Decisions and Learning...

It's been a long time since I've posted anything - again...  Our days are blending into each other like some funny shade of grey at the moment.  The only thing dividing them are some black hours that are apparently called "night".  Most of the world sleeps through these black hours... not my household.  Toby and Aerynn are both still tag teaming the evening shift with me falling deeper and deeper into exhaustion.  But we trudge on.

The lack of updates may make it appear that nothing is happening, things are getting better, in fact, it is more like too much is happening, we are still hitting our heads against brick walls and I struggle to find the time in the day to update our "same old same old" situation.

But there is one big difference this year. With the support and guidance of our psychologist and medical team I have made the decision to homeschool the younger three children, including Aerynn.  The reality is that assimilating to a mainstream school doesn't;t make much sense.  In Aerynn's case we need to make the most of every single minute and second she has with vision and importantly within her life.  Making memories is much more important that learning to sit at a desk and follow classroom rules and etiquette.  Instead our little girl is going to run and play and swing and laugh and sing and feel the breezes and sunshine on her face.  She is going to learn in natures classroom and learn life skills rather than institutionalised learning.  Don't get me wrong, there is a place for mainstream education, I'm doing my bachelor of education for that reason, but for these three individuals, life has another path for them.  Mainstream education may come at a later stage for the boys... but for Miss A, life is for living with as much gusto as she can.  




So, our method of education is called "unschooling" and in particular is it going to be child lead.  Children instinctively question their world and learn naturally.  That is what unschooling is all about. We will have set units of work, which the children have already helped me plan, and within those units they will learn to read, write, draw, question, investigate, create conclusions and interact with their world and communities.  I won't mention too much about it here in this blog, as this is dedicated to Aerynns Journey, but I have started a new blog for our new lifestyle and importantly as a record for the children's homeschooling adventures.  It is called Hope, Dreams and Butterflies and can be found here: Hope, Dreams and Butterflies  We also have a Facebook page here:  HDB Facebook Page Hopefully I can keep up blogging and recording all that is needed, there may even be some video entries from the children!!!  I have lots of plans and dreams for this little adventure...  Praying that life will allow these dreams to become reality :)

Diagnosis Confirmation: ASD

3 weeks ago we ventured up to Adelaide for more tests and assessments for Aerynn.  One of these was to see if she has an autism spectrum disorder.  Her behaviours and reactions have always been a little left of centre, she is most definitely "quirky" and has a distinct American accent, despite need living in the US and having no contact with anyone who is of that culture.  

I honestly had no idea what the results would be.  Girls are extraordinarily difficult to diagnose with ASD as they are usually more social than boys in general and are good at masking any symptoms in an effort to blend in.  Miss A can appear to be very social at times, she can maintain eye contact and has an amazingly rich vocabulary.  She is obviously intelligent and wise beyond her years, but is this because of the huge amount of one on one time she has had growing up, is it because she has been conversing and relating to intellectuals most of her life?  I really couldn't answer those questions.  But I know that at the very least she has a sensory processing disorder.  Her reactions to touch, clothing, brushing hair etc are off the richter scale.  She needs help to start working on controlling her reactions, so off to the paediatrician, psychologist and speech therapists we went for a formal ASD assessment.  

Miss A went off quite happily with the psychologist for some play based assessment in the adjoining room, whilst I discussed her development and reactions with the speech therapist.  I have been through this process 3 times before.  I knew what it was about, I came prepared.  Our family is an open book when it comes to their medical needs and ensuring the specialist teams who are involved with them whom we trust implicitly.  I was honest, transparent and up front with everything.  I couldn't say with any certainty that her behaviours and reactions were not learned from her siblings.  I was unable to explain where she picked up the unusual accent with which she speaks.  I was also unable to exclude her behaviours and reactions being nurtured by myself throughout her early childhood when she was so desperately ill and I allowed her rely on me for everything, more than most other children are allowed.  

It hit me quite hard.  This assessment came the day after we were told about the retinosis pigmentosis.  I was already shaken to the core and hurting for my baby girl.  Having her childhood investigated at length, every incident, reaction and behaviour teased out in order to ascertain the why's and what for's...  Seeing it all lay out in front of me, I felt guilty.  I felt scared, but I felt relieved that I had taken the step that our paediatrician had guided me to take and have this assessment completed.  

Yesterday I had our feedback session in regards to this assessment.  Aerynn has been diagnosed with Autism.   I don't know to what level yet, that will be confirmed in the written report I should receive in the coming weeks.  She has been recommended to have occupational therapy, speech therapy and psychology at the very least in order to support her development.  

I am still processing this diagnosis.  I was preparing myself to be told that they were unable to diagnose her and it is all related back to something I did during her early childhood - yes, mumma guilt runs deep in me.  I've shed a tear or two, but know that the reality of this diagnosis hasn't quite hit me yet.  This is my fourth time hearing an autism diagnosis, you are never ready for it.  Your reaction is different with each and every one...  This one is different for me.  It's rocked me in a way I didn't expect.  It's hurting me deeper than I expected. 

So, it's taken 4 years, but we are finally getting answers.  We are getting closer and closer to working out my little girl and getting her the help she needs to lead the most positive and fulfilling life possible.  They aren't answers we necessarily wanted, but since when does life ever deal us the hand that we want to see?  

My baby girl has been granted her yellow ladybug wings...  

Yellow Ladybugs

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.