Results

Results

Rett Syndrome, as a disease, has a list of “symptoms” that give you quite a clear idea as to whether the child concerned more than likely has the syndrome. 

 

There are some very obvious characteristics that Rett creates. 

 

Irregular breathing patterns and breath holding.  Hand ringing and hair pulling/holding. 

 

But the internal biological symptoms are, of course, unseen.

 

Irregular brainwave patterns is one. 

 

Niamh has irregular brainwave patterns on the left side of her brain. 

 

The other one is the Heart. 

 

The most common mutation to cause Rett syndrome is the Mecp2 mutation and this is known to not only effect the neurology of the brain but also effect the Heart. 

 

Heart arrhythmia and weakness is a symptom of Rett. 

 

The reality of this is that combining breath holding and breathing irregularities with a weak heart leads to extra stress on the heart. 

 

Girls with Rett Syndrome tend to have shorter lives. 

 

I can’t even begin to express how that makes me feel.  Quite frankly its un-expression-able. 

 

Niamh doesn’t have the mecp2 mutation. 

 

Curve ball. 

 

Of course this leads to one million extra thoughts,  questions and unknowns. 

 

About 3 months ago Niamh had a 12 lead ECG to see what her heart was like. 

 

These sorts of tests trigger such chronic stress and anxiety for me. 

 

The waiting, the absolute pure fear of what the results might show. 

 

It’s absolutely fucking petrifying. 

 

Considering they know the results then and there you aren’t allowed to be told them directly by the cardiac Dr doing the tests. The results are instantly put on the system and your Paediatric Dr has to then log on, look at them and then send you out a Letter with the results.

 

Que the three week wait. 

 

That in its self is a whole other story. 

 

But to mildly express it in three words…. Diabolical Brain Fuck.

 

The world that Niamh and I have created so far is the most heavenly place , we are lucky beyond belief and we are closely surrounded by the most incredible humans that either of us could ever wish for. Regardless of Niamh’s disease we live a life many dream of…And we are very aware of that. We’ve landed on our feet in a lot of ways.

 

Yet it is by no means easy (what life is?), and there is a continuous chronic stress that we have become exceptionally familiar with. 

 

I can’t speak for Niamh in this, as I have said before, the girl shows strength beyond this world and I will always be in awe of her.  But from a mothers perspective, the anxiety and “what ifs” that I carry can at times, be utterly overwhelming. 

 

Niamh’s Heart results came back. 

 

Niamh’s’ heart is healthy and dare I say it “normal”.

 

The relief and the bottled up fear and anxiety that I had been carrying around released itself in sobs, deep soul sobs. 

 

One less thing. One less stress on her little body. In fact, one part of her body that is on her side. Working with her, supporting her. 

 

Her wonderful pure heart. 

 

No words. 

 

I have surfed this cloud nine I’ve been on ever since. 

 

But there is a sadness that sits in the shadows. Not everyone gets that result. This isn’t a common Rett result and my heart breaks for the families that don’t have that “one less thing” to worry at night about, and I feel guilty for the cloud I sit on. 

 

It’s part of the awareness, and that’s ok. 

 

I am grateful for Niamh’s unwavering heart. A gratitude that is beyond measure.

 

I am holding on to this in spades as we take our next step on this journey of ours. 

 

The exploration continues, to find out where Niamh’s genetics are muddled. 

 

We are waiting for the results to come back from Genome Testing. 

 

And as this journey would have it , a new set of worries and questions fill my head whilst we wait. 

 

But as they say, we will get to that day when it comes.

Communication

Communication

Arthur

Arthur