The Last 3 Weeks

I bumped into someone on the weekend who was asking after Amber – a timely reminder that I was well overdue for a blog post.  Unfortunately the blog has got neglected as I have been pouring my energy into Rare Disease Day preparations.  More about that later.

A summary of the last 3 weeks with Amber:

29^th Jan – VIDEOFLUOROSCOPY

Amber had a real time swallow test done at radiology to check if it is still safe for her to feed orally.  The fear has been that she is aspirating which can put her at serious risk of respiratory infection which has claimed the lives of some other NPA babies.  Using some high tech x-ray equipment a video was taken of Amber’s mouth & oesophagus as she drank from the bottle as well as eating some puree off the spoon (a barium solution was added to this so it would be visible on the imagery).  All looked well at the time but was still subject to further scrutiny by the specialists.

Dylan, Amber & I went straight from our local hospital to Auckland to collect my son, Luke, from the airport after visiting his Dad in Australia for a couple of weeks.  We planned our day so that we were able to take Amber to Butterfly Creek beforehand, something I had been wanting to do for a long time.  Butterfly Creek has a petting zoo/farm, crocodiles & obviously a butterfly enclosure.  The butterfly has been a significant symbol in Amber’s life for multiple reasons but that is an entire other blogpost in itself.  

Helping her with new experiences

Hmmm - too tired to be impressed

As Amber is only able to tolerate short periods of time in between sleeps she was sadly a little “over it” by the time we got to the butterflies.  Be that as it may – it’s one more thing ticked off the bucket list & another memory for us to treasure.

Prior to getting to the airport she required a dose of morphine to keep her comfortable – we still had a 2 ½ car drive home later.  The morphine completely relaxed her but she did not go to sleep as would normally be the case & was still wide awake when we got home.  For the first time in what felt like a really long time she was an absolute box of fluffies goo-ing & gaa-ing.  It was the kind of interaction we used to have, like the sun breaking through an overcast sky.  Precious moments.

Late night chats with her Mama

30^th Jan - ENT

A quick weigh-in at Child Health before our next appointment. According to the scales Amber had lost 50g.  So disappointing.   However since the NG tube was inserted she had dealt with two diarrhoea & vomiting bugs.  It really does feel like so much work for so little achievement sometimes.

Off to see the ENT doctor (Ears, Nose & Throat) after a referral based on the overnight oximetry tests we did in November.  While her baseline oxygen level was still at an acceptable level what the readings were showing was a significant drop in oxygen saturation for 10-15 mins every 2 hours or so.  Rather than taking the step to putting her on overnight oxygen we have been looking at possible underlying reasons for this desaturation in the hope that these can be addressed.

Tonsils looked fine, ears were a bit waxy so her grommets (tubes) weren’t visible & after a little camera up her nostril it was quite obvious her adenoids are enlarged.  The Dr felt that having these removed would improve her breathing.  The thought of her going under general anaesthetic now that her muscle tone has deteriorated so dramatically makes me nervous.  However, she already had a gastrostomy op scheduled for Feb 21^st so the idea became to get both procedures co-ordinated for the same time.

7^th Feb - VIDEOFLUOROSCOPY REVIEW

A catch up with Amber’s Speech & Language Therapist along with the Outreach Nurse to review the videofluoroscopy & discuss the resulting report.

With swallowing milk formula it was quite visible that she is now having to work harder to move the fluid down her throat.  She is achieving it in two swallows as she becomes more uncoordinated with her muscle control & breathing.  Initially some of the milk is going down but some is remaining in her throat/back of the mouth before she swallows again to clear it.  However with the puree, some still remains sitting in the back of her throat even after the second swallow.  While it is still going down the correct way (not into her lungs) anything that remains “sitting” at the opening is at risk of being aspirated.  

The recommendation is to keep her spoon feeds small, only a tablespoon or so at a time.  This didn’t come as any huge shock to me as she is clearly struggling more when tired & her tongue is pushing food out of her mouth unintentionally rather than moving it to the back to be swallowed.  Also the food sitting in the back of the throat certainly explains her frequent gagging & vomiting episodes.  So for now the breastfeeding & bottle feeding continues but the spoon feeding is reduced which I feel sad about as I feel I’m depriving her of a “normal” experience & source of enjoyment.

A favourite pic - taken just a couple of hours before her NG tube was inserted

15^th Feb OCCUPATIONAL THERAPY

Our fantastic Occupational Therapist visited to deliver our new trial sleep system which we applied for prior to Christmas.  

Amber’s ribs & spine are very visible due to the pressure that her enlarged organs have been putting on them.  As a result she gets very uncomfortable & was developing a pressure sore on her spine.  I have already sourced a cushioned insert for her carseat which has helped with this as well adding some support for her floppy head.  However she continues to wake frequently at night part of which we are sure is due to discomfort. 

The sleep system entails an air flow mattress & temperature regulating sheet.  Amber’s torso seems to get very hot & sweaty when she sleeps which I suspect is also due to her enlarged liver & spleen.  This sheet is quite remarkable –it has a honeycomb-like pattern on a fabric that is cool to the touch so we now sleep her directly on top of this with just a cloth under her head to catch the spills when she gags & coughs.

Whew – that more or less covers our appointments up to this week when we are in Auckland for her gastro & adnoidectomy.  Soooo nervous.

Still to re-cap – genetics, pain management, Rare Disease Day & her Grandad’s "Butterflies for Amber" charity concert.  Watch this space.