On a warm day last summer, I held an adorable baby so his mom could eat her lunch and gazed at little Jack in awe. He resembled the hundreds of other babies I’ve seen who are affected by x-linked hypohidrotic ectodermal dysplasia (XLHED).
Yet, Jack is different. He received a treatment before birth as part of the Edelife Clinical Trial for XLHED.
I don’t know if that treatment has helped Jack. Those research findings won’t come out until after the clinical trial is finished.
But, we do know that six boys who received ER-004 before birth outside of the clinical trial all sweat normally and have other improved symptoms. I looked at sweet little Jack and thought, “I may be holding a miracle baby!” And, of course, I got teary. If you know me, you know I’m a crier!
Hopefully, Jack will never have to soak his shirt in water so he can keep playing soccer without overheating. Perhaps he will not turn bright red all over as his body struggles to cool itself. Maybe his parents will be spared the worry that comes from not knowing the limits of what their child can tolerate in the heat when they travel as a family or go outdoors in the summer.
I’ve been at the National Foundation for Ectodermal Dysplasias (NFED) long enough – 30+ years – to appreciate what it’s taken for Jack’s parents to have the opportunity to choose this treatment for their son. The NFED’s led the XLHED research since 1986 that culminated in the development of this treatment.
Who would have ever thought that a small nonprofit in southwestern Illinois could help create something that would give individuals who are affected working sweat glands?
But, that’s exactly what the NFED has done and with the help of family participation, donors’ generosity and some of the brightest researchers in the world.
Growing Up With the NFED
I’ve also been around long enough that I have known Jack’s mom and grandparents for decades. It’s one of the perks of working at the NFED. I and the other NFED staff members often get to be a part of families’ lives: the celebrations, the milestones, and the tough times that come, too.
I took a peak back at my NFED life this year and realized all of the highlights involved someone with the condition who inspired me. Here are just some of the “tingly” moments that make me teary with joy.
Recently, a mom – now grandma – called to tell me her adult daughter, Rachel, with autosomal recessive hypohidrotic ectodermal dysplasia (ARHED) had just realized her dream and become a mother herself. They had been Family Conference regulars so I had the privilege to watch her grow up. I can’t wait to meet her new little girl.
I saw on Facebook that one of the first little girls I met back in 1991, who is affected by ankyloblepharon-ectodermal defects-cleft lip and/or palate (AEC) syndrome, had just married the love of her life. Lauren’s beaming with happiness in the photo. My heart swelled with pride for her.
The Boys are Back in Town
In July, I had the chance to see some of the boys from NFED Kids Camps, now in their early 20s. I was so excited to see them together again at the Stand Together Advocacy Conference in Washington, D.C. I couldn’t help but sing in my head, “The boys are back in town!” Zemery, Brett, and Nollan had all grown into amazing young men. Zemery, who has ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, brought his girlfriend to the conference. Brett, who is affected by XLHED, shared his dream of becoming a dentist, inspired by all the time he spent in dental chairs. Nollan, also affected by EEC syndrome, was heading to England to study finance. Wasn’t it just yesterday when they were crazy kids splashing in the pool and having fun in Kids Camp?
Diagnosed in Utero
At the conference, I also met an extraordinary couple from Hawaii, Alexa and Alex. The parents-to-be learned from a routine genetic screening that their unborn child had a gene for ectodermal dysplasia. Knowing nothing about the condition, they made the long journey to Washington D.C. so they could learn and be prepared as parents.
They also trekked all over Capitol Hill in 105-degree heat to advocate for the Ensuring Lasting Smiles Act. They knew the federal legislation could one day help their child get dental treatment. Pregnant, long flight, and high temps? Wow! The dedication and commitment of NFED families always leave me in awe.
Talented Teenagers
Another truly special moment occurred when I had the honor of speaking at the Delta Theta Tau Sorority Convention in Orlando. I invited 14-year-old twins, Alicia and Luna, to share their story. They were just wee ones in a double stroller when I first met them in 2012 at the NFED Family Conference in Orlando.
Now, they are thriving in their own ways. Alicia is a national karate champion while Luna is a thespian and performer. Alicia demonstrated her karate moves in front of the 300 women and Luna sang a song. They were effervescent and charmed everyone in the room. Most of all, me.
There’s the bubbly and articulate Emily from Alaska, who I advocated with on Capitol Hill. She went on to become the National Civics Bee champion and won $100,000! I also got to catch up with Josh, a teenager in California who I knew had endured years of skin erosions and 51 surgeries. Today, the competitive swimmer says his AEC syndrome will never slow him down.
My All-Time Favorite “Poster Child”
And of course, there’s Charley Richter, the first person I ever met who is affected by ectodermal dysplasia. He was just 13 years old back then. It’s always a good day when I get to talk to Charley, who is now a member of the Board of Directors. He always says “yes” to all of the crazy things I ask him to do for the Foundation. I know for certain that his mom, NFED founder and my mentor, the late Mary Kaye Richter, is beaming that he is joyfully continuing the work she started. He cares deeply about the NFED families.
Smilin’ Jack
Let’s end with another Jack. Jack Kriz and his daughter, Delany, rode their bikes 383 miles to Washington D.C. in the middle of summer to raise awareness for ectodermal dysplasias. He’s 72! He can’t sweat! He only has a few fingers on each hand! Sunlight bothers his sensitive eyes! None of that stopped the man affected by EEC syndrome. The dad-daughter duo raised about $25,000 for the NFED and captured the hearts of everyone who followed their ride on social media. And Jack does it all with a big, infectious smile.
My Second Family
People ask me why I’m still here. That’s easy. Have you met any of the people I just mentioned? Have you attended a Family Conference? I mean, come on! How could I not love being a part of this?
I aspire to contribute to the NFED’s mission to help affected individuals know that life can be good. Maybe their experiences with the Foundation can give them the confidence to live their dreams. Maybe they will know that I am one on a staff of seven who truly care about them. That’s what I want in my heart.
It’s All About This
What is the NFED all about? Of course, it’s Mary Kaye who said it best.
“Folks, it’s all about love, loving one another and caring for one another and making life good for one another.”
I’m all in. Are you? Together, we can do more!
Please join me in making a gift to the end-of-year campaign for an organization that makes my heart sing…and cry! Happy tears, of course.
