Bohring-Opitz Syndrome Awareness Day

Thank you Little Four Eyes for sharing Talynn’s story and being #BOSAWARE !

Little Four Eyes

Today, April 6, is Bohring-Opitz Syndrome Awareness Day.  Bohring-Opitz Syndrome is a rare genetic syndrome, with myopia being one of the common features of the syndrome.  You can read more here.

Two years ago, Chad and Taylor shared the story of their daughter Talynn who has Bohring-Opitz Syndrome.  They’ve sent an update and some photos of how Talynn is doing and in particular, her vision and how she’s been doing with her glasses. Many thanks, again to Chad and Taylor.  – Ann Z

@talynnsjourney

A couple years ago, Talynn Gurganus was featured on Little Four Eyes Blog. At that time she was a little over a year old. We had just gone through the unknown of not having a diagnosis but yet knowing something wasn’t right. She was in the hospital every month.
At 10 months old, Talynn was clinically diagnosed with Bohring-Opitz Syndrome (BOS). We researched symptoms and found…

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Ultra-Rare Syndrome Celebrates It’s Day in the Spotlight

Orlando, Florida (April 3, 2017) This year marks the third annual Bohring-Opitz Syndrome (BOS) Awareness Day. On April 6th, people from around the world will shine the spotlight on this rare disorder by wearing denim and gold, along with other awareness events. BOS is an ultra-rare genetic syndrome with less than 60 documented cases in medical literature as of 2015. This number is now estimated to be closer to 85 among parent advocacy groups, as new diagnoses are being made through more advanced and available genetic testing. It wasn’t until 2011 that researchers were able to identify BOS was a result of a mutation on the ASXL1 gene.

AHCA Threatens My Medically Fragile Child’s Life

Families like the Gurganus’ would be significantly impacted if federal Medicaid funds were capped. Under a capped system, states would have a maximum amount to spend on Medicaid recipients like Talynn. The maximum amount would quickly be reached while care and services would still be needed; the state of North Carolina would need to find the funds in the state budget to cover these costs or they would fall back on the Gurganus family.

Talynn’s New Car

For Talynn's third birthday, I wanted her to have something that most "typical" children have. Two of my friends, Sarah Halstead and Carrie Hunsucker, had just purchased/received an adapted car for their children. I immediately knew I wanted Talynn to have one. I started researching all the different types. I needed something with a higher back and remote control. Well I found it !