My name is Ava, and I have Acro-Dermato-Ungual-Lacrimal-Tooth Syndrome. I was born in Burnsville, MN on May 1, 2016. My parents and I were discharged after less than an uneventful birth and quick stay in the hospital. My parents recall they thought it was odd I was born with a tiny patch of white blonde hair on my head, considering they both have very dark thick hair. After being home for 24 hours I lost over 10% of my body weight and when bringing me into the clinic, they noticed a tongue tie. Thankfully it was fixed in clinic and I was sent back home. A few weeks later, I developed severe acid reflux and continued to be on medication to treat that for 6 months to follow. Upon my 6 month well child check, our pediatrician referred us to genetics because of my white blonde hair, and indented nails. I was then clinically diagnosed with ectodermal dysplasia by the genetic counselor, geneticist, and pediatric dermatologist that happen to be available that day at the University of Minnesota. Shortly after through exome sequencing, my clinical diagnosis was confirmed that I had a spontaneous tP63 mutation. My parents and I connected with the NFED to learn as much as possible.
When I turned 1 I had tear duct surgery (first one to verify I actually did not have any tear ducts and a second surgery to build new tear ducts for me). Unfortunately, those have since closed so we continue to manage my “goopy” eyes since I not only lack tear ducts but the oil component of my tears as well. Because of the lack of my tear ducts and my sensitive skin, my cheeks are a constant battle to take care of. We use Aquaphor 3-6 times a day to help and have been prescribed over 10 different steroid ointments to help (we learned quickly that the lotion ones have a burning sensation but thankfully the ointment kinds do not and have helped). Other areas, like my hands, knees, and especially feet have very sensitive skin as well and often crack, creating open sores and bleed. I am currently spending the hot Minnesota summer in socks with Aquaphor daily to help with this. I take weekly ‘bleach baths’ as recommend to help with my skin as well. Other than managing my skin, which is usually the part that causes me the most pain; I visit the pediatric dentist 4 times a year, ophthalmologist 2 times a year, pediatric dermatologist 1-2 times a year, and make sure to go to my well child checks. I do sweat some but can overheat easier than others.
I am confident in speaking to close friends and family about how I have super special skin, hair (my hair is blonde and very thin), nails (indented and do not grow quickly), and my special teeth (which are small and have weak enamel). “How boring would this world be if we were all the same?”
am blessed to have an amazing family and awesome friends that support me. I am a strong, smart individual and ectodermal dysplasia hasn’t slowed me down (although my mom keeps on top of me from time to time). My hobbies include swimming, golf, playing Barbies, signing and dancing, jumping on the trampoline, and playing with my sister, cousins and friends.