I catch the quiet 6:15 train, a place to gather my thoughts and plan my day.
We start with a team meeting between myself and Dr James O’Byrne, consultant clinical geneticist, and the ophthalmology team.
We examine images of the back of the patient’s eye, their family history and genetic test report. We discuss if the changes found in the gene could have caused their eye disease.
There are over 240 genes that can cause inherited retinal degeneration. A lot have families have their own unique change.
I’m at my desk checking emails. I work part-time for the charity Fighting Blindness under their Target 5000 research project, responsible for safely and accurately imparting genetic test results to patients with Inherited retinal degeneration.
At clinic, I see patients who have undergone genetic testing to explain what the results mean, how the condition is inherited, what treatment is available and what it means for future generations.
Often I have spoken to the patients over the phone and a family tree has been drawn and placed in their chart. The family tree is important when discussing who could be at risk of inheriting the gene variant in the family.
Back at my desk, I prepare future clinics and dictate the morning’s clinic. Every patient seen receives a summary letter.
I’m mindful that many patients are listening to the letters rather than reading them due to eye disease. Genetic information is not always that accessible and the summary letter allows me to concentrate on ensuring patients understand what I am saying in clinic.
As it’s a new service I have different meetings in the hospital. Today I’m meeting the pathologist as I have been trying to organise blood samples from elderly parents who may find it difficult to get to clinic.
These samples are to confirm the gene changes found in their affected child.
I head home. Evening routine is dinner, dropping to and from football, and getting out with the dog for a walk. I love to garden when I can.
- People with sight loss can ask questions of eye experts at Fighting Blindness’ Retina 2019 public day on Saturday, November 16 in the Radisson Blu Hotel, Golden Lane, Dublin. Register www.retina.ie