Hi, my name is Leland and I was born on October 1st, 2012. The doctors noticed right away that I looked a little different. My skin was very red and dry and I was missing hair on my head. My little eyelashes were very sparse and thin. The pediatrician on call stated that it was just alopecia and directed my mom to follow up if needed. My regular pediatrician went with the diagnosis and just stated that we would monitor things as the years went on.
I started showing development delays in speech when I was three and was referred to an ENT to have my hearing checked. They found that there were issues with my eardrums and recommended tubes be put in. Since my ears are shaped differently then everyone else and the ear canal passages were narrow, the surgery was a bit complicated but successful! After that my speech took off and I needed less and less speech therapy.
Around the same time, teachers and care providers were noticing that I acted a bit differently as well. A referral was put into place to receive occupational therapy with Genesis Pediatrics in Bettendorf Iowa. A diagnosis was put into place of ADHD but through group services, OT and family support I’ve been very successful!
As the years went on my hair grew in just a little bit but I started to accept that I don’t look like everyone else and that’s okay! I do wish more than anything though that I could rock a bright red mohawk so my mom got me a bicycle helmet that looks just like that!
One day I visited a brand new dentist who took X-rays and noticed that I am missing ten adult teeth. They asked my mom if we’ve ever heard of ectodermal dysplasia and our journey began. The dentist referred our pediatrician to work with the University of Chicago, pediatric genetics team in the spring of 2019. I visited with Dr. Baht who confidently explained everything to my mom. They listened to our family history and advised they would get a DNA sample to confirm that it was ectodermal dysplasia but she was sure this is what I had after my visual exam. She noted my lack of hair, missing teeth, clubbed fingers, smaller than average hands and fingernails that split and crack effortlessly. She did ask about my sweating, luckily I seem to sweat like normal but do get hot easily. The test came back negative so they tested a few more times with the same results. We were all surprised but the genetics team said that they would test again in a year.
Eventually we moved from Illinois to Iowa and my new pediatrician referred us to Pediatric Genetics of Iowa City for a second opinion. It took a long time for the referral but eventually in December 2021 I received an official diagnosis of Ectodermal Dysplasia – Unknown Variant. They provided us information for the NFED and I learned there are so many others out there like me! I know I have a long road ahead of me in dental care but I’m fortunate to be as healthy as I am.