With the hope of the Edelife Clinical Trial for x-linked hypohidrotic ectodermal dysplasia (XLHED) and the successes of the treatment to date, I have been recalling memories and reminiscing with my husband and mother about Aidan’s journey with XLHED. Many of those memories are painful and still cause anxiety. I can’t help but think about an alternate journey we could have had if the clinical trial was available when I was pregnant with Aidan.

Aidan is the firstborn of our three sons. To be honest, not only was I nervous about being a mother, I was unsure that I was doing everything correctly. I relied on my mom and our pediatrician for guidance. It seemed the first few years of his life were non-stop visits to the doctor for one thing or another: continual rashes, viruses, ear infections, hives, and spiked fevers.

We heard more times than not that Aidan needed antibiotics and fever relievers. When those didn’t work, we went to the emergency room to get an I.V. and alternated fever relievers that would cool him down temporarily. These episodes were scary and caused me a great deal of anxiety and frustration and left me with unanswered questions. With each infection or illness, his fever spiked and with each episode, Tom and I became increasingly suspicious that there was something the doctors were missing.

ER Visits Became Routine

On one visit, we were told Aidan had a virus and there was nothing the doctors could do, and we would have to wait it out. At home, I patiently waited for my husband, Tom, to get done with work as I was overwhelmed and worried about our son. As soon as my mom and Tom were done with work, they headed home to check on Aidan.

A young boy is standing in a football stadium with the field to his back. He's wearing a gray zipped jacket.  He has brown hair and has widely spaced and missing teeth.
Aidan has always enjoyed sports.

We took turns placing cool compresses on him, keeping watch, and trying to keep him comfortable. A few days later, Aidan had a head to toe rash and a fever of 105 and we were off to the emergency room again. This time, we were told that he had scarlet fever and they would keep him comfortable until his fever decreased. Again, we were sent home after a long night in the ER and told to come back if his fever spiked again.

Without sleep, Tom went to work his shift as a detective with the local sheriff’s department and I watched Aidan intensely. When his fever spiked again, I started to panic and called Tom to explain that Aidan needed to go to the ER again. We were off to the ER, this time with no sleep and both arguing that this was happening too often. Another I.V. and several rounds of fever reliever and we were sent home again.

A young boy is wearing a life-jacket outside over a blue t-shirt. He's smiling and has missing teeth and teeth that are widely spaced apart.
It took awhile for us to figure out that Aidan was overheating because he was affected by ectodermal dysplasia.

These episodes happened regularly. At some point, I started carrying a list of antibiotics that were prescribed to Aidan, so they could be rotated to avoid resistance.

The Day Aidan Turned Into a Lobster

When Aidan started school in 3K, it seemed that he would regularly come home with a cold, virus, flu, hand foot and mouth, strep or whatever illness was going around. At this point, Tom and I were fatigued and stressed. Checkups, doctor’s appointments and follow-up visits were routine. Sleep deprivation, arguing about what specialist or advice to pursue next, and Tom requesting time off from work also became routine.

Most days, I would pick up Aidan from school. On a day I will always remember forever, he told me he turned into a lobster. I laughed and asked him what he meant. He told me his skin turned red and he was hot when he was outside. He looked a little pink to me and I brushed it off.

That moment has caused me a tremendous amount of parental guilt that some days I still can’t get out of my head. A few weeks later, I picked him up again. As he walked out of school and got into the car, I immediately asked him what happened.

This is a collage of side by side photos of a young boy. At left, the boy has a very red face, forehead and lips because he's overheated. At right, his face is pink because he's cooling down.
At left is a photo of Aidan was he was overheated. At right is Aidan shortly after as he was beginning to cool down.

He again told me that he turned red, felt very hot, turned into a lobster and he felt sick. I turned on the air conditioning, rushed him home and put him into a cool shower. I stood outside of the shower crying and blaming myself that I didn’t prevent his overheating from occurring.

Finally A Name

After that incident I started becoming overprotective, my anxiety increased and I started seeking additional advice from Aidan’s providers. We made changes to our lifestyle to ensure that Aidan had everything available to him to prevent overheating.

About a year later, around the same time that we heard the words ectodermal dysplasia for the first time, Aidan had a seizure that his physicians attributed to overheating. This event changed us forever.

Again, guilt set in and we were determined to ensure that this would never happen to him again. However, with that determination, we started to limit his activities due to the constant anxiety that we would miss something that may lead to another seizure. This is something I often regret and wish we would have had an expert to talk to who would have helped us navigate these health issues.

How Aidan Managed His Cooling

A teenage boys in black shirt and shorts is climbing a rock wall.
Climbing a rock wall indoors was a great way to let Aidan explore.

Thankfully as Aidan became older he became more aware of the symptoms of overheating and voiced his need to cool down or take it easy. After several years, I began to trust his instincts and I reluctantly allowed him to ease back into sports and higher intensity activities. He found his love of basketball and we made sure he was equipped with cooling products, water, and educated coaches on his condition to allow him to play.

A teenage boy is standing on a basketball court and holding a backpack and certificate.
Aidan’s passion is basketball.

During high school and while playing basketball, he struggled with the symptoms of overheating and had to make sure he remained well hydrated, cooled himself down and rested if needed to avoid migraines, vision issues and lethargy. He will need to continue to be vigilant throughout his lifetime.

The What Ifs

As parents we often get stuck on the “what ifs” in life and if things could have turned out differently. I can’t help but think about the different journey that we might have been on if Aidan could sweat normally. Maybe his seizure would never have happened and we wouldn’t have to live in fear of what could happen next.

Would we have avoided the daily conflicts, frustration and anxiety? Would it have made his quality of life better and he could have participated in more activities? This will all remain unknown for our family and unfortunately, there is no way to turn back time. However, if the trial would have even reduced the risk of overheating in the slightest or allowed Aidan to avoid having a seizure, I would have been first in line to participate.

All we can do is look ahead and the future holds hope. Our family is incredibly thankful and indebted to the amazing families who made all the sacrifice to participate in the clinical trial. The success that has been shown from the clinical trial has brought hope to our family for future generations.

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