Thursday, February 28, 2013

World Rare Disease Day 2013

Happy World Rare Disease Day!
 It's strange that I can start the above sentence with the word "happy," isn't it?  But let me assure you, there is a whole lot of happy wrapped up in this world.  
 Last year when I wrote my post on this day I had no scientific proof that our daughter was living with a rare disease, only heart proof.  I had done the research, sought out the doctors, grieved the grief and sat at this computer knowing that our daughter was not only living with a rare disease but that she was probably going to die from it.  All that was left for me to know was the name of the thief who would likely steal our daughter's life.  
 Mabel was diagnosed with Batten Disease in July of 2012.  
Batten Disease is considered rare although statistically speaking we are told that the disease is present in every 2-4 out of 100,000 births.  

To be classified as a 'rare disease,' less than 200,000 people in the US must be affected.  Right now, Batten Disease affects approximately 500 people worldwide.   
 There are four main types of Batten Disease.  Mabel's form is, at this time, unknown.  
What the doctors do know is that her form is aggressive.  They know this because the process happening in Mabel's brain is evident by it's 'atrophy' or shrinking.  Essentially Batten disease causes a buildup of fats and proteins in Mabel's brain that her body cannot get rid of.  This causes almost constant seizure activity and what the medical world refers to as "severe mental retardation."

  This buildup happens in other areas of her body as well such as her eyes (causing blindness), her skin (causing inability to absorb nutrients correctly), her muscles (causing weakness, uncontrolled jerking and rigidity) and several other tissues.  
 Because the brain controls every other organ and function in our bodies, Mabel is unable to do several other things.  Her disease causes the inability to eat and swallow correctly.  Because her body cannot absorb proper nutrients she is unable to grow properly.  She doesn't have the ability to poop on her own because she lacks the amount of strength to do so but also because, we assume, her brain doesn't communicate well with her bowels.
 For a short time in her life Mabel gained some exciting skills.  She started to reach for toys but eventually regressed and lost that skill.  She rolled over for a short period of time but abruptly stopped doing that as well.  There are days when her body will not allow her to sit up and she is still as floppy as a newborn baby. The one skill that Mabel has that we pray she keeps is to smile.  
 Batten disease causes an intense 'neuro cry' in Mabel.  There are days when she cries from the time she wakes up until the time she goes to bed, if she goes to sleep.  

She is on several seizure medications to help control her body's movements but even just recently we have noticed new changes.  This is very typical of the disease.  Things can happen rapidly.
- There are currently approximately 7,000 Rare Diseases and disorders with more being discovered each day.  This means that if everyone with a Rare Disease lived in one country, it would be the 3rd largest.  

- 1 in 10 Americans is living with or affected by Rare Disease.

- 80% of Rare Diseases are genetic in origin.  
Mabel's Disease is. 
In order for Batten Disease to be present in Mabel, Daniel and I had to carry the exact same defective gene.  
Approximately half of people living with a Rare Disease are children.
30% of them will not live to see their 5th birthday.

Mabel's prognosis is just that.
95% of Rare Diseases have no FDA approved treatment.  In fact, few drug companies conduct any type of research into Rare Disease since it is difficult to recover the costs of developing treatments for such a 'small population.'  

Essentially, politics and money are standing in the way of the potential to save Mabel's life and the lives of thousands of other people.
Seeing her, hearing this, knowing it and believing that it's wrong has spurred me to act.  
It feels big.  It feels hopeless.  But it is also unjust.
 God tells us to seek justice and love mercy.  
For Mabel, we are joining forces with several other people who desire to give a face to the names of these diseases in order to give HOPE.
It is only practical to know that in Mabel's lifetime there will not be a cure for Batten Disease.  But that is not to say that we shouldn't do all that we can in order for children in the future to be able to live disease-free.  

In this world of medicine, research and science so many things go on that I struggle with ethically.  
However, these are the things that are sometimes necessary in order to bring hope to dying children.  
Rare Disease Day is dear to my heart for so many reasons.  Mabel is not the only child in this world that I love.  
All of the children with Batten Disease, of course, hold such a dear place in my heart.  It's kindred.  I know how their mommy's must feel and I relate to what is happening in the lives of their children.  But beyond batten disease there are several children whose lives have enhanced mine.
They all have names.  
They all have birthdays.  They all have siblings, aunts, grandparents, pets, and friends who adore them.  They all have life and most will lose it at some point to this awful thing; Rare Disease.

And yet, in the midst of it's wretchedness, there is so much great HOPE among us.  
Rare Disease has brought me together with the strongest, most beautiful people I have ever met.  And in that, I have never felt more grateful or blessed.
"Mabel's Able" was born to bring awareness of Rare Disease throughout the entire year and not just on this day.  In this category we also include children who are 'undiagnosed.'  Most of them show symptoms of a Rare Disease and science just hasn't caught up to them yet to give them a name for those symptoms.  

We haven't forgotten about these children because for 2 years, Mabel was one of them.  There was no name.  No answers and very little HOPE.  But let me assure you--you are not alone.  
Beyond a name, there truly is hope.  
We are here for you.
What can you do today?
You can share Mabel with someone that you know or someone that you meet.  Go ahead!  
Share my blog, "Mabel's Able" on facebook or www.BDSRA.org to tell them about Batten Disease.  

You can visit the Global Genes Project on Facebook.
You can hashtag photos of you in your jeans on instagram #mabelsable or #jeansforgenes.

Today you can spread the word about Rare Disease simply by praying for Mabel and loving her.
However you feel is best, do that and that will be enough.  
Most of all I just ask that you not forget.  
I ask you to wake up every day and to think of her face.  Don't get complacent in life and always remember that no one is exempt.  This life is not a punishment; it is a gift but anyone could be in this situation at any time. 

Don't live in fear of that.  Embrace the beauty of this journey with me.  
I ask that you look at her and you just don't forget.
We have chosen to share Mabel with the world because we know God gifted her here for a purpose.  We believe He created her perfectly and that His plan is being carried out in a way that is only for Him to know.  We believe that in this suffering is so much good.  She is teaching us and the world how to look past the things that we view as 'typical' and see a world that is full of such pure and perfect beauty.  There is a hidden joy buried there and my true HOPE is that you not only see it, but feel it today.  
So, again I say...
Happy World Rare Disease Day.
HOPE is in our Genes!

4 comments:

Tina said...

Precious girl.

Karren said...

Hi, I'm a new follower. My two year old son also has a rare genetic disease.. He has tuberous sclerosis complex.

Daniela Borges said...

I'll never forget her face.

Daniela Borges said...

I'll never forget her face