May 8th 2012, our precious baby Amber was diagnosed at 10-months-old with Niemann-Pick Disease Type A. It is one of approximately fifty known Lysosomal Storage Disorders. It is a rare, fatal, genetic disorder with no cure. She is currently the only child in Australasia with this condition. We wish to share her invaluable life experiences with as many people as possible.
It has now been over 3 months since the last blog post so
many may have given up following her journey.
What can I say about how difficult it is to find the emotional energy to
put into words everything I wish wasn’t happening? However numerous comments have come my way
about how important it is to keep this going so here goes.
Firstly, Amber is doing well all things considered. There is nothing that will stop the
neurological degeneration but having the Mic-Key Peg (gastro) at least helps us
address her nutritional needs which in turn will keep her as strong as
possible. It is so important that she is
kept well in order to maintain her immune system & fight off any bugs which
can have devastating consequences for the Niemann-Pick child. Sadly a few NPA children have lost their
lives fighting respiratory infections.
We noticed such a rapid decline in December when Amber caught a “normal”
virus & lost her appetite. It was
like the trigger for the start of her regression. She became so weak after this which led to
the nasal gastric insertion.
Amber’s subsequent check-ups have been the affirmation we
needed that the Mic-Key operation was a good move. Prior to the operation she was under 8kg –
her weigh-in yesterday put her at 9.4kg.
This is phenomenal considering she has been up & down around the 7.5kg mark for about 6 months prior to this.
While the weight gain will not affect her neuro-muscular decline I think
it makes her a little more comfortable with the extra cushioning around her
bones. She is also sleeping better which
will help with her overall wellbeing (& mine!).
Having the tube removed from her throat as well as the adnoidectomy has
resulted in better breathing & a renewed interest in food. She started taking twice as much puree from
the spoon than before the procedure but this has sadly declined again in the
last couple of weeks. While she is still
showing enjoyment in food & until I know it is unsafe to feed her orally,
we will keep encouraging this.
Check out the new belly accessory!
Amber’s gastro tube site is healing well with just the
expected oozing & slight granulation as the skin tries to repair itself but
we have this under control with creams & powders. It seems to cause her little discomfort now &
the pain medication we use is for the side effects of the disease. Occasionally her hand will stray to feel her
peg as though she is aware of a new sensation there.
Yep - member of the Mic-Key peg club now
After coming home from Auckland where Amber’s operation was
performed, I came down with a nasty headcold just as I was trying to throw my
energy into Rare Disease Day awareness & fundraising. I believe the emotional & mental exertion
of everything had taken its toll & my body said “enough!” I have found I will get a burst of energy
& throw myself into networking with others, gaining support, emailing etc then
I will need a complete “Niemann-Pick” holiday where I cannot bear communicating
May 8th marked the one year anniversary since
diagnosis. It is one of the dates that
will be firmly etched in my mind for the years to come. A black mark on the calendar. It seems to have gone so fast it is hard to
believe we have been living this long with the knowledge of what lies ahead. It really is a day to day process
of rolling with the punches & dropping all expectations. Not a bad lesson to apply to all aspects of
life really so I’d like to think we will at least come away from our
experiences with this insight. So much
energy goes into keeping “perspective” in a world that has become so surreal.
This month my energy is going into organising Amber’s
Birthday – I am concentrating on making this a happy event amidst all the
recent challenges. I’m also trying to
get myself into a better routine at home & devoting more time to
blogging. I also want to concentrate on
giving some more of my time to my 10-year-old son who is starting to show that
he is being affected by this stressful situation. At some point it is my goal to document Amber’s
journey month-by-month. One thing I have
learned is that while there are certain expectations with NPA, none of the
affected children have followed the same pattern & that each has their own
unique story to tell.