Travelling the World

On Oct. 24, 2008...
Ella started to travel the world...

A hop on on a plane...
A stop in Winnipeg...
A much anticipated visit...
To meet her granpapa Kumar...
And her grandmamaman Kamla...
Her great-cousins and their families...

It was meant to be a month long trip...
Taking us...
From Winnipeg to Montréal...
To meet my side of the family...
And for me to enjoy my time off with my baby girl...

I still remember how Ella was quiet...
And happy, really...

While I stuggled to get answers...
For the problems I already knew we were facing....

Ella had gone in the day before...
For a second lung xray...
And by some stroke of luck...
Or rather what I call now...
Writing in the sky...
Ella was seen by the radiology technician....
Who had performed the first xray 10 days earlier..

And he remembered...
Ella...
My Ella...

Long story short...
There was indeed progress of the wrong kind...
In her little lungs...

And so I desperatly tried to get...
Radiology and paediatry to talk...
Even minutes before we boarded our plane...

Our flight took off...
With Ella in my arms...
Peaceful...

She fed...
And she slept...
In my arms...
And in her baby seat...

She played with my hair...
And smiled to flight attendants...
Oblivious to my worries...

Which came crashing in...
Minutes after we landed...

"Ms. Dupont, this is Dr. H...
We need you to come back to Vancouver...
To run further tests"...

As my heart sank...
I remember grabbing a pen and paper...
And noting on it...
A list of details...
I knew I needed to remember...
As my brain shut down...

My baby was sick...

I already knew it...
I could not prove it...
But my gut had yelled it...
From the day she was born...

I also clearly recall...
Asking Dr. H...
Who was requesting our immediate return...
If a couple of days would make a difference...

I had to take my girl...
To Montréal to meet my family...
Her family...

I did not know what the answer would be...
And I honestly can't say I would have listened...
Had the doc said don't go to Montréal...

It's as though I knew...
That it would be...
Ella's one and only...
Trip back East...

So we went to Montréal...
And when we arrived at my parents' place...
I was faced with telling Ella's other grandma...
Grand-maman Gigi...
My own maman...
And grand-papa Jacques...
That Ella was sick...
And that we would not stay...
As we had planned to...

Instead, we made the best...
Of the little time we had...

Ella met her cousins...
Samia and Renaud...
And she met my friend Anick...

She played with grand-maman Gigi...
She was photographed by grand-papa Jacques...
And actually was the superstar...
On a photo shoot...
Organized by her uncle Martin...

Ella also was pampered...
By aunty Marie-Claude...
To whom I later found out...
She gave a big scare...
Because of her laboured breathing...

The only ingredients missing...
Were my brother and his wife...
Who at the of our visit...
Were away on a trip...

It would have been a month...
Of time with family...
With friends...
With at least a visit to Québec City...
And another one to Ottawa...

It would have been enough time...
For Ella to meet her uncle Jacques-André...
And auntie Janic...

And then after that month...
Visits to Yellowknife...
And Trinidad...
Would have been complemented...
Possibly by a trip overseas...

At least that was the plan...

Fast forward 2 years...
And tomorrow, October 27th, 2010...
Will be 19 months...
Since I lost Ella...

And yet...
Ella has travelled the world...

Ella still travels the world...

Ella lives in the heart of friends in Ireland...
And Ella brigthens the days of moms in the UK...

Ella inspires families in the U.S....
And Ella shines in Germany...
As well as in many, many other locations...
Around the globe...

She has brought together...
Families from several countries...
Who just like ours...
Have a common diagnosis for this PVNH rare disease...

And so through her passing...
And in the mission she left me...

Ella not only travels the world...

But she lives in
British Columbia....
Québec...
Manitoba...
Ontario...
PEI...
Alberta...
Northwest Territories...
Trinidad...
USA...
Australia...
New Zealand...
Ireland...
Germany...
U.K....
France...
Belgium...
Austria...
South Africa...
Poland...

And Ella continues...
To travel the world....

ELLA - Everyone Loves Little Angels

Celebrating a Princess

In exactly 32 days...
I would have celebrated...
The life of a princess...
On your second birthday...

In exactly 32 days...
I am left instead...
With honouring...
Your second memorial birthday...

A day that would have included tiaras...
Dress up...
Pretty pink shoes...
Magic wands...
And likely a tea party...

Is now a day to fundraise...

Fundraise for families like ours...
Who have their world turned upside down...
When their child becomes ill...
And fights for life...

Fundraise in memory of an angel...
For families like mine...
Who just as I...
Never knew there was...
A rare disease...
Running through their blood...

Fundraise for moms and dads...
Who find themselves...
In a whirlwind of grief...
As parents without a living child...

In exactly 32 days...
I want to be having...
A princess party...
For my princess Ella...

In exactly 32 days...
I will...
Celebrate the life...
Of a princess...

My princess...

And in exactly 32 days...
I know that up in the sky...
Right there upon your cloud...

You will send me sunshine...
Songs...
And music...

You'll twirl for me...
Wearing your pink gown...
Pink slippers...
Your sweetest smile...

And of course, your princess tiara...

ELLA - Everyone 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

Looking for answers...

It's been nearly a year....

In fact, next Thursday, Oct. 8, will mark the one year anniversary of obvious physical signs that supported what already knew... That my daughter Ella was sick... and that I did not why or from what....

How ironic is it that on the day I was taking a second formal step in figuring out how I can give Ella a brother or sister, the dreaded news came.... The news I'd been longing for, formally for a year minus a week although I questioned it from the day she was born... and which in the last few days I had secretely wished would never comes as a formal diagnostic...

Today, hours after meeting with the counsellor that would "clear" me to become a mom again, I got the news... Ella had a disease... And that disease now has a name... A disease which I may have passed on to her... A disease which, clearer than ever now, would take her life... Ella was missing a very crucial gene and there is no way we could have ever predicted it... or even saved her...

One doctor called it... And yet it was not thought of as being a the real cause for her illess... And then a pathologist called it, and still it was not thought of as being THE diagnostic... I guess science does not lie as today, both a doctor and a pathologist were in my thoughts and in my heart as I heard the news....

Ella, my sweet, vivacious, bright as button and so happy and charismatic litte girl did not stand a chance... And now, I am faced with a whole lot more questions than I started my day with...

Did I pass this genetic disorder to her... Can it happen again.... Could the stress and discontent that was surrounding me during pregnancy and what should have been the best days of my life contribute to Ella's illness? Could a diagnostic last November have rendered a better quality of life for my angel for those few precious months she had with us? Was there TRULY nothing we could do to save her?

As I ponder on all of those questions tonight, I am in disbelief... Disbelief that such a perfect little girl, with a smile that lit the sky and eyes that saw right through your soul, could be striken with such a radical illness that it silently kills her from the inside out...

Ella, I know was here for a reason. She has taught me so many lessons - some I never wished to learn and did not have a choice to learn; and some that were repeated to me for years on end and I still did not get them until now...

And as I strive to honour Ella and do right by her, I am left wondering what the future holds and if I am right in thinking from the moment I realized something was off with my baby girl, that I did this do her, completely oblivious and unaware of it.... or if this was a fluke of nature that brought me my little angel to teach me a lesson and make everyone's lives around more meaningful because she was part of it...

I doubt I'll find out about most of those answers in this lifetime, and in the meantime I will hang on to the thought that my beautiful angel Ella will send me the next best thing to her resurecting: a beautiful and healthy rainbow baby....

ELLA
Everyone Loves Little Angels