Wobbly Wednesday – Your stories: congenital nystagmus

WobblyWedIn honor of Wobbly Wednesday, I am very pleased that Laura has offered to share her and her son Samuel’s story of congenital nystagmus.  – Ann

Samuel babyFrom Samuel’s very first check up at the doctors at 8 weeks I knew something wasn’t right. Even though he said everything was fine I couldn’t settle. I asked for a second opinion and was referred to the local screening clinic. It took around 6 months from then to finally get a diagnosis.

Samuel never tracked objects, he never acknowledged you when I entered the room, never made eye contact while feeding and those precious first smiles took a long long time to come. He still couldn’t sit up very well at 12 months and has only just started to properly crawl at around 20 months. We cannot wait for him to start walking. But when he does it will be such a special and emotional time.

After attending every baby group I was left wondering why Samuel was so behind all the other babies and felt I always had to make excuses for him. I am sad to say it affected the bond between us I spent all my time worrying about him worrying what was wrong. Looking back I regret this and I wish I cherished every moment.

After many appointments Samuel was finally diagnosed with Nystagmus. Nystagmus is a eye condition which means the eyes constantly and involuntary move. After reading the little information online it took me a while to come to terms with the fact my beautiful little boy is likely to grow up partially sighted. It did explain why things happened a lot later as his vision has taken a lot longer to develop.

Now I realised just how amazing Samuel is he went through a lot of his short life with not seeing very much. His vision is improving and he is developing into such a cheeky chappy. What I would like to tell people is to not get to hung up on the milestones. Don’t worry what other babies are doing and try not to compare. Don’t be afraid to ask for a second opinion if you are not happy with what your doctor has to say. You are the parent and going off your instinct is so important.

We have seen eye specialists, neurologists, paediatricians, ears nose and throat specialists, physiotherapists, visual team and probably some that I have forgotten and that is all before he is even 2 years old. The services we have received have been fantastic and Samuel is even more amazing then I can put into words and everything he has over come just proves what a trooper he is.

We attend the eye hospital every 3 months and they have been so good with him. They can’t tell us much at the moment we won’t know what his vision will be like until he is 6 years old. I am ready to face any hurdles as they come. I will do all that I can to help Samuel develop into a happy and confident child and young man. I’ve promised myself that I won’t project my fears and concerns on him instead guide and encourage him the best I can!


16 responses to “Wobbly Wednesday – Your stories: congenital nystagmus

  1. Pingback: Wobbly Wednesday: Nystagmus Awareness Day | Little Four Eyes·

  2. What a handsome young man.
    I have a 20 month old and a 5 year old who are registered vi with nystagmus they also have achromotopsia a condition effecting the retina. Kids are so resilient.


  3. What a wonderful uplifting story Ann. My 2.5 yr old daughter also has congenital nystagmus so I can appreciate your story.
    Samuel is a gorgeous little man & what a tower of strength you are for him.


  4. Reading this made me cry. It was like reading my own experience with my little man. He turned 1 on the 16th of October and was diagnosed with nystagmus the very next day, although I knew his eyes were wobbling from 7 weeks. While hearing the impact it will have on him was hard, it was also a huge relief to actual get a diagnosis. Jamie was also late with his milestones, sitting was tricky for him and spoon weaning was just ridiculous but it was the lack of eye contact and recognition that worried and hurt me the most. All of that said at around 10 months he went through a development spurt, he sat, he rolled, he stood and he crawled all with a space of a few weeks. He also reached out and touched my face and smiled. He now has glasses for the long sightedness he also has and although we’re only a few days in the difference is already noticeable, he’s now responding to facial expressions where as he would only ever respond to sound before. We’re still at the start of our journey and have a whole array of tests ahead of us but I feel positive and reassured and very thankful for the support I’ve found in sites like this and other forums. I also wish I could go back to the very first consultant we saw who said ‘May be he just doesn’t want to look at you.’ and say you were wrong, you caused me so much hurt but it doesn’t matter because I know what’s wrong now and we’re learning to handle is and my boy loves his mummy and I love him right back.


  5. What a fantastic story! My 21 month old daughter was diagnosed with Nystagmus when she was around 11 months old although the doctors had seen her prior to this and were still deciding what it was. Yesterday she was prescribed her very first pair of glasses and when the doctor offered me to look through the lenses which would mimic what she can see right now… it knocked me. I was a wreck. She was a little late with crut after that she has been amazing with spotting objects and people and naming everything, she is so bright. I found it hard to believe she couldnt make objects out when she was naming them all, even from a distance. I have to trust the doctors though, they are helping her from a very early age which is amazing. This story has really helped me feel more grounded about this, children are so amazing and surprise us all each and every day with new acheivements. Thank you for sharing your gorgeous son’s story.


  6. Thank you all for your lovely comments. It really helped me writing things down. I just wanted to help people with our experience! Love to all you strong mummys xxx


  7. Thank you for sharing this story. My 10 month old boy does not have the same condition but he does have a pronounced squint and is +6 long sighted (we are still at the start of our journey and I am yet to learn the proper words). He is shy, easily overwhelmed, difficult to get a smile out of, sits but does not crawl or pull himself up. Basically he is miles behind his peers which makes me so sad. I have long thought this is related to his poor sight but I haven’t found anything to back up my idea until this post and the following comments. I am looking forward to him getting his glasses to find out how much he develops. Thank you again and love to brave Samuel x


    • Hi Fran
      Samuel is now 29 months old and he is still not walking so he is way behind his peers. But he is giving it a really good go! He was exactly the same shy, overwhelmed in new situations, no smiles etc. But now we can put that down to reduced vision when he was young . He is now the most confident, outgoing, happy little boy in the room. Infact when looking at his development the only one he is above his age for is confidence. Which I’m more than happy with as I feel confidence will take them a long way in life. I know how sad it is when your baby isn’t the same as others but stick in there and just imagine how scary a world if for them that they can’t quite see properly the glasses will make such a difference it will all fall into place! Stay strong mama lots of love xxx


  8. Thank you for sharing. These stories are really helpful. Our little guy was just diagnosed at 3 months ( 2 weeks ago) with cn so we are just starting our journey. The hardest part right now is waiting for those sweet smiles and hoping that he will eventually be able to see us.


    • Hi Sam I know exactly how you are feeling. It feels like you are standing at the start of a very dark and daunting tunnel. Samuel now has a smile that lights up a room! Everyone always comments on how happy and smiley he is which is a world away from the early days! So Just stay as positive as you can. Its been a long road so far but once things start to develop it all comes on quickly!! xxx


      • Thank you so much for responding and you nailed it in terms of how this feels. So happy to hear that Samuel is doing so well – he is darling. Your story gives me hope. And, it’s nice to connect with other moms going through something similar. We are taking our little man for an MRI in the next two months (which scares me) but hopefully we will get a better picture of what’s going on.


      • HI laura, so nice to hear your story! my one year old daughter has nystagmus and some gross motor delays. I am constantly worried for her and find it hard to see other kids being more advanced than her. It help so much to see that i am not the only one in this situation!! How is your little one doing?


  9. hi laura, my daughter has nystagmus as well and had the same kind of gross motor delays. I’ve been worried for so long and always feel very sad to see al the others kids so advanced. Thanks to share! How is your little one doing now?


    • Hello there well Samuel was 3 in November and he has come so far. We have had a diagnosis of Joubert syndrome which links in a lot of his symptoms. He started walking independently at 2 years 9 months and has taken a long time to gain strength/balance etc but he runs around and there is no stopping him now. He isn’t at the same level as others his age but I’ve stopped even thinking about it now and we just celebrate Samuels achievements. Have you found the groups on facebook? I find them great for support. Please don’t be sad about your daughter not being at the same level as other children her age I know its so tough but we were once told our babies have their own development curve and they will achieve things in their own time. x


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