Wednesday, 23 January 2013

Our Week of Appointments

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

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.

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