Evan’s Story

By Karen Forman

My favorite quote of late has been

Life isn’t about waiting for the storm to pass.  It’s about learning to dance in the rain.

Thirty-three years ago, I was not that wise.  Now I dance.

Evan is a smart, engaging and talented adult with a unique beginning into this world.  So, Evan was diagnosed with hypohidrotic ectodermal dysplasia by none other than his own father at four months of age.

Our lives together were just beginning with the happiness of a new marriage, a new home and a child on the way.  What could be better?  The day Evan came into this world was filled with an ice storm, love, and excitement.  The day ended with uneasiness.

In his way of trying to be gentle, our obstetrician said, “You know Karen, they all don’t come into this world beautiful.”

Those words haunted me over the next few months as we began having so many of the same experiences that many of our ectodermal dysplasias families share.  Translucent pale scaly skin with red blotches and no hair were prominent. Nursing was hard. Evan seemed so stuffy all the time and there was that lovely projectile vomiting that graced our presence, too.

But, I so tried to take the sage advice of everyone around me, which of course was that he would be fine and just needs some time. He seemed to spike a fever here and there, but that was easily explained away with an underdeveloped thermostat.

Wake Up Call

A meet-the-family trip to New Jersey from our home in the D.C. suburbs was our first wake-up call that my initial uneasiness could no longer be swept under the rug. Being mid-winter and being a new mother, Evan was dressed for the season. By the time Bob and I reached our destination, Evan’s temperature was clearly over 104 degrees.

Several previous pediatrician trips were logged due to high temperatures, but those temperatures were clearly back to normal by the time the doctor entered the examining room. We spent most of that New Jersey trip in the hospital with Evan with endless tests and examinations by endless doctors.  No answers.

A path formed

But, there was a very young staff resident who made us take pause.  Over coffee, he let us know he was surely no expert being at the beginning of his medical career, but there were so many syndromes out there and we should remain vigilant and alert. In our heart of hearts, we knew we needed answers.

After several more visits to our pediatrician since our return, we all knew answers were needed.  The underdeveloped thermostat theory just no longer seemed to cut it.  On one specific visit in which both my husband and I were present, she threw a question our way.  The question was, “Does Evan ever sweat?”

Bob and I looked at each other quizzically as new parents with little experience often do. The question was asked in another way which hit home.  Were the soles of his feet ever damp or clammy?  The answer was no. Our pediatrician indicated she knew some folks at Johns Hopkins and was going to pursue some consultations.  She did not have an answer but was on a path.

Bob, a young dentist, seemed unusually distracted that day returning from our pediatrician’s office.  Only to find out later that day he was haunted by our pediatrician’s words and by a simple staple question which seemed to always appear on the Dental Boards. Yes, that question was about ectodermal dysplasia.

He figured it out.

He made a call to our pediatrician that same day and quite eloquently asked if she had considered the possibility of ectodermal dysplasia. The other end of the phone was silent for a few seconds. She said, no, she had not and honestly admitted she had never heard of ectodermal dysplasia.  The doctor said she would call him back shortly. She needed to make a few calls.

Yes, this really happened. This is how Evan was diagnosed at four months.  I was fear struck, same as many of you after hearing the diagnosis.

Bob was just starting his dental practice and also teaching at the university he attended.  After confiding in a colleague and mentor, we started to understand more about ectodermal dysplasia and learned there was a foundation out there.  By the way, that colleague and mentor became Evan’s faithful pediatric dentist.

There was no doubt after reading all of the specifics that Evan had ectodermal dysplasia.  We were on the phone with Mary Kaye Richter, the founder of the National Foundation for Ectodermal Dysplasias,  that very evening.

One call changed our lives

It may have been 33 years ago, but that conversation is as clear to me as yesterday.  We had an answer; we had a diagnosis; and an angel on the other end of the phone line.  She provided detailed information on ectodermal dysplasia, wise knowledge as a parent of a child affected by ectodermal dysplasia, and more love and assurance than anyone could imagine.

Looking back now, I can say this is where I began learning to dance.  This is just the beginning of Evan’s story.