Guess who showed up via email, blog and Facebook today? I kicked off the Patient Stories today leading up to the World RARE Disease Day!
PATIENT STORIES OF HOPE AND INSPIRATION – ‘Meet Peyton!’
Peyton isn’t that much different than any other four year old if you ask her. She loves to color and dance and she is a ‘Yo Gabba Gabba’ fanatic. Luckily, she is still blissfully unaware of the stares directed her way when we go to the grocery store or the playground. Peyton was born with Nager Syndrome, a very rare condition that results in craniofacial and upper extremity anomalies. As a result of her lower jaw not developing fully, she underwent a tracheostomy at 3 days old to breathe and a gastrostomy at 3 weeks old to eat. She has severe bilateral hearing loss and has been wearing hearing aids since she was a few months old. She has had two jaw distractions and three hand surgeries. Her life has been filled with xrays, CT scans, doctor appointments, hospitalizations and therapy sessions.
Despite the rarity of Nager Syndrome, with the internet we were able to learn much more in the first few days of her life than what the hospital could provide from their outdated genetics books. We have been able to reach out to other families whose children have Nager Syndrome and have even met a few in person. We are blessed to have strong support from our family, but through the Nager and Miller Foundation we have also felt part of another “family” who understands the unique challenges and joys that we experience with a child like Peyton. Through our blog www.peytonsparents.blogspot.com we have had many families reach out to us who have children that are newly diagnosed. We even had a family contact us before their child was born, and seeing Peyton’s smiling face brought them hope in a time of great stress.
The Global Genes/RARE Project, is just one more “family” that we can feel a part of. In December, I received a bracelet as part of the 7000 Bracelets for Hope project. Although I have never met the jewelry designer, Eileen has made me feel such hope that there are others just like her in the world who will make Peyton’s path easier.