Rare Disease Day-Moorfields supports global campaign about rare diseases

Post date: 
Thursday, 25 February 2016
Moorfields and Rare Disease Day Logos

Moorfields is supporting Rare Disease Day on 29 February with a number of activities including a web chat about rare eye diseases with Professor Michel Michaelides.

Rare Disease Day takes place on the last day of February each year and aims to raise awareness among the general public and decision makers about rare illnesses and their impact on patients’ lives. A rare disease is defined by the European Union as one that affects less than 5 in 10,000 of the general population. Research shows  one in 17 people, or 7% of the population, will be affected by a rare disease.

From 22 February on  our Twitter and Facebook channels we will highlight diseases such as retinitis pigmentosa, birdshot uveitis, achromatopsia and Stargardt disease which affect some of our patients.

On 29 February between 12.30-1.30pm our  web chat will give a chance for staff, patients and the general public to ask Professor Michaelides, consultant ophthalmologist,  about rare eye conditions through this link http://www.moorfields.nhs.uk/event/rare-disease-day-web-chat.

Rare Disease Day has also attracted the support of the National Institute for Health Research Biomedical Research Centre at Moorfields and UCL Institute of Ophthalmology, who are calling for patients’ voices to be heard. Patients and the general public can leave messages of support for people with rare diseases via ballot boxes in Moorfields’ clinics or online here http://www.brcophthalmology.org/rare-disease-day-2016.  

Retinal disorders overtook diabetes as the third leading cause of severe sight impairment in England and Wales in 2013. One patient who knows what it’s like to live with a rare retinal disease is Joshua De Silva who was diagnosed with retinitis pigmentosa (RP) at Moorfields Eye Hospital when he was 11.

RP is the name given to a group of inherited conditions that progressively cause reduced vision and blindness by attacking light sensitive cells in the retina. Currently there is no cure. Joshua said: “The form of RP that I have results in a very limited peripheral field and reduced night vision. I really struggle to see in low light, that includes a dimly lit room, at dusk and dawn and when the sun is beginning to set. I have my central vision but I have no outer vision.”

Now 26, Joshua continues to be seen at Moorfields: “It’s incredibly bittersweet whilst I’m here because it forces me to think about my RP and it’s not the most pleasant thing to think about. It also fills me with so much gratitude because I’m still able to live a relatively normal life.”