What's Wrong With Your Baby?

The short answer is nothing. He is perfect. The long answer is well, much longer. 

The week before Christmas I was dropping JC off at nursery. Jboy was 3 months old at the time and for a change, was wide awake in his car seat. The nursery staff all love gooing and gaaing over him when he comes in and that day was no exception. After I had checked JC into his class, the nursery teacher put a concerned hand on mine and said "What is wrong with your baby?"

In that moment I felt a flood of defensiveness, little did I know that this feeling was going to dominate my spectrum of feelings for the foreseeable future. After quite harshly telling her nothing was wrong I asked what had prompted her to ask such a thing. She explained that his eyes didn't look quite right. They were constantly moving, involuntarily and she was concerned that this was 'not the norm'. 

I left feeling pretty rubbish. I was supposed to be going Christmas shopping but instead I phoned my health visitor and asked if I could bring him right up for a check over. I had noticed that his eyes danced a lot but had put this down to developmental reasons and expected that over time this would disappear. I was now doubting myself.

After a peek in his eyes with a light (much to his disgust) she said "yes, his eye movements are concerning. It looks like Nystagmus which is a visual problem, causing the eyes to move all the time, it's sometimes referred to as dancing eyes. I'll need to refer him to the specialist. I'll send away the referral today as a matter of urgency" My heart kind of sank in that moment. Not only because I hadn't raised this concern sooner, off my own back but because I didn't know what this meant for him. How would this effect him, what was the cause?  

This video will give you an idea of what his eyes looked like at that time. 

I won't bore you by slagging off the NHS waiting times, the subsequent cancellation of appointments, followed by turning up at our appointment and the doctor not actually being there, admin error. At this appointment, we were seen by the nurse who confirmed that he did have Nystagmus. She said enough in those 5 mins that filled me with dread. She couldn't give me any information, tell me why he had this, give me any indication of treatments or impact on his sight. I had to wait for the next appointment when the doctor was back. We both left feeling broken and full of questions. 

To cut a long story short. He has Nystagmus but this is only a side effect of an underlying problem. The reason he has Nystagmus is because he is albino. He has Occular Albinism which is a lack of melanin/pigment in eyes. Some people can have this all over their body so they have very pale skin, white hair and body hair. Jboy's albinism mostly effects his eyes although his skin  colouring is quite pale and his hair is blonde. We were very shocked by this diagnosis as it is genetic but we don't know of anyone in our families with this condition and being a boy, it should have come from me but I am not a carrier. We are still undergoing testing at this time to find out the source of this. 

So what does this all mean for him?

Just look at those beautiful eyes

Well, in short he will be visually impaired but we won't know to what degree until he is older. He is unlikely to drive as even with glasses his sight will not be good enough to pass the sight test. With albinism alone, this would have been a difficulty but the moving eyes will bring its own challenges. Like so many conditions, everyone experiences different symptoms to varying degrees so it is really a wait and see scenario. 

The Head Tilt

What I can tell you is that his sight wont get any worse and at the moment it isn't holding him back. He appears to be able to see quite a lot although we are unsure of the quality. It does mean that he has the most startling looking eyes. Big blues with a ring of white around the pupil. The main issue he has is with the sun. He is very light sensitive and he suffers in bright light. It's easier said than done to make a 10 month old wear sunglasses and a hat! 

Apart from his eye movements, the most noticeable thing is that he looks at you with a head tilt. This can sometimes look like he is grumpy or giving you the long stare but this is a common strategy that people with Nystagmus use to stabilise the eye. When he looks up at you like this his eyes stop shaking and he can see you clearly. 

There is no cure for this as it is a genetic condition, not an eye problem. Whilst there is plenty we can do to support him and techniques he will work out for himself, this isn't going away. As you get to know him, it may appear that his eyes move less. They will. His brain knows what to expect to see so his eyes do shake

The Riddick Look

less around known environments and people. When he is tired or in a busy environment they move more. From the electrical testing of brain activity they conducted at Yorkhill, we know that his brain behaves differently from the average brain. As he gets older we will have a better idea of his individual needs. For him it will mean wearing glasses, support in school (although he will be in mainstream school) and having to stay

indoors or covered in bright sunlight (we should have called him Edward Cullen lol). For his Dad and I it will mean lots of hospital visits, lots of explaining to strangers why he is 'looking at them weird' and worry, lots of worry. 

Our outlook on this is that it could be worse. It's not great, but it could be worse. When you have children you don't want them to start life with any kind of disadvantage. You want them to be able to hear, see, walk, talk without barriers. Life doesn't always go to plan. It's how you deal with disadvantage that defines you. As he grows older I will never tell him that he can't. I will always encourage him to try. I will always encourage him to strive for what he wants. Enthusiasm is the key to a successful life. It is the mind that achieves not the body. 

So to answer her question. There is nothing wrong with him. He is perfect. 

Thanks for reading!

I found this article very inspiring about a mum who wont let Albinism hold back her children's dreams which inspired me to write this post. Read it here. I had reservations about publishing this post as it's a private family matter but if someone reading this benefits from it then it is worth writing. 

NHS is a dirty word

Right. Get the kettle on, grab a cuppa and go on, you might as well get a biscuit too as this is going to be a right tale and a half. This is a cautionary tale and I hope by sharing it I can raise awareness of an issue that I don't think many parents with little boys really know much about.

Lets Start At The Very Beginning . . .

The day JC left hospital he was given the once over by the lovely midwife who had looked after me so well while I was in the hell hole that is our local maternity unit.

"He is absolutely perfect!" she told me. "The only thing is, he has undescended testes but don't worry they will probably drop down themselves in the next few months" she reassured me.

Over the next year we kept checking for them and mentioning the lack of them to the doctor and health visitor at each check up/vaccination. Each time we were told "Don't worry we'll keep an eye out for them, it'll get picked up at his check up."

The feeling of the issue being unresolved would fleet into my consciousness from time to time but I would discuss it with my health visitor and would trust her advice that there was nothing to worry about. Even when we moved to a different area, I brought it to the attention of my new Health Visitor who seemed unperturbed.

The Shit Hits The Fan . . .

After his 2nd birthday I started to get a bit 'ancy' about it. So I decided to push and made another appointment with my GP (despite being told by my Health Visitor to just wait until his 2.5 year check up). The GP examined him and confirmed that neither testicle had dropped down and that she would refer him to the hospital for a scan but that he would need an operation as the testes are most likely in the abdomen.

I did some research. Yes, I admit, I googled it. Yes, yes, yes, I know, you shouldn't google it, it's always bad news. According to various sites, including the NHS health advice site, if they are not operated on by the time they are 2 years old, there is a high chance that the testicles will need to be removed depending on the condition they are in (the heat of the body causes them to be malformed and kills of the viable sperm). Should they be able to save them and move them down into the scrotum, there is a high chance that the patient will be infertile. There is also a risk of testicular cancer, both as a child and as an adult. WHAT!?!

I am lucky enough to have a friend whose hubby is a urologist, not with little boy bits but the biology is the same. He confirmed my fears that yes, my google search was accurate and that if it was his own child he would be demanding a referral to a specialist asap.

At this point, I'm not only worried and anxious but I'm extremely annoyed. It could be forgiven if they'd missed it and only just discovered that he was missing his testes but they knew about it from birth. All it would have taken was a referral a year ago. A letter to the right person a year prior to this point could have made the difference between my boy having his own babies in the future or not.

I'm raging. I go into the doctors and she placates me with 'he's well, he's healthy, let's try to stay positive, let's not jump the gun' mixed in amongst the carefully worded 'if I had to stand up in court and defend myself against negligence I could but I can't speak for the previous GP or the Health Visitors, there has been some failings, if I were you I'd be keeping a timeline of evidence, it's hard to tell what the long term impact of this will be so it's best to keep notes'.

Are you still with me? I apologise for the length of this post but as many of my readers know, blogging is a type of therapy for me and this is really helping me get it all out!

So she sent off the referral to the hospital. I've phoned a few times to chase it up. The scan is really the important bit because the seriousness of the implications will vary depending on the location of the testes within his body. The timescales we've been given for this scan keep changing. Firstly we were told 4 weeks, then 6 weeks, then 8 weeks and now we've be told 12 weeks from the date of the letter informing us he was on the list (which in total would be 18 weeks). There are no private clinics in Scotland that will scan children and even if they did it's hundreds of pounds for the scan and would be thousands for the op.

I've tried contacting my GP to ask her to rush it through but she has refused. She told me that at the moment he appears healthy so there is nothing to worry about. I think she has missed the point. That's like saying 'you might have cancerous cells on your testicles, you might be infertile but until we scan you we won't know so lets not scan you and just think everything is fine'. What a load of utter bullshit.

The Outlook
I'm trying to keep positive and calm. I'm trying not to blame myself for not being a pushier mum. I'm trying to do all that I can to move him up the list. I'm trying not to panic. I'm trying to be patient but I am finding this whole situation extremely trying.

Thanks for listening and letting me ramble. xoxo


*disclaimer- I hate it when people slag off teachers. It's really irritating when I feel like everyone is against the profession I work in. I don't mean to cause any offence to any health professionals who may read this post. There are a lot of good health care providers out there and I am aware that budget and staff cuts contribute to a lot of the problems people are experiencing at the moment. I don't expect Health Visitors and GPs to be specialists in all areas and I appreciate we all make errors in judgement. It just sucks when it your child at the other end of someone's incompetence.