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. 

THIS!!!

Blindsided...

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. 

Procrastination... Living in the 1%

If it were an olympic sport I would win the gold medal, I'm sure.  I don't know how many times I have sat here, starting at the curser flashing at the top left hand side of the blank screen, only to close the page and walk away.  Too caught up in the now to put it all down in words.  Even now words are not coming easy.  What to say, there's so much to tell, but quite simply, what to say and where to start?

It has now been 4 years since Aerynn was in the Royal Children's Hospital in Melbourne, and we still have no definite diagnosis.  Well...  apparently we are very close, around a 99% certainty... but we've been there before only to have it reversed...  and this diagnosis is one I don't want her to have, so until it's 100% confirmed I'm going to dwell in the 1%. 

It has also been 2 years to the day since Aerynn experienced her first identifiable migraine.  Two years that she has been plagued by the "scratchy bug" which lives in her head.  

She is still a medical enigma.  No one can really tell us what is happening, or why...  The frustration of not knowing keeps eating me up from the inside.  We know she is unwell, we know her symptoms are increasing and slowly we see some progression of whatever this is that is stealing my little girls childhood.  But even if this new suggested diagnosis is correct, it's not something we can cure.  We can hope that there may be some way to delay the inevitable though...  

To type it here makes it seem so real.  I have been toying with saying it out loud at times...  having the words on my lips cause that all too familiar choking feeling come back to my throat.  I've even broached it on Facebook once or twice to see how it fits.  It didn't fit well though.  I mean, it fits Aerynns clusters of symptoms incredibly well, but putting the name with my daughters name feels wrong.  

Even if the neurologist confirms his suspected diagnosis when we see him again in 2 weeks, it won't be the final diagnosis.  There are many tentacles to the beast that is mitochondrial disease. We will know that she has been ensnared by the beast, however not sure which arm we are dealing with for some time yet...  

There! I said it.  I typed it.  It is there in black and white.  

Dr Google is not gentle with his information in Mito or the prognosis of children diagnosed with it.  The scary thing is, almost every week we see some small sign that she has some deterioration of her condition.  I don't want to see it, and them *bam* there it is, staring me in the face...  First it was tingles in her fingers, then they spread to her toes...  then she gets numbness and can't carry her weight...  And we used to blame her being "silly" for reacting to the tingles and numbness.  Heap on that great big serving of momma guilt there.. right on top of me, because I deserve it.  

So I guess this is the update that is long over due on Miss A, but not the update I wanted to write.  I don't really know how much longer I can live in the 1%age of ignorance...  ignorance isn't bliss in this case, because deep down I know that this finally fits.  After all, I was the one pushing for a diagnosis and answers.  We finally have one of the best neurologists in the country who thinks that he has the answers on my little girl, and our paediatrician says if he thinks that this is what we are dealing with, then we can be very certain it will be correct.  I have so many questions, however, I dare not think too hard about the possible answers...

Did I bring this upon us by wanting a diagnosis and answers so badly?

How does one come to terms with the fact their daughter is never going to be getting better?  

How does one deal with their child having what is a terminal illness?  I mean, yeah, life itself is a terminal condition... but... 

I can't do this right now.  Which is why I am living in the 1%... pretending that my world isn't about to collapse all around me.  Living in the bliss of ignorance, delaying the inevitable...  I don't think I can live here much longer, but I'm going to try to for as long as I can... I simply can't deal with the alternative at the moment. 

Happy 5th Birthday Little Princess

Our little Miss A, 

Your birthday has been and gone.  Today is August 10th, two days ago you turned 5 years of age.  There was a stage we weren't sure you would see this magical number.  You have proven so much strength and resilience.  Sure, there are challenges, but we get through them, and every morning is a clean slate and a new day to discover.  

Aerynn, you are a headstrong Miss who knows what she wants.  Your teachers believe you are gifted beyond your years and work on another level compared to other children your age.  Your brain has compensated everything your body has limited you with, but in saying that you are doing soon well physically - almost reaching the accepted growth charts!!!!!  Our little princess is growing!!!!  

So for your 5th birthday we had a big celebration - 3 weeks early. Nanny and poppy came to visit from Tasmania so we had a birthday celebration then so they could join in the fun.  Most other little girls would love princess parties or have a disney or frozen theme, but no, Miss Aerynn insisted on a high tea with her friends.  Complete with cucumber sandwiches, cupcakes and mini cups of tea.  We went racing around town trying to find a tea set for you to use, and discovered a set which belonged to a 90 year old woman.  She had it for quite a while.  It was white, and so fragile...  you could see through the china it was so delicate.  A light blue decoration was on the outside.  I loved it, it was a reflection of you... so pale, fragile and delicate with soft blue eyes burning with intelligence and a fire from within.  It was simply perfect for your high tea.

Nanny made your birthday cake.  You were very indecisive with what you wanted...  apparently a 10 layer wedding cake was not in our budget - much to your disgust.  Instead you allowed us to talk you into a pretty castle cake, complete with turrets. Nanny stayed up ALL NIGHT decorating the cake, making it perfect for our perfect little princess.  It received so many compliments!  Mummy mad the cakes to go inside, one double chocolate mud cake and a butterscotch mud cake.  There wasn't much left by the end of the afternoon, so it must have been very tasty.

For your birthday you asked for a baby born doll.  We found a fairy one in purple - your favourite colour.  Baby born has had several different names since she has been received.  Stacey, Leesa and Toby likes to call her "poop poop".  She is a very loved dolly.  You push her around in the pram that nanny and poppy gave you and feed her from the magic bottles.  I hope that you continue to love Stacey/Leesa/Poop Poop for ever and a day and remember these times you spend playing "mummy" with your baby dolls.  magical times in any little girls life.  

So Miss Aerynn, on your 5th birthday we wish you the best.  We with you everything, peace, love, a happy time on earth, we wish you enough. We have no idea how long you will be with us.  We don't know what the future holds for any of us.  Go ahead and write your own story.  Continue to fight, continue to defy the odds and how them the person you are inside.  Our strong headed little princess who confuses and astounds everyone is growing up... Continue to do so... be our strong and beautiful little Aerynn <3 

Love Mummy xxx

New Year, Long Overdue Update

2015 has come and gone and we are now several days into 2016 so way overdue for an update.  

As I type Aerynn is throwing a massive tantrum so well on track of typical 3/4nager behaviour.  

Medically, Aerynn is still pretty much as she has always been.  We have changed her medical team and has new paediatrician, endocrinologist, immunologist, neurologist and therapists up in Adelaide through the Adelaide Paediatrics Clinic.  I can't recommend them highly enough!!!

She still has wonky blood sugars, however we are not checking them as stringently as we once were.  Her highs and lows really do effect her behaviour and mood, so I can usually tell where she is sitting with BSL, so if it continues for any length of time or she deteriorates I will check it so we can advise her doctors at her next appointment.  

Food wise we are treading carefully.  Not too much of the same foods as she still gets her tummy boating, diarrhoea, vomiting, mucous, ickiness in general and headaches.  she has started transitioning off neonate as her main source of nutrition which I hope will mean more sleep for me if we can maintain her BSL's through the night without her 2am feeds.  

We haven't had any obvious seizure activity increase - which is good!  She has a neurologist appointment in Adelaide next week so I am praying it will be a clear EEG and we can remove epilepsy from her query sheet.  She has vacant episodes still, but nothing really super scary or alarming for me.  Migraines are still an issue however, headaches are usually 2-3 per month with 1 of those developing into a migraine.  She has had an increase in medications to help keep them to this reduced amount.  I know it sounds higher than should be acceptable, but we need to balance medications carefully considering her age, size and development.  We don't want to create a zombie or get her reliant on strong meds at this stage.  Hopefully over time these headaches will decrease and we can wean her off the meds. Well, that's my long term hope!

Growth is slow and steady.  She has cracked the 1 meter mark!!  Woohoo!! Aerynn doesn't stand out as the little person in a group of kids the same age anymore.  She is still tiny (wears size 2-3) and the smallest in the group, but she holds her own.  Probably being loud and bossy helps ;)  Her hair has also started growing nicely throughout 2015 and it has passed shoulder length!!!  It's still thin, but we can get pony tails and clips in now to help it look less sparse :)

We had an intensive vision test towards the end of last year with

a behaviourist optometrist.  No issues were detected - yay!!!  Dentist is tomorrow and then another general health check at the paed next week.  All ready to start Kindergarten in February!!!!!

School in itself is a big and scary thing for us, knowing that we are posing her immune system to all the bugs and the likes that comes with kids being in a close environment, but I'm trying to be positive and hope that she won't be as susceptible as expected.  The school has been fully updated with her story and we hope that all the appropriate steps have been covered in the run up to starting school.  Time will tell if mainstream school (albeit super small) will be workable for Miss A or if I need to look at homeschooling her.  It's a waiting game and a big lesson in trust, faith and patience! 

So that's pretty much where we are at the moment.  A year of NO HOSPITALISATIONS!!!!  Lots of tests, investigations and more questions, no answers but we're pretty used to that now.  

Needing Answers

And soon... please! 

It's heartbreaking to see our little girl in pain and not understanding why she is hurting.  We can't tell her why her head hurts, and why she feels sick all the time.  We can't tell her it's going to get better, we simply don't know what tomorrow is going to bring.

We can, however, enjoy the times she is happy and bubbly and downright cheeky.  We can enjoy her laughter, her smile and her gorgeous pixie voice.  

We've had another rough 12 hours with Aerynn waking at 12.45am with disorientation, lots of scared tears, glazed over look on her face, non-responsive to questions, full body tremors which slowly eased to just hand and feet tremors by 1am, when she fell into a deep deep sleep and was not stirring even when being picked up and moved.  She slept 9 hours straight...  woke, bright as a button... only to be sleepy within the hour and needing 3 naps during the day.  No headaches and no remembering what happened during the night. 

We don't know what is happening.  

We are worried, but trying not to worry at the same time.  

We can increase her medication for migraines to the full strength if we feel it necessary... But I don't know if these episodes are migraines or not.  We suspect they are seizures.  

We have an urgent appointment with her paediatrician in 2 weeks time... it can't come soon enough for me!

Upping the Ante

Our little girl isn't doing so well at the moment.  She has had an increase in the intensity and frequency of her headaches in the past fortnight in particular and we suspect she may also be having some seizure activity :(  We have always been on the alert for signs of seizures as Hubby had epilepsy as a child and there it is on my side of the family as well which increases our risks of the children inheriting it quite substantially.  

Today we happened to have a GP appointment just as Miss A was in the middle of a migraine.  It wasn't pleasant travelling the 38kms to town to have her seen but I'm glad we pushed through.  

On arrival Aerynn promptly vomited several times at the reception desk, so I guess they knew we were being serious when I was saying she was unwell with a migraine.  Poor little mite ended up moaning and unable to contain her pain :(  It's so hard to see her like this and not able to help her...  

Our lovely GP saw her and agreed that it was more than a headache, our little girl is having migraines.  She also agrees that we are very possibly seeing seizure activity.  We have an urgent referral for her to see the paediatric neurologist who visits here every 3 months.  I believe they are here in December so hopefully if they haven't requested she be seen in Adelaide by then she will see him then.  Aerynns medications have been increased and we will get her up to the maximum dosage of it in order to try and reduce her migraines and their severity.  She has been prescribed painstop to help deal with the pain, unfortunately there are no anti-nausea meds she can take in conjunction to her meds so we are hoping she levels out soon.  

Our Gp was also not impressed that her next appt with the paed is next May and has called the peads rooms requesting an urgent appointment within the next month and to be for Aerynn to be under the care of another paed

whilst our regular paed is on maternity leave.  

We are trying not to worry too much.  We don't know what is happening inside her little head at the moment but at least the neurologist can rule out anything sinister and run the necessary tests to help our little girl.