“We Had No Idea” by Amber Reynolds


We Had No Idea

Rare Disease Day Reflection from a Rare Warrior Mama, Amber Reynolds:

When Harper was born we had no idea about genetic diseases, developmental disabilities, and that sometimes “healthy” babies have underlying problems that show up well after birth.

We had no idea that 9 months later our lives would be turned upside down, never to be the same again.

We had no idea that we would spend 6 years, hundreds of late night hours on google, endless appointments with specialists, and thousands of dollars searching for an answer.

We had no idea that we would eventually find the answer we were praying for across the United States, by two geneticists, Dr. Okur and Dr. Chung, working at Columbia University. We never thought we would have the opportunity to meet these two heroes and other families with the same rare genetic syndrome!

We had no idea we would find solace in a small, but mighty, group of families from across the globe, speaking many languages, but finding common ground because of one single tiny gene.

And we had no idea that it would be so exciting to learn about lab studies with mice and genetics, and a bunch of other words we can’t even pronounce.

But mostly, when Harper was born, we had no idea what a wild ride she would take us on, the incredible people we would meet along the way, and the life changing perspective we would be given because of my opportunity to parent a child with special needs.

There are many days we may curse her rare disease, but there are even more days that we thank God for it, CSNK2a1 has been a blessing and has changed our lives for the better.

#csnk2a1 #okurchung #okurchungneurodevelopmentalsyndrome #ocnds #careaboutrare #rarediseaseday


  1. Me siento tan identificada….mí hija Juana nacida el 7 de noviembre de 2006 también tiene el síndrome y lo descubrimos el año pasado, en agosto. Es una bendición mí hija? Lo es!!! Pronto contaré su historia, creo que recién ahora estoy teniendo el coraje y la fuerza de compartir, y ustedes cómo fundación y grupo ayudan muchísimo! Muchas gracias y cono le dije a la genetista…. Juana tiene la mamá que necesita y esa soy yo ❤️

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