Friday, September 23, 2016

Mitochondrial Disease Awareness Week

We expected a diagnosis the week, but it's still being investigated.  So this entry (albeit small), thoughts and prayers go out to all those with Mito, those who care for and love those with mito.  It also goes out to the mito angels, gone but never forgotten xxx  

This one's the kicker...  so many conditions which could be related to mitochondria... but it's when you get clusters of conditions involving multiple organs that mitochondrial disease starts to be questioned... such as with Miss A. 



Oh the pun is so ironic, but I can't think of another word for it...  shocked perhaps??  

We rock up to Aerynn's neurology appointment knowing that something wasn't quite right.  I mean, when you usually see the box of tissues sitting behind the desk and this time they are front an centre it's a pretty good sign something is going down.  Not to mention the fact the neurologist (who happens to be one of the best in Australia, if not the world) has squeezed you in an appointment between meetings on a non-consulting day.  

So we get there, early (something new for us, I wonder if being early may not be a good omen for us) and wait...  and wait... and the kids all do their usual "### did this", "### won't share", "### hurt me" *cue screaming tantrum*, or was it a meltdown?  Anyway, it was not a pleasant experience.  We were all tired and anxious and trying to be quiet in a medical ward which was not populated so it echoed like the grand canyon! 

Dr rushes in, and remembers us, may not be a good thing as he comments how he tips his hat to me every time we are there because of the combined load of the kids and their disabilities and how well I cope, ahhh if only he knew what was happening inside of my head! ok, he rushes in, ushers us into the room... and that tissue box, darn that tissue box!!!  Small talk ensues as he finds Aerynn's paperwork on the computer and he rustles through papers on his very overworked desk - lots of papers!  Obviously a busy busy man!!  We discuss the ongoing issues of migraines and seizures.  He explains that some of Aerynn's reactions may be behavioural, where I confirm that I agree and that is why she is having an autism spectrum disorder assessment the following Monday (this all happened on last Friday, ASD assessment is an entirely different post!).  We go on to discuss that she is to have some more hospitalisations with EEG's under sedation, and later in hospital for a leisurely week long visit attached to the EEG all the time trying to catch these pesky seizures once and for all.  

Then the sentence opener I was waiting for... "Now, we have some results back on your little missy..."  I was expecting the confirmation of mitochondrial disease which he has alluded to in previous appointments and phone conversations.  I was waiting to be told that my daughters body is failing and depending on where the mitochondria fail next will decide on her symptoms and life prognosis... instead he asks if she has had any issues with her vision.  My silly brain went all fuzzy and I couldn't find words, so simply shook my head (which, now I can compute I know was incorrect).  The words we have been waiting to hear finally fell from Dr Smith's mouth. "The DNA and genetic testing have come back with a result, a gene deletion."  Our little Miss A has been undergoing genetic and DNA analysis for 4 years now, and nothing has shown!  We know that she has something funky happening with her genes as she has so many different markers, but none of them seem to relate to each other or can be bundled together to give us a conclusive diagnosis...  but now, we finally have something concrete, something that indicated that yes, Miss A has got something going on and it has a name!!!  
Hospital waiting rooms have great toys!
Pathology room,
Womens and Children's Hospital, Adelaide, SA. 

So, as he said... vision...  The gene that Aerynn has a deletion of is responsible for a condition called Retinosis Pigmentosa.  He explains that is usually hereditary and is a progressive condition that has no cure and no treatment.  It leads to blindness.  So the concern here being, my uncle went progressively blind.  He applied to join the air force, but had symptoms of his eye condition at a young age so was denied.  He eventually went on to lost most of his vision, but we believe went undiagnosed.  Darn my families tendency to tough it out and not want to bother the doctors :/  We do know that he lost night vision, then colour vision and then his every day vision become progressively worse.  Unfortunately he passed away many years ago so we have little record or information to fall back on to confirm exactly what condition he had, however, it does match the progression of Retinosis Pigmentosa (and a few other eye conditions).  

So this brings me to Miss A...  Last year we took her to the behavioural optometrist to check her eyes before she started school.  All the kids in this family have astigmatism and need glasses.  She passed the vision test with flying colours - woohoo!  roll on to June of this year and she had the obligatory 4 year old health check at school.  I could't work it out, she failed the vision test spectacularly.  There was no denying it, and she was doing her best, but couldn't do the exam, her left eye performed the worst.  Add to that, the room was a little dimly lit, but she should have been able to compensate and see as the other children in the class had.  Anyway, I dismissed this result.  I knew she had passed the optometrist test 7 months earlier after all, why should I worry.  I still have the referral in my drawer to get a repeat vision test at the optometrist again... When we combine this with the fact she is struggling with her night vision, to the point we need to leave lights on or she screams at the top of her lungs in her bunk that she can't see and someone needs to come help her get to the toilet...  it's possible she is simply a carrier of this RP, however, signs are pointing to her having it.  The scary thing is that we've been told to be prepared for a quick progression of the disease in children, up to 5 years worth of vision was mentioned.  
"not here again"
She knows what happens in pathology rooms now.
My head was swimming with these appointments and details.  I did not expect this at all.  And as much as it is an ironic pun, blindsided  is indeed how we felt. 

In the haze we continue to discuss different symptoms Aerynn is experiencing, including persistent fungal infections (internal and external), her very obvious hair loss and the pins and needles in her feet which lead to numbness and an inability to walk.  The decision was made to push on with further testing for the mito disease instead of waiting.   As a result Aerynn had a huge number of blood tests (20ml of blood!!!) the Monday following this appointment.  Some are for further investigation into the mito disease, others are more genetic tests and some general blood tests, including a HBA1C.  The results of these bloods will filter through over the coming weeks and months.  She will be admitted to hospital to have a sedated eye test completed in order to confirm RP or to see if she is simply a carrier.  It will also determine the damage already done to her retinas.  

Should these tests be positive for having RP they won't give us a timeframe on how quickly Aerynn will lose her vision, so in the effort to be prepared and pro-active we will go with the worst case scenario and make sure that we create as many visual memories as possible in case it does happen sooner rather than later.  Should a miracle happen and she is simply a carrier it will mean that everything above is simply a coincidence.  And trust me, it will be a HUGE party time! Regardless on how this turns out the rest of the children, Nathan and I will need too be tested so the extended family are aware that they may be silent carriers of this condition, and the children will require genetic counselling when they settle with a partner in case their partner is a carrier as well and their children are affected.

Making Memories
Friday, Sept 16, 2016
West Beach, Adelaide SA.

It's a lot to take in.  We were not prepared for this.  The unknown is scary, but we have some idea on what is ahead.  We are praying, once again, for miracles.