Thursday, 6 June 2013

From Gastro to Now

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 at all.

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.


  1. Woah!!!! 1.4kg gain - that's incredible!! I know how hard the recent changes have been for you guys so I am especially glad to see this update. Much love to you, Dylan and Amber as you head on with celebrating her second birthday - an amazing feat in and of itself. xoxo, Eileen
    ps: love the Mickey/Mic-key reference! she looks too cute in her hat :)

  2. Thank you Linzer Family - been feeling really guilty about the lack of blogging but have been given a little positive boost knowing you have read it so soon after "going to air". And much love to you all with your clever "I can sit up all by myself" girl. XX

  3. Just love seeing Amber's sweet face and her "belly accessory," as you've so cleverly described. That's an awesome weight gain!! I know I've never stepped on the scale and said "woo hoo" to a weight gain, but in Amber's case...WOO HOO!!!

    From one momma to another -- don't feel badly in the least for letting a little time lapse with blog posts. You're putting your family first, which is right where your heart, mind and helping hands need to be. I still remember a time when someone told me that they followed Jake's blog, but "I didn't update the blog often enough." I seriously wanted to slap her! I didn't, but politely told her that I had more important things that I was focusing on -- my son! Update when you can and when you're up for it. In the meantime, keep on being the best momma that you are and know we're always thinking of you all! Much love!

  4. Cystone:-Gastroenteritis is a very common illness in infants and children. It is usually caused by viruses that infect the bowel. It tends to be more common during winter months.

  5. Hi Laura, it was lovely meeting you at the Hospice High Tea the other week, shame we didnt have more time to chat, anyway, I've found your amazing blog so It will be nice to follow your story & Amber's incredible journey.
    Keep in touch, Christine.

  6. Hi Laura,

    I've never commented on your blog before, but i do read your posts!
    I can imagine it must be hard to find the time and energy to write your posts.

    We think of you a lot, and we hope you will find energy to post an update on your blog again.

    Big hugs for all of you, and especially for little amber!
    XXXXX Bouk