How I Diagnosed Myself With a Rare Disorder

February 9, 2021February 11, 2021 Category: Stories of Hope Posted by Jodi Edgar Reinhardt

“They’ll grow in.”

That’s what Jeanne Marley heard for years about her daughter, Erica Green’s, missing teeth. But, many never did. No doctor or dentist could give her answers as to why her daughter’s teeth were missing and shaped differently.

Erica was missing 10 teeth. Because she presented “normal” otherwise, no health professional was concerned. They told Jeanne, “It’s just the way it is.”

Until 24-year-old Erica diagnosed herself last year.

When her dentures, which were snap-on appliances, broke in 2020, Erica searched the internet to seek permanent treatment options.

Finding a Name for It

She learned about oligodontia, which is a rare condition where at least six teeth are missing. She finally had a name for it! Or, so she thought.

Erica joined an oligodontia Facebook group where others were posting pictures of their teeth. None of their teeth were shaped irregularly like hers so she wasn’t sure if this is what she had. Then, someone posted about the Ensuring Lasting Smiles Act (ELSA).  Erica found the National Foundation for Ectodermal Dysplasias (NFED), which was leading efforts to get the legislation passed.

On the NFED website, she saw pictures of others whose teeth DID look like hers. She read about other parts of the body it affects. While her nails and sweat glands were normal, she sometimes gets eczema.

And, her hair is thin and rarely grows. She’s never needed a haircut other than to trim split ends. She had never connected her unique hair to her missing teeth! It was a revelation.

Armed with her diagnosis theory, she visited an oral surgeon last year to explore more permanent treatment options. He asked her a lot of questions. When she asked if he thought she could have ectodermal dysplasia, he said, “Of course!”

The young dentist had seen a young patient with ectodermal dysplasia in his residency. He wrote a letter to her primary care physician recommending a genetic consultation to confirm the diagnosis. She’s still waiting to hear back about getting an appointment.

No Hair Cuts Needed

Erica has beautiful curls, but her hair doesn’t grow. She believes her curls cover up how thin her hair truly is.

I never understood why people would want short hair, why they would want to cut it. I guess since my hair presented normally (even though it’s thin), no doctor questioned that something could be wrong with it.”

– Erica

Jeanne and Erica chuckled thinking back to all of the things they tried to stimulate her hair growth. They tried biotin, other treatments. Nothing worked. Now, they know why.

“When she was growing up, I didn’t have the internet or social media to look things up. Now you can find information and others who have this,” Jeanne said.

And that’s what Erica has loved about finding the NFED.

Finding a whole foundation (NFED) and people who have my condition was great! I looked on Instagram and connected to Kaitlyn Squibb, another young woman who is similar to me. I have never met anyone like me. It was interesting to talk to someone like her who has a typical appearance but has teeth issues.”

– Erica

“I’m grateful that it mostly affects my teeth,” Erica said. “But, I do think it impeded me getting a diagnosis. Everyone would just tell me, ‘you look fine,’ because I had dentures to cover my real teeth.”

Her Dental Journey

Despite growing up without a name for her condition, she did have a family dentist who helped get her “snap-on smile” the summer before she was entering eighth grade. He removed the braces that were on her two front teeth to pull them together, and created a denture that snapped on to her top and bottom teeth.

“When Erica returned to school, the other kids noticed her teeth but just said, ‘oh, you got your braces off.’ They didn’t even realize she had the dentures. I was grateful that she had something to get her through junior high and high school,” Jeanne said.

She wore that first appliance until April 2020.  Erica has nine permanent teeth and the rest are baby teeth, many of which have been loose for a long time. This young woman always has to very careful about what she eats.

I’ve never bit into an apple. I don’t eat corn on the cob. I’ve never had hard candies. With my snap-on, I can eat more, but I still must be very careful.”

– Erica

When a new dentist pulled four baby teeth in December of 2019, it caused her appliance to break a few months later. That drove her to look for a diagnosis and a more permanent treatment option. Since then, it’s been repaired, broke again, and then she was able to get a new snap-on device. She’s exploring dental implants and other treatment options.

The oral surgeon who diagnosed her admitted to not feeling experienced enough to treat her.

“I respected him for telling me that he didn’t feel comfortable treating me.”

In the meantime, she’s been working with the NFED staff to find a knowledgeable care provider. Erica’s willing to be patient and wait to get the right team.

Runs in the Family?

Erica and Jeanne aren’t sure where the ectodermal dysplasia came from or if it’s new in her. Erica’s father, who passed when she was 10, had missing teeth. But so did Jeanne’s dad. They are hoping to explore their family history more when they finally get to meet with a genetic team.

It feels great to have a name for my condition! It’s always been hard to explain to people. When I was younger, I wanted to keep it a secret. I had trouble explaining my missing teeth. No one would get it. It was always confusing to me. I didn’t understand. Now, I have something to tell people. It’s the best feeling!

– Erica

One Smart Cookie

Erica was born special, according to her mom. But it’s not because she has this condition. It’s because she is gifted.

“I was always told that Erica was perfectly healthy,” Jeanne said. “And, she had this brain! Erica knew her letters by 9 months old. She was reading books by age two. She was just a super smart kid. Erica’s an only child so I didn’t realize how advanced this was until she started school. She tested into Oxford Academy, which is a top public school in the country. We never had the crazy teen years. I never have to worry about Erica.”

Erica breezed through high school and college where she got her bachelor’s in psychology. She’s currently a graduate student at Chapman University where she’s studying to become a school psychologist. She dreams of working in an elementary school after she graduates in 2022 to assist students in getting the help they need.

Her Support Network

Erica  is grateful to have a group of best friends from high school who refer to themselves as the “Stay Home Club.” Her pals know about her ectodermal dysplasia and have always supported her.

She waited to date but now has a special guy in her life, Daniel, who accepts her for who she is.

“I always worried about what a guy would think about my teeth. Daniel said, ‘Your teeth are so nice and white’ before learning that I wear dentures. I felt comfortable to take my teeth out and show him. He wasn’t judgmental, just very supportive.”

Jeanne said her dream for Erica is for her to be happy in life.

“I know she’ll be successful in whatever she does, but I want her to have a happy life.”

Ah-Ha Moments

This mom and daughter are close and have learned a lot since finding the NFED last year.

I have been thinking a lot about dental treatment and how it should be a right not a privilege. Lots of people who need treatment don’t get it because of socio-economic status. My snap-on smile was called cosmetic by insurance companies. Yes, it helps make my teeth aesthetically pleasing. But, I can’t eat without them. But, if dentists and insurance companies are not familiar with ectodermal dysplasias, it makes it so hard for people to get the treatment they need.”

– Erica

Jeanne looks back and wishes she had pressed doctors more to get Erica a diagnosis.

“I would encourage others to be more adamant about getting answers. Search, do more research. I didn’t want her to stick out, I wanted her to have a normal life so I didn’t press as much. Read the information from the NFED. I read their insurance resources and know they are going to help as we get Erica’s treatment. Know you are not in this by yourself.”

Erica agrees.

“Join the NFED’s Facebook groups. Learn about others’ treatment journey. I asked questions like ‘How do crowns feel?’ Use their resources online.”

An Amazing Year

What a year 2020 was for Erica and Jeanne! A broken denture which led to a self-diagnosis. A new support network of caring people in the NFED family. And, resources to help them on their dental treatment and insurance journey!

It’s amazing how hearing just two words – ectodermal dysplasia – can change your life. Erica’s future was always bright. But, now she can move forward with resources that will make her journey easier. The NFED stands ready to help. And, all of us in the NFED family are excited to watch her story unfold!

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