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
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
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.
I am excited to announce The Mighty Magazine chose to publish my blog "The Importance of Organization When Your Child Has a Rare Disease"!
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.
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 !
At 7:17pm, Talynn Gurganus came into the world. I saw her for a brief second and then the nurses took her. She was blue, not breathing, not making any noises. I knew something was wrong. I was a wreck. I kept asking if Chad could be with her.
The day we were diagnosed with Bohring-Opitz Syndrome. This day will always have a special place in our hearts. The day we got an answer. The day we joined a family.
Having a child with a rare disease is a loving, caring, busy, never ending, supporting, advocating life. For my child, we have a primary care doctor, twelve specialists, four therapists, three nurses, two case managers, and the list continues. For most, managing this can be very difficult which is why organization is extremely important. Here are some of the ways I have learned to manage Talynn's care.
Talynn has been denied skilled nursing because Talynn's ADL needs and GI tube feedings can be delegated to a PNA (CNA). This means that Division of Medical Assistance (DMA) believes Talynn can be cared for by someone who cannot give medications nor administer or adjust oxygen. Respiratory is the leading cause of death for children living with Bohring-Opitz Syndrome.