Calen-Deletion/Duplication Chromosome 19My name is Calen. I am 15 years old. My parent’s have many ridiculous nicknames for me, but I can best be described as fun loving fury. I have wide eyes, an infectious smile, and lady slayer blond hair, which come in handy because I like nothing better than to dance. Play me a beat and you won’t be able to resist bouncing around with me. I also happen to really like basketball, wrestling, monster trucks, splashing, trampolines, and roller coasters! Yup, I’m a bit of a dare devil!

Calen-Deletion/Duplication Chromosome 19

Calen-Deletion/Duplication Chromosome 19When I was born, doctors didn’t know what was “wrong” with me. I had low muscle tone and spent several days in the NICU. As I got older I struggled with severe respiratory and ear infections. I have had surgeries to correct strabismus and then later to remove my adenoids and tonsils for sleep apnea.

Calen-Deletion/Duplication Chromosome 19

I started having seizures when I was a year and a half. Doctors told my parents I would never walk. Countless tests always came back negative.

I was a mystery and it made my mom and dad really sad and angry.

Calen-Deletion/Duplication Chromosome 19

Calen-Deletion/Duplication Chromosome 19For 15 years, I have fought every day to share my endless joy with the world. I defied odds and took my first steps at age five. I no longer have seizures. Also, when I was eleven, doctors finally found an abnormality in my DNA, a significant deletion and duplication on chromosome 19. It would have been nice to find this out when I was born! It could have saved a lot of money and heartache.

Calen-Deletion/Duplication Chromosome 19

Calen-Deletion/Duplication Chromosome 19But the fight is not over. We have a finding, not a diagnosis. Thankfully, I have an awesome family and support network who love me and care for me. Together we will continue to fight for my rights, and my friends’ rights, for proper health services and a free appropriate public education. Fun loving fury… here we come!

and…the doctors told my parents I would never be able to walk. I bet I can make your day if you watch the link below!

https://www.facebook.com/TuteGenomics/videos/vb.337418673035365/706243109486251/?type=2&theater

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About the author

Gina

Gina began working tirelessly as an advocate for the rare and undiagnosed diseases community several years ago after her and her family moved to Utah. She is the Co-founder and Executive Director of the Rare and Undiagnosed Network (RUN), Chair of Utah Rare, and Utah Ambassador for National Organization on Rare Diseases (NORD).

Gina is currently undiagnosed and the mother of three children with an undiagnosed genetic dysfunction. She is advocating for clinical whole genome sequencing covered by insurance companies and hopes to help rare and undiagnosed families emotionally and financially.

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