Understanding
Okur-Chung Neurodevelopmental Syndrome
Unique as a Snowflake
2023 Rare Disease Day Reflection
When I look at snowflakes, I notice how beautiful they are.... all so unique, and all so different. Different shapes, different sizes, fluffy ones, tiny ones, intricate ones, to simple ones. A snowflake is unique because its shape evolves as it journeys through the air; no two will ever be the same. Even two flakes floating side by side will each be blown through different levels of humidity and vapor to create a shape that is truly unique.
Harper and her syndrome, Okur-Chung Neurodevelopmental Syndrome, remind me a lot of a snowflake.
When considering uniqueness, not only is Harper unique and not like any other child I have ever met, but she is also just as unique to other children who also have Okur-Chung Neurodevelopmental Syndrome. Right now there are only 200 kids IN THE WORLD, who have Harper's syndrome caused by a mutation in the CSNK2A1 gene. Harper is rare, Harper is unique!
My little snowflake loves shiny objects, candy, she bounces and skips around-hence her nickname, hippity hop, she loves speed and thrills, her heart is full of love and she's so caring for others, she uses a communication device to talk, she is scared of hand dryers in restrooms, she is stubborn and strong-willed, she has trouble falling asleep at night, she is in the 6th grade but can't read or write, she stems by flapping her hands when she's excited, she loves outdoor adventures like hiking and skiing, she loves her friends, her smile is infectious, and she's pure JOY to be around! Harper is rare, Harper is unique!
The CSNK2A1 community continues to evolve as others share acceptance and awareness. So just as a snowflake, Harper will continue to evolve, be unique, and beautiful. ❄️❄️❄️�55358;�56589;�55358;�56589;�55358;�56589;❄️❄️❄️
By Amber Reynolds
Harper and her syndrome, Okur-Chung Neurodevelopmental Syndrome, remind me a lot of a snowflake.
When considering uniqueness, not only is Harper unique and not like any other child I have ever met, but she is also just as unique to other children who also have Okur-Chung Neurodevelopmental Syndrome. Right now there are only 200 kids IN THE WORLD, who have Harper's syndrome caused by a mutation in the CSNK2A1 gene. Harper is rare, Harper is unique!
My little snowflake loves shiny objects, candy, she bounces and skips around-hence her nickname, hippity hop, she loves speed and thrills, her heart is full of love and she's so caring for others, she uses a communication device to talk, she is scared of hand dryers in restrooms, she is stubborn and strong-willed, she has trouble falling asleep at night, she is in the 6th grade but can't read or write, she stems by flapping her hands when she's excited, she loves outdoor adventures like hiking and skiing, she loves her friends, her smile is infectious, and she's pure JOY to be around! Harper is rare, Harper is unique!
The CSNK2A1 community continues to evolve as others share acceptance and awareness. So just as a snowflake, Harper will continue to evolve, be unique, and beautiful. ❄️❄️❄️�55358;�56589;�55358;�56589;�55358;�56589;❄️❄️❄️
#beunique #uniqueasasnowflake #rare #raresyndromeday #csnk2a1 #okurchungneurodevelopmentalsyndrome