Looking For Answers

So I’ve used the term RETT syndrome a lot or Atypical RETT syndrome if I’m getting super technical.

We all like to be able to label things. Give a name to something so we can have some clarity on it. It answers a question, gives it an identity.

But to do that there’s always a strict set of rules in which something has to abide by to get a title.

I mentioned before that N has almost all the symptoms of RETT minus a few. 

I mean you can Google them and the first thing … well the only thing that comes up is RETT.  RETT… RETT… RETT.

When RETT was first given its name a chap linked it to a mutation in the MECP2 gene. It’s a protein that isn’t working… I’m simplifying it. But that’s pretty much how it is.

As time went on other mutations have been found that had almost the same symptoms at RETT… some more severe, others more mild versions.

FOXG1, GABBR2 , CDKL5 are other gene mutations that have RETT like symptoms.

The first thing they did for N to see what might be going on was to give her a blood test and have a look to see if she had the standard MECP2 mutation.

It came back normal. Her MECP2 gene is “normal”. The proteins in there are all functioning like they should. Doing their job properly. 

High five to her MECP2 genes!

So ok, that crosses that off the list.  Now what?

Next she had a EEG scan to see what her brain wave patterns were doing. 

Now most RETT girls have seizures - epileptic seizures.  Niamh doesn’t.

Niamhs EEG results came back showing abnormal brain wave patterns on the left side of her brain.  This side of the brain is linked to speech and weirdly… seizures. If that side isn’t pulling its weight, it's highly probable you are going to fit.

Now me being me, I researched and I researched a lot. And like I’ve said before I look at everything, I strip it all right back to the basics.

You can retrain your brain waves… create new neural-pathways, re-learn things and also prevent situations occurring. 

Stroke victims do this.  People who have had other types of brain damage can do this too.  In fact, we can do it for all sorts of stuff. Mental health, illness… I could go on. Our brains are outrageously powerful and we don’t use enough of them. 

Anyway, I digress.

So N has some funky brain wave patterns going on. This is a RETT symptom.

But no MECP2 mutation.

The next step was to have a broader look at her genes and see if there was a mutation anywhere else.  They take her genes and place them over a set of “normal” genes, the idea being any mutations will stick out like a sore thumb against the normal set.

The genetics team took her blood last December 2018, saying we would have results back at the end of January 2019.

January came and went. No update, nothing.

Now I don’t know about you but when it comes to important stuff I think it’s nice to be kept in the loop as to how it’s going?

I mean, you order some clothes from ASOS and you get an update throughout the whole process - they let you know when it’s been dispatched, when your local courier has it and also then give you a rough time as to when you’ll receive your parcel! 

Now that’s good customer service.

Don’t get me wrong, I get it, they are busy. But an email at the end of January to say, “Hey, sorry guys, we are running a bit behind, we’ll keep you updated.” That would have been nice.  Or even when I rang in February… the first time I contacted them to see what was going on, it would have been super nice if they’d had the courtesy to ring me back. Even if it was just to say, “You know what? We haven’t got a clue, I’m super sorry.”

Instead, when I rang again in April just to enquire, they actually told me to “stop emailing or phoning to see what is going on”… three months after the results should have been back.

I know I like to throw the F word around a bit so you can guess what I thought to that response.

Waiting for results is a brain fuck, primarily because you hold on to hope that whatever comes back is going to answer everything, give you this clarity and understanding about the situation and make you feel better.

The truth?  Sometimes the answer won’t change a darn thing.

The reality is that an answer doesn’t miraculously fix the problem; it might give said problem a name, but it won’t make it go away. 

I mean the reality is Niamh is still going to need extra care, help and support whether her symptoms get an official name or not.  Whether they find the pesky mutation that’s malfunctioning, she is still who she is.

Nothing really changes. 

But seven months after they said they would, Niamh’s genetic test results FINALLY arrived, in a shitty little envelope.

And guess what they said?

“The microarray comparative genome hybridization test on Niamh’s stored sample gave a normal result.”

Well there’s a fucking plot twist.

If you thought my brain couldn’t be any more fucked. Well it is now.

Now this doesn’t actually mean anything.  I’ve been researching genetic testing for a few months now and as far as genetic testing goes the UK is a little retro.

Genetics can give double negative results for one thing.

But also? Genetics isn’t simple, it's like trying to find a grain of rice with a slight dent in it in a ten ton bag of rice. Ok, slight exaggeration, but not far off.

I always want answers; I always want to be able to understand. That big old WHY? …Give me an explanation!

And this is just one of a few things in my life where, as of yet, I just don’t have an answer.

So I’m trying to learn to go with it.

It doesn’t mean I won’t get an answer, but actually, like I said before, will it significantly change anything if I do?

Who knows, but its not going to stop me searching for one just yet.