Diagnosed Over the Phone With Ectodermal Dysplasia

When Mason Langefeld still had not developed any teeth by his one-year-old check-up, his mom, Renee, decided to call a local dentist. He asked her a few questions that quickly led to a suggested diagnosis.

“He basically diagnosed him over the phone without ever seeing my son by asking questions like: ‘Does your son have really white hair that sticks up everywhere?’ and ‘Does your son seem to get hot quickly?’  I answered “yes” to both those questions and he referred me to the National Foundation for Ectodermal Dysplasias’ (NFED) website. We were then referred to the genetics department at Cincinnati Children’s hospital.”

Genetic testing confirmed what that local dentist suspected: Mason was affected by x-linked hypohidrotic ectodermal dysplasia (XLHED). He is the first and only member of the family to have the condition. Renee and her husband, Eric, also have a 10-year-old daughter, named Samantha.

Eventually, Mason did develop 12 baby teeth. His back molars arrived first and then his front teeth came in cone shaped. However, Mason doesn’t have any permanent teeth.

Breathing Issues and Nasal Discharge

His first year of life was very stressful for his new parents. Mason had breathing issues and lots of nasal discharge. They took their first-born to see a variety of doctors.

“I just remember it (the nasal discharge) didn’t seem normal. We saw a pulmonary doctor and they did bronchoscopy. They did a sleep study on him and he had to sleep with oxygen tanks for a couple months. They never really figured out what was wrong with him but put him on some reflux medication and he seemed to ‘out grow it.’

“It wasn’t until he was diagnosed (with ectodermal dysplasia) and we read about other kids having similar nasal and breathing issues that we connected the two. I remember emailing the pulmonary doctor at Children’s Hospital months later and telling him what condition Mason had. The doctor was very thankful and said that he is always learning new things even out of medical school.”

Today, Mason is 14 and your typical teenage boys who loves video games, sports and hanging out with his friends.

“Mason is a very kind and good kid…he is a teenager right now so we all have our moments!”  Renee joked. “He is very outgoing and likes to get involved in new adventures and meeting new friends.”

Mason’s Dental Journey

Like others who share his rare disorder, Mason has had numerous dental procedures through the years.

“Mason had caps put on his front teeth around age four. He had braces put on around age 12 to reduce the gap between his front teeth. He was then fitted with a retainer that had fake teeth to fill in the gaps on top. At age 14 he had a permanent fixed bridge put on over his top teeth and it looks great! The fixed bridge is great because we don’t have to worry about losing or breaking the removable retainer.”

Paying for the fixed bridge was another challenge for the Langefelds. Their insurance company denied their first claim.

“Our insurance paid the whole $6,500 for our son’s permanent fixed bridge – after our first appeal letter. In our appeal letter, we sent information from the NFED (Insurance Tool Kit), letters from all his doctors/dentist, the genetic testing results and a personal letter from us. The denial letter came and stated (in fine print) that this was not covered ‘except when directly related to an integral part of the medical or surgical correction of a congenital anomaly…’ So in my personal letter, I made sure to add the proper wording and put, ‘My son has a congenital birth defect…” The insurance process was stressful but thankfully it only took one round of appeals.”

Those words and documentation were just the right things to do and their provider (TriCare Select North) approved benefits. Mason still has much more dental care in his future, including bone grafting and dental implants, and his mom doesn’t know if it will be covered by insurance or not.

“I am anxious to see if his bottom bone graft and implant rods will be covered as well. I don’t think we are starting this for another year or two, per our prosthodontist. This will be more expensive.”

According to Renee, his biggest problem has been eating certain foods. He has learned to use his tongue a lot when chewing his food. His speech is affected slightly.

Other Challenges Ectodermal Dysplasias Presents

Mason doesn’t sweat but is starting to on his hands and feet now that he’s hit puberty. Not being able to sweat has affected his choice in some sports but he enjoys other sports with little to no problem, as long as he has frequent water breaks.  This past fall, the high school freshman wanted to join the swim team but the athletic director was anxious about having him participate.

“Each new sport or activity that he does brings me to new people to educate. Perfect example is that he wanted to try the swim team this year and they were very hesitant on letting him try for fear of what they didn’t know. We had many weeks of phone calls, paper work, and my husband and I sitting at practice just in case he go too hot. I begged them to just give him the chance to try. In the long run, he tried it and now loves swimming. His coach is wonderful!”

Looking back, this mom says the biggest challenge or raising a child with XLHED was the unknown when he was younger.

“As a parent, you worry about if he will fit in, will the other kids make fun of him, can he play sports, will he have friends. What I have taught him and his teachers and classmates was to always be open about his condition and talk to others about it. This way kids could ask him to his face and not talk about it behind his back.

“We were fortunate to have gone to a very small school where everyone knows each other. He was with the same group of kids for eight years before moving on to high school. Each year, I would send email reminders to his current teacher for the new year and remind them about his condition (what to do during gym, in class or recess, etc.) I always stated to them that I felt it was my job to educate as many people as I could. They all seemed very happy to receive the detailed information.”

Education is one of the key pieces of advice she has for other families with ectodermal dysplasias.

“My biggest advice is to do your own research. Trust your instincts. And then educate everyone your child spends time with – coaches, teachers, etc. Seek out other parents that have been through it and ask questions.

No Longer Alone

Before Facebook, I remember calling the NFED office and asking them to send me the addresses of people in my city.  I wrote them all letters hoping to meet another parent – I felt alone in the beginning.”

The Langefelds attended one of the NFED’s Regional Family Conferences and got to meet other families. They have connected with three other families face-to-face and with many moms on the NFED’s Facebook page.

“My dream for my son is that he doesn’t feel any different from everyone else. To enjoy life. To try new things and not be afraid of challenges. To know that he can be anything he chooses to be in life. I want him to be happy and healthy!”

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