Whilst researching nystagmus, I’ve found a few differences in the diagnosis and treatment options in the UK and USA. I got in touch with Jack’s eye Doctor, and a couple of specialists listed on the Nystagmus Network site to find out more.
MRI v’s VEP/ERG
In the USA, I’ve learned in several cases an MRI was offered as a first test rather than the VEP/ERG tests Jack had and I wondered why he was not offered one. I’ve been advised that the type of test is selected based on the initial diagnosis. The VEP/ERG tests are less invasive (and often don’t require an anaesthetic (to put you to sleep)), so where possible these are used first to find out whether an MRI is necessary.
Nystagmus Gene Testing
In the USA, some parents in a similar situation to us (son roughly the same age as Jack with congenital idiopathic nystagmus, no family history of the condition) have been offered genetics testing to check for genes that may be causing the nystagmus. It will also help determine the odds that they and their son may pass nystagmus on to future children.
I found out such tests are available in the UK (including checking for a mutated form of the frmd7 gene but this is usually only offered where there is already family history of nystagmus as it’s rare to carry it otherwise – see research posted on Jen and Ashey Bacon’s NystagmusBlog website).
I’ve discovered from some USA blogs and parents that they have been offered regular Occupational Therapy for their children soon after they were diagnosed with nystagmus to check progress and get exercises to help improve their development. As far as I’m aware this is not routinely offered on our NHS, but fortunately we can learn from our friends in the USA. Thanks to Liam’s parents for sharing experiences from their first two therapy sessions – Liam’s first day of therapy and At home vision therapy kit. We look forward to reading more and trying out the exercises with Jack.
We’re keen to learn more about nystagmus diagnosis and treatment in the UK, USA and other countries. We welcome hearing any experiences or information you have about these topics.