Breathe

Breathe....
Simple...
Right?...

Definitely for you...
Maybe for me...
But absolutely...
Not simple...
For Ella...

On March 19, 2009...
Just as it happened a few times before...
Ella started to struggle to breathe...

How can this be...
When your child...
Is hooked on a respirator...
24/7?...

But this pattern...
Was too familiar to me...
So I saw it happen...
Right before my eyes...

Her oxygen level dipped...
And came back up...
And it dipped again...

Within seconds...
Her nurse was at bedside...
As Ella became agitated...
Her eyes telling me...
Something was very wrong...

It was clear...
This was not good...
As she dipped...
Harder...

By the time I realized...
What was truly happening...
Dr. Kent was with the RT...
Trying to move air...
In my daughter's chest...

None was moving....
And I started to panic...
While the RT tried her best...
But no air was moving...

I remember a demand...
Whether it was actually a command or a yell...
I can't recall...
But Heather, a senior RT, suddendly appeared...
To second Dr. Kent...

Colour had changed...
Hands were about to perform...
Extraordinary measures...
As I pleaded to Dr. Kent...
"What can i do?"...

"You've got to give us...
space to work"...

And I see myself...
Like it was yesterday...
Take my touch away from Ella...
Bring my hands to my mouth in horror...
And back a few feet from my Ella...
To the foot of the bed...
So that the team of experts...
Could make air move...
Into her little lungs...

I stood there...
For what seemed like an eternity...
But really it happened so fast...

Lungs fnally started to let air in...
As drugs were administered to calm Ella...

On March 19, 2009...
Dr. Kent and Heather...
Saved my daughter's life...

On March 19, 2009...
I knew that Ella's time was near...

On March 19, 2009...
A handful of people were witness...
To my ordeal...

And of my daughter's struggle...
To perform what should be...
The simplest of acts...
One we all take for granted...

On March 19, 2009...
Ella gave me the biggest sign...
That I needed to get ready...
And prepare her...
And me...
For what was to come...

On March 19, 2009...
My daughter showed her maman...
What a will of steel she has...
And yet how fragile her little body was...

On March 19, 2009...
I almost lost you again...
But on March 19, 2009...
You went on to give me a gift...

The gift of 8 more days...
To love you...
Cuddle you...
Play with you...
Touch you...
Kiss you...
Feel you...
Know you...

On March 19, 2009...
You sucked your little finger...
You counted your friends...
You danced...
You smiled for maman...
You touched my cheeks...
You continued to twirl my hair...

On March 19, 2009...
You gave me the bestest of gifts...

On March 19, 2009...
You breathed...
You lived...

Je t'aime mon ange!
Maman

ELLA - Everyone Loves Little Angels

Countdown Has Begun

It's official, the coundown has begun...
And I can't do anything about it...
Not, one single thing...

Time won't stop...
No matter how clever I think...
I can be at willing it...

The countdown was always there...
Ticking away...

But with the shift from Feb. 28...
To March 1...
It has stuck me...
As the most cruel...

With all of us now in March...
I can't escape it...

Every day is a stronger reminder...
Than the next...
On what's to come on March 27...

Every day is full of memories...
Some that were hopeful...
And then the reality of the events...
Hits me right in the face...

And as if that was not enough...
It is a constant reminder...
Of what I wanted to do...
But could not do...
To honour Ella yet...

A long list await...
But life gets in the way...

Life for now equates with work...
The place where although I know it helps...
I can't focus on my daughter as much as I'd like...

The place where I started having panick attacks again...
The place where I find myself in tears, more and more daily...
Not because someone is mean...
Not because of the work load...
But simply because the countdown is on...

The place, like the rest of the world, where everyone has a life...
A real life..
Although maybe not always happy...
A life without the black cloud...

A place that I must be at...
Because otherwise I won't be able...
To keep my home, Ella's home...

Rare Disease Day went un-noticed...
The Olympics celebrations nearly had the best of me...
Not because I was out partying and enjoying it...
But rather because I cannot celebrate life...
The way that it would have been celebrated...
If Ella was with me physically still...

The countdown has begun...
And I can't do anything about it...

ELLA - Everyone Loves Little Angels

All The Way to Belfast

Some of you might have heard...
Or maybe even read...
That my little girl...
My vivacious, precious, little darling...
Will be in Northern Ireland...
In Belfast, more specifically...

You see...
On February 26...
Belfast celebrates...
Rare Disease Day...

Yes, I know...
Rare Disease Day...
Is really on February 28th...

But who celebrates at City Hall?...
On a Sunday of all days?...

So, all the way overseas...
Ella's story...
Will part of a day...
This Friday at noon...

To bring awareness...
And seek better screening...
For rare diseases...

But how can this be?...
I hear you ask...

Very simple...
Is my answer...

When your family...
Becomes part of the brotherhood...
And sisterhood...
Of rare diseases...

We all become related...
We are all friends...

And so for Ella...
This wonderful honour...
Came in the form of a request...

From a grand-dad...
Fighting to save...
His sweet grand-son...

A very brave young boy...
Cavan...

Afflicted by XLP and EVB/HLH...
Diseases with absolutely no other relation...
To Ella's own disease...
Than the fact that they are also...
Genetic...

Cavan fights...

As Ella always did...

Just like Ella's disease...
Cavan's is also rare...
So rare, in fact...
That only 1 in 100 families...
Have had such a diagnosis...

So on February 26...
Ella's spirit...
Will soar high...
And wide...
Over Belfast...

Shedding light...
And awareness...
On statitics...
She fell victim to...

An overwhelming...
75% of rare diseases...
Affect children...

And of those...
30%...
Will not live...
Beyond 5 years of age...

Almost all rare diseases...
Are incurable and...
More often than not...
Without effective treatment...

On February 26...
Ella will look after...
Cavan and his family...

Maybe even play a few tricks...
As she so loves...
To do to me... :)

All because...
Cavan's grand-dad...
Promised to celebrate...
The strongests of strongests...

Currently living...
With rare diseases...

And the bravests of bravests...
Who like Ella....
Could not beat the odds...

Cavan...
Ella & I send you...
Butterfly kisses...
And ladybugs hugs...

ELLA - Everyone Loves Little Angels

Prelude to Other Faces of PVNH

Since I learned of the diagnosis last October...
My mind has been in overdrive...
Overdrive to the 100th power actually...

It already had been in my ongoing research...
Since that one disease had been mentioned...
When Ella was hospitalized for the second time...
A year prior...

And so I went on...
Reading every paper I could find...
Every abstract...

Posting testimonials on web sites...
Researching late at night...
Sometimes all day...
Contacting rare organizations around the world...

But none of those efforts for answers...
Really brought me comfort...
On the other hand, they generally...
Got me even more frustrated...

That medicine...
As amazing as it is...
Has so many limitations...

When it comes to the identifying...
Managing...
And curing rare diseases...

So I took matters in my own hands...

Yes, I know...
I have control issues...

But sometimes, these types of unhealthy behaviours...
Actually are needed to move forward...

And then, it happened...
Out of blue...
I found a post...
From a mom speaking about her son living with PVNH...

In a moment of clarity...
I thought maybe?...
Maybe I can find her...

And I did...

I sent her a quick note...
Told her Ella's story...
And asked her if she would...
Share her own experience...

She immediately sent back an email...
To say sorry for my loss, and thank you...
To offer her family's story...
With regards to PVNH...

From the other side of the world...
And, as if offered as a gift from Heaven...
Came the news that she knew...
Several other PVNH families too...

And then I thought...
If I can't control the lack of information out there...
I can definitely impact what the useful information can be...
When it comes to PVNH...

Out of my personal dysfunction...
Came a Facebook group...
X-Linked Periventricular Heterotopia (PVNH)...

A group?...
Not really, it was just me & Ella...
Or so I thought...

But quickly there was one...
And then two...

By Christmas...
As many as 9 families had joined...
Because they knew...
As I did...
That Ella & I were not alone...
And that we would never be again...

In the next few days...
I will introduce to you...
To the other faces of PVNH...

The ones that help me keep my chin up...
And my faith unwaivered...

That one day...
One day, we will know...

How to better diagnose...
Manage the symptoms...
And hopefully cure PVNH...

ELLA - Everynone Loves Little Angels

The Faces of PVNH: Ella

So, now we know, It's called PVNH...
But really, what does that mean?

First, a name...
Periventricular Nodular Heterotopia...

Then, a lesson in medicine...
A rare disease characterised by some neurons taking a wrong turn and not ending in the proper location in the brain, causing some havoc along the way...

Passed on from mother to child, it is thought to be lethal early for males (future posts will show you this theory does not hold true anymore)....

This condition, like so many of the nearly 8,000 rare diseases identified, can also happen spontaneously - that is with no other family link found...

In medical litterature, PVNH is described as a disease associated with a mutation in the gene which produces a protein called Filamin A (FLNA), a binding protein....

To this day, our genetic team tells me that Ella's case was actually not a mutation but near complete or complete deletion of the gene...

This, as far as they know, has never been documented to date...

But I told you Ella was a zebra... And zebras are no horses...

So in true Ella fashion... Ella's symptoms did not really reflect the typical symptoms expected with this disease...

No delay... No seizures... No hyperflexible joints...

But there was a cardiac defect, something which helps put weigth on the PVNH diagnosis... And then, the neuronal migration defect was there too...

But the biggest symptom Ella had...
Cannot be explained clearly and definitely by PVNH...

To this day, it is impossible to confirm...
That Ella's PVNH caused her end-stage emphysema on both lungs...

And that, is the reality of rare diseases...

While I am blessed to have a diagnosis...
A luxury many families affected by rare diseases are not granted...
I continue to search for answers....

Answers on what happened to Ella...
Answers on what it means for my family...
The one Ella and I have...
And the one I am wishing to grow in her memory...

ELLA - Everyone Loves Little Angels

Ella The Zebra

Since October 2008, we've known...
Known that Ella was a zebra...
A little girl like no other...
Full of life and bright as the sun...

And though we tried our best...
We could not...
While she was alive...
Find out what was causing her illness...

And so, Ella lived...
On oxygen...
In the hospital...
For nearly 6 out of her 8 months of life...

And what a life!

Almost always a perfect smile...
Playful and loving...
Full of character...

Looking so happy...
And healthy on the outside...
You'd never think...
Her little lungs were destroyed...

But every once in a while...
There was a flash of fear...
Usually around the time...
She would start to truggle to breathe...

And so we learned to read the signs...
And manage the symptoms...
Of Ella the Zebra...
So she could live her life...
For as long as she could...

And though Ella lost the battle...
Her fight did not end...
On the contrary...
It is now stronger...
Stronger than ever...
Carried by her so large spririt...

It took a year...
To get to the elusive diagnosis...
But the one question remains...
Is this the only one...
The diagnosis that caused it all..

An with that...
the work is laid out...
For us, Ella's army...
To change the face...
Of rare diseases...
Starting with...
The one answer we have...
Called PVNH...

Ella - Everyone Loves Littles Angels

7 Weeks And Counting

It's been more than 7 weeks...
7 weeks and 4 days to be exact...

7 weeks and 4 days since I sat here...

And last journaled our journeys - mine and Ella's...

It was November 23, and I recounted...

The day we left BCCH after our 2nd stay...

The day in 2008 when our hope was big and grand...

As we prepared to take our baby home again...

That was 7 weeks and 4 days ago...

And so much has happened since...

7 weeks and 4 days of being back at work...

Even if more than half of that was only part-time...

A first Christmas... without Ella...

A first New Year... without Ella...

A brand new decade... without Ella...

A visit to Montreal...

My first since we took Ella...
To meet her families in October '08....

An emotional flight in, it was...

An entertaining flight back I had...

And quite a fun surprise for my familly I offered in between...

And such a blessing Ella gave me...

By showing me I needed to be with my family...

At this part of our journeys...

And then there is...

A larger bereavement group...

ELLA's bereavement group...

A fact I find so sad because I know...

I know the pain...

The pain that each parent of angels feels...

As they start down this dark journey...

They did not choose to be on...

And yet, it make me grateful...

That through Ella's journey...

Parents come together...

To support each other...

Then there is...
Another grouping of parents...

The X-linked PVNH group...

That Ella also brought together...

A group of parents so strong...

For their families are affected...

By that same rare disease...

That took Ella from us...

They chose to gather...

In one spot together...

To lend support...

And seek help...

And through it all...

I am learning...

Learning to take care of myself...

That I come first...

Back to yoga...

Added acunpunture...

And did I mention my Christmas Tree...

And Ella's Tree...

Are both still up...

Shining their brights lights...

Every night when I get home...

As I reflect on my last 7 weeks and 4 days...

And as I am told by my friends who've been by my side all along...

I know I am making progress...

At my pace...

On my terms...

As little...

Or as much...
As I can handle...

Honouring my daughter...

Thinking of new ways...

To pay it forward...

And living my life on purpose...

For as long as I live...

ELLA - Everyone Loves Little Angels