Gastro Update

Amber's first 24 hours after surgery were always going to be the most critical & she has come through this like a trooper.  I've always said she had her father's stubborn streak.  

Our first night was spent in a High Dependency room close to the nurses station with all sorts of bleeping machines monitoring her vitals.  Not a lot of sleep had from either of us.  She's been very grizzly with the discomfort of recovery despite the pain medication taking the edge off.  We have not been able to pick her up for fear of hurting her which is really hard when all I want to do as her mother is give her a cuddle.  

Initially, post-op fluids were given intravenously for the first 24 hours before starting her on Pedialyte through the new gastro tube at 1/3 rate of her normal daily intake while still maintaining the IV fluids.

We feel very privileged to have been moved to our own room now with bathroom & parent bed.  I thought I'd get a better sleep this way but unfortunately Amber has still been uncomfortable, been taking a long time to settle & grizzles while awake.  

On a more positive note, the amount of oxygen she had been receiving through the nasal prongs was dropped right down yesterday until we took her off it altogether last night.  She spent the entire night breathing on her own & maintained a really healthy rate.  See - I knew she had a stubborn streak.  Miss Independent wanted to show us she could do it on her own.

Snuggled with Lamb Chops watching the Gigglebellies on You Tube

We've been carefully picking her up now for cuddles & I'm sure she is appreciating the contact.  This morning we have started giving her Neocate formula via the gastro with the goal of being back to normal intake tomorrow.  I'm convinced that part of her grizzling today is hunger but we need to proceed cautiously so as not to overburden her delicate tummy.  I've been given the green light to breastfeed her now but to hold off on the puree.  She takes a lot of comfort from nursing although it is not enough to sustain her nutritionally.  Likewise with her puree - as long as she is still showing an interest in it & it is safe for her to feed this way I intend to keep this going as long as possible.

A dose of morphine has helped to settle her down for a sleep this afternoon.  When she wakes Dylan & I hope to unhook her from all her tubes & give her a bath for the first time post-op although we need to be careful not to get the g-tube site wet.

Katie Archer - our poster girl for Rare Disease Day

I live my life on a daily basis now looking to focus on the "good" things to outweigh the "bad".  By far the best moment we had yesterday was a visit from Rare Gem, Katie Archer, & her supermum, Lisa.
I made Facebook contact after reading Katie's story on the Rare Disease Day website.  Katie has Batten Disease - another "nastie" from the group of Lysosomal Storage Diseases.  Her story really struck a chord with me as, although Katie is now 4, the progression of her disease bears many similarities with Niemann-Pick.  Due to the rarity of both conditions it is difficult to connect locally with others in the same situation so meeting Katie & Lisa was such a special moment.  It really reinforces the catch phrase "Alone we are Rare, Together we are Strong".  I could really relate to many of the things Lisa expressed - particularly living in the "here & now" & appreciating what we have rather than dwelling on the loss.  Thank you so much for making the effort to visit  us - it really means a lot.  What special people.

The Gastrostomy

The day we have long awaited with both eagerness & trepidation finally arrived.  Amber went into surgery this morning at Starship Children's Hospital to have her Mic-Key Plug feeding tube inserted.  This will enable us to administer fluids & medicines directly into her stomach via a valve in her abdomen.  We carefully considered the pros & cons before putting her through this & unanimously decided that once she heals the benefits far outweigh the risks & initial discomfort she'll experience.  We'll no longer have to worry about reinserting her nasal gastric tube which, although tiny, undoubtedly causes some irritation in her throat exasperating her persistent gag reflex.  Additionally we were keen to get the tube out of her airways as she already has her muscle deterioration from the disease which compromises her breathing.  As mentioned in my previous post, an adnoidectomy was planned for the same time with further hopes of improving her breathing.

Our pre-op consultations with the gastro team & ENT doctors were pretty straight forward but the anaesthetist expressed some concern with how she would cope with the recovery from both procedures.  Cauterising her adnoids while being tubed under anaesthetic could place additional stress on her breathing & pain management could be challenging afterwards.  There is a hesitation with the overuse of morphine as it causes respiratory depression & the last thing anyone wants is for her to end up in ICU.  We always knew that there would be a question mark over whether the gastro could be performed successfully due to her hepetasplenomegaly (enlarged liver & spleen).  Once in theatre, if the surgeon decided there was not enough room for the procedure to be done safely the decision would be made to not proceed.  With Niemann-Pick being a venture into the unknown for all of us involved we were aware this could be a little more complicated than the average gastro.

Hanging out at Ronald McDonald House prior to surgery

Imagine our surprise when we received a phone call an hour later informing us that everything had been straightforward & Amber was starting to wake up in the recovery room.
Naturally she has not been her usual self since "coming around".  We have been shifted to the HDU (High Dependency Unit) on the ward so she is monitored carefully & we manage her pain.  She has been showing considerable distress at times with only relatively short periods of sleep.  The plan is to administer fluids intravenously today & then start her on a small amount of Pedialyte through the new tube tomorrow.  We'll gradually build up to our "normal" intake with hopes of being discharged on Monday pending everything going smoothly.

Her pain is being managed with small doses of morphine as & when she needs it without exceeding the recommended 24 hour dose.  She's also been introduced to paracetamol suppositories which go...well, you know where.  Additionally there are some eardrops for her left ear which was filled with wax & showing signs of a small infection.  Surprisingly though both her tubes (grommets) were still in place.
Initially the morphine was not working & her heart rate was rising above an acceptable level with her oxygen levels dropping intermittently.  She is receiving oxygen via nasal prongs & as long as her pain is controlled her heart rate remains normal.

The Mic-Key Plug looks like a valve for blowing up an inflatable toy although it has a temporary drainage tube in it at the moment.  There is also a small incision below her belly-button from where the surgeon inserted the plug laparoscopically.  It all looks quite daunting but I'm cautiously optimistic that we are over the worst of it.

belly incision, Mic-Key Plug with drainage & nasal prongs for oxygen

While my summary of today sounds very clinical, I assure you that I have been feeling very anxious about the surgery for quite a long time.  A big hurdle.  As they wheeled her out of pre-op there is a fleeting though of "what if this is the last time I kiss her goodbye".  Anything could happen.
I could not sit still while she was being operated on & took an extended walk to the small shopping area in the hospital hoping to find something bright & cheerful for Amber.  Not a lot of luck there but it kept me occupied.

Dylan got on Skype to his family as well as finally downloading a series of photos & videos from his mobile to his laptop.  Among them was a clip of Amber on the day of her diagnosis.  Watching this was nearly my undoing.  I'm even tearing up now thinking of how robust she seemed smiling & responding & being cheeky.  How innocent she seemed before Niemann-Pick took a firm grip on her body.  How can this happen to my baby who was so full of life?  I feel sick thinking about how this horrible, horrible disease is bit by bit taking her away from us.  It was such a reminder of how much she has changed & it breaks my heart.  What a cruel, cruel process this is.

I know in the future I will be thankful for the memories we have created but for now we still have a long way to go.

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.