All You Need

All you need...

Is love...
And hope...

Love for a little one...
Love for a bigger one...

Love for a sister...
Love for a brother...
For a son...
And a daugther...

Love for zebras...
Zebras like Ella...

All you need...
Is love...
And hope...

All you need...

Is people...
Who for some reason...
Believe in a cause...
And gather together...

Perhaps because they too...
Have seen loved ones...
Fight their way...

Against and through a system...
That is not built for them...
That has no room for them...
That plainly abandons them...

All you need...

Is a medical practionner...
Willing to listen...
To learn from you...
And fight with you...

All you need...

Is to find someone...
Only one...
A zebra...

Who just like you...
Thinks they are...
Alone...

All alone...

And although their diagnosis...
Might be completely unrelated to yours...
The reality is...
Your challenges are the same...

All you need...

Is to live...
On sheer determination...
On a quest...
For a connection...

A connection...
That you hope will come...
Before life decides it's too late...

All you need...

Is for your efforts to pay off...
For you to find that zebra...

All you need...

And all you can say...
Is thank you...
And bless you...

And together...
All you need...
Is hope...

Hope to find others...
Other zebras...
Different from you...
Or exactly like you...

Who are possibly one in a million...
Or may even be unique...

All you need...

Is to keep up hope...
that you are one of the few...
The ones we call: "lucky"...

Who find another...
Sharing the same rare disorder...
That afflicts them...

Although you could be thousands of miles apart...
Together you hope again..
To get a name...
Simply a name...
For the burden you carry...

And then you hope...
To be "lucky" again...
And find solutions...
For better management of symptoms...

But really...
All you need...

Is to be "lucky"...
"Lucky" enough...
To finally come across a cure...

A cure for a friend...
A cure for a mother...
A cure for your baby...

Now if you are like me...
Faced with a verdict that had no name...
No cure...
And was disabling your little girl...
One breath at a time...
Until it finally took her away...

You fight...
For a diagnosis...

You search...
For similar cases...

You research...
the silent killer...

You reach out...
To the world...

You vow...
To protect others...

By teaching...
The medical community...
About this disease...
That took Ella's life...

And then one day...
You cry...
As your first connection...
Brings on a flood of emotions...
And you realize you are not alone...

All you need...

Is to embrace...
The results of your quest...
And say thank you...
And bless you...

All you need...

Is to keep pushing forward....

All you need...

Is to love...
And to hope...

And continue...
To positively impact...
Those who like you are zebras...

Zebras like Ella...

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

The Faces Are Adding Up

Who knew?...
Who knew that my little angel...
Would drive me forward...
And give me the strength...

The strength to ge up...
Every day without her near me...

The strength to breathe...
In... and out...
Such a simple act...
Almost everyone takes for granted...

The strength to journal her journey...
The strength to reach out to others...

Some who like me...
Lost a piece of themselves...
Others who face...
The same disease she did...

And many more...
Afflicted by rare diseases...
All around the world...

I started my day today...
Reading an email from a mom...
Who as I did months ago...
And just as so many others parents have done...
Reached out...
Because her child has PVNH...

And with that note...
I discovered a new face...
A beautiful young new face...

A face that now...
Has joined the 14 others...
Who make up the families of this group...
For which I have such high hopes..

Hopes that research will answer...
Thousands of questions we each have...

Hopes that one day...
Children will be cured...

The faces of PVNH are finding Ella...
And finding me...
But they don't stop there...

These may be the faces of PVNH...
But they are joined by several others...

Faces of rare diseases...
Here, there and everywhere...

Faces of rare diseases...
Who have no link...
To our story...

And yet...
It's as though our stories are the same...

With those faces who you will soon meet...
Comes beautiful new friendships...
A gift I will be forever grateful for...

Who knew?...
I knew...

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 Face 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