Three years ago today, 2 days after her second birthday, Mabel was officially diagnosed with Batten Disease.
On the phone that day I was told Mabel's diagnosis was 'terminal.' I also learned that day that batten disease would take all of the skills from her that she had gained, which weren't many to begin with. That her seizures would only get worse. That her brain would continue to shrink until it basically became non existent. I learned that what vision she did have, she would lose. I learned that she would probably lose the ability to swallow and most likely her ability to smile and that ultimately, batten disease would take her life between the ages of 4 and 6 years old.
Mabel lived to be 4 years and 10 months old; the statistic ringing out a staggering truth over our lives.
Batten Disease did all of the things that were promised to me that day on the phone except for one.
At the time of that call, Mabel had learned to sit independently for moments at a time but lost that ability just months later. She was eating during speech therapy and a little here and there when we would try, but she soon stopped trying herself.
She could 'see' us some days but some days not at all.
She became weak, frail, and seized almost constantly until the last twelve weeks of her life.
As I prayed from July 18, 2012 forward, she NEVER lost the ability to smile.
To the very end, she felt emotion and she showed it.
Batten Disease did not take Mabel's smile and that is our victory, and the sweetest.
Batten Disease is 1 of approximately 50 lysosomal storage disorders, meaning essentially that a genetic mutation disrupts the cells ability to get rid of waste. Almost like a garbage truck that fills up but never stops to dump it's load of trash so it continues to pile and pile and pile.
With batten disease, cells are thrown out of balance with the build up of proteins and fats. This affects the brain, the eyes, the muscles, speech and many other functioning parts of the body.
There are four main types of batten disease.
Infantile, late infantile, juvenile and adult onset.
There are variants to most of these types.
Even still, with every known gene being tested in Mabel, no exact type was ever discovered. Even to her death, she was still such a mystery. Though we know she had batten disease, we were left with the question of 'what gene was affected?'
I'm writing this today because it's important.
As always, what we do not know about, we can not understand.
Two days before Mabel died, a researcher from Children's Hospital of Philadelphia called me and was interested in 'her case.' This was ironic to me, as I knew she was dying and we had been waiting a very long time for someone to come along for the sake of science and medicine and dig in to figuring this out for us. After all, Mabel could easily hold the key to a gene that has yet to be discovered and what if-just what if that gene could be named for her?
I told him our situation, that our sweet girl was dying and he was more than kind.
I told him, of course I wanted to pursue figuring this out, if that was an option and that meant only if we had blood or DNA stored somewhere from previous testing. He would look into it for me and let me know.
I had the pleasure of meeting that researcher at the batten disease conference last weekend (more about that to come in a future post), and he was incredibly empathetic and genuine.
He was also young, exuberant and interested.
We are hopeful that what is meant to be known, would be brought to light and what is meant to be unknown would remain that way.
I am at peace either way.
Three years ago today I remember writing my post and typing out the words,
"My daughter has a rare disease."
Today I am typing out the words...
"...and it took her life."
Research requires funding. Funding requires interest. Interest requires love, compassion, empathy.
You've been so good to our family.
Please just look at her face and never forget. There are so many more children like her.
And though Heaven was her perfect reward, these children deserve to live a life free of suffering.
Today is Diagnosis Day.
Today was the day that after months of searching, pleading, grieving, and wrestling with anyone who would listen, I found peace. Though I knew she would not live, I also knew that I was free to live a life with her where her care and comfort were most important.
I learned to simultaneously despise a disease that raged within her and love every single little piece of her. After diagnosis day, 2012, I never really saw batten disease. I just saw Mabel for who she was really created to be. That just happened to include a lot of really hard stuff.
I am so thankful that she is free from this world, and her disease but oh I miss her so.
She was not made for here.
His peace surpasses my total understanding.
He is so good and His love endures.
For more information on batten disease or to donate in Mabel's honor, please visit