At Findacure, we love to speak to patients, and spend a lot of time thinking about the unique needs and challenges of being diagnosed with a rare disease. Despite this, we rarely get to be part of a patient’s interactions with the NHS. Earlier this month I got this rare opportunity, when I travelled to Birmingham Children’s Hospital at the invitation of Prof Tim Barrett, to spend two days at the Wolfram syndrome clinic. Here I met patients, families, and the medical staff who help to manage and treat this devastating disease.
Wolfram syndrome is a genetic disease, with symptoms that begin to appear in early childhood, and gradually worsen through adolescence and into adult life. Initially, patients tend to struggle to regulate their blood sugar levels. This is followed by gradual deterioration of the vision, and often problems with bladder function. Patients can have severe visual impairment by their late teens or early twenties, and hearing is also likely to have begun to deteriorate. These symptoms are sometimes partnered with depression; neurodegeneration can occur, which may lead to breathing problems in a small number of patients. Most affected people live well into adulthood, but life expectancy is reduced compared to healthy people. While Wolfram syndrome is thankfully very rare, it currently has no treatment, and has a profound effect on the lives of patients and their families.
The Wolfram clinic in Birmingham aims to help patients manage their disease, track its progression, and treat those symptoms that can be addressed. Alongside this, the team are running research studies to both understand the natural history of the illness, and to find new treatments to target its underlying cause. Patients come from all over the country for a check-up each year. During this time they have appointments with a large number of consultants and specialists, to assess all aspects of their disease. Psychologists, neurologists, ophthalmologists, geneticists, urologists, and radiologists are all involved. Even more impressive, patients are supported by a family coordinator, funded by the charity WellChild, and a transition specialist, who helps children move into the adult service, as well as helping families to secure support they need for effective care at schools and at home.
During my time at the clinic I was able to sit in on a number of consultations, and was blown away by the time and attention paid to the patients by each different speciality. Patients were given the chance to ask any questions about their disease, and all concerns were listened to and investigated. Though each patient only attends the centre once a year, this short and intensive period of investigation and treatment plays a crucial role in their understanding of the disease, as well as their health and wellbeing. One parent of a recently diagnosed child described this level of access to expertise as “a heaven”: the clinic provided answers to all of their questions, and the support they needed to move forward and provide the best care and help for their child.
While there is currently no treatment for Wolfram syndrome, the research team at the clinic, led by Prof Tim Barrett, are constantly striving for new treatments and have a promising repurposing candidate in the pipeline. During my clinic visit, Prof Barrett gave a brief summary of research progress to the patients and their families. It was great to see this open and honest approach to research from the clinical team in Birmingham: they made a real effort to involve the patients in their research. This interaction with the research team means a lot to the families. One parent spoke candidly about their own struggle with depression after their child’s diagnosis. Knowing that research into treatments was on-going, and clinical trials were on the horizon, gave them the hope and strength to move forward.
The chance to visit the Wolfram clinic and meet the families affected by this disease really highlighted the importance of rare disease research to me, but more importantly the importance of research conducted by a team with the drive to help patients. Research for the benefit of science is one thing, but research focussed on delivering real change to the lives a neglected group of people is something quite different. The treatment and attention the patients receive at the clinic is fantastic, but it is only with the delivery of new treatments that significant change can be made to their lives and futures. Over the coming months Findacure will be working with the Wolfram clinic to understand the cost of the disease to the NHS and to patients, and hopefully to develop the existing research as a candidate for our drug repurposing social impact bond. Ultimately, we will aim to provide financial support for a clinical trial in Wolfram syndrome. Watch this space to see how things develop, and visit the website of Wolfram Syndrome UK, the UK patient support group, to learn more.