Health
the future holds but I stay positive, despite there being no treatments or therapies.
“Hopefully gene therapy might one day lead to a cure.”
Rob finally got some good news when he tracked down his mother Catherine in 2014. The pair had a tearful reunion in Wales where she had moved from her native Ireland.
Catherine told Rob she was 16 when Dinner with Irish cousins
she was forced to give him up for adoption. “She was from a very strict Catholic community and so had no choice. She’d thought of me every day since” Rob said.
Crucially Catherine said there was no history of the disease in her family. By now Daisy had arrived, which Rob with his wife Kate and their two girls Retinitis pigmentosa affects up to one in 4,000 people in Ireland.
It is the name given to a group of inherited eye conditions that affect the retina at the back of the eye.
The rod cells in the retina allow us to see in dim light and provide peripheral vision.
The cone cells in the retina work best in bright light and help us read, see detail and recognise colours.
Over time, both rods and cones are affected by RP.
The disease causes permanent changes to your vision, but to what extent and how quickly depends on the type of RP you have.
All types are usually inherited from a parent, caused by a fault in the genetic information that maintains the health of the retina.
The faulty gene makes your retinal cells stop working and eventually die but this happens over years rather than months.
This affects your retina’s sensitivity to light, which in turn causes sight loss.
For most people with RP, the early symptoms include difficulty seeing in poor light such as outdoors at dusk or in a dimly lit room.
Another symptom is the loss of peripheral vision, leaving only a central narrow field of vision often called “tunnel vision”.
An optometrist can examine your retina and if they detect any changes in your retina that could be RP, you will be referred to an ophthalmologist for more detailed testing.
They may suggest that genetic testing is carried out as well as genetic counselling where any family history of RP and the chances of passing the condition on to your children can be discussed.
Although there is currently no known cure or treatment, you will still be monitored regularly at the hospital eye clinic. meant the sense of relief was “unbelievable”. With no other cases in his relatives, he knew the risks of his girls developing it were massively reduced.
Every month or so he and his family travelled from their Surrey home to see Catherine or she would visit with Rob’s teenage half-sister.
Eventually she showed him pictures of her two brothers and their eight children, Rob’s cousins. “I tracked them down on Facebook, we started chatting and then arranged a weekend in Dublin,” Rob said.
“It was amazing to find my family on the back of being diagnosed with RP.”
To sponsor Rob and Emer, go to justgiving.com/robert-stuzer-emermccormack. To register your interest in joining Team RNIB for the 2019 London Marathon, visit rnib.org.uk/ londonmarathon.