We have recently had some great news about new baby Fletcher and Isaac …
They don’t have nystagmus :-). Given the most likely diagnosis of Jack’s nystagmus is Ocular Albinism which is an X linked condition and has a 50% chance of being passed to boys, we are especially relieved and happy.
As with Isaac, I (Mum) was worried Fletcher had nystagmus. When he was first born he barely opened his eyes for two days, and when he did he squinted as if he was light sensitive. Although I learned this is fairly common with newborns, the other two boys opened their eyes straight away so I thought if Fletcher did have albinism his sight and nystagmus may be worse than Jack’s. There were other things too – his eyes jumped a lot and moved continuously, and he did a strange pirate thing where he only opened one eye at a time, especially when feeding!
Although Dad and I were well aware of the risks before we decided to have Fletcher and would have loved him equally if he had nystagmus, we are very thankful he doesn’t. Our hearts go out to every parent, Grandparent, and other family and friends who have been in or may face this situation in future.
We found out genetic testing to determine the type of albinism Jack has (Ocular Albinism – OA, eyes only affected or Oculocutaneous albinism – OCA, eyes, hair and skin affected) is still underway. A sample of Jack’s saliva was sent to the USA last summer and so far OCA1 – Oculocutaneous albinism type 1 – has been ruled out. There are three other types that will be tested for next – OCA 2, 3 and 4 (see the NOAH website for more information about each).
The genetic tests take a long time because there are many strains that can cause each type of albinism, and samples for each must be grown from the original saliva. We learned an albinism diagnosis is usually given from a VEP (Visual Evoked Potential) alone, and that the type is based on the appearance of skin, hair and eye pigmentation. Finding the exact genetic mutation is more of an academic exercise. We are glad there has been funding available for this in depth testing, and that research is being carried out to learn more about albinism.