Jun 012012

Yesterday at the Useful Vision swimming session I met a mum and her two year old son who both have nystagmus. 

I only noticed towards the end of the session when taking a closer look to see what condition her son had – otherwise I wouldn’t have realised.  In the short time afterwards I learned she’s keen to have another child, but is very concerned they will inherit nystagmus too.  She has found out it’s possible to use IVF (in vitro fertilisation) technology to check the foetus for nystagmus genes in early pregnancy.  Having nystagmus herself she has first hand knowledge of what life will be like for her children, and it was clear she is not taking the decision lightly.

I think deciding whether to have children is close to the hearts of all who have nystagmus themselves and/or who have had one or more children with it.   After Jack’s ERG (electro-retinogram) and VEP (visual evoked potential tests) at 5 months old we were told his nystagmus was idiopathic which means there is no known cause for it.  No one in either of our families has ever had it before, and we were advised there was virtually nil chance our future children would have it.  Dad and I had always wanted to have at least two children so we started trying for a brother for Jack straight away.  11 months later Isaac was born :-)

One month before Isaac’s birth we opted to take part in a research trial for a new hand held scanner at Leicester (to compare the fovea of young children with and without nystagmus).  We were not expecting a further diagnosis or results from the trial as the advert stated they would not be shared until the end.  So it was a shock when they said they think Jack has ocular albinism, and with it the much higher chance that Isaac and any future children we have will inherit it.  For ocular albinism there is a 50% chance that boys will inherit it.  Girls don’t usually inherit it but there is a 50% chance they will be a carrier.

As well as this, I (Mum) was told the same day that women are the carriers for ocular albinism and when they checked my eyes they said they could see evidence of this in me.  I felt heartbroken again.  Dad, and other friends were a huge support and quickly made me realise Jack is still the same great Jack, and where the nystagmus has come from does not make any difference (and cannot be changed) – it’s what comes next that counts.

It’s almost two months after Isaac was born and he is showing signs of having nystagmus.   Whilst his eyes are not constantly on the move, there is a lot of flicking when he tries to focus, and they pan back and forth when he is tired.  His eyes seem similar to how Jack’s were at his age.  However, there is still a chance he doesn’t have it – it’s difficult to tell as we’ve not had a baby without nystagmus to compare him to.  We have an appointment at Leicester in July when they will confirm one way or the other.

Either way, we feel truly blessed to have two happy healthy boys and are so glad we are now a family of four.  I’m also glad to have met a new friend at the pool and I look forward to spending more time with her and her son in future.

  2 Responses to “New friend with Nystagmus”

  1. I’ve been thinking about Isaac and was wondering if his eyes are still jumping, or if he is starting to focus and track. Either way, you are a wonderful mom and have so much information now on nystagmus that your boys are going to be happy and well!

    • Thanks Ashleigh, that’s very kind :-). Isaac’s eyes don’t seem to have worsened, and for a couple of weeks seemed to improve. They are very variable. Sometimes he is able to focus for over ten seconds, and other times (usually when he is tired or feeding) they move and jump. He can track objects sometimes too. I’ll share how he gets on at his first appointment soon. Claire x

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