Have you heard about Firefly products? They are truly amazing! We have been blessed to be able to test out the Playpak, Splashy, and Scooot! Talynn truly loves ALL of them! The Splashy is one of my favorites! Splashy is a portable bath seat for kids with disabilities. It allows Talynn to be in the water … Continue reading Firefly’s Amazing Products
Carrie’s Rare Disease Advocate Spotlight
Carrie Ostrea is a truly an amazing advocate not only for her daughters disease but many others. I met Carrie when I did my first Rare Round at Children's Hospital of Kings Daughters with Global Genes. At that time, Carrie was working with Global Genes and we chatted via email. This past February, I was … Continue reading Carrie’s Rare Disease Advocate Spotlight
Bohring-Opitz Syndrome Awareness Day
Thank you Little Four Eyes for sharing Talynn’s story and being #BOSAWARE !
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
View original post 85 more words
I AM. WE ARE. #BOSAWARE
I cannot begin to tell you how impressed I was to see all that were involved in the BOS Awareness Day on April 6th. So many people from around the world were #BOSAWARE! Bohring-Opitz Syndrome is growing. The number of patients has doubled in size since Talynn was diagnosed in 2015. It is increasing every … Continue reading I AM. WE ARE. #BOSAWARE
Awareness Day is April 6 : What Can I Do?
Original Blog can be found here. Thursday, April 6th is the 3rd annual Bohring-Opitz Syndrome (BOS) Awareness Day. The day of denim and gold was created to set aside a special time to celebrate and recognize those with BOS and their families. Many times we are asked, "What can I do to help?" Here are … Continue reading Awareness Day is April 6 : What Can I Do?
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.
Gathering to show support for small town girl!
In honor of Talynn, and all the other BOS Superheroes, we try to make BOS Awareness Day known in our small town. For the past two years, I have organized a casual event at a family owned restaurant on April 6th, BOS Awareness Day. I invite family and friends in our community by creating a … Continue reading Gathering to show support for small town girl!
The Mighty Magazine
I am excited to announce The Mighty Magazine chose to publish my blog "The Importance of Organization When Your Child Has a Rare Disease"!
Talynn Featured in Beyond the Diagnosis Art Exhibit
A few hours later, I received a phone call from Patricia Weltin from Rare Disease United informing me Talynn had been picked to be the face of Bohring-Opitz Syndrome.