The Most Beautiful Sight

April 14, 2020April 14, 2020 Category: Stories of Hope Posted by NFED

By Trisha Stoller

Kambree our first born. Our precious healthy baby girl.

It was a perfect pregnancy and I was just overjoyed with beginning our family. After the delivery, there were a few things that appeared abnormal such as; no eyebrow or eyelashes on the right side, some hair but it was patchy, rashy skin. No one seemed to notice or think much of anything.

Before we left the hospital, they performed the newborn hearing screening which came back abnormal. This was the first leg of our journey with Kambree. After a couple audiology visits, it was determined she had bilateral sensorineural hearing loss and would need hearing aids to hear. She received her “ears” at four months old! A few months later we received more news.

She’s Unique

At eight months old, we went to see our pediatrician who had been monitoring Kambree’s “unique features”. She noticed the sparse hair, the protruding forehead, placement of her ears, small mouth and a webbed toe that stuck out from her other toes. But what the most concerning problem at this point was the size of her head.

A CT scan was done and diagnosed she had hydrocephalus, a significant amount of fluid in three of her four ventricles. We were sent to Riley Children’s Hospital, where it was decided to wait on placing a shunt because she was asymptomatic. We have continued to monitor for signs/symptoms of the hydrocephalus. A few months later we received some more news.

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At a year and three months Kambree was already beating the odds, meeting all of her milestones. She was a very joyful, happy baby. At this age, her personality really began to bloom. She is a natural entertainer and has a compassionate heart that continues to amaze me to this day!

Kambree began crossing her eyes more often than I felt was normal. My mom gut was telling me this may be related to the hydrocephalus or potentially something else. A few appointments later, we learn she has congenital glaucoma in both eyes. This was rare diagnosis #3, which led us to our first round of genetic testing all of which came back “normal.” All the while, Kambree was just a thriving little girl so full of life! This is also the time teeth begin to play a factor.

Her Dental Journey

Kambree was born into a dental family. Her grandfather began a dental laboratory in 1977 and it is still family-owned and operated today. Kambree’s dad and uncle are employed there. All that is to say she has some very helpful people right at her fingertips!

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Kambree’s teeth came in at a very young age, with the first being at three months. She eventually got her entire bottom row of baby teeth and only seven of her top row. She was missing a few, but everyone always said that’s “not that abnormal.”

My husband and I took to Facebook and joined a group for Hypodontia & Oligodontia, but none of these stories looked quite like Kambree’s. Kambree at this age was a very petite little thing, well advanced and just completely surprising her doctors and therapists. But these teeth, they were so tiny, so so tiny….

At a year and a half, I took her to get her first cleaning. The dentist noticed her teeth lacking basically all enamel, her missing teeth of course, and most importantly, the shape of her palate and the size of her teeth. We were concerned about the missing front teeth at this point for speech development and also her ability to chew food was becoming a concern as well.

They decided to try a panoramic scan of her mouth. It surprised all of us when she cooperated like an angel. It showed that her front teeth were impacted in her gums but very underdeveloped and pointy. We then went to a pediatric dentist in our local town to figure out options.

As a parent it never gets easier to hear abnormalities about your child. We heard the words “these are the smallest teeth I have ever seen”, talk of pulling her teeth through and capping them or just extracting them. The capping would consist of custom made caps due to the size of her teeth. We chose to extract them.

We combined having tonsils removed, teeth extracted as well as a growth she had on her gums at the location of her front teeth. She was a champ. The entire dental part of the surgery was not covered by any medical insurance or dental insurance.

At the time of Kambree’s surgery, we had our second child. They looked nothing alike. He didn’t have patchy hair. He had eyebrows and eyelashes and he passed his newborn hearing screening!

Her Toddler Years

Fast forward to Kambree at three years old….

We enjoy spending our time outdoors at the lake. Kambree is an adventurous spirit, likes to keep busy and loves nothing more than being around people. We began to notice unique pigmenting to her skin, irritability being out in the sun, sensitivity to the sun as well as the skin on her feet, peeling and cracking from running around outside. We noticed all of these things but never knew there could be an underlying cause.

At the next dental cleaning, our dentist said, “How about you go see a dentist at Riley Children’s Hospital and just see what they think.” This was the very first time we heard the words ectodermal dysplasia. And that was it. Nothing about ectodermal dysplasia. Just that “she is a case of ectodermal dysplasia.”

We left that appointment feeling a bit discouraged. We knew nothing more leaving then we did before we came, so we thought.

Finding the NFED

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A year or two down the road and several eye surgeries, MRI scans and routine dental cleanings, orthodontic evaluations, first front teeth and top denture later…My husband was on Facebook in the Hypodontia/Oligodontia group. There was a couple who shared some information from the National Foundation for Ectodermal Dysplasias (NFED) about insurance coverage of dental anomalies.

I did some research and came across the NFED Family Conference 2019. I called the NFED office and shared with Jodi the story of our daughter’s health journey. She assured us that we needed to be there, and I am so beyond grateful that we listened!

We purchased our tickets and the NFED quickly became very dear to our hearts and truly was an answered prayer for our family!

Our First Family Conference

That Family Conference was one of the highlights of our year in 2019. As a family with a daughter fitting into an unknown category and only having heard the words ectodermal dysplasia one time and years ago at a specialty dentist appointment, we were apprehensive about attending.

We attended all the meetings, met some wonderful families and made all the appointments. The seminars were extremely informative. We truthfully learned so much. We also gained resources and had the opportunity to meet dentists, Dr. Tim Wright and Dr. Clarke Stanford.

They examined Kambree and answered our questions in regards to her teeth and dental journey. We haven’t yet begun the difficult dental work but the time is coming near. We also met and spoke with Dr. Lauren Blieden about Kambree’s rare glaucoma.

The knowledge we gained from the Family Conference has proven to be invaluable. All of what we experienced is truly difficult for me to put into words. We had been through three rounds of genetic testing up to this point, one was pending results. No link or abnormality had been found in Kambree. We were uncertain if we even truly fit in the ectodermal dysplasia mold. We were pleasantly surprised to say the least.

When arriving home after the conference, there was a peace between my husband and I. One we had never talked about or mentioned before. We have always known and heard from others that Kambree has “unique features” and we see it ourselves, too.

At the Conference, we were able to see and witness first hand that each of these beautiful children at the conference as well as our daughter, Kambree, all resembled each other in one way or another. It was the most beautiful sight and gave us unexplainable peace.

What Kambree’s Ectodermal Dysplasia Looks Like

Hair Symptoms: Kambree was born with no right eyebrow or eyelashes and patchy hair. She had the nickname “patches” when she was just a babe.

Skin Symptoms: At birth I don’t remember anything significant but as she continued to grow she developed a unique mosaic pattern of hyperpigmentation (darkening) on her arms, trunk & legs. As well as extremely dry, peeling, cracking feet and sometimes her hands. This is what is most painful to Kambree.

Nail Abnormalities: She has tiny, tiny nails. Her fingernails are really thin and tear easily. Her toenails are pointy and really thick. Fun fact-I have maybe clipped Kambree’s nails twice in her life. I never thought twice about this until the NFED Family Conference. Kind of always knew her nails were different but never thought much of it.

Eyes: Kambree has never produced tears in her right eye. She suffered from dry eye from lack of lubrication and on top of that, the glaucoma also increases dry eye. We were taught this weekend that we need to be treating her for dry eye or else long term damage will occur. The glaucoma is just an added perk and not related to any type of ectodermal dysplasia yet known.

Ears: At birth Kambree didn’t pass her newborn hearing screening. She was diagnosed with bilateral sensorineural hearing loss, common in a type of ectodermal dysplasia. Along with an increased accumulation of ear wax. Yep, she has that for sure but we always associated it being because of the hearing aids.

Dental Symptoms: Kambree’s teeth and mouth structure is how we discovered the diagnosis. She is missing several baby teeth, she has tiny tiny baby teeth (microdontia) with minimal enamel. The larger problem is she hasn’t developed normal permanent teeth, she is missing 28 or 29 permanent teeth and the quality of them is unknown. She also has an extremely tiny palate that isn’t shaped correctly. It’s a “v” instead of a “u”.

There is one more unknown in all of this.

How Does She Sweat?

We truthfully aren’t sure. She does get tired and irritable really quickly being outside in the heat but she is also six years old. At a younger age, she would break out in rashes from being in the sun. I associated this with a reaction to sunscreen and her extremely sensitive skin.

At the Family Conference, we learned that one of the first signs of overheating is red ears. Both nights we were at the hotel, we decided to get in the hot tub. Kambree loves the hot tub. Within just a couple minutes both times being in the hot tub Kambree’s ears turned BRIGHT red. Neither of us have ever noticed this before. We know she sweats to some degree but we still need to have this tested.

What’s Our Type?

We are rejoicing in the fact that we have found the NFED family and feel like we have made a GIANT leap towards helping Kambree better understand her differences and why but…Kambree has no genetic link to ectodermal dysplasia.

The one thing that really led us to the NFED Family Conference was a research study being done called, “Ectodermal Dysplasia: Type Unknown.” This is Kambree. This study is being led by Dr. Richard Lewis who we were very fortunate to have met at the conference.

We shared our story with him personally and he assured us that Kambree was a perfect fit for this study. We have sent in all the charts, signed all the paperwork and had a family outing day for blood draws that have arrived safely to Dr. Lewis and the staff conducting this study. We are beyond thankful to be a part of this study!

Everyone involved has made this entire experience completely worthwhile and it’s our prayer that our journey will help another family out there just like us!

– Trisha Stoller is a guest blogger for the NFED. She lives in Bluffton, Indiana, with her husband, Landon, and two children.

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