Starting At The Deep End

I suppose it would make sense to start at the beginning. Give you the history of how it all began.

I’m not going to though, I’ll start here and work backwards. Perhaps illogical to some but it makes me feel more comfortable.

Niamh is three and a half. She goes to a “mainstream” nursery three days a week (she totally loves it too).

She is yet to speak. Verbally that is. We actually chat lots. But nothing wordy. There is lots of shouting, giggling, laughter, gobbledygook and grunts. If you know her you do end up translating it pretty easily.

N cant use her hands. She can’t pick anything up, she can’t grasp objects or hold anything for long or controlled periods of time.

We do everything together, I help her eat her meals, drink, play, get dressed, get out of bed. Everything. Absolutely everything. N can’t do anything un-aided.

So technically speaking we don’t have a diagnosis for Niamh’s syndrome yet.

We have been waiting six long months for genetic test results to come back. They said they’d be here by 31st January 2019. So only five months late so far.

Yes, I’ve chased them up on it. And I’ve been told that they will tell us as soon as they get something and in the mean time “please don’t contact us” …yup. Exact quote.

What we do know though is this.

N’s symptoms are exactly the same as those of Rett Syndrome (RTT).  She has all the symptoms minus three. She doesn’t have seizures. Her head is growing at a normal rate, and she doesn’t have curvature of the spine. She also doesn’t have the MECP2 genetic mutation, which is the RTT gene mutation. (That result we got back last year).

Currently they don’t like to diagnose her with anything. So we sit in what I like to call the grey area.

Before I go on I need to be super clear. Everything I am going to write about is my experiences. My experience with the medical service and my opinions on things.

This does not mean I think I am right and my way or my thoughts and opinions are the only way. I’m just freely speaking. Take from it what you will.

The Doctors I’ve met over the last three years haven’t been that helpful. Don’t get me wrong I get it… they aren’t God and they don’t have all the answers. BUT what I have found is that there is a serious lack of broadminded thinking.

When it comes to rare unknown syndromes everyone gets a bit flustered and sits on the fence.

I was told that I would become the specialist on Niamh’s syndrome. That I would end up knowing and understanding it all better than anyone else. A highly educated medic told me that.

And I’m not good at sitting back and waiting. It’s not my thing. I have to be proactive and I have to learn and do the best when it comes to anything. Especially my daughter.

When everything started to go pear-shaped two years ago and no one could give me answers or help make things better that’s exactly what I did. I researched. I researched the shit out of genetics, symptoms and health.

Now I have always known that your body is a temple, it’s important to look after it as best you can. We only have one after all.  

Niamh’s body, for whatever reason, wasn’t doing so well, it was struggling to move. Neurologically we know her brainwaves on the left misfire. (EEG results.)

This means if N tries to get her body to do something for example, lift her spoon to her mouth, the thought gets tangled on its way to the nerves to make the action and something else happens, like her arm swings out to the side instead. Or her leg moves.  (Can you imagine how frustrating that must be for N?)

So with this base of knowledge and feeling like we cant sit around doing fuck all I thought the best place to start was with the basics.

I mean if your body is under a lot of stress you don’t want to add any more to it do you? You want to support it the best ways you can.

If your brain is struggling to function properly you need to support it and help it as much as possible (well that was my thought process anyway). So I researched heaps into “brain foods”, foods that help support the brains health and cognitive function. And also the foods that are not good that hugely effect the brain and your body in a negative way. 

I researched vitamins, minerals, foods… ANYTHING that supports all the things that N’s body was struggling with. And I’ve made sure N and I are both taking the supplements and eating the foods that help support your body. 

It’s important that you know that everything I put N on - vitamins, minerals and food - I’m on too. That’s the rule. It’s a team thing. I’m doing this with her.

So from when we started this two years ago until now, we’ve eaten over a million avocados, probably £75,000 worth of oily fish and 400 litres of coconut oil. OK, I joke. But jokes aside, you know what? It’s all made a MASSIVE difference. HUGE. I can’t even begin to express how much it helps. Don’t get me wrong it hasn’t fixed everything. The 55th avocado didn’t miraculously make her talk. But things are changing. Slowly but surely. And even the medical teams that pop in and out of the situation are shocked and impressed. The words “keep doing what you’re doing” get said a lot.

The first thing I learnt in this whole thing was the basics - start at the beginning. What are the most simple, most effective things that help anyone’s body? Because however complicated someones health is, the simple things are going to help. Even in the smallest way.