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 8^th 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.

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.

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.