Diagnosis

Today the world caved in.

Your genetics results are back, and they reveal a mutation on the MECP2 gene.

You have a severe form of Rett syndrome.

I can't tell you how much we cried, little Poppy.

Rett syndrome is just horrible.

Infants and children with the disorder usually develop normally until approximately age 6 to 18 months. They then cease to acquire new skills and gradually or suddenly lose previously acquired abilities, such as conscious control of the hands and the ability to vocalise most sounds or words.

This diagnosis doesn't explain all your symptoms, but that really doesn't matter because Rett syndrome is degenerative and fatal and you definitely have it.

The prognosis for children with Rett is grim. Whatever else is wrong with you, Rett is the thing that breaks a mother's heart.

Those eyelashes, tho

Those eyelashes, 28 July 2017

Quality of life?

Poppy's playtime, 27 July 2017

I'm trying really hard to enrich your day with the time we spend together. You spend so much time just staring at the ceiling and it can't be good for you.

You've always been a bit passive, Popsicle; and in a way I'm glad you're not a crier or much of one to complain because I reckon you'd be breaking my heart after a month on your back in PICU.

One thing you really seem to like is music. I sing to you a lot, and we've got a Wiggles CD on high rotation that sends you off to sleep.

Today I got you up into a tumble chair to see if you'd enjoy a change of perspective sitting up for once. I don't think you really liked it much. You shook your head a lot and worried at the intubation tube. It's soul destroying to watch.

7 Months Old

Dear Little Poppy,

Today you are 7 months old.

I have to say that this is not what I expected or was hoping for. This is a shit show of negative experiences, right here: you, me and us.

I am sad and sorry for you, little Poppy, because we don't know what's wrong with you and we can't make it better. You hate the intubation tube that's helping you breathe and you hate being swaddled so that you can't pull it out.

You've always preferred to have your arms free and wave them all about.

You get really frustrated and shake your head from side to side a lot, which is obviously not great for the tube. It reminds me of a caged animal pacing. I just want you to be free.

Over the last couple of days I've taken to giving you arms-out-time. I have to stand over you and make sure you don't pull at the tube. You're pretty good, really. After a little while you settle down and just enjoy the freedom.

Poppy at 7 months, 26 July 2017

It's hard to separate all the bad things I'm feeling into discrete silos. The avalanche of worry I feel for you affects me viscerally. That sounds like bad teenage poetry, but it's the simple truth.

I worry most about your daily experience of the world. 24 hours a day in bed, mostly swaddled, staring at a hospital ward, with tubes and IV lines poking out of you and a constant hum of ward activity and monitor alarms is just an objectively awful way to pass your time.

Hovering over your bed for several hours each day to sing and talk to you is murder on my back, but it's not like I have a choice. It's the very least I can do for you, Poppy.

I love you so much, little Poppy.

If you could just start breathing on your own, that would be an enormous step forward. We could extubate you and you could get out of bed, and off the sedatives; and I could have my sweet, weird little baby back.

The one who never cries and can't really sit up like a 7 month old should; but who laughs and gurgles all the same.

Poppy at nearly 4 months, 21 April 2017

Nobody knows, it's a mystery!

Poppy, Poppy, Poppy ... what the fuck is wrong with you? Nobody has the slightest idea.

So far you have had an MRI on your brain, a heart ultrasound, two EEGs, several ECGs, and two lumbar punctures. They've taken so much blood that you got anaemic and needed a transfusion. Everything the doctors can think of has been tested, and nothing has yielded a result other than 'normal'.

While we wait for the big guns – an exome sequence, rushed through specially because you are so critically ill – your doctors are proceeding to treat you for Opsoclonus Myoclonus Syndrome (OMS).

Today is the third day you've been on extremely high dose steroids, and the first day in two weeks or so that I feel like you're here with me.

I haven't seen the crazy eyes at all today and you're quite serene.

I definitely think you're responding to this treatment. You're connecting with me.

It's beautiful and heartening, but also frightening because OMS is a life sentence. I can see myself giving up any thought of going back to work and instead devoting my time to home schooling you to protect you from any exposure to infections which might set you off.

Crazy Eyes

One of the things that's worried me about you since (almost) day one is the 'crazy eyes'.

When you were born, you were only 2.002kg and you spent the first four weeks of your life in the Special Care Nursery at Knox Private Hospital.

So tiny! Poppy and me, 27 December 2016

During that time I saw what I would come to think of as the 'crazy eyes'; a wild, chaotic rolling and flickering movement that went for 30 to 60 seconds several times a day.

At first I thought that you were just having trouble focussing your newborn eyes on the world around you. I figured you'd grow out of it. You didn't.

So that's one of the things you do, Poppy, that just ain't right.

I don't know how many people I've mentioned it or pointed it out to, but it wasn't until your health centre nurse saw it that anybody agreed with me that it might be super weird and maybe just a little bit worrisome.

She suggested I video the episodes to show to your paediatrician. Why didn't I think of that?

These videos have been instrumental in getting you the help you need. Every doctor I show them to is fascinated, but they've never seen anything like them before. They all agree that they have to be key to some diagnosis.

From ED to PICU

When we arrived at Monash emergency, around 3am on 24 June, I still thought you'd just spontaneously get better in a few days.

But over the course of the next 5 hours you seemed to withdraw more and more and get more lethargic. Your eyes were red, and your oxygen saturation was poor.

Poppy on high flow oxygen and feeding tube, 24 June 2017

The doctors put you on high flow oxygen. Your stats improved immediately, indicating that there was no underlying heart issue behind all of this. You stayed on the oxygen while we waited for a bed to open up on a ward for you.

Around 2pm you had a nasogastric feeding tube inserted because you were feeding very poorly. This was a relief to your dad and me because we'd been struggling to feed you properly for about a month. Your weight had almost plateaued. Anything that would get food into you without a fight could only be a good thing at this point, as far as we were concerned.

At 8pm the medical staff were just preparing to transfer you to a ward when you took a massive dive and had to be intubated. It was lucky you were still in the ED and not in a hallway en route.

That's how we ended up in PICU. That's how we ended up here, where you've been now for 30 days.

You've had so many tests, but no one knows what is wrong with you yet. Everything comes up negative or normal and yet you continue to suck at breathing on your own.

Initially, the doctors identified a chest infection caused by a couple of different bugs including a nasty one called VRE. It explained your immediate breathing difficulties, but not some of your other odd symptoms.

Before coming into hospital, I'd already been trying to have you checked out for come worrying behaviours.

Dear Baby

You've been in hospital for 28 days already; and I don't know when, or if, you'll ever come home.

We miss you.

Here is what we know so far:

You're crap at breathing.

On Friday night, 23 June 2017, I gave you your usual liquid iron supplement on the change table. Instead of choking on it or swallowing it, you just let it sit in the back of your throat while you turned blue from lack of oxygen. It's difficult to assess these things in the moment, but I think you stopped breathing for around 5 minutes.

Or maybe it was an eternity. It felt like an eternity.

When you finally spat out the liquid and started to breathe, you were not really with us for a good 3 minutes while you caught up with the whole concept of just being in this world.

By the time the ambo's arrived, you were a bit shocked but otherwise OK; or so we thought.

By the time I got to Maroondah hospital with you and waited in the hallway for an ED bed, you were actually smiling and laughing with me.

Poppy on the trolley at Maroondah Hospital ED, 23 June 2017.

I thought they'd monitor you for a bit and send you home. HA!

When we finally got an ED bed, they hooked you up to an oxygen monitor. You de-saturated frequently and continually. It became clear that you would not be coming home.

Maroondah wanted to transfer you to Box Hill for overnight observation but the people from PIPER said, "Hell to the no!" because Box Hill has no PICU. They took you to Monash Medical Centre around 2am on 24 June.

In hindsight, that was a VERY wise decision.