Irish woman tells of her life with rare genetic disease ahead of major global gathering

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 in Ireland.

Cystinosis is a genetic disease in which the amino acid, cystine, builds up in the organs and tissues of the body, leading to severe organ dysfunction.

It is caused by a breakdown in the mechanism for removing cystine from the cells, causing it to crystallise and reach toxic levels.

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 to 4.

Speaking ahead of the event, Lucy Beckwith (27), from Castlebar, who was diagnosed with cystinosis at the age of eight months, explained: “Daily life for me can be different every day.

"I struggle with my muscles and my main challenges are doing a lot of physical movement/exercise.

"Fatigue is one of my consistent symptoms and this is something that I have to manage daily in order to keep a good routine.

"I will plan my busy days so I then have plenty of rest days after—this helps me to cope with my symptoms. I also have issues with my swallowing and hand muscles, something which has only gotten worse as I have gotten older.”

In terms of treatments for cystinosis, Lucy takes a drug that helps manage her condition.

She also takes eye drops to help keep the crystals at bay that cystinosis causes and to help her photophobia.

Lucy takes 30 pills daily which are all different drugs to help different aspects of her condition. In particular, Lucy has high blood pressure and takes three different medications to manage this.

Part of cystinosis means individuals may have to have a number of kidney transplants during their lifetime. This is due to cystinosis causing crystals to be deposited in the kidneys, leading to long-term damage.

Lucy, whose sister had previously been diagnosed with the condition and which led to her being subsequently tested, added: “I had my kidney transplant in 2018 and I also had an unrelated spinal surgery the same year to remove a tumour.

"This was unrelated to cystinosis but impacted my body and the symptoms that come from cystinosis itself.

"It was a very hard year and my transplant was pushed back to the end of the year due to the trauma from the spinal surgery.

"I am very grateful for all of the support I had during that time and, despite it being extremely challenging, I came out the other side.

"To manage my transplant, I take immunosuppressants and a variety of different drugs.

“I try to live a positive life and manage my condition. I want to continue to be happy and to remain positive and strong.

"Everyone living with cystinosis is different. I would encourage others to get the support that they need to help manage their day-to-day life.”

In her spare time, Lucy enjoys cooking, baking, and photography.

She has undertaken various courses that support her interests and passions, including media studies, business studies and digital marketing.

Lucy hopes to work in digital marketing in the future and to create content for fun and inspiring brands.

Prof. Atif Awan, consultant paediatric nephrologist at Children’s Health Ireland, commented: “Cystinosis is a hereditary condition mainly affecting the kidneys, causing the body to lose important salts and a lot of water.

"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.”