Our four-year-old daughter, Sophie, is full of personality; so much sass in such a tiny little girl! She's strong and independent, always insisting that she do things "all by myself." She loves to dance and play with her big brothers. And when she grows up she wants to be a ballerina dinosaur. She's silly and giggly and fierce.
A week after Sophie was diagnosed with NF1 we found ourselves running down Folly Beach in our underwear. The next event in our community listed on the CTF calendar after we got her results was Cupids Undie Run. So there we were, still not even really understanding what NF was or what it meant, but we had to do something!
Austin was diagnosed with neurofibromatosis type 1 around 6 months old. He had cafe au lait spots and swelling on the right side of his face. Even though I have NF, we were told there was a less than 5 percent chance it would get passed down. He was getting an MRI and, by chance, the anesthesia department was having issues getting the breathing tube down. They called the doctor in charge in the oncology department, who, also by chance, was an NF specialist. That was how he was diagnosed.
By Kelly Carpenter
As the youngest of 3 boys, Travis’ biggest concerns should have been keeping up with his brothers and what games they could play. As parents, our biggest concern should have been that we were outnumbered...3 kids to 2 parents. However, life brought a different set of challenges. Travis' first café au lait spots appeared shortly before 4 months of age and the NF1 diagnosis by our pediatrician followed at 6 months. To see his medical issues on paper, you would never guess how well he functions in the world. His spirit remains positive throughout all the challenges he faces due to NF.
Shining a Light on NF is more than buildings and bridges glowing in blue and green, it's also a wonderful opportunity to raise awareness through billboards, posters, and digital signage! We thank our partners across the country for donating space and time during NF Awareness Month:
On May 1, 2017, an international consortium of clinicians and scientists from multiple disciplines met in Toronto, Canada to officially launch the Synodos for Schwannomatosis project. Led by Dr. Gelareh Zadeh from University of Toronto and Dr. Laura Papi from University of Florence, Italy, the project aims to perform an extensive molecular analysis of schwannomatosis tumor samples to identify new therapeutic targets, and advance the understanding and management of the disease, with special focus on pain.