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

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