Our Families

Riley, Quinn, Hanna, Kaitlyn, Jacob, Wylder, Trek, Mia, Adeleida, Damon, Sarah & all our other Niemann-Pick babies.  To you & your families - I am thinking of you today as I do multiple times every day.  You are in my heart always.  

Our precious little Elf

To Amber from her brother Jai - a special family  photo
album with tactile pages for her to touch

A poem to Amber from her brother Luke

Christmas is Coming

Wow – what a busy week.  Amber had an appointment at Child Health for a routine check up with her Dietician but it also turned out to be an opportunity to touch base with her paediatrician, outreach Nurse, Occupational Therapist  & Hospice nurse.  We’re very fortunate to have all these people involved with her care.  I’ve been feeling a bit nervous with Christmas approaching & her regression as I’m worried she may have a “turn” or go downhill very suddenly when a crucial part of our team is unavailable due to the holidays.

She had the usual weigh-in & while disappointing it came as no surprise that she has lost 500gms in what has been a relatively short period of time.  It is obvious that she is weaker & losing muscle tone as her arms & legs are looking skinnier.  We have a little “bobble-head” doll as she is finding it more difficult to hold her head up.  I’ve had to admit to myself in the last week that she can no longer sit independently.  We didn’t quite make it to the 18 month mark. 

The game plan is that Amber will be weighed again on Thursday 27^th Dec & if she has not maintained her weight we will insert the nasal gastric tube.  A big step.  She will still have the experience of feeding orally but the tube be there for top up feeds & be a safety net for when she loses her appetite due to whatever bug she may pick up.

On a more positive note, she has had a happy week enjoying unusually extended periods of time lying independently on her mat, making cute “talking” noises to herself & just observing the action around her.  She is still doing some great reaching with her arms & kicking her legs when happy.

Amber - Nov 2012.  I love the highlights in her eyes in these
photos even though they're slightly melancholic.

 I have taken inspiration from a book titled “Bereaved Mother’s Heart” written by an Australian woman who lost her pre-school age son to a rare enzyme disorder (Cox’s Disease).  Her son was also hypotonic like an NPA child but when he could no longer do things for himself (eg walking) his mother would still give him the experience by doing it for him.  She would take his arms & walk him around the house everyday.  I’ve taken her lead & when Amber is not too tired I will take her weight & put her into a crawling position holding her head up so she can look around.  I will put my hand under her bottom & the other around her torso & hold her in a standing position even though she will put no weight on her feet.  I will roll her from side to side when she is too tired to do it herself.  It may be only for limited periods of time but she seems to enjoy a different perspective from being on her back all the time.  Her “normal” has changed but there is still enjoyment in life for her.

Milestones

Ok - this is fast becoming one of the worst maintained blogspots in history.  I sense a New Year's resolution coming on.
Christmas is fast approaching when all I want is for time to just slow down.  What is usually seen as something to look forward to now signifies another milestone that is bittersweet.  I really don't feel like celebrating but there is almost a sense of having to make the most of this year as Amber starts to decline.  Two days after Christmas, Amber will be 18 months old.

Amber's first photo with Santa

We had a very rough time last week as Amber caught some kind of virus & stopped eating & drinking.  I have never seen her look so weak & frail.  There is now talk of inserting a nasal gastric tube to supplement her feeding as it is such an effort for her to put on weight in the first place that she simply doesn't have the reserves to fall back on when she gets sick.  I just want a "tube-free" Christmas.  It is a massive psychological hurdle to accept a tube taped to my baby's face as the moment she gets this there is no avoiding her regression.  All our photos from this point will be of a sick-looking baby & these are not memories I want.
However it would seem my girl is a fighter (I can't imagine where she gets her stubbornness from!) - we narrowly avoided admission to hospital for rehydration as she started feeding again - small but frequent amounts & the vomiting eased.
With her episodes of whimpering & unsettledness persisting we ended up giving her a very low dose of morphine - another first that caught us off guard.
But the "first" that I was really dreading came on Friday - I could no longer get her to sit up independently.  It was a day that I knew was coming but a day that I would never be ready for.  For some reason the loss of this particular skill hit me hard.
As the days have passed I have persisted with feeding her as frequently as possible - day & night.  Having some fruit puree at 3am is not that unusual around here.  She is gaining back some strength & while her head control is very obviously weak she was able to sit up again today!  She has declined to the point where she relies on her hands on her legs to prop herself up but today she even lifted one hand to reach for her dummy (pacifier) & attempted to put it in her mouth.  I couldn't believe it.  I cling to every little thing she does that shows she is resisting this awful disease.  I keep telling myself - "just one more day".  I cannot fathom where we will be a month from now so I simply don't allow myself to think of it.  We exist for now & sometimes tomorrow but no further ahead than that.

Our Fundraising Garage Sale Approaches

It's been a crazy week preparing for our Monster Garage Sale - not just the logistics of making it all happen (smoothly!) but going "public" with our journey with Amber.  While I have always been very open about what we are going through there has also been the ability to be private about it when I'm feeling tired or having a bad day etc...
Tomorrow is our big day of setting up the hall for Saturday morning's activity.  Amber will spend the day with Nana while we get stuck in transporting the HUGE amount of goods.
Since Amber's diagnosis Dylan & I have both had to change the way we think in regards to offers of help.  There is a tendency to want to cope on our own but we have had to learn to swallow our pride & graciously accept the generosity of others.  I'm still not comfortable with it but am practical enough to realise we are going to need financial support for when Amber's needs increase & also acknowledge that people don't know how else to express their care & sympathy.  The sense of community that has gathered around us is quite mind blowing.  Amber of course is oblivious to what a stir she is creating!
While Amber's mobility may be impaired she is such a smiley, happy & social little girl.  I want nothing more than to give her the absolute best love, care & experiences during her lifetime that I can & thanks to the many people in our "care circle" she is getting the best opportunities possible in light of the circumstances.

Our First Post

Finally we have entered the world of blogging - it has taken many months for me to find the head space to put into words the emotional roller coaster ride we have found ourselves on.  Dylan has done a fantastic job of managing Amber's Facebook page but this blog is intended to share her story with an even wider audience in the hope that it may raise awareness for the disease & even help somebody else out there.  Even more importantly for ourselves, it will serve as a record of her life & a collection of memories for us to refer to in the future.

It will be a bit of a process recapping the last few months since March when Amber's hepatasplenomegaly (enlarged liver & spleen) was discovered.  It may be an even longer process for me to learn the intricacies of blogging & editing her pages!

Watch this space!