‘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.’
- For more information on cystinosis and the work of Cystinosis Ireland, or to register for the conference, visit cystinosis.ie
