Friday, February 28, 2014

Rare Disease Day 2014

Happy World Rare Disease Day!
This is the day when I feel most compelled to celebrate my girl in all of her unique and rare beauty.
We have 'celebrated' this day for 3 years now.  The first year Mabel was undiagnosed but I was very certain that something more complex was happening inside of her little body.  Last year we had received a diagnosis 7 months prior to this day.  And this year, we are more immersed in the knowledge of rare disease than ever before, particularly batten disease. 
And although we know alot, unfortunately we do not know everything.  In fact, I got a phone call a couple of weeks ago from our beloved Dr. S saying that all of the known genes associated with batten disease have been officially tested in Mabel and none of them are abnormal.  That doesn't mean that she doesn't have batten disease.  That just means that research hasn't caught up to the very complex structure of my girl's little bitty body.  

Speaking of research, that is key purpose of this day, I believe, second only to celebrating life in all forms.  Research is lacking in the rare disease community and although great strides are being made every single day, it's just not enough.  Not yet.
There are wonderful people working day in and day out to spread the word and make changes in legislation so that our loved ones living with rare diseases and syndromes can have hope of treatments and hope of cures.  These individuals are pioneers and I know deep in my heart that one day soon, their hard work and dedication will make a significant difference. 
But for today, February 28th, 2014, we are still very far from that reality.  
Did you know that 95% of rare diseases have not one FDA approved drug treatment?
For us that simply means that we can try really hard to treat Mabel's individual symptoms but ultimately there is not one thing we can do about her disease as a whole.  Likely in her lifetime we will not see such a treatment, although I do believe it is coming. 
What makes things even more difficult for Mabel and for our family is that because they cannot pinpoint the exact gene that is affected, replacing that gene in any way is essentially impossible.  There are always a million broken bridges to cross before reaching a safe and secure 'other side' in this world of rare disease, it seems. 
80% of rare diseases are genetic in origin, meaning, essentially that the 'problem' lies in the genetic make up of a person.

Mabel will be 4 years old in July.  Because her symptoms started weeks after her birth, the specialists believe that she likely has an infantile form of her disease.  The prognosis for such is 4-6 years of age. 
50% of people affected by a rare disease are children.
30% of those children will not live to see their 5th birthday. 
So as 'rare' as my girl is...she is actually very typical in her own little community. 
Which in some oddly twisted way brings me comfort, even still.
On this day each year I choose to write the statistics here because throughout the other days that make up our life I try very hard to just chronicle her life as hers and mine as mine and ours as ours. 
Mabel has a disease, yes.  It has a name, yes.
But batten disease is only part of the bigger picture here.  I don't see it every time I look at her, every time I bathe her.  I don't see it when I'm dancing with her or feeding her.  I don't see it in the car when we are driving or when she giggles as the music plays through our home. 
I only see my Mabel girl.
Beautiful.  Pure.  Rare.  But Able.

What I have found in the rare disease community is a brand of hope that is unlike another.  It is deep and thick and powerful.  There are mothers who are ferocious, fathers who are compassionate, siblings who are gentle and incredibly wise and complete strangers who are altogether helpful.  There is something about this united community that goes far beyond anything I've ever known and that is undeniably:
There are approximately 7,000 rare diseases and in the U.S. about 10% of our population is living with one.  Those are only the diseases and syndromes that are known and discovered and do not include those suffering with symptoms that simply don't have a name.  
I searched so hard and so long to find out what was causing my girl to have nearly constant seizure activity, rigid movements and jerking of her muscles, the inability to eat or swallow correctly, loss of vision and to stay at the developmental level of a 2 month old.  It took many months, several doctors, and a very determined heart to seek answers for my daughter.

What I found far beyond a name was nothing. 
A black hole of utter nothingness. 
Nothing changed.  Nothing new was offered.  No medical hope was given.
Somehow, although I could put a name to the face of the horrid disease ailing my girl, I still couldn't help her in any significant way.  
And that is why today is so completely important.
This is the face of a little girl whose life will end far before it should have to because we just don't have the funding or the research that will help sustain her. 
And she deserves saving.

The Global Genes Project ( is a wonderful and powerful resource for learning more about rare diseases and how to help. 
{ And Mabel's photo is even featured several times on their website. }

Today I woke up and I wanted to accurately explain all the important parts of what makes up a worldwide day of awareness like today.  But quite truthfully, I cannot.  I have read other amazing articles written by mothers, who are my friends, who are both caring for children who are living with rare disease like Mabel and others who have lost their child far too early.  The message is unified:
Let's not forget the rare.  Let's continue to work together to find a cure.
Let's hold out hope that our country, our world, and the medical systems that we are a part of can be changed and that there is hope.
Today, on this Rare Disease Day 2014, I have asked that everyone who loves my girl "wear jeans for genes" or "wear that you care."
Rare is everywhere and unity creates hope. 
"Mabel's Able" was created years ago with the sole idea that 'together we are Able.' 
I know that we still are.  I know that she is. 
Although we are rare, there is always hope.
And together we are more than Able.
Happy Day, little girl. 
You are my world. 
To read more from a couple rare mom's visit: (Jenny's daughter Celia died at age 4, batten disease)

1 comment:

Wendy said...

Just wanted to say a big THANK YOU for writing this blog. I found it a month? or so ago and I've enjoyed your insights and faith so much.

My own sweet girl Kate, who is also the youngest of three (We have a boy(5) and a girl(nearly 3) and Kate is 1.), has two gene alterations that no one else (on file) has yet. She's had quite a first year...we almost lost her over New Years bc of GI issues. (And that wasn't the first time.)

She is extremely fragile, but also strong. And although a lot of this is awful to go through for her and us, she has brought so much light with her and has been such an influence for good in our family.

Thank you for making me feel less alone in this journey with so many unknowns. Mabel is beautiful, as are your other two kids. Happy Rare Disease Day!