Last week Jack, Isaac and I (Mum) attended our third Leicester hospital appointment to take part in the OCT Hand Held Scanner Trial, have tests for genetics research, and find out whether Isaac has nystagmus or not (based on results from the last appointment).
Jack and Isaac were well behaved this visit. The Doctors were able to take images of the forvea of both boys with the scanner quicker than last time. Jack was very fast – a couple of minutes for each eye, and Isaac took about five minutes per eye.
I had some eye tests and gave a saliva sample to help with genetics testing. The aim is to find the cause of the nystagmus (albinism suspected) and chances of our children and their children having the condition or being a carrier. We did a saliva sample for Jack by post shortlly after our last Leicster appointment, and Dad will give one at our next appointment. The samples will be sent to a reserach centre in America and we’ve been advised it can take several months to get the results. This is because the most common causes are checked for first, and if they come back negative, they’ll check for the next most common ones and so on until they find a match.
At a recent Bounce meeting I learned it’s possible to get a referal to a specialist genetics unit (our closest one is the Centre for Life in Newcastle) where they take blood samples from three generations of a family to build up a genetic history. We have thought about this a lot and are going to wait for the results from Leicester/America before deciding whether or not to take this route. However, it’s good to know this service exists.
Does Isaac have nystagmus?
We still don’t know. Jack and Isaac both had VEP (visual evoked potential) and ERG (electro-retinogram) tests at their last appointment. The tests confirmed Jack’s nystagmus, but were inconclusive for Isaac. Isaac’s images from the OCT scanner showed his forvea is developing as it should which is a good sign, but the Doctor advised they’d like to continue to monitor him as it may just be very mild. If I didn’t know about Jack’s nystagmus I would not have suspected it in Isaac.
Our next Leicester appointment will be in appoximately six months.
We’d love to hear from you if you’ve had any experiences with later than usual diagnosis of nystagmus and/or genetics testing.