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