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19q Duplication

When we decided to have our second child we went thought all the standard test, ultrasounds, and doctor appointments. It was a normal pregnancy and… Continue reading 19q Duplication

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19q Duplication

When we decided to have our second child we went thought all the standard test, ultrasounds, and doctor appointments. It was a normal pregnancy and… Continue reading 19q Duplication

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Hang in there, we got this!

For six years I noticed my inability to catch my breath worsening, my fingers changing colors, chronic reflux and problems swallowing. I saw specialists for… Continue reading Hang in there, we got this!

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Me and Gata2

My name is Becky and in 2015 I was told that I needed a stem cell transplant for a rare genetic mutation called GATA 2… Continue reading Me and Gata2

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Difference is beautiful

Being different is our normal. My 3 beautiful girls , Olivia 16, Sophie 14 & Evie 9 all have a defective Prmt7 gene. This was… Continue reading Difference is beautiful

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I am a Zebra and then Rare Disease Community is My Herd

My life changed in an instant. 32 years old, mom to 5 kids aged 2-13, business owner, married mom. Our newspaper business had just gotten… Continue reading I am a Zebra and then Rare Disease Community is My Herd

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Teacher with a Robot Leg

I was born missing my tibia in my right leg, so my leg was amputated when I was 16 months old. By the age of… Continue reading Teacher with a Robot Leg

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Elias’ Bladder Exstrophy Journey

My 12 month old son, Elias, was born with a complex birth defect called Bladder Exstrophy (BE). Along with the BE he was also born… Continue reading Elias’ Bladder Exstrophy Journey

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Kicking HD In the butt

I was born 10 weeks early and I was diagnosed with Hirschsprung Disease at 3 days old. I was given a colostomy bag and everything… Continue reading Kicking HD In the butt

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