Piece of the Puzzle

By Lindsey James

Like many of you, my path to discovering the National Foundation for Ectodermal Dysplasias (NFED) started with a search for answers or pieces of the puzzle, a Google search to be exact.

After nearly two years of unexplained fevers, chronic respiratory illness and feeding issues, I was tired.


Lindsey and Keegan

Our life was filled with repeated doctor visits, blood tests, and hospitalizations only seemed to result in more questions than answers.  I was a desperate mama in need of SOMETHING, the missing piece of the puzzle, that last clue that would unlock the mystery of what was making a life for my baby, my little boy, so challenging.

I had tried to steer clear of online medical sites offering advice and information. Our pediatrician had my trust as well as the various specialists we had been referred to. I prayed. A LOT.

At the age of 18-months, broad spectrum genetic testing provided no results and tests for cystic fibrosis were inconclusive. During a conversation with one of our ear, nose and throat specialists, I asked if there could be any connection between my son’s lack of teeth and the apparent absence of sweat.

The doctor politely dismissed my inquiry and suggested that we conduct a more “aggressive” sweat test before ruling out cystic fibrosis.

Like a siren, something in me started screaming “Danger! Danger!”

I knew the proposed test was a bad idea. But rather than just refusing, I felt I had to prove my “mother’s intuition” was correct.

I immediately expressed concern and asked about the dangers of trying to induce sweat.

Is it possible he doesn’t sweat? Could that be part of the issue?

My concern was disregarded and I was told I would be contacted in a few days to schedule the test.

We returned home and I couldn’t stop thinking about it. So, there I sat in front of my computer screen. Cursor blinking in the empty search box. After much thought, I typed: Absence of teeth, lack of sweat.

Absence of teeth, lack of sweat

Keegan is affected by HED.

Within seconds, I had found it. Finally, the last piece of the puzzle was right there… within the top results of my search appeared the link to the website for the NFED. It only took a few minutes to read enough about hypohidrotic ectodermal dysplasia (HED) and see photos of other kids to know, THIS IS IT!  

I felt like I had just won the lottery.

As a result, when the hospital called to schedule the sweat test, I had no trouble saying no and instead demanded another appointment with the geneticist. A few weeks later, a blood test confirmed my discovery and my son’s diagnosis of HED.

Finding the NFED

Finding the NFED has been one of the greatest blessings I’ve ever experienced. The staff was incredibly warm and welcoming. They not only provided me oodles and oodles of information but put me in touch with others who had been in my shoes and could share their own experiences.

After months of darkness, the NFED became a beacon and filled our lives with light.

I quickly started making friendships and became part of the NFED family. The more I learned about HED and began understanding my son’s condition, the more his health improved. I was not only filled with gratitude but a desire to get involved and give back to the NFED. I wanted to share the light with others.

Since 2011, I have served as a Family Liaison and connected with many families. I have helped others tell their stories through the NFED blog and have served on several committees. I’ve also been involved with a number of fun projects including development of the new website and participated in the planning of Family Conference.

We Volunteer

Sharing my time with the NFED has been very fulfilling, and I’ve had many heart-warming moments, however, the most rewarding (and

Keegan shared his story at a recent meeting of the NFED Board of Directors. Here he is at that meeting with Anil Vora, Board president at that time.

unexpected) has been watching the little guy following in my footsteps.

It’s said that nothing teaches hope, kindness, courage, and compassion like helping others and it’s true! My son , now 8, has started finding his own ways to give back and contribute to the NFED. During this past Family Conference, he was eager for any opportunity to help and is already looking forward to lending a hand and sharing his story in Washington D.C.

I’m amazed and inspired by his giving spirit. Nothing brings me greater joy than nurturing his desire to help others and teaching him to share his light. That’s why I volunteer.


Share Your Story

2 comments on “The Missing Piece of the Puzzle”

  1. 1
    Deanna on January 10, 2019

    Your story really hits home for me. My son who is three just was diagnosed. We went through the respiratory illenesses, malabsorption, fevers, etc. We did two sweat tests that were neg for CF. It’s been a long three years. Now I’m curious what ahead for my little guy. The doctor’s didn’t take me serious until we saw a dentist. She got us the ticket to the genetics Dept. I want to be educated on my son’s condition. So glad I found this site online. Thanks for sharing.

    1. 2
      Jodi Edgar Reinhardt on January 10, 2019

      Hi, Deanna. We are glad that you have found our website and are getting some answers to all of your questions. I’m sure it’s felt like a long road to get here. But, you persisted and trusted your mother’s intuition. Good for you! We encourage you to complete this form at https://nfed.org/join-us/ so we can send you lots of information, sign you up to get updates via email and provide other resources. While our website has extensive information for you, we encourage you to give us a call at our office at 618-566-2020 and ask for Kelley. She talks with our new families and will be able to talk to you about what you can expect, answer your questions and allay any fears. Please know that you are no longer alone! Our ectodermal dysplasias family is here to help and support you. We look forward to hearing from you. Let us know how we can help.

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