My name is Katherine, and I have Focal Dermal Hypoplasia, which is commonly known as Goltz Syndrome. I was born on December 11, 2015 at Johnston-Willis Hospital in Richmond, VA. Before I was born, my mommy’s doctor had noticed there was an issue with my bladder and kidneys, so I was monitored by a neo-natal specialist. I was born not breathing, so this gave the doctors a little cause to worry, but I made my presence known rather quickly. After a quick hello to my parents, I was taken to the NICU. I was also born with differences to some areas on the left side of my body. I was born with what looked like a lazy eye, an ear lobe that didn’t close all the way, two fused toes (syndactyly), papillomas on my mouth and toes, a rash-like appearance under my arm and on the back of my leg, and a crooked butt crack. I had lots of tests done during my four-week stay at the hospital, but I was lucky to have some wonderful nurses take good care of me. While in the NICU, I received a tentative diagnosis of Goltz, which was later confirmed through genetic testing.
After I was discharged from Johnston-Willis, I was referred to many specialists besides my pediatrician. These doctors include a geneticist, ophthalmologist, dermatologist, orthopedist, nephrologist, and urologist. I have also seen a pediatric dentist, ENT, developmental pediatrician, as well as a home health nurse (up until age 1), speech therapist, and occupational therapist. With the exception of urology and orthopedic doctors, I see everyone else on a regular basis.
When I was two months old, I had eye surgery to remove the lens in my left eye. When I was sixteen months old, I had surgery to correct my kidney reflux (which is now completely reversed). I have had a sleep study done and have an endoscopy coming up soon. I also recently got glasses but I don’t always like to wear them.
My hair is a little thin. My daddy has to trim my nails a lot, because they split. I do have eczema so I have to be careful with what I put on my skin. I have to stay hydrated, because I get hot very easily. I have been slow to gain weight, but I am tall as well. I am slowly learning to speak using words, but I like using signs better. I have no problem communicating when I don’t like something. I love playing with my parents and my big sister. I am very silly and love to laugh and play. My mommy calls me Linus, because I have to have one of my blankets with me at all times, even in the church nursery.