A Different Normal

By Rachel Buerman

Rachel Buerman serves as a Family Liaison for the National Foundation for Ectodermal Dysplasias. Rachel, her husband Chris, and two daughters live in Minnesota.  She has a PharmD degree from the University of Minnesota and currently is a pharmacy manager for the Walgreen Company.  The Buerman’s youngest daughter is affected by focal dermal hypoplasia or Goltz syndrome.

A sign in our daughter’s room says “one shoe can change your life.” This Cinderella quote could be a sick joke or a powerful statement considering it is in the room of a girl who only has one foot. As parents of a daughter with a rare genetic disorder, perspective is often the key to our experiences.

The ectodermal dysplasia syndromes affect the hair, nails, teeth, sweat glands, and skin.  Also, fingers, toes, inner ears, eyes, and nerves can develop abnormally.  The symptoms experienced can vary greatly.  It is unknown exactly how many people are affected by an ectodermal dysplasia.  It has been estimated by “The Birth Defects Encyclopedia” that seven in every 10,000 babies born are affected by an ectodermal dysplasia.

The truth is, raising a child with an ectodermal dysplasia is both a blessing and a challenge.  One of the challenges is managing the emotional toll on our family. Emotionally, we have had to deal with feelings of jealousy, uncertainty, and fear.  We have also had to manage our responses to outsider’s reactions.

It is not easy to admit but we are jealous. We wish our daughter had two feet to stand on and two eyes to see with.  We are jealous of individuals affected by more common disorders such as cancer, diabetes, or Down’s syndrome.  We are jealous that they have doctors that specialize specifically in their condition and “our specialists” have to Google focal dermal hypoplasia to figure out what it is. It is not fair that our four-year-old asks, “Why didn’t God give me two feet?”  We are jealous that you don’t have to answer that question and we do.  We fear we don’t have the right answer.

We worry about the uncertainty of her future. Will she ever be able to drive a car, graduate from high school, or live on her own?  We worry about what will happen to her if something happened to us. We wonder if we can navigate the educational system well enough so that she can be successful. We are scared that our love will be the only love she experiences.

Please know we want to share our experiences but don’t want pity. Ask us questions instead of staring. We love to talk about how smart, funny, and loving she is. Most days we want tell everyone we see how well she is doing.

We have learned how to balance the emotional toll on our family by reaching out for information, support and connections from the National Foundation for Ectodermal Dysplasias.

While the emotional side of raising a child affected by ectodermal dysplasia is challenging, the blessings she has brought into our lives outweigh the gallons of lotion and hours of doctor visits. Our lives have definitely changed since she was born. For that we cannot be more thankful. Cinderella was right….”one shoe can change your life”.