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If you’re not a rare disease specialist, or among the 2 in 1,000,000 people afflicted with MERRF syndrome, I’m guessing you’ve never heard of my daughter’s illness.
I’d never heard of it either, until that snowy day, 12 years ago, when my husband, my father and I squeezed into a geneticist’s tiny office and he broke the news that would forever split our lives into a “before” and “after.”
“I’m afraid the blood test surfaced a diagnosis for your daughter,” the doctor began.
We’d been searching for a diagnosis for three years, ever since our daughter Dalia had been a toddler whose toddling never matured into an assured gait. We’d already been refused early intervention three times. “She’s on the lower end of average,” doctors told us. “Give her time and she’ll surely catch up,” they said. “She’ll be fine,” her pediatrician assured me, each of the 752 times I called. It must have been the 753rd time when he finally referred us to an audiologist.
That referral led us to the geneticist, who ended up delivering the information that changed our lives.
“Dalia tested positive for a genetic mutation that’s associated with myoclonic epilepsy with ragged red fibers, or MERRF syndrome ― an extremely rare form of mitochondrial disease,” the doctor said.
I had a vague recollection of mitochondria from ninth grade biology class, though I had no idea what they were or why we needed them. “What do the mitochondria do?” my father asked, swallowing audibly and putting his arm around me.
“Mitochondria are the powerhouse of the body’s cells, responsible for converting protein into energy,” the doctor said. “Every organ relies on mitochondria to function properly, so if your mitochondria aren’t working like they’re supposed to, your body can’t either.” He paused and took a deep breath. “There’s one other piece of information I need you to understand: This disease is degenerative, and there’s no cure.”
The room was silent. Each of us was lost in our own confusion. What the doctor told us made no sense. I couldn’t reconcile the black-and-white images on the diagrams he showed us with the full-color images of my daughter running through my head. Yes, I’d had a mother’s instinct that something wasn’t quite right with my child, but I thought a diagnosis would start a path to recovery, not predict a lifetime of loss.
We went home and made chicken nuggets and ice cream sundaes for dinner. We bathed Dalia and her two brothers, read bedtime stories and tucked them snuggly under their blankets. We lingered in Dalia’s room for another 30 minutes and marveled at how someone who looked so peaceful could be harboring something so scary. And then we started Googling.
I quickly read the first few articles I found, struggling to take in the range of symptoms that MERRF might present. It was a lot for one night, so I finally forced myself to shut down the computer. But the next morning, I began again. I studied medical journal entries and took note of the doctors who specialized in mitochondrial disease. I searched for clinical trials, for research labs, for any glimmer of hope that might help us.
That’s the thing about a rare disease. You fight for a diagnosis for years ― on average, according to Global Genes, it takes seeing 7.3 physicians and trying for 4.8 years before getting an accurate rare disease diagnosis ― and then, even once you know, you must continue being a detective as you try to piece together the clues as to how the illness might progress. You become an expert in a disease you wish you’d never heard of.
As a parent, you also quickly morph into a nurse, therapist, chief operating officer, educational advocate, cheerleader and warrior. You feel alone, because by definition, your child’s diagnosis is exceptional. And yet, 1 in 10 Americans and 300 million people globally are living with a rare disease.
You find community not just in other people who share the specific diagnosis your family is facing, but in those struggling with any rare diagnosis. It doesn’t matter what the exact symptoms or disease trajectory are. What matters is the shared understanding that your dreams as a parent have forever shifted. Instead of bonding with other parents on the sidelines of the soccer field or at the Girl Scouts meeting, you’re bonding over the exhaustion, the fear, and above all, the determination to give your children the most joyful childhood possible.
Together, you try to spread the word, not only about your children’s illnesses but about rare diseases in general. Because even though more than a quarter of neonatal intensive care deaths are caused by a rare disease, those conditions remain a mystery to most of us.
Why does that matter? Why do we want people to know about the very thing we wish we’d never experienced? It matters because knowledge leads to research and funding, advocacy and health equity. It matters because awareness leads to understanding and compassion. And it matters because things become less scary when they have a name, and less scary still when other people know that name.
Imagine if this Monday, Rare Disease Day, each of us learned a bit about just one rare disease. It probably wouldn’t change the trajectory for most of the people who are currently suffering, but it might help someone be diagnosed earlier. It might make us think about how accessible our workplace is, or encourage us to smile when we see someone who looks different instead of turning away. We’ve made leaps and bounds with awareness, research and treatment for AIDS, cancer and depression, all diseases that were once unknown ― and once known, often still unspoken or rarely spoken about. Now we must do the same for rare diseases ― and not just today, or this month.
When Dalia was 9, four years after her diagnosis, she lost her ability to walk, talk, eat, and breathe without a ventilator. Now she’s 16, and enrolled in a clinical trial that took more than a decade for us to find and enter. Awareness and action aren’t things that can be put on the back burner until more common illnesses are cured. We must do what we can today ― and every day moving forward.
My daughter has a disease that you’ve now heard of. And that’s a start.
Jessica Fein writes about raising a child with a rare disease and staying rooted when life tries to blow you down. She’s finishing her memoir, “BreathTaking: Rare Girl in a World of Love and Loss.” Jessica is on the board of Mitoaction and is the head of brand and creative for Bright Horizons. Connect with her on Instagram at @feinjessica for real talk about warrior moms.