The Waiting Game

I wrote in a previous ramble about waiting for Genome testing results to come back. 

After riding the wave of relief of Niamhs’ heart results, the emotions that sit in the shadows whilst waiting for more results to arrive, creep back in. 

Without trying to sound dramatically negative the lack of let up in the beginning stages of having a child with a rare genetic disease is utterly exhausting. 

Everything is a fundamental life changing experience. 

Results are life changing, Whichever way they go. 

Navigating the unknown developments are a brain fuck. 

The thing is, Niamh is currently a bit of an anomaly in the Rett world. 

She doesn’t have a mutation in her MECP2 genes. 

The fact that all her symptoms are that of Rett syndrome doesn’t technically mean she could have a Rett mutation. It could in fact be a new unknown mutation. 

I know. Science can really throw some wild shapes. 

The Genome Testing that is being done looks at her whole genetic makeup. It also looks at mine too, and her fathers. 

Genome testing doesn’t just tell us where in her genes is unique. It will also tell us if she’s likely to be someone to get breast cancer or kidney disease later in life. 

It lays everything bare. 

It will also tell us if her syndrome is being carried by one of her parents. 

OH FUCK. 

I’m not going to lie. Sometimes my internal dialogue about this entire situation is completely consuming. Utterly distracting…and very toxic. 

Ok, so, from a rational perspective? One would most likely argue that Niamh’s condition is due to a De novo gene mutation. 

This just means that there was a random hiccup whilst she was created. A gene forgot to switch on. Or one was forgotten to be grown properly. 

This is by far the most common reason for syndromes and diseases. 

Mistakes happen. 

But in something like 1% of cases the gene mutation is in fact carried by a parent and given to the child.  

Its inherited. 

I’ve never felt so uncomfortable in my life. 

The thing is, I haven’t just experienced one parenting situation that isn’t of the “norm”. 

I have experienced two. Two experiences in near enough Two years of which neither are “normal”.

And people naturally link the two. 

“Do you think Arthur died because he had Rett syndrome too?”

This is the natural question. 

And when people ask it I can’t help but wonder it too. 

We are first world, and we don’t expect these things to happen to us. 

Let alone BOTH these things.

Perhaps its ignorance? Perhaps its first world ego? Both?

But it does leave you feeling on the edge of society. 

Feeling an outcast, because subconsciously there is a chance there might be something wrong with you.

This Journey so far has me waiting to know what choices I can make next. 

Am I a carrier of something? 

Can I have more children in the future?

It’s the weightiest fucking set of questions. 

It’s hard to shake off the shadow I carry around of “what if I’m a carrier”. It doesn’t matter how rare it would be if I was….there is still, however minute, a risk. And with the “luck” I have had so far I can’t help but worry. 

The layers of it all are thick and toxic. 

And the waiting game?... As we head in to the fourth month of No results?... its getting pretty distracting. 

I am at a crossroads.

I cannot move forward , and the lack of movement can make the air stale. 

There is discord running through my body. 

This unknown leaves me searching for something to anchor too. But the truth is I am waiting for something to build a new foundation on. 

And so… I wait.