By Julie C. Carroll
Alex’s story started out just like any other story. The perfect little baby who fed well, was always normal on the growth charts and in general was a happy baby! We were also happy that he had the perfect little shaped head to be bald.
You see, we did not know at the time that his extended baldness had anything to do with a rare genetic disorder, so we always joked it was a good thing his little baby head was shaped so perfectly.
It wasn’t until Alex was almost a year old that we noticed something odd. As we were playing outside in the spring, we noticed that Alex was turning an odd shade of red. His face and ears were a sort of red I had never seen.
I went to bring him inside and I will never forget the exact moment I realized he wasn’t sweating. He was completely dry from head to toe. I went inside, stripped him down to his diaper and could not find a bead of sweat anywhere on his chunky little body.
Maybe it was mother’s intuition but I somehow knew in that moment that our lives would change. I didn’t know how, I just knew our lives would take a turn we weren’t expecting.
The Search for a Diagnosis
Although I am a nurse and I know better, after much googling I realized it was possible Alex had this disorder called ectodermal dysplasia. While his physicians initially denied this claim, I could not find any other explanations for his hypohidrosis (lack of sweating). So, nothing was done and we went on about our lives for the next few months thinking that it was ok if he was never officially diagnosed as the treatment would be the same; just don’t ever let him overheat.
I will say, I love Alex’s physician and I can see how this diagnosis may have been missed. Alex’s mutation doesn’t lead to the typical facial features seen in x-linked hypohidrotic ectodermal dysplasia. Since this is a rare disorder, many doctors have only seen a few cases and they were the “classic” cases. We have learned that Alex just may have a variation that causes serious hypohidrosis, but his other symptoms may just be mild.
Fast forward to around 14-15 months old and Alex developed severe gastrointestinal problems to the point that he was falling off the growth charts (he was previously in the 90th percentile). He was hospitalized several times and we found out he had a gastrointestinal organism that was causing his problems. I look back on these hospitalizations and I am grateful, because this acute illness is what led us to medical genetics.
During these hospital stays, we were referred as we kept telling the doctors that Alex still wasn’t walking or saying any words. Putting this together with his hypohidrosis, it was decided a referral to medical genetics would be appropriate. Alex had his blood drawn in November and at the end of January we received the results that would change us forever.
I always suspected ectodermal dysplasia, so I just assumed when I got the call from genetics to confirm this that I would feel relief. However, I felt the complete opposite. I felt like I had been punched in the gut.
You mean, my perfect baby Alex has an incurable medical condition that will affect him for the rest of his life? No, these things don’t happen to us, I’m sorry this must be wrong. Unfortunately, it wasn’t.
Alex has a mutation on the WNT10A gene that will likely lead to having very few adult teeth. He also is losing his beautiful, sandy blonde hair that took over a year to grow in.
At this point, I went through the whole range of emotions….I cried because I was sad for him, I cried because I was happy it wasn’t anything more serious, I got upset that somehow my husband and I both passed on a recessive gene to this innocent little soul, etc.
Then I hugged him and realized that with a lot of research and a lot of love, our little boy will grow up and lead a happy, successful life. This disorder won’t disable him, it will enable him. It will teach him lessons that may be hard to learn, but will build character. It will show him that all of our imperfections make this world a little more beautiful.
Finding the National Foundation for Ectodermal Dysplasias (NFED)
The day I found out was the day I signed up for the NFED. It has only been a few months but I have known since the second I found out that my mission will be to enhance the lives of those living with this disorder.
I have already learned so much and received so much support from the foundation. I have been armed with new questions to ask his doctors, I have been able to hear stories of others living with ectodermal dysplasias and their “life hacks”.
I have learned that I can fight for those whose insurance turns them down because they don’t believe lack of dentition leads to nutritional deficiencies. I have connected with others so that our family doesn’t feel so alone in our struggles. All of these things have lightened our burden and empowered us to do more.
Thank you all for the love, support and resources you are providing. My hope is to be able to pay it back to you all someday.
– Julie C. Carroll is a guest blogger for the NFED. She is the mother of a son affected by ectodermal dysplasia.