One In Fifteen: My Story

I was born at 24 weeks - weighing under a pound and was only 8 inches long. My parents were told I wouldn’t survive more than a few hours - but I did.

Spending 4 months in the NICU

They were told I’d never walk, talk, and have cerebral palsy. During my time in the NICU, I had 2 surgeries on my retinas because I had retinopathy of prematurity. I spent the first 4 months of my life in the NICU but was eventually released into my parents care.

Beating the odds

However, as I grew up, I beat the odds and did everything doctors said I wouldn’t (although I did have developmental delays: I didn’t walk until I was well past 3 years old).

In 2018 (at 22), I started suddenly having seizures, but since the 3rd day, my EEG was normal. The neurologist said they were “pseudo-seizures.”

In 2020, I started having worsening vision problems but ophthalmology kept saying “nothing to worry about.”

In 2022, I finally got into a specialty eye clinic that concluded that I had moderate to severe vision loss with an unknown cause.

A rare genetic sequencing

In 2025, I had whole exome sequencing, which showed I have a single LETM1 mutation. The genetic counselor told me that I am 1 of 15 other families in the world with this specific mutation and I’m the only one that’s over 18 years old.

LETM1 is linked to Wolf-Hirschhorn Syndrome - which I have some symptoms of (seizures, vision loss, developmental delays) - but I don’t have the features of the full syndrome.

I am currently trying to get into the Undiagnosed Diseases Network (ran by Harvard) to see if my single LETM1 mutation is causing more problems (mitochondrial dysfunction, kidney problems, etc).