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.
22 comments on “Giraffes to Genes: Alexander’s Story”
Thank you for sharing this story about your beautiful Son! I’m fighting back the tears as I read this because it’s like reading our granddaughters life. I’d trade places if God would just let me. No parent or grandparent wants their child to suffer through any heath problem. I have to believe God is hearing so many prayers and there will be a cure, a miracle, a normal life for all those effected with ED.
Thank you Betty! I understand wanting to take this away from them, but they are brave kids who can face anything! Prayers for your sweet granddaughter!
We love you, Carroll’s! Love that little bald noggin!
We love you too!
God has given you two beautiful, perfect sons. They are so blessed to have you and Tim as parents.
I completely sympathise. My daughter has the same gene mutation WNT10A. We found out when she was about 7. She is a beautiful teenager now. No one else in the family has ED. She has a lot of hair and does sweat but only has 6 adult teeth. She is treated by specialist team in London and we’re hoping she’ll be a candidate for teeth implants when she turns 18. It was very difficult to come to terms with her diagnosis at the time but and I went through the same emotions as you. Your little boy is lovely. Message me if you’d like to chat.
Thank you! I am always amazed at how different the presentations can be with ED, even with mutations of the same gene! You’re the second person I’ve heard say that their child has a WNT10A mutation and can sweat. So interesting.
I am in England and we go to GOSH in London.y son has both his WNT10A genes mutated and my daughter is being tested too as she doesn’t sweat. Would you be free to chat? I don’t know anyone else with it in this country. Rachel x
Great story with plenty emotions. I have two handsome sons that are also affected, the first David is 6years old today, while second Jedidiah is 1yr plus. Except for the early period when we had to go from hospital to hospital looking for answer to Davids’ constant overheating problems, at no time did we, myself and my wife saw this as a misfortune of any kind. Yes my both boys don’t sweat like their second brother Joshua, and so what? Or does not have any teeth at all. Regardless of what they may lack, I still consider them very handsome and indeed they are. The only issue we are struggling with concerning them is the tropical whether of our home country Nigeria, which means they can hardly be involved in activities that are not indoors. Also of major concern is Davids’ academic future, which was caused by the may years of ignorance, hence he was administered with so much antibiotic that it almost affected his speech and made him somehow slow in learning. Aside this for us, our boys are just as perfect as their brother Joshua. Since we had enough experience with David, Jedidiah benefited so much that we have never been to the hospital for any sort of treatments with regards to His health. He’s so handsome, agile and already saying few words.
My advice is, never see these guys as anything imperfect, if anything, always give thanks to God that they are normal and have the same propensity to live a full fulfilled life like any healthy individual, unlike some disability that doesn’t offer such luxury.
Thank you for sharing. As a mother with a daughter who also has ectodermal dysphasia I can’t express enough how your story inspires me and let’s me know my reactions are normal and how to strive to turn this into a positive for are kids, family and others.
I’m sorry I just saw your comment. We all go through a lot of different emotions and that is ok! At some point I just decided that being upset wasn’t going to get us anywhere so the next step is fighting for all of these kids! Hugs to you and hang in there Mama, you’re doing a good job!
Love reading about your Alex! You’re never alone! Hope to see you in Portland!
Love you all guys/Girls,
Thanks for all who shared their experiences and i also facing the horrible situation, But at the NFED platform, i am still in great of support and help in getting the researchers attention and to solve out the problem, please is there any body to help me out of getting this ED situation and living a normal live. Don’t i have to live or being the human it isn’t my right to live so…??
Please help me out. My contacting email is:
I too have 2 children who share a double mutation of the WNT10A gene passed down from my husband and I. Both were beautiful bald babies like yours, and both have congenitally missing permanent teeth. My son has 20 and my daughter has 13 permanent teeth. They are both able to sweat. They both grew hair, but my son has early male pattern baldness at 19, and my daughter has experienced some hair shedding in her teens as well. My daughter has eczema too. Thank you for sharing! It is interesting how these mutations manifest in different ways. We love our children no matter what and would do anything for them!
That is very interesting! We still don’t know if Alex has any adult teeth. I haven’t had the courage to see the dentist about it yet. He has terrible eczema also with weekly breakouts that we just manage as best we can!
This is giving me so much hope. We just found out two years ago my daughter has a double mutation on the same gene. We don’t know yet how many or if any teeth she will have. It’s hard waiting. She overhears easily but I have felt dampness at times so I’m hopeful she can sweat slightly. She has almost no hair and just turned five but what scares me most is her younger brother hasn’t been tested yet and I’m worried we should do that. I’d love to connect with others on this. Thanks for all the comments and shared stories!
Thank you greatly for sharing your son’s story. My daughter too has this same diagnosis and I’ve felt very isolated when trying to connect with people going through the same thing. Until now, I haven’t read another story much like ours.
Our daughter Clara had very obvious symptoms of this condition when her teeth first erupted at 9 months old. Our GP was able to find us an amazing pediatrician and geneticist to get Clara’s diagnosis underway almost immediately.
I’m very interested in connecting and talking with someone who shares the same struggles our family does.
Hi, Kelly. I’m glad you found our website and specifically, Julie and Alex’s story. We know that you can feel alone w hen diagnosed with a rare condition. The great news is that you are not alone! The NFED exists to serve you. Our staff would love to talk to you and offer support if you so desire. Call our office at 618-566-2020 and ask for Kelley. We would love to connect you with other families. If you fill out this short form, we can connect you – https://nfed.org/get-involved/connect-our-community/. Plus that page gives you links to our various Facebook private groups. They are another wonderful source of help and support. The conditions have their challenges but we can help you navigate them for your sweet Clara! We look forward to hearing from you. ~ Jodi, NFED, Director, Marketing and Communications
Carroll is my maiden name. I would love to here your story.
My daughter was diagnosed at 1 years old with OODD and is now 3 and half. I’ve gone through every emotion possible, so hard to grasp. she’s so intelligent, clever and such a little character she’s just perfect in every way. Her teeth are affected and are showing a couple of adult teeth on X-ray nails are pitted and thin and hair is slow growing and fine. Her skin seems to be fine just gets a little rash around her mouth now and then but Epaderm ointment takes it away. I just want to share with you that I’ve been giving my daughter Marine Collagen powder that’s for hair, skin and nails and teeth just 2 tea spoons in her drink on a night and her hair is thickening up and growing,
her nails are not pitted anymore and are growing lovely and her skin is so clear. She’s been on it coming up a year and have really noticed a difference. It’s from edible health and is the green one can get from Amazon to. Your boy is so beautiful!! Xxx
Thank-you for sharing your story. My daughter, who is 11 now, has the same diagnosis. She does not sweat, her hair didn’t start to grow much until she was ten, and her permanent teeth all look to be there in X-rays. They are coming through in ways that will mean a lot more dental work though. She also has very thin, fragile skin along with very hyper-mobile joints that cause her pain.