New app helping Fabry’s disease patients at Royal Free Hospital

27 February 2019

Patients with a debilitating rare condition have had their lives transformed thanks to a new app which allows doctors to monitor symptoms remotely and adjust their treatment accordingly.

Patients with Fabry disease experience a range of symptoms including pain in their hands and feet, hearing loss, tiredness and cloudy vision.

The app, which was co-designed by two members of staff at the Royal Free Hospital, gives doctors a much clearer picture of the disease progression and it means they can more easily adjust treatment, including medication, to relieve patients’ symptoms. 

The Royal Free Hospital provides a service for more than 300 patients with Fabry disease, which is caused by a defective gene. Patients with Fabry do not produce a particular enzyme which is needed to break down a particular fat – this causes cell damage. Patients travel from around the country to attend twice yearly clinics appointments. 

Since the app was launched last July about 85 patients at the hospital are now regularly tracking their symptoms and medication via the app, enabling their consultants to review their health remotely and, if necessary, intervene before their next appointment or discuss any issues when they come to the clinic.

Uma Ramaswami, clinical lead for the lysosomal storage disorders unit (LSDU) at the Royal Free Hospital (pictured) and Mark Mckie, data manager for the LSDU had the initial idea for the app and helped design it, supported by feedback from their colleagues and patients.  Uma says patients who are using it find it easy to update and many are already experiencing the benefits.

Uma said: “When you only see patients twice a year it can be difficult to get a clear picture of symptoms since the last visit. The app empowers our patients to monitor the day to day variations of their symptoms and gives us, their care-givers, a much better understanding of longer-term symptom management and treatment effects.”

Ellen Nicholson, 38, a legal co-ordinator from Cockermouth in Cumbria, said she was keen to use the app as soon as she heard about it.

Ellen Nicholson is a fan of the new app as it enables her consultant to follow her progress closely and give more relevant feedback.

“My Fabry’s can be so up and down so being able to record my symptoms and levels of pain like this is really useful,” she said. “It’s been great because my consultant can follow my progress and make recommendations about my treatment or the support I need, which can make a real difference to my health and how I feel.

“It literally takes just a couple of minutes every couple of days to input. It’s so different from trying to remember six months worth of information to tell the consultant. This way they can pinpoint the problems as they arise.”

Another patient, David Bleloch, 48, an engineer from Fareham, Hampshire, said: “Up until now you’ve had no way of feeding back what’s been going on between the six month appointments. I jumped at the opportunity as I’m a data science nerd!

David Bleloch says he's excited about what the data could reveal long-term and says the app helps him discuss his condition with his consultant.

“I do a weekly update on the app. Over 40 years I’ve got to know my triggers pretty well and I know what to do to avoid major flare ups, but it’s a difficult disease and it is up and down. Now I can meet with my consultant and we can look over the data together and I can explain what was going on when my symptoms got worse.

“I think that the exciting thing is there’s now a cohort of Fabry patients all over the country putting in their data and this will be a great resource to help the team to find ways to help patients further and I hope it might also show if other people get the same kinds of reactions or symptoms as I do. I’d be really interested to know for instance if other people experience pins and needles in their gums like I do.”

“The doctors and nurses have all been solid gold. It took till my 40s to find out what the matter was with me as I was adopted so there was no family history to help signpost but ever since I got my diagnosis I couldn’t have asked for better care.” 

The patient app is just one part of the jigsaw for patients with this rare condition. Uma adds: “Gene therapy is also in the offing for Fabry patients and we will be participating in a gene therapy study this year.”