Our Week of Appointments

Look! Amber's hair is now long enough
that we can use two hair ties!

GENETICS
Dylan & I attended our first Genetic Counselling session last Friday to discuss potential options for future children. Niemann-Pick is an autosomal recessive genetic condition which means that both parents must be carriers of the defective gene in order to produce a child with the disease. This also means that we have a 1 in 4 chance of having another child with the same condition as Amber. While learning about Niemann-Pick, Dylan & I have also been learning about the pros & cons of a  public health system versus a private health system. What we have found with our public health system is that there are waiting lists for everything & sometimes there is no concept of exactly how long the wait will be. We were referred to genetics in June & have only just reached the top of the list. On a positive note, the geneticist & the actual service has been wonderful. I am incredibly grateful that IVF is an option for us if both gene mutations are identified in Amber's DNA analysis. We are hoping to have DNA results shortly. Unfortunately, as a result of our overloaded public health system, we were led to believe that Amber's DNA had been sent to the appropriate lab shortly after diagnosis & that it was not unusual to have a long waiting time for answers. It was only a number of months later I discovered that her blood was still sitting in "storage" here in New Zealand.

Dinner time on our way home.
Apple cider?  Why not?

GASTROSTOMY
Today we had another appointment we have anxiously been awaiting for a while.  We travelled to Starship Childrens Hospital in Auckland for an assessment with the surgeon regarding the possibility of a gastrostomy feeding tube.  Often referred to a a Mic-Key Peg, it is a tube inserted through the abdomen directly into the stomach allowing liquids & medicines to be administered.  The best way I can think to describe a low-profile version is that it looks like the kind of lidded valve you use for blowing up an inflatable toy.  We believe that for practical reasons this is a preferred feeding option to the nasal gastric.  Already we've had to reinsert Amber's NG into the other nostril as her cheek got pressure blisters from the plaster used to secure it.

At Starship's indoor playground 

Starship is an amazing place - THE main childrens hospital in New Zealand (it must be pretty cool as even Justin Bieber visited here when he came over).  We were really impressed with the surgeon who listened & gave value to our concerns.  There was always a fear that due to the vast number of children potentially requiring this procedure that Amber would not be considered a priority.  However we now have a tentative date for surgery in one months time.  My heart goes out to all the other families anxiously awaiting their turn.  We considered getting the operation done privately but this is not an option here simply because it is such a specialised procedure with a lack of specialists who can perform it.  While Amber's surgery will not be without risk we feel we are going to get the best of care as the surgeon is highly regarded for his skills.  Once again - a good result in a less than ideal situation.

Amber's Precious People (1)

Florrie, Amber & I

If there is to be a silver lining on the cloud that has been hovering over us since Amber's diagnosis it would have to be the amazing amount of love & support we have been shown by so many people.  Amber has touched so many & brought an incredible amount of  people into what I think of as our "care circle".
One such person is dear Florrie.  Amber not only has a Nana (my Mum) & an Oma (Dylan's Mum) but she has been lucky enough to have been "adopted" by Florrie who has embraced Amber like one of her own since they first met.  I have felt very humbled by the beautiful knitting she would spontaneously bring into my work & her contribution to our garage sale fundraiser.
We visited Florrie last Thursday as she is now homebound in the grips of a cruel cancer (not that there is ever a kind version).  I also felt touched by her "care circle" as she was surrounded by the love of her daughters & other family members.  It is a privilege to have all these people in our lives & know that Amber will always be looked after even when I can no longer hold her in my own arms.

The Tube & The Hospital

On Wednesday our Outreach Nurse came with the Dietitian & another nurse to our home to insert Amber's nasal gastric tube.  We discussed how we would supplement her feeding (bollus feeds vs drip feeding) & learned how to use the accompanying paraphernalia.  Dylan was fantastic & rose to the challenge of learning how to insert the tube himself - thank goodness - as I couldn't watch.  The gagging sounds were not pleasant.  It's funny though how it is the little things that get to you.  I had previsualised a clear plastic tube with a nice, discreet clear plaster on her face.  To see a pale yellow tube & a big white plaster across her cheek completely threw me & I found this the most upsetting part.  It was not what I had mentally prepared myself for.  My cute, little baby didn't look the same anymore.
Our game plan was to feed Amber as per "normal" then start with a 20ml gravity bollus feed of her Neocate formula half an hour afterwards working towards an intake of 250ml over a 24 hr period.  Theoretically this would give her an extra 250 calories a day.  The first bollus feed was given successfully while the nurses & Dietitian were still here.  It was successfully vomited back up just as they were pulling out of our driveway.  Sigh.
I had to work Thursday afternoon so Amber went to Nana's.  As Nana had not yet learned the finer details of the tube we opted to just bottle feed & spoon feed her in my absence.  She fed ok from the bottle but wasn't very interested in her puree.  She also managed to pull her tube out during her sleep.  Dylan has impressed everyone by putting it back in himself when he has only had the one lesson.
I got her home that evening - and then it began.  The start of vomiting & diarrhoea.  We have been experiencing such extremely hot days here that it has been a battle to keep hydrated.  More was coming out of Amber than was going in.  I slept beside her that night on a mattress in the lounge as I was afraid of her gagging in her sleep.  It was so hot she wore just a nappy (diaper) & everytime she needed to vomit I would see her poor little body heave with her ribs & spine clearly visible.  My poor baby.  With her previous weightloss we didn't muck around & got her straight to the hospital on Friday.

Amber being rehydrated in Hospital

The staff were great & we had a quick introduction on how an NG tube is used with a feeding pump.  Amber was rehydrated overnight with a slow feed of Pedialyte.  The vomiting stopped & we were home again the next day with a new feeding pump.
The outcome has been a blessing in an unexpected form as we are finding the drip feeding a lot more successful than the bollus feeds.  She is still reluctant with her spooned food but is now nursing the same again.  The pump allows us to get more calories into her as she sleeps whereas she seemed to just regurgitate the bollus feeds - it was feeling a little like one step forward, one step back.
It has been hitting Dylan & I so hard how much she has changed.  I certainly embrace the Niemann-Pick Foundation's motto - Perservere.

THE FEEDING TUBE

Today is a big day - Amber is getting her nasal gastric feeding tube inserted to supplement her feeding. We will still be able to feed her orally but this will help give her the extra calories she needs that we have struggled to get into her or we have got into her but have later been vomited up.
This has been a major psychological hurdle for us as Amber will now look medically unwell & it will open us up to questions like "what's wrong with your baby?" which can sometimes be answered matter-of-factly & at other times cannot be spoken about without choking up.
She has done well to get to 18-months-old & still take the bottle, pureed food & I am also still nursing her which is a great source of comfort for us both.  I believe this has helped keep her immune system strong & has been at times the only thing she will take when feeling unwell.
The tube also means that Amber will no longer be attending daycare where she has thrived being around other children & I will be dramatically reducing my work hours to care for her.  Our decision to keep Amber in daycare has been a somewhat controversial one as the Niemann-Pick child is susceptible to picking up germs & any kind of infection can have devastating consequences with their compromised respiratory system.  However we have felt that Amber has up to this point been strong enough to cope with it & the benefits she has gained from the stimulation & interaction has outweighed the risks.  We know her life will not be a long one but we have done our best to make it a good one.  
Words are insufficient for describing how wonderful all the staff at her daycare have been.  They truly are a part of our extended family & a significant part of Amber's life.  Our door remains open to all her carers at all times as they walk this journey with us.  We have shared many smiles & tears together already & I don't anticipate this will end.  It is my intention to keep making short visits with her to the centre at least twice a week as I know she gets unsettled being at home all the time.  While her body is slowing down her big blue eyes still wander around taking everything in.  The smiles are fewer but her eyes light up when she is happy & as I tell her half-brother, Luke, she is smiling on the inside.