Catarina Maporis is the head Orthoptist at Birmingham Children’s Hospital. As part of the Rare Beauty project we spoke to her about how rare diseases impact on the work that she and her team do in the eye department.
“Depending upon what condition a child has, when they come into the eye department, they see a wide array of professionals which includes someone like myself, an orthoptist, the ophthalmologist and also an optometrist. The information we gather will then create a bigger picture for us to be able to best manage that child depending upon what condition they have.
In the eye department we have lots of specialist clinics. Depending on what information we receive initially from the referral we will then allocate them to wither our general clinic or one of the more specialist ones, such as, metabolic clinic, a cranio clinic or glaucoma clinic.
We have a variety of specialist clinics. We also have multi-disciplinary team where other professionals, outside the eye team, will sit and discuss about the patient’s care, about their management and come up with a treatment plan for them.
If we have a patient with a particular rare disease we might need more information and we might pass on for second opinions. We would do all the investigative tests to try and gather as much information and then refer on or try and get other people’s opinions with regards to how we diagnose the patient.
You do get some anomalies’ when it is rare. Our job is really to gather as much information as possible. It is like a jigsaw where you are piecing pieces of the puzzle together to actually get the bigger picture and that is our job, to gather the information and try and come up with a solution.
Projects like the Rare Beauty project are really important in helping to raise awareness of rare diseases. The more information we give to people the better it is, not only for that child with the rare disease but everyone who comes into contact with them as well.”