Rare Disease Awareness Day is a day that calls attention to diseases that rock people’s worlds but aren’t prevalent enough to be tied to their own colors, ribbons, or days. It’s intended to spread awareness, but it also serves as a reminder to all to be kind—because we never know what another is facing.
Rare diseases affect about 4% of the world’s population. To put that in perspective, that’s about 86 of every 100,000 people in America.
One of those affected is my Gracie girl. Her disease doesn’t define her, but it has redefined every aspect of her life.
Gracie was born happy and healthy—or so we thought. She had nine “neurotypical” years, before inexplicably becoming ill. Her symptoms were progressive. First, her behavior became erratic and her speech regressed to baby talk. Next, her memory began failing and her movements turned uncontrolled. Then she began violently seizing and hallucinating. Finally, she began experiencing periods of non-responsiveness, known as catatonia. Ultimately, she lost the losing the ability to swallow, talk and walk.
Test after test was run, without answers.
Doctors were at a loss.
Finally, after a year of suffering and tireless searching, an answer was found.
Her diagnosis was Autoimmune Encephalitis, a disease in which the immune system mistakenly attacks healthy brain cells, creating inflammation of the brain. Her doctor described it as “her brain on fire.” A diagnosis helped us make sense of the physical symptoms, but it did not ease the burden of her suffering.
Naively, we thought with a diagnosis treatment and remission would swiftly follow. What we didn’t know is rare meant there was no roadmap.
Rare meant hearing conflicting opinions, fighting for care, then having to fight for coverage, too.
Rare meant this mama had to be more than a caretaker. She had to be a researcher, a relentless advocate, and a fortune-teller.
I exaggerate a bit on the last one, but as often as I was asked to see into the future I’m not exaggerating much.
Research yielded a couple of treatment options for us to choose from. Some felt conservative, others seemed extreme. No two doctors could agree on which was right. And while we weighed our options, she deteriorated.
Finally, a decision was made: plasmapheresis.
We’d put two lines in her neck. One to take blood out of her body and one to return it once a machine spun antibodies off it.
We had our peace.
Then, the hospital administration weighed in, calling the procedure “too great of a risk for unknown benefits.”
I vividly remember sitting face-to-face with administrators, pleading.
I told them to look at things from where I sat.
I told them to picture three kids on the edge of a cliff, waiting to zipline. Then I shared that only two would make it across. I asked if they’d send any? Unequivocally the answer no.
Then I told them to pretend the side they were standing on was on fire. Suddenly they said they’d send them all.
As I explained, that’s where my girl was. I didn’t know that plasmapheresis would carry her. But I knew certain death, a slow and painful one was all that awaited her where we were.
We moved forward.
But it never should have come to that.
In the end, plasmapheresis didn’t save her, but it bought us more time to figure out our next steps. And in that time, more doctors came on board to fight.
In time, we learned that chemo would be needed to stop the attack on her brain, and monthly transfusions of blood products would then be needed to keep her in remission. Rehab, to remap the brain would have to follow.
And from this, we learned insurance companies love to fight.
They told us no. It was denied “because she could move from her wheelchair to a toilet unassisted.” It didn’t matter that doctors believed she could walk again; to them, “good enough” was good enough.
Three appeals and a month in the hospital later, a hard no followed.
Through tears, I told the doctor delivering the news she would have to tell my girl nobody believed she was worth the fight.
She surprised me and said, “I believe she is.” And without insurance approval, she still delivered the care my girl needed.
And true to Gracie’s commitment, she walked out of that hospital two weeks later.
Nothing about a rare disease is simple. Not its diagnosis, not its treatment, not its impact on one’s quality of life of its prognosis.
Living with a rare disease is a two-fold fight. One of daily struggle and one for sustainability. And those with rare diseases, particularly children, are heroes without capes.
My Gracie is so much more than her rare disease.
But it has made her resilient, courageous and stronger than I will ever be.