We’re delighted to welcome Cystinosis Foundation UK (CFUK) as one of our new members.
About Cystinosis Foundation UK
In 1998 Jonathan Terry, who had cystinosis, founded CFUK, with charity status and a launch conference following in 1999. CFUK has low overheads and is staffed solely by volunteers who work around full-time jobs, families and other commitments to deliver the key aims of:
- IMPROVING patients outcomes, treatments and research
- INFORMING patients, families and healthcare professionals
- SHARING stories, experience and answers.
What is Cystinosis?
Cystinosis is a rare metabolic genetic condition in which the amino acid cystine builds up and forms crystals, damaging cells throughout the body. There are approx. 190 cases in the UK with 2-3 diagnosed each year. Organs first affected are the kidneys and eyes, followed later by muscles, pancreas and other parts of the body. Although there is no cure, the cell damage can be slowed with a punishing regime of medication. Children diagnosed with cystinosis ultimately require a kidney transplant, usually before their early 20s.
Kat’s cystinosis story
Kat is the mother of non-identical twin girls. Ellie was diagnosed with cystinosis just after her first birthday. Molly does not have the condition.
‘When Molly and Ellie were born, they needed no special care – they were both perfectly healthy. I lived in a bubble of learning each day how to cope with two babies needing feeding, changing and comforting at the same time. I thought I had it mastered!!
I first noticed Ellie was drinking a lot of water when she was 11 months old. She ate fine and walked at the same time as her sister – she was just smaller. We had diabetes in the family, so for peace of mind, I took Ellie to the GP, who had no concerns at all; blood sugars were normal, just a possible urine infection. However, it wasn’t an infection. Within a matter of weeks Ellie was diagnosed with cystinosis.
I’ll never forget the phone call from the hospital consultant:
‘We have Ellie’s diagnosis.’
‘Can it be cured?’ ‘… No.’
‘Is it treatable?’… ‘It can be managed.’
As a parent, people often joke about lack of sleep, but when you are a carer of a child that needs around the clock medication, any sleep longer than two to three hours is a massive win!
When Ellie was first diagnosed all I found online were horror stories. Then I found one blog online that gave me hope for my daughter’s future. Within 48 hours I was connected to families across the world who all had a loved one with cystinosis or had cystinosis themselves. These groups have been my lifeline and provided more support and information than any hospital or GP could. Being a parent of a child with a rare disease makes you the expert. You research, you stay hopeful, you know your child and you fight for them.’
Since 2004 CFUK has raised over £1m towards the development of an innovative pro-drug that could have a massive impact on the treatment of cystinosis. The pro-drug was developed at Sunderland by the late Professor Roz Anderson, and the Medical Research Council awarded the project £1.6m in 2019 to bring it to clinical trials. CFUK works closely with Professor Herbie Newell who is now leading the project. CFUK are also delighted to be partnering with Cystinosis Ireland to fund two new research projects over the next two years.
Access to medicines
Although cystinosis patients are fortunate to have a medication the treatment regime is punishing – oral cysteamine (every 6 hours) and eye drops (every hour when awake). Delayed release treatments are available that could relieve this burden and improve adherence, but neither of these treatments has been approved to be paid for by the NHS. CFUK is working alongside many charities to improve access to medications.
Connecting with the community
Covid-19 has been isolating for many people but especially for those with a rare condition. Over the past year CFUK has run a number of ‘Cystinosis Connect’ online meetings. Although we hope these will translate to face to face meetings in the future, the online experience has made the geographical challenge of bringing people together much simpler.
Connecting with the world
The worldwide cystinosis community is very strong and active and CFUK is part of Cystinosis Network Europe and the worldwide Community Advisory Board, which is helping to bring the patient voice to researchers and pharmaceutical companies.
Like every charity supporting metabolic conditions our ultimate goal is for a cure. Till then we continue to fundraise to support all our activities for better treatments, better understanding and better care coordination.
Find out more about cystinosis by visiting their website.