By Jill Dolde
My son Nathan (Nate) turned seven on November 19th. He has blessed me and my husband in so many ways. Nathan is our only child. As first-time parents, we were scared hearing something does not look when your child was born.
His scalp was very dry, flaky and red right after birth. Our son was designated as “failure to thrive” as a newborn and was having difficulty gaining weight. The pediatricians tested him for everything they could think of to “rule things out” as they put it.
We were instructed to have him take a sweat test to see if he had cystic fibrosis. When he took the sweat test two times and both times the doctors could not detect any sweat, my husband went online and did some research.
My husband actually diagnosed ectodermal dysplasia before any doctors did. We took Nathan to a geneticist before he turned one and it was confirmed – hypohidrotic ectodermal dysplasia. I did not realize that I was a carrier and my mom was too.
When I was young…
When I was young and my mom was young, no one knew of ectodermal dysplasia. We did not think to ask any questions regarding the shape of and quantity of our teeth. Growing up, neither of us ever realized the shape of and quantity of our teeth were connected to a genetic disorder.
Over the years, we have learned so much about ectodermal dysplasia by speaking directly to the National Foundation for Ectodermal Dysplasias (NFED) staff and speaking to other families over Facebook. I really hope we can attend an annual conference one year. I would love for Nate, for all of us, to meet other wonderful families and create lasting friendships moving forward.
It is easy to feel like you are alone on this journey. It is reassuring to know you are not alone. Our son each and every day shines brighter and brighter through his personality and imagination that knows no boundaries. We always want him to believe he can try anything and never believe “no” is the first and only answer because of ectodermal dysplasia.
We tell him “this is how God made you.” And we truly believe this – that God blessed me and my husband with our beautiful son, with the person that he is, and that we can learn a lot from Nate, too.
I want to thank the NFED and all of the families for sharing their stories with all of us. Their encouraging words are powerful and resonate each and every day. God bless each and every one of you. God bless Nate.
Share Your Story
I an Nate’s Grandma and am very blessed to have him in my life. He is a bright and shiny star who lights up my life constantly. He has not let anything about his condition stop him from doing and accomplishing anything.
Thank you so much for sharing your family’s story. It hit close to home for me. That is exactly what happened when my son was a baby. I spent 15 days with him in the hospital as they ruled things out and ultimately diagnosed with hipohydrotic ectodermal dysplasia. We knew nothing about it, and this was in the 70’s, way before the internet and Google searches :). We diligently dug up information and finally found the NFED. I’m so grateful they are there for all the families who need their support. Best wishes to you all!
This is the same exact way I found out my son had hypohidrotic ectodermal dysplasia. He has always been tiny and I could tell something was not right with him. So I talked to his pediatrician and she wanted to check for cystic fibrosis and did the sweat test but no sweat was detected. I diagnosed my son as well before his doctors. They did a whole exome sequence and found that he did have it, we also did secondary findings and found out he also has another broken gene called NFKBIA that causes immunodeficiency. I also found out I was a carrier of Ectodermal dysplasia and the same NFKBIA gene. They tested my mother and she wasn’t a carrier but she also had the broken NFKBIA gene. So I was a spontaneous mutation. My son is 18 months and weighs only 19 pounds. They are considering putting a G tube in because he also don’t have his teeth yet. He has 4 at the top but none at the bottom. He sees 10 doctors and specialists. I would love to meet other families who are affected by ED.
Oh my goodness! This is exactly what happened to us. We were so scared when our son Parker was born. The doctors said he probably had CF. We went to a specialist and the test was negative but we did not get the ED diagnosis until he went to the dentist.
Hi, Stephanie. The road to getting a diagnosis can be a scary one! We totally get it. We are glad to hear that you ultimately landed on the correct diagnosis and then found the NFED. If we can help you in any way, please give our office a call at 618-566-2020. We would be thrilled to talk to you and answer any questions we can. Take care, Jodi, NFED, Director, Marketing and Communications