My Daughter’s Rare Disease Was A Mystery For Years. Here’s How We Finally Got A Diagnosis.

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“’Give her time and she’ll surely catch up,’ they said. ‘She’ll be fine.’ … When Dalia was 9, she lost her ability to walk, talk, eat, and breathe without a ventilator.”

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.

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